LOINC Panel Details 54089-8 Newborn screening panel American Health Information Community (AHIC)

73738-7 Newborn screening test results panel - Point of Care

Term Description

The newborn screening test results panel - point of care covers screening that is done at the bedside prior to the infant's discharge from the hospital. Whereas most newborn screening tests are run on dried blood spots, two (hearing screening and critical congenital heart disease screening) are done as point-of-care tests.
Source: Regenstrief LOINC

Fully-Specified Name

Component: Newborn screening test results panel
Property: -
Time: Pt
System: ^Patient
Scale: -
Method

Additional Names

Short Name: NBS test results pnl - POC

Basic Attributes

Class: PANEL.H&P
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.77
Order vs. Observation: Order
Panel Type: Organizer

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Panel de resultados de tests de cribado del recién nacido:Propiedades mixtas (sólo paneles):Punto temporal:^paciente:-:
es-MX	Spanish (Mexico)	Panel de resultados de la prueba de detección del recién nacido:-:Punto temporal:^ Paciente:-:
fr-FR	French (France)	Dépistage néonatal - Résultats des tests panel:-:Ponctuel:Patient:-:
it-IT	Italian (Italy)	Screening neonatale, panel risultati test:-:Pt:^Paziente:-: Synonyms: Panel risultati test di screening neonatale paziente Punto nel tempo (episodio) Set di prescrizione per anamnesi e esame obiettivo
nl-NL	Dutch (Netherlands)	pasgeborene screening testresultaten panel:-:moment:^patiënt:-:
ru-RU	Russian (Russian Federation)	Новорождённый скрининг тест результаты панель:-:ТчкВрм:^Пациент:-: Synonyms: Точка во времени;Момент
zh-CN	Chinese (China)	新生儿筛查试验结果组套:-:时间点:^患者:-: Synonyms: Asympt SCN 医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.病史与体格检查小节;组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）.历史纪录与体格检查;医嘱组.历史纪录与体格检查小节;医嘱组.病史与体格检查;历史纪录与体格检查医嘱组;历史纪录与体格检查医嘱组类;历史纪录与体格检查小节医嘱组;历史纪录与体格检查小节医嘱组类;病史与体格检查医嘱组;病史与体格检查医嘱组类;病史与体格检查小节医嘱组;病史与体格检查小节医嘱组类医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类医疗服务对象;客户;病人;病患;病号;超系统 - 病人历史纪录与体格检查历史纪录与体格检查小节多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类新生儿（NB）筛查（筛选、过筛、筛检）试验结果组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;新生儿筛查试验结果组套;新生儿筛查试验结果组合;新生儿筛查检验结果医嘱组无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验医嘱组合类检验项目医嘱组合类检验项目组合类病史与体格检查筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验组组合组合医嘱组合类组套

54111-0 Newborn hearing screening panel

Fully-Specified Name

Component: Newborn hearing screening panel
Property: -
Time: Pt
System: ^Patient
Scale: -
Method

Additional Names

Short Name: NB hear screen Pnl

Basic Attributes

Class: PANEL.H&P
Type: Clinical
First Released: Version 2.26
Last Updated: Version 2.77
Change Reason: Panel contains observations relevant to the screening itself, not necessarily to hearing loss.
Order vs. Observation: Order
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Neugeborenen-Hörscreening (Liste):-:Zeitpunkt:^Patient:-:
es-MX	Spanish (Mexico)	Panel de evaluación auditiva para recién nacidos:-:Punto temporal:^ Paciente:-:
fr-BE	French (Belgium)	Panel screening nouveau-né audition:-:Temps ponctuel:^Patient:-:
it-IT	Italian (Italy)	Neonato, panel perdita udito:-:Pt:^Paziente:-: Synonyms: Panel perdita dell''udio nel neonato paziente Punto nel tempo (episodio) Set di prescrizione per anamnesi e esame obiettivo Udito del neonato
pt-BR	Portuguese (Brazil)	Recém-nascido painel de perda auditiva:-:Pt:^Paciente:-: Synonyms: ; NB hearing loss Pnl; Point in time; Random; Pan; Panl; New born
ru-RU	Russian (Russian Federation)	Новорождённый слух скрин панель:-:ТчкВрм:^Пациент:-: Synonyms: Точка во времени;Момент
zh-CN	Chinese (China)	新生儿听力损失筛查组套:-:时间点:^患者:-: Synonyms: Asympt SCN 医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.病史与体格检查小节;组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）.历史纪录与体格检查;医嘱组.历史纪录与体格检查小节;医嘱组.病史与体格检查;历史纪录与体格检查医嘱组;历史纪录与体格检查医嘱组类;历史纪录与体格检查小节医嘱组;历史纪录与体格检查小节医嘱组类;病史与体格检查医嘱组;病史与体格检查医嘱组类;病史与体格检查小节医嘱组;病史与体格检查小节医嘱组类医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类医疗服务对象;客户;病人;病患;病号;超系统 - 病人历史纪录与体格检查历史纪录与体格检查小节听觉多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类新生儿听力损失（听力丧失、听觉损耗）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验医嘱组合类检验项目医嘱组合类检验项目组合类病史与体格检查筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验组组合组合医嘱组合类组套

57700-7 Hearing loss newborn screening comment/discussion

Part Descriptions

LP56780-7 Hearing loss
A general term for the complete or partial loss of the ability to hear from one or both ears. Source: National Library of Medicine, MeSH 2006

Fully-Specified Name

Component: Hearing loss newborn screening comment-discussion
Property: Txt
Time: Pt
System: Ear
Scale: Nar
Method

Additional Names

Short Name: Hearing loss NBS comment/discussion
Display Name: Hearing loss newborn screening comment-discussion Nar (Ear)
Consumer Name Alpha Get Info: Hearing loss newborn screening comment-discussion, Ear

Basic Attributes

Class: H&P.HX.LAB
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.46
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54111-0	Newborn hearing screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Hörverlust Neugeborenen-Screening Kommentar-Diskussion:Text:Zeitpunkt:Ohr:Freitext:
es-ES	Spanish (Spain)	Pérdida auditiva screnning de recién nacidos comentario-discusión:Texto:Punto temporal:Oído:Narrativo:
es-MX	Spanish (Mexico)	Comentario / discusión sobre la detección del recién nacido con pérdida auditiva:Texto:Punto temporal:Oído:Narrativo:
it-IT	Italian (Italy)	Perdita di udito , screening neonatale, commenti-discussione:Txt:Pt:Orecchio:Nar: Synonyms: Anamnesi Anamnesi pertinente a esami di laboratorio Commento/discussione di screening neonatale per perdita di udito Punto nel tempo (episodio) Testo
nl-NL	Dutch (Netherlands)	gehoorverlies screening van pasgeborene commentaar-discussie:tekst:moment:oor:tekstueel:
pt-BR	Portuguese (Brazil)	Perda auditiva na triagem neonatal comentários-discussão:#N/A:Pt:Orelha:Nar: Synonyms: ; Hearing loss NBS comment/discussion; Remarks; Text; Point in time; Random; Otologic; Narrative; Report; SCN; Asymptomatic; Asympt; New born; Com; Comm; Commt; Comments; cmnt; cmmt
ru-RU	Russian (Russian Federation)	Слух потеря новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Ухо:Опис: Synonyms: Описательный Потеря слуха Текст Точка во времени;Момент
tr-TR	Turkish (Turkey)	İşitme kaybı yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kulak:Öykü:
zh-CN	Chinese (China)	听力损失新生儿筛查注释-讨论:文本型属性:时间点:耳:叙述型: Synonyms: Asympt SCN 化验室化验科历史纪录与体格检查历史纪录与体格检查.历史记录;历史纪录与体格检查.历史记录类;历史纪录与体格检查.历史记录类别;历史纪录与体格检查.病史;历史纪录与体格检查.病史类;历史纪录与体格检查.病史类别;历史纪录与体格检查.病史记录;历史纪录与体格检查.病史记录类;历史纪录与体格检查.病史记录类别;历史纪录与体格检查小节.历史记录;历史纪录与体格检查小节.历史记录类;历史纪录与体格检查小节.历史记录类别;历史纪录与体格检查小节.病史;历史纪录与体格检查小节.病史类;历史纪录与体格检查小节.病史类别历史纪录与体格检查小节叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型听力损失新生儿筛查注释/讨论听力损害;听力丧失;听觉损耗听觉备注备注;评论;注解;说明;评语实验室实验室类别意见文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验科注解病史（历史记录、历史、史）与体格检查（身体检查、查体、PX、体格检查结果）.病史（历史记录、历史、史）.实验室（实验室检验项目、检验项目、检验、检验医学、化验项目、化验）病史与体格检查短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验耳朵;耳部解说解释评定评注评论评语说明

58232-0 Hearing loss risk indicators [Identifier]

Term Description

This question should be answered as part of the order and/or result of new born screen for hearing loss. It is intended to capture the risk factors identified by the Joint committee on Infant Hearing (JCIH) in appendix 2 of their recommendations (Pediatrics 2007;120;898-921). The user should always provide an answer (none if no risk factors exist) and otherwise pick as many answers as apply. The observations must be included IF the hearing screening result is delivered as part of this report.
Source: Regenstrief LOINC

Fully-Specified Name

Component: Hearing loss risk indicators
Property: Prid
Time: Pt
System: ^Patient
Scale: Nom
Method

Additional Names

Short Name: Hearing loss risk indicators

Basic Attributes

Class: H&P.HX
Type: Clinical
First Released: Version 2.30
Last Updated: Version 2.56
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.

Preferred Answer List LL862-4

Answer	Code	Score	Answer ID
Family Hx of hearing loss			LA12668-2
ICU stay > 5 days			LA12669-0
Hyperbilirubinemia with exchange transfusion			LA12673-2
Aminoglycoside administration for more than 5 days			LA12672-4
Asphyxia or Hypoxic Ischemic Encephalopathy			LA31563-2
ECMO			LA12670-8
In utero infection(s) such as herpes, rubella, syphilis, and toxoplasmosis			LA12674-0
In utero infection with cytomegalovirus (CMV)			LA31564-0
Mother + Zika and infant with no laboratory evidence and no clinical findings			LA31565-7
Mother + Zika and infant with laboratory evidence of Zika			LA31566-5
Craniofacial malformations: Other (e.g., ear dysplasia, oral facial clefting, white forelock, microphthalmia)			LA31852-9
Craniofacial malformations: microtia/atresia			LA31853-7
Congenital microcephaly, congenital or acquired hydrocephalus			LA31567-3
Temporal bone abnormalities			LA31568-1
Syndromes associated with atypical hearing thresholds			LA12676-5
Culture-positive infections associated with sensorineural hearing loss			LA12678-1
Significant head trauma			LA12679-9
Chemotherapy			LA6172-6
Caregiver concern about hearing			LA12667-4
None Copyright http://snomed.info/sct ID:260413007 None (qualifier value)			LA137-2

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54111-0	Newborn hearing screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Hörverlust Risikoindikatoren:Nachweis oder Identität:Zeitpunkt:^Patient:Nominal:
es-MX	Spanish (Mexico)	Indicadores de riesgo de pérdida auditiva:Tipo:Punto temporal:^ Paciente:Nominal:
it-IT	Italian (Italy)	Perdita uditiva, indicatori di rischio:Prid:Pt:^Paziente:Nom: Synonyms: Anamnesi Indicatori di rischio di perdita uditiva paziente Presenza o Identità Punto nel tempo (episodio)
pt-BR	Portuguese (Brazil)	Indicadores de risco para perda auditiva:Ident:Pt:^Paciente:Nom: Synonyms: Identity or presence; Point in time; Random; Nominal
ru-RU	Russian (Russian Federation)	Слух потеря риск индикаторы:ПрИд:ТчкВрм:^Пациент:Ном: Synonyms: Номинальный;Именной Потеря слуха Присутствие или Идентификация Точка во времени;Момент
zh-CN	Chinese (China)	听力损失风险指标:存在与否或特征标识:时间点:^患者:名义型: Synonyms: 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答医疗服务对象;客户;病人;病患;病号;超系统 - 病人历史纪录与体格检查历史纪录与体格检查.历史记录;历史纪录与体格检查.历史记录类;历史纪录与体格检查.历史记录类别;历史纪录与体格检查.病史;历史纪录与体格检查.病史类;历史纪录与体格检查.病史类别;历史纪录与体格检查.病史记录;历史纪录与体格检查.病史记录类;历史纪录与体格检查.病史记录类别;历史纪录与体格检查小节.历史记录;历史纪录与体格检查小节.历史记录类;历史纪录与体格检查小节.历史记录类别;历史纪录与体格检查小节.病史;历史纪录与体格检查小节.病史类;历史纪录与体格检查小节.病史类别历史纪录与体格检查小节听力损失（听力损害、听力丧失、听觉损耗）风险指标（迹象、标志）听力损害;听力丧失;听觉损耗听觉存在;存在与否;特征标识;身份;身份标识时刻;随机;随意;瞬间病史与体格检查

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54106-0 Newborn hearing screen method

Fully-Specified Name

Component: Newborn hearing screen method
Property: Type
Time: Pt
System: Ear
Scale: Nom
Method

Additional Names

Short Name: NB hearing scn meth

Basic Attributes

Class: H&P.HX
Type: Clinical
First Released: Version 2.26
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation

Preferred Answer List LL617-2

Answer	Code	Answer ID
Automated auditory brainstem response	AABR	LA10387-1
Auditory brain stem response	ABR	LA10388-9
Otoacoustic emissions	OAE	LA10389-7
Distortion product otoacoustic emissions	DPOAE	LA10390-5
Transient otoacoustic emissions	TOAE	LA10391-3
Methodology unknown		LA12406-7

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54111-0	Newborn hearing screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Hören bei Neugeborenen Screening:Typ:Zeitpunkt:Ohr:Nominal:
es-MX	Spanish (Mexico)	Método de evaluación auditiva para recién nacidos:Tipo:Punto temporal:Oreja:Nominal:
it-IT	Italian (Italy)	Neonato, udito , screening, metodo:Tipo:Pt:Orecchio:Nom: Synonyms: , metodo di screening Anamnesi Punto nel tempo (episodio) Screening uditivo del neonato Udito del neonato
pt-BR	Portuguese (Brazil)	Recém-nascido método de triagem da audição:Tipo:Pt:Orelha:Nom: Synonyms: ; NB hearing scn meth; NBS; Method of; Meth; Typ; Point in time; Random; Otologic; Nominal; Scr; Scn; Scrn; New born
ru-RU	Russian (Russian Federation)	Новорождённого слух скрин метод:Тип:ТчкВрм:Ухо:Ном: Synonyms: Номинальный;Именной Точка во времени;Момент
zh-CN	Chinese (China)	新生儿听力筛查方法:类型:时间点:耳:名义型: Synonyms: 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答历史纪录与体格检查历史纪录与体格检查.历史记录;历史纪录与体格检查.历史记录类;历史纪录与体格检查.历史记录类别;历史纪录与体格检查.病史;历史纪录与体格检查.病史类;历史纪录与体格检查.病史类别;历史纪录与体格检查.病史记录;历史纪录与体格检查.病史记录类;历史纪录与体格检查.病史记录类别;历史纪录与体格检查小节.历史记录;历史纪录与体格检查小节.历史记录类;历史纪录与体格检查小节.历史记录类别;历史纪录与体格检查小节.病史;历史纪录与体格检查小节.病史类;历史纪录与体格检查小节.病史类别历史纪录与体格检查小节听觉型新生儿听力（听觉）筛查方;法;办法;方式时刻;随机;随意;瞬间病史与体格检查筛查筛查试验筛选方法;过筛方法筛选试验耳朵;耳部过筛过筛试验

73741-1 Newborn hearing screen panel - Left Ear

Term Description

The newborn hearing loss panel [left ear] includes all of the terms relevant to reporting left ear newborn hearing screen results. It does not include terms that are relevant to both ears, such as the comment/discussion and hearing loss risk indicators.
Source: Regenstrief LOINC

Fully-Specified Name

Component: Newborn hearing screen panel
Property: -
Time: Pt
System: Ear.left
Scale: -
Method

Additional Names

Short Name: NBS hear pnl Ear-L

Basic Attributes

Class: PANEL.H&P
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.77
Order vs. Observation: Order
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54111-0	Newborn hearing screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Neugeborenen-Hörscreening (Liste):-:Zeitpunkt:Ohr links:-:
es-MX	Spanish (Mexico)	Panel de pantalla de audición para recién nacidos:-:Punto temporal:Oreja izquierda:-:
it-IT	Italian (Italy)	Neonato, screening udito, panel:-:Pt:Orecchio.sinistro:-: Synonyms: Orecchio Sinistro Panel screening uditivo del neonato Punto nel tempo (episodio) Screening uditivo del neonato Set di prescrizione per anamnesi e esame obiettivo Udito del neonato
ru-RU	Russian (Russian Federation)	Новорождённого слух скрин панель:-:ТчкВрм:Ухо.левое:-: Synonyms: Панель скрин слуха новорождённого Точка во времени;Момент
zh-CN	Chinese (China)	新生儿听力筛查组套:-:时间点:耳.左侧:-: Synonyms: L LT 医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.病史与体格检查小节;组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）.历史纪录与体格检查;医嘱组.历史纪录与体格检查小节;医嘱组.病史与体格检查;历史纪录与体格检查医嘱组;历史纪录与体格检查医嘱组类;历史纪录与体格检查小节医嘱组;历史纪录与体格检查小节医嘱组类;病史与体格检查医嘱组;病史与体格检查医嘱组类;病史与体格检查小节医嘱组;病史与体格检查小节医嘱组类医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类历史纪录与体格检查历史纪录与体格检查小节向左向左侧听觉多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类左左侧（Left，LT，L）左向左耳左边新生儿听力（听觉）筛查新生儿听力（听觉）筛查组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）时刻;随机;随意;瞬间检验医嘱组合类检验项目医嘱组合类检验项目组合类病史与体格检查筛查筛查试验筛选试验组组合组合医嘱组合类组套耳朵;耳部过筛过筛试验

54108-6 Newborn hearing screen of Ear - left

Fully-Specified Name

Component: Newborn hearing screen
Property: Arb
Time: Pt
System: Ear.left
Scale: Ord
Method

Additional Names

Short Name: NB hearing scn Ear-L

Basic Attributes

Class: H&P.HX
Type: Clinical
First Released: Version 2.26
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Both

Preferred Answer List LL618-0

Answer	Code	Score	Answer ID
Pass			LA10392-1
Refer Copyright http://snomed.info/sct ID:183924009 Referral needed (finding)			LA10393-9
Parental refusal Copyright http://snomed.info/sct ID:609589008 Refused by parents of subject (qualifier value)			LA6644-4
Attempted, but unsuccessful - technical fail Copyright http://snomed.info/sct ID:103709008 Failed attempted procedure (situation)			LA12408-3
Not performed Copyright http://snomed.info/sct ID:262008008 Not performed (qualifier value)			LA7304-4
Not performed, medical exclusion - not indicated Copyright http://snomed.info/sct ID:410534003 Not indicated (qualifier value)			LA12409-1

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54111-0	Newborn hearing screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Pantalla de audición para recién nacidos:Arb:Punto temporal:Oreja izquierda:Ordinal:
it-IT	Italian (Italy)	Neonato, screening udito:Arb:Pt:Orecchio.sinistro:Ord: Synonyms: Anamnesi Arbitrario Orecchio Sinistro Punto nel tempo (episodio) Screening uditivo del neonato Udito del neonato
pt-BR	Portuguese (Brazil)	Recém-nascido triagem de audição:Arb:Pt:Orelha.esquerda:Ord: Synonyms: ; NB hearing scn; NBS; Arbitrary; Point in time; Random; Ear-L; Ear-L; Otologic; Ql; Ordinal; QL; Qualitative; Qual; Scr; Scn; Scrn; New born
ru-RU	Russian (Russian Federation)	Новорождённый слух скрин:Произв:ТчкВрм:Ухо.левое:Пор: Synonyms: Порядковый Произвольный Точка во времени;Момент
zh-CN	Chinese (China)	新生儿听力筛查:任意型:时间点:耳.左侧:序数型: Synonyms: L LT 任意;任意的;人工型依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型历史纪录与体格检查历史纪录与体格检查.历史记录;历史纪录与体格检查.历史记录类;历史纪录与体格检查.历史记录类别;历史纪录与体格检查.病史;历史纪录与体格检查.病史类;历史纪录与体格检查.病史类别;历史纪录与体格检查.病史记录;历史纪录与体格检查.病史记录类;历史纪录与体格检查.病史记录类别;历史纪录与体格检查小节.历史记录;历史纪录与体格检查小节.历史记录类;历史纪录与体格检查小节.历史记录类别;历史纪录与体格检查小节.病史;历史纪录与体格检查小节.病史类;历史纪录与体格检查小节.病史类别历史纪录与体格检查小节向左向左侧听觉左左侧（Left，LT，L）左向左耳左边新生儿听力（听觉）筛查时刻;随机;随意;瞬间病史与体格检查筛查筛查试验筛选试验耳朵;耳部过筛过筛试验

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

73740-3 Screening duration of Ear - left

Term Description

The duration of screening [left ear] indicates the length of time taken to perform the left ear newborn hearing screen.
Source: Regenstrief LOINC

Fully-Specified Name

Component: Screening duration
Property: Time
Time: Pt
System: Ear.left
Scale: Qn
Method

Additional Names

Short Name: Screen dur Ear-L

Basic Attributes

Class: H&P.PX
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.52
Change Reason: Changed Component name from 'Duration of screening' for consistency across "duration" terms and better term sorting.
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54111-0	Newborn hearing screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Duración del cribado:Tiempo:Punto temporal:Oreja izquierda:Cuantitativo:
it-IT	Italian (Italy)	Durata dello screening:Tempo:Pt:Orecchio.sinistro:Qn: Synonyms: Esame obbiettivo Orecchio Sinistro Punto nel tempo (episodio) Tempo (e.g. secondi)
ru-RU	Russian (Russian Federation)	Продолжительность скринига:Время:ТчкВрм:Ухо.левое:Колич: Synonyms: Время (в т.ч. в секундах) Количественный Точка во времени;Момент
zh-CN	Chinese (China)	筛查持续时间:时间:时间点:耳.左侧:定量型: Synonyms: Asympt L LT SCN 体格检查小节与指标;体格检查小节与测量指标;历史纪录与体格检查.体格检查小节与指标;历史纪录与体格检查.体格检查小节与测量指标;历史纪录与体格检查小节.体格检查小节与指标;历史纪录与体格检查小节.体格检查小节与测量指标;病史与体格检查.体格检查小节与指标;病史与体格检查.体格检查小节与测量指标;病史与体格检查小节.体格检查小节与指标历史纪录与体格检查历史纪录与体格检查小节可用数量表示的;定量性;数值型;数量型;连续数值型标尺向左向左侧左左侧（Left，LT，L）左向左耳左边持续时长;时长;时间长度;为时;为期;历时;延续时间;持久时间无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间时间(如秒);时间(如秒数) 普查普查试验病史与体格检查筛分筛分试验筛查（Screening，SCN）筛查（筛选、过筛、筛检）持续时间（持续时长、时长、时间长度、时间、时间长短、为时、为期、历时、延续时间、持久时间、持续期）筛查试验筛选筛选试验耳朵;耳部

Example Units

Unit	Source
min	Example UCUM Units

73739-5 Newborn hearing screen reason not performed of Ear - left

Term Description

Newborn hearing screening is universally mandated in the United States. Newborn hearing screen reason not performed explains why, in certain circumstances, the screening was not done for a particular infant.
Source: Regenstrief LOINC

Fully-Specified Name

Component: Newborn hearing screen reason not performed
Property: Find
Time: Pt
System: Ear.left
Scale: Nom
Method

Additional Names

Short Name: NBS reason not prfmed Ear-L

Basic Attributes

Class: H&P.PX
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.56
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation

Preferred Answer List LL2769-9

Answer	Code	Score	Answer ID
Attempted, but unsuccessful - technical fail Copyright http://snomed.info/sct ID:103709008 Failed attempted procedure (situation)			LA12408-3
Not performed, medical exclusion - not indicated Copyright http://snomed.info/sct ID:410534003 Not indicated (qualifier value)			LA12409-1
Patient died Copyright http://snomed.info/sct ID:397709008 Patient died (finding)			LA20644-3
Parental refusal Copyright http://snomed.info/sct ID:609589008 Refused by parents of subject (qualifier value)			LA6644-4
Procedure refused for religious reason Copyright http://snomed.info/sct ID:183945002 Procedure declined for religious reason (situation)			LA20643-5

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54111-0	Newborn hearing screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Razón de la prueba de audición del recién nacido no realizada:Tipo:Punto temporal:Oreja izquierda:Nominal:
it-IT	Italian (Italy)	Neonato, screening udito, motivo per cui non è stato eseguito:Osservazione:Pt:Orecchio.sinistro:Nom: Synonyms: Esame obbiettivo Motivo per cui non è stato eseguito lo screening u Orecchio Sinistro Osservazione Punto nel tempo (episodio) Screening uditivo del neonato Udito del neonato
ru-RU	Russian (Russian Federation)	Новорождённого слух скрин причина не выполнен:Находка:ТчкВрм:Ухо.левое:Ном: Synonyms: Номинальный;Именной Причина, по которой не выполнен скрин слуха новорождённого Точка во времени;Момент
zh-CN	Chinese (China)	关于未进行新生儿听力筛查的原因:发现:时间点:耳.左侧:名义型: Synonyms: L LT 体格检查小节与指标;体格检查小节与测量指标;历史纪录与体格检查.体格检查小节与指标;历史纪录与体格检查.体格检查小节与测量指标;历史纪录与体格检查小节.体格检查小节与指标;历史纪录与体格检查小节.体格检查小节与测量指标;病史与体格检查.体格检查小节与指标;病史与体格检查.体格检查小节与测量指标;病史与体格检查小节.体格检查小节与指标关于未执行（完成、开展、进行、做、检查、履行）新生儿听力（听觉）筛查的原因（理由）分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答历史纪录与体格检查历史纪录与体格检查小节发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论向左向左侧听觉左左侧（Left，LT，L）左向左耳左边新生儿听力（听觉）筛查时刻;随机;随意;瞬间病史与体格检查筛查筛查试验筛选试验耳朵;耳部过筛过筛试验

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

73744-5 Newborn hearing screen panel - Right Ear

Term Description

The newborn hearing loss panel [right ear] includes all of the terms relevant to reporting right ear newborn hearing screen results. It does not include terms that are relevant to both ears, such as the comment/discussion and hearing loss risk indicators.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Newborn hearing screen panel
Property: -
Time: Pt
System: Ear.right
Scale: -
Method

Additional Names

Short Name: NBS hear pnl Ear-R

Basic Attributes

Class: PANEL.H&P
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.77
Order vs. Observation: Order
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54111-0	Newborn hearing screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Neugeborenen-Hörscreening (Liste):-:Zeitpunkt:Ohr rechts:-:
es-MX	Spanish (Mexico)	Panel de pantalla de audición para recién nacidos:-:Punto temporal:Oído derecho:-:
it-IT	Italian (Italy)	Neonato, screening udito, panel:-:Pt:Orecchio.destro:-: Synonyms: Orecchio Destro Panel screening uditivo del neonato Punto nel tempo (episodio) Screening uditivo del neonato Set di prescrizione per anamnesi e esame obiettivo Udito del neonato
ru-RU	Russian (Russian Federation)	Новорождённого слух скрин панель:-:ТчкВрм:Ухо.правое:-: Synonyms: Панель скрин слуха новорождённого Точка во времени;Момент
zh-CN	Chinese (China)	新生儿听力筛查组套:-:时间点:耳.右侧:-: Synonyms: R RT 医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.病史与体格检查小节;组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）.历史纪录与体格检查;医嘱组.历史纪录与体格检查小节;医嘱组.病史与体格检查;历史纪录与体格检查医嘱组;历史纪录与体格检查医嘱组类;历史纪录与体格检查小节医嘱组;历史纪录与体格检查小节医嘱组类;病史与体格检查医嘱组;病史与体格检查医嘱组类;病史与体格检查小节医嘱组;病史与体格检查小节医嘱组类医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类历史纪录与体格检查历史纪录与体格检查小节右右侧（Right，R，RT）右侧的右向右向的右耳右边右边的向右向右的听觉多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类新生儿听力（听觉）筛查新生儿听力（听觉）筛查组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）时刻;随机;随意;瞬间检验医嘱组合类检验项目医嘱组合类检验项目组合类病史与体格检查筛查筛查试验筛选试验组组合组合医嘱组合类组套耳朵;耳部过筛过筛试验

54109-4 Newborn hearing screen of Ear - right

Observation Required in Panel

Required

Fully-Specified Name

Component: Newborn hearing screen
Property: Arb
Time: Pt
System: Ear.right
Scale: Ord
Method

Additional Names

Short Name: NB hearing scn Ear-R

Basic Attributes

Class: H&P.HX
Type: Clinical
First Released: Version 2.26
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Both

Preferred Answer List LL618-0

Answer	Code	Score	Answer ID
Pass			LA10392-1
Refer Copyright http://snomed.info/sct ID:183924009 Referral needed (finding)			LA10393-9
Parental refusal Copyright http://snomed.info/sct ID:609589008 Refused by parents of subject (qualifier value)			LA6644-4
Attempted, but unsuccessful - technical fail Copyright http://snomed.info/sct ID:103709008 Failed attempted procedure (situation)			LA12408-3
Not performed Copyright http://snomed.info/sct ID:262008008 Not performed (qualifier value)			LA7304-4
Not performed, medical exclusion - not indicated Copyright http://snomed.info/sct ID:410534003 Not indicated (qualifier value)			LA12409-1

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54111-0	Newborn hearing screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Pantalla de audición para recién nacidos:Arb:Punto temporal:Oído derecho:Ordinal:
it-IT	Italian (Italy)	Neonato, screening udito:Arb:Pt:Orecchio.destro:Ord: Synonyms: Anamnesi Arbitrario Orecchio Destro Punto nel tempo (episodio) Screening uditivo del neonato Udito del neonato
pt-BR	Portuguese (Brazil)	Recém-nascido triagem de audição:Arb:Pt:Orelha.direita:Ord: Synonyms: ; NB hearing scn; NBS; Arbitrary; Point in time; Random; Ear-R; Ear-R; Otologic; Ql; Ordinal; QL; Qualitative; Qual; Scr; Scn; Scrn; New born
ru-RU	Russian (Russian Federation)	Новорождённый слух скрин:Произв:ТчкВрм:Ухо.правое:Пор: Synonyms: Порядковый Произвольный Точка во времени;Момент
zh-CN	Chinese (China)	新生儿听力筛查:任意型:时间点:耳.右侧:序数型: Synonyms: R RT 任意;任意的;人工型依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型历史纪录与体格检查历史纪录与体格检查.历史记录;历史纪录与体格检查.历史记录类;历史纪录与体格检查.历史记录类别;历史纪录与体格检查.病史;历史纪录与体格检查.病史类;历史纪录与体格检查.病史类别;历史纪录与体格检查.病史记录;历史纪录与体格检查.病史记录类;历史纪录与体格检查.病史记录类别;历史纪录与体格检查小节.历史记录;历史纪录与体格检查小节.历史记录类;历史纪录与体格检查小节.历史记录类别;历史纪录与体格检查小节.病史;历史纪录与体格检查小节.病史类;历史纪录与体格检查小节.病史类别历史纪录与体格检查小节右右侧（Right，R，RT）右侧的右向右向的右耳右边右边的向右向右的听觉新生儿听力（听觉）筛查时刻;随机;随意;瞬间病史与体格检查筛查筛查试验筛选试验耳朵;耳部过筛过筛试验

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

73743-7 Screening duration of Ear - right

Term Description

The duration of screening [right ear] indicates the length of time taken to perform the right ear newborn hearing screen.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Screening duration
Property: Time
Time: Pt
System: Ear.right
Scale: Qn
Method

Additional Names

Short Name: Screen dur Ear-R

Basic Attributes

Class: H&P.PX
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.52
Change Reason: Changed Component name from 'Duration of screening' for consistency across terms and better term sorting.
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54111-0	Newborn hearing screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Duración del cribado:Tiempo:Punto temporal:Oído derecho:Cuantitativo:
it-IT	Italian (Italy)	Durata dello screening:Tempo:Pt:Orecchio.destro:Qn: Synonyms: Esame obbiettivo Orecchio Destro Punto nel tempo (episodio) Tempo (e.g. secondi)
ru-RU	Russian (Russian Federation)	Продолжительность скринига:Время:ТчкВрм:Ухо.правое:Колич: Synonyms: Время (в т.ч. в секундах) Количественный Точка во времени;Момент
zh-CN	Chinese (China)	筛查持续时间:时间:时间点:耳.右侧:定量型: Synonyms: Asympt R RT SCN 体格检查小节与指标;体格检查小节与测量指标;历史纪录与体格检查.体格检查小节与指标;历史纪录与体格检查.体格检查小节与测量指标;历史纪录与体格检查小节.体格检查小节与指标;历史纪录与体格检查小节.体格检查小节与测量指标;病史与体格检查.体格检查小节与指标;病史与体格检查.体格检查小节与测量指标;病史与体格检查小节.体格检查小节与指标历史纪录与体格检查历史纪录与体格检查小节可用数量表示的;定量性;数值型;数量型;连续数值型标尺右右侧（Right，R，RT）右侧的右向右向的右耳右边右边的向右向右的持续时长;时长;时间长度;为时;为期;历时;延续时间;持久时间无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间时间(如秒);时间(如秒数) 普查普查试验病史与体格检查筛分筛分试验筛查（Screening，SCN）筛查（筛选、过筛、筛检）持续时间（持续时长、时长、时间长度、时间、时间长短、为时、为期、历时、延续时间、持久时间、持续期）筛查试验筛选筛选试验耳朵;耳部

Example Units

Unit	Source
min	Example UCUM Units

73742-9 Newborn hearing screen reason not performed of Ear - right

Term Description

Newborn hearing screening is universally mandated in the United States. Newborn hearing screen reason not performed explains why, in certain circumstances, the screening was not done for a particular infant.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Newborn hearing screen reason not performed
Property: Find
Time: Pt
System: Ear.right
Scale: Nom
Method

Additional Names

Short Name: NBS reason not prfmed Ear-R

Basic Attributes

Class: H&P.PX
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.52
Order vs. Observation: Observation

Example Answer List LL2769-9

Answer	Code	Score	Answer ID
Attempted, but unsuccessful - technical fail Copyright http://snomed.info/sct ID:103709008 Failed attempted procedure (situation)			LA12408-3
Not performed, medical exclusion - not indicated Copyright http://snomed.info/sct ID:410534003 Not indicated (qualifier value)			LA12409-1
Patient died Copyright http://snomed.info/sct ID:397709008 Patient died (finding)			LA20644-3
Parental refusal Copyright http://snomed.info/sct ID:609589008 Refused by parents of subject (qualifier value)			LA6644-4
Procedure refused for religious reason Copyright http://snomed.info/sct ID:183945002 Procedure declined for religious reason (situation)			LA20643-5

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54111-0	Newborn hearing screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Razón de la prueba de audición del recién nacido no realizada:Tipo:Punto temporal:Oído derecho:Nominal:
it-IT	Italian (Italy)	Neonato, screening udito, motivo per cui non è stato eseguito:Osservazione:Pt:Orecchio.destro:Nom: Synonyms: Esame obbiettivo Motivo per cui non è stato eseguito lo screening u Orecchio Destro Osservazione Punto nel tempo (episodio) Screening uditivo del neonato Udito del neonato
ru-RU	Russian (Russian Federation)	Новорождённого слух скрин причина не выполнен:Находка:ТчкВрм:Ухо.правое:Ном: Synonyms: Номинальный;Именной Причина, по которой не выполнен скрин слуха новорождённого Точка во времени;Момент
zh-CN	Chinese (China)	关于未进行新生儿听力筛查的原因:发现:时间点:耳.右侧:名义型: Synonyms: R RT 体格检查小节与指标;体格检查小节与测量指标;历史纪录与体格检查.体格检查小节与指标;历史纪录与体格检查.体格检查小节与测量指标;历史纪录与体格检查小节.体格检查小节与指标;历史纪录与体格检查小节.体格检查小节与测量指标;病史与体格检查.体格检查小节与指标;病史与体格检查.体格检查小节与测量指标;病史与体格检查小节.体格检查小节与指标关于未执行（完成、开展、进行、做、检查、履行）新生儿听力（听觉）筛查的原因（理由）分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答历史纪录与体格检查历史纪录与体格检查小节发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论右右侧（Right，R，RT）右侧的右向右向的右耳右边右边的向右向右的听觉新生儿听力（听觉）筛查时刻;随机;随意;瞬间病史与体格检查筛查筛查试验筛选试验耳朵;耳部过筛过筛试验

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

73805-4 CCHD newborn screening panel

Term Description

The critical congenital heart disease (CCHD) newborn screening panel was developed by the National Library of Medicine in conjunction with the Health Resources and Services Administration (HRSA), Oz Systems, and Children's National Medical Center with input from several state public health newborn screening programs.
Source: Regenstrief LOINC

Fully-Specified Name

Component: CCHD newborn screening panel
Property: -
Time: Pt
System: ^Patient
Scale: -
Method

Additional Names

Short Name: CCHD NBS Pnl

Basic Attributes

Class: PANEL.H&P
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.77
Order vs. Observation: Order
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Panel de cribado neonatal de CCHD:-:Punto temporal:^ Paciente:-:
it-IT	Italian (Italy)	CCHD neonato, screening, panel:-:Pt:^Paziente:-: Synonyms: Panel screening neonatale Panel screening neonato CCHD paziente Punto nel tempo (episodio) Set di prescrizione per anamnesi e esame obiettivo
ru-RU	Russian (Russian Federation)	CCHD новорождённых скрининг панель:-:ТчкВрм:^Пациент:-: Synonyms: Точка во времени;Момент
zh-CN	Chinese (China)	CCHD 新生儿筛查组套:-:时间点:^患者:-: Synonyms: Asympt CCHD 新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;Critical Congenital Heart Defect;Critical Congenital Heart Disease;CCHD;危重先天性心脏病;危重先天性心脏缺陷 SCN 医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.病史与体格检查小节;组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）.历史纪录与体格检查;医嘱组.历史纪录与体格检查小节;医嘱组.病史与体格检查;历史纪录与体格检查医嘱组;历史纪录与体格检查医嘱组类;历史纪录与体格检查小节医嘱组;历史纪录与体格检查小节医嘱组类;病史与体格检查医嘱组;病史与体格检查医嘱组类;病史与体格检查小节医嘱组;病史与体格检查小节医嘱组类医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类医疗服务对象;客户;病人;病患;病号;超系统 - 病人历史纪录与体格检查历史纪录与体格检查小节多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验医嘱组合类检验项目医嘱组合类检验项目组合类病史与体格检查筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验组组合组合医嘱组合类组套

73700-7 CCHD newborn screening interpretation

Term Description

The critical congenital heart defects (CCHD) newborn screening interpretation is the end result of the screening event and is based on the preductal and postductal oxygen saturation measurements as well as the difference between the preductal and postductal measurement. The interpretation will also depend on the particular protocol used for screening.
Source: Regenstrief LOINC

Fully-Specified Name

Component: CCHD newborn screening interpretation
Property: Imp
Time: Pt
System: ^Patient
Scale: Nom
Method

Additional Names

Short Name: CCHD NBS interp

Basic Attributes

Class: H&P.PX
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation

Preferred Answer List LL2453-0

Answer	Code	Score	Answer ID
In range			LA18592-8
Out of range			LA18593-6
Inconclusive, repeat screen needed			LA19816-0
Attempted but unsuccessful - technical fail			LA19817-8
Not performed Copyright http://snomed.info/sct ID:262008008 Not performed (qualifier value)			LA7304-4

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Interpretación del cribado neonatal de CCHD:Interpretación:Punto temporal:^ Paciente:Nominal:
it-IT	Italian (Italy)	CCHD neonato, screening, interpretazione:Imp:Pt:^Paziente:Nom: Synonyms: Esame obbiettivo Impressione/interpretazione di studio Interpretazione dello screening neonato CCHD paziente Punto nel tempo (episodio)
ru-RU	Russian (Russian Federation)	CCHD новорождённого скрининг интерпретация:Впчт:ТчкВрм:^Пациент:Ном: Synonyms: Впечатление/интерпретация исследования Номинальный;Именной Точка во времени;Момент
zh-CN	Chinese (China)	CCHD 新生儿筛查解释:印象:时间点:^患者:名义型: Synonyms: Asympt CCHD 新生儿（NB）筛查（筛选、过筛、筛检）解释;Critical Congenital Heart Defect;Critical Congenital Heart Disease;CCHD;危重先天性心脏病;危重先天性心脏缺陷 SCN 体格检查小节与指标;体格检查小节与测量指标;历史纪录与体格检查.体格检查小节与指标;历史纪录与体格检查.体格检查小节与测量指标;历史纪录与体格检查小节.体格检查小节与指标;历史纪录与体格检查小节.体格检查小节与测量指标;病史与体格检查.体格检查小节与指标;病史与体格检查.体格检查小节与测量指标;病史与体格检查小节.体格检查小节与指标分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答判读;解释说明;说明;释义;阐明医疗服务对象;客户;病人;病患;病号;超系统 - 病人印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释历史纪录与体格检查历史纪录与体格检查小节无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验病史与体格检查筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

73696-7 Oxygen saturation.preductal-oxygen saturation.postductal [Mass fraction difference] in Bld.preductal and Bld.postductal

Term Description

This term represents the quantitative difference between the preductal and postductal oxygen saturation measurements and is used in conjunction with the two measurements to determine the end result of the screening event, such as for critical congenital heart defects (CCHD) in newborns.
Source: Regenstrief LOINC

Part Descriptions

LP172627-4 Oxygen saturation.preductal-oxygen saturation.postductal
Oxygen saturation (sO2) is defined as the ratio of oxyhemoglobin to "active" hemoglobin (oxyhemoglobin + deoxyhemoglobin). Some say the term oxygen saturation has been erroneously redefined with a denominator of "total" instead of "active" hemoglobin, an ambiguity that can sometimes create confusion when viewing reported values from different instruments (Anesth Analg. 2007 Dec;105(6 Suppl):S5-9.) Oxygen saturation is commonly measured by blood gas analyzers and pulse oximetry. Source: Regenstrief LOINC

Fully-Specified Name

Component: Oxygen saturation.preductal-oxygen saturation.postductal
Property: MFrDiff
Time: Pt
System: Bld.preductal+Bld.postductal
Scale: Qn
Method

Additional Names

Short Name: SaO2%.pre-post MFrDiff Bld.pre+post

Basic Attributes

Class: CARDIO-PULM
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.73
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Saturación de oxígeno, saturación de oxígeno preductal, postductal:MFrDiff:Punto temporal:Edificio preductal + Edificio postductal:Cuantitativo:
it-IT	Italian (Italy)	Ossigeno, sensore di saturazione.preduttale-saturazione ossigeno.post duttale:MFrDiff:Pt:Sangue.preduttale+Sangue.postduttale:Qn: Synonyms: Cardiopolmonare Differenza frazione di massa Gestione ventilazione polmonare Punto nel tempo (episodio) Sangue Sangue postduttale Sangue preduttale Sangue preduttale e Sangue postduttale
pt-BR	Portuguese (Brazil)	Saturação de oxigênio.pré ductal-saturação de oxigênio.pós ductal::Pt:Sg pré ductal+Sg pós ductal:Qn:
ru-RU	Russian (Russian Federation)	Кислород сатурация.до протока - кислород сатурация.после протока:МасДоляРазн:ТчкВрм:Кр.до протока+Кр.после протока:Колич: Synonyms: Количественный Кровь Массовых фракций разность Насыщение кислородом Точка во времени;Момент
zh-CN	Chinese (China)	氧饱和度.导管前-氧饱和度.导管后:质量分数差:时间点:全血.导管前+全血.导管后:定量型: Synonyms: O2;tO2;总氧;氧气全血.导管之前;导管之前的全血;导管之前的血液;导管前全血;导管前血;导管前血液;血.导管前;血液.导管之前;血液.导管前全血.导管之前+全血.导管之后;导管之前与导管之后的全血;导管之前与导管之后的血液;导管前与导管后全血;导管前与导管后血;导管前与导管后血液;血.导管前+血.导管后;血液.导管之前+血液.导管之后;血液.导管前+血液.导管后全血.导管之后;导管之后的全血;导管之后的血液;导管后全血;导管后血;导管后血液;血.导管后;血液.导管之后;血液.导管后可用数量表示的;定量性;数值型;数量型;连续数值型标尺导管前氧饱和度-导管后氧饱和度心肺;心肺机能时刻;随机;随意;瞬间肺部测量指标与呼吸机管理血;血液质量分数差（差值、差异、差别、差额、区别）;重量分数差值;重量分数差饱和饱和状态饱和程度

Example Units

Unit	Source
%	Example UCUM Units

Related Codes

Code System	Code	Code Text	Code Version
urn:iso:std:iso:11073:10101	160304	MDC_PULS_OXIM_SAT_O2_ART_PRE_POST_DIFF

73806-2 Newborn age in hours

Term Description

Age of the newborn reported in hours.
Source: Regenstrief LOINC

Fully-Specified Name

Component: Newborn age in hours
Property: Time
Time: Pt
System: ^Patient
Scale: Qn
Method

Additional Names

Short Name: Nwbrn age hours

Basic Attributes

Class: H&P.PX
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.52
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Edad del recién nacido en horas:Tiempo:Punto temporal:^ Paciente:Cuantitativo:
it-IT	Italian (Italy)	Neonato, età in ore:Tempo:Pt:^Paziente:Qn: Synonyms: Esame obbiettivo Età in ore del neonato paziente Punto nel tempo (episodio) Tempo (e.g. secondi)
ru-RU	Russian (Russian Federation)	Новорождённый возраст в часах:Время:ТчкВрм:^Пациент:Колич: Synonyms: Время (в т.ч. в секундах) Количественный Точка во времени;Момент
zh-CN	Chinese (China)	按小时数计算的新生儿年龄:时间:时间点:^患者:定量型: Synonyms: 体格检查小节与指标;体格检查小节与测量指标;历史纪录与体格检查.体格检查小节与指标;历史纪录与体格检查.体格检查小节与测量指标;历史纪录与体格检查小节.体格检查小节与指标;历史纪录与体格检查小节.体格检查小节与测量指标;病史与体格检查.体格检查小节与指标;病史与体格检查.体格检查小节与测量指标;病史与体格检查小节.体格检查小节与指标医疗服务对象;客户;病人;病患;病号;超系统 - 病人历史纪录与体格检查历史纪录与体格检查小节可用数量表示的;定量性;数值型;数量型;连续数值型标尺新生儿年龄小时数;小时数新生儿年龄时刻;随机;随意;瞬间时间(如秒);时间(如秒数) 病史与体格检查

Example Units

Unit	Source
h	Example UCUM Units

73699-1 Number of prior CCHD screens [#] Qualitative

Term Description

Most infants will have an in-range result on their initial critical congenital heart defects (CCHD) screen and will not need to be re-screened. However, if the first screen is inconclusive, the screen should be repeated per protocol, and the number of prior CCHD screens is important for interpreting the overall screening result. The number of previous screens is also important for documenting whether the screen is the initial screen or a repeat.
Source: Regenstrief LOINC

Fully-Specified Name

Component: Number of prior CCHD screens
Property: Num
Time: Pt
System: ^Patient
Scale: Ord
Method

Additional Names

Short Name: Num CCHD screen Patient Ql
Display Name: Number of prior CCHD screens Ql
Consumer Name Alpha Get Info: Number of Prior CCHD Screens

Basic Attributes

Class: H&P.HX.LAB
Type: Laboratory
First Released: Version 2.44
Last Updated: Version 2.52
Order vs. Observation: Observation

Example Answer List LL2454-8

Answer	Code	Score	Answer ID
0			LA6111-4
1			LA6112-2
2			LA6113-0
3 or more			LA19812-9
Unknown Copyright http://snomed.info/sct ID:261665006 Unknown (qualifier value)			LA4489-6

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Número previo de cribados CCHD:Número (recuento):Punto temporal:^paciente:Ord:
es-MX	Spanish (Mexico)	Número de pantallas de CCHD anteriores:Número (recuento):Punto temporal:^ Paciente:Ordinal:
it-IT	Italian (Italy)	Numero di screening CCHD precedenti:Num:Pt:^Paziente:Ord: Synonyms: Anamnesi Anamnesi pertinente a esami di laboratorio Numero (conta) Numero di screening per cardiopatia congenita crit paziente Punto nel tempo (episodio)
ru-RU	Russian (Russian Federation)	Количество предыдущих CCHD скринов:Кол:ТчкВрм:^Пациент:Пор: Synonyms: Количество Количество предыдущих Врождённых Пороков Сердца (CCHD) скринов Порядковый Точка во времени;Момент
tr-TR	Turkish (Turkey)	Önceki CCHD tarama sayısı:Say:Zmlı:^Hasta:Srl:
zh-CN	Chinese (China)	既往 CCHD 筛查数量:数量(计数):时间点:^患者:序数型: Synonyms: 个数;数目个数;数量;数量或计数（非负整数）;计数依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型化验室化验科医疗服务对象;客户;病人;病患;病号;超系统 - 病人历史纪录与体格检查历史纪录与体格检查.历史记录;历史纪录与体格检查.历史记录类;历史纪录与体格检查.历史记录类别;历史纪录与体格检查.病史;历史纪录与体格检查.病史类;历史纪录与体格检查.病史类别;历史纪录与体格检查.病史记录;历史纪录与体格检查.病史记录类;历史纪录与体格检查.病史记录类别;历史纪录与体格检查小节.历史记录;历史纪录与体格检查小节.历史记录类;历史纪录与体格检查小节.历史记录类别;历史纪录与体格检查小节.病史;历史纪录与体格检查小节.病史类;历史纪录与体格检查小节.病史类别历史纪录与体格检查小节实验室实验室类别既往 CCHD 筛查次数;Critical Congenital Heart Defect;Critical Congenital Heart Disease;CCHD;危重先天性心脏病;危重先天性心脏缺陷时刻;随机;随意;瞬间检验科病史（历史记录、历史、史）与体格检查（身体检查、查体、PX、体格检查结果）.病史（历史记录、历史、史）.实验室（实验室检验项目、检验项目、检验、检验医学、化验项目、化验）病史与体格检查

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

73804-7 Oxygen saturation sensor name

Term Description

The sensor name includes the brand and model of the specific sensor used for the screening event.
Source: Regenstrief LOINC

Fully-Specified Name

Component: Oxygen saturation sensor name
Property: ID
Time: Pt
System: Oxygen saturation device
Scale: Nom
Method

Additional Names

Short Name: SaO2% Device SaO2% sensor name

Basic Attributes

Class: DEVICES
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.52
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Nombre del sensor de saturación de oxígeno:ID:Punto temporal:Dispositivo de saturación de oxígeno:Nominal:
it-IT	Italian (Italy)	Ossigeno, nome sensore di saturazione:ID:Pt:Ossigeno, dispositivo controllo saturazione:Nom: Synonyms: Dispositivi medici Identificatore Punto nel tempo (episodio) Strumento di controllo della saturazione di ossige
ru-RU	Russian (Russian Federation)	Кислород сатурация датчик наименование:ID:ТчкВрм:Кислород сатурация устройство:Ном: Synonyms: Идентификатор Насыщение кислородом Номинальный;Именной Точка во времени;Момент Устройство сатурации кислородом
zh-CN	Chinese (China)	氧饱和度传感器名称:标识符:时间点:氧饱和度装置:名义型: Synonyms: O2;tO2;总氧;氧气分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答姓名;名字;名时刻;随机;随意;瞬间标识;身份标识符;身份标识氧饱和度传感器（氧饱和度探测器、血氧饱和度探头、血氧计探头、血氧探头、血氧传感器、血氧仪探头）名称装置;设备;仪器饱和饱和状态饱和程度

73803-9 Oxygen saturation sensor type

Term Description

The sensor type indicates whether the sensor is single-use (disposable) or reusable.
Source: Regenstrief LOINC

Fully-Specified Name

Component: Oxygen saturation sensor type
Property: Type
Time: Pt
System: Oxygen saturation device
Scale: Nom
Method

Additional Names

Short Name: SaO2% Device SaO2% sensor type

Basic Attributes

Class: DEVICES
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.52
Order vs. Observation: Observation

Example Answer List LL2455-5

Answer	Code	Score	Answer ID
Disposable			LA19810-3
Reusable			LA19811-1

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Tipo de sensor de saturación de oxígeno:Tipo:Punto temporal:Dispositivo de saturación de oxígeno:Nominal:
it-IT	Italian (Italy)	Ossigeno, tipo sensore di saturazione:Tipo:Pt:Ossigeno, dispositivo controllo saturazione:Nom: Synonyms: Dispositivi medici Punto nel tempo (episodio) Strumento di controllo della saturazione di ossige
ru-RU	Russian (Russian Federation)	Кислород сатурация датчик тип:Тип:ТчкВрм:Кислород сатурация устройство:Ном: Synonyms: Насыщение кислородом Номинальный;Именной Точка во времени;Момент Устройство сатурации кислородом
zh-CN	Chinese (China)	氧饱和度传感器类型:类型:时间点:氧饱和度装置:名义型: Synonyms: O2;tO2;总氧;氧气分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答型时刻;随机;随意;瞬间氧饱和度传感器（氧饱和度探测器、血氧饱和度探头、血氧计探头、血氧探头、血氧传感器、血氧仪探头）类型（类别、种类、分类）装置;设备;仪器饱和饱和状态饱和程度

73802-1 Oxygen saturation sensor wrap name

Term Description

The sensor wrap name includes brand (and model) of the specific sensor wrap used for the screening event.
Source: Regenstrief LOINC

Fully-Specified Name

Component: Oxygen saturation sensor wrap name
Property: ID
Time: Pt
System: Oxygen saturation device
Scale: Nom
Method

Additional Names

Short Name: SaO2% Device SaO2% sens wrap name

Basic Attributes

Class: DEVICES
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.52
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Nombre de la envoltura del sensor de saturación de oxígeno:ID:Punto temporal:Dispositivo de saturación de oxígeno:Nominal:
it-IT	Italian (Italy)	Ossigeno, sensore di saturazione, wrap, nome:ID:Pt:Ossigeno, dispositivo controllo saturazione:Nom: Synonyms: Dispositivi medici Identificatore Punto nel tempo (episodio) Strumento di controllo della saturazione di ossige
ru-RU	Russian (Russian Federation)	Кислород сатурация датчик оболочка наименование:ID:ТчкВрм:Кислород сатурация устройство:Ном: Synonyms: Идентификатор Насыщение кислородом Номинальный;Именной Точка во времени;Момент Устройство сатурации кислородом
zh-CN	Chinese (China)	氧饱和度传感器绑带名称:标识符:时间点:氧饱和度装置:名义型: Synonyms: O2;tO2;总氧;氧气分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答姓名;名字;名时刻;随机;随意;瞬间标识;身份标识符;身份标识氧饱和度传感器（氧饱和度探测器、血氧饱和度探头、血氧计探头、血氧探头、血氧传感器、血氧仪探头）绑带（扎带、指套、包套、固定带）名称装置;设备;仪器饱和饱和状态饱和程度

73801-3 Oxygen saturation sensor wrap type

Term Description

The sensor wrap type indicates whether the wrap is made out of cloth, foam, or velcro.
Source: Regenstrief LOINC

Fully-Specified Name

Component: Oxygen saturation sensor wrap type
Property: Type
Time: Pt
System: Oxygen saturation device
Scale: Nom
Method

Additional Names

Short Name: SaO2% Device SaO2% sensor wrp type

Basic Attributes

Class: DEVICES
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.52
Order vs. Observation: Observation

Normative Answer List LL2456-3

Answer	Code	Score	Answer ID
Cloth			LA19813-7
Foam			LA16576-3
Velcro			LA19814-5

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Tipo de envoltura del sensor de saturación de oxígeno:Tipo:Punto temporal:Dispositivo de saturación de oxígeno:Nominal:
it-IT	Italian (Italy)	Ossigeno, sensore di saturazione, wrap, tipo:Tipo:Pt:Ossigeno, dispositivo controllo saturazione:Nom: Synonyms: Dispositivi medici Punto nel tempo (episodio) Strumento di controllo della saturazione di ossige
ru-RU	Russian (Russian Federation)	Кислород сатурация датчик оболочка тип:Тип:ТчкВрм:Кислород сатурация устройство:Ном: Synonyms: Насыщение кислородом Номинальный;Именной Точка во времени;Момент Устройство сатурации кислородом
zh-CN	Chinese (China)	氧饱和度传感器绑带类型:类型:时间点:氧饱和度装置:名义型: Synonyms: O2;tO2;总氧;氧气分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答型时刻;随机;随意;瞬间氧饱和度传感器（氧饱和度探测器、血氧饱和度探头、血氧计探头、血氧探头、血氧传感器、血氧仪探头）绑带（扎带、指套、包套、固定带）类型（类别、种类、分类）装置;设备;仪器饱和饱和状态饱和程度

73800-5 Oxygen saturation sensor wrap size

Term Description

The sensor wrap size indicates the size of the wrap. Examples include adult, pediatric, small, medium, large, or weight ranges.
Source: Regenstrief LOINC

Fully-Specified Name

Component: Oxygen saturation sensor wrap size
Property: Type
Time: Pt
System: Oxygen saturation device
Scale: Nom
Method

Additional Names

Short Name: SaO2% Device SaO2% sensor wrap size

Basic Attributes

Class: DEVICES
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.52
Order vs. Observation: Observation

Example Answer List LL2457-1

Answer	Code	Score	Answer ID
Adult			LA13524-6
Pediatric			LA19834-3
Small Copyright http://snomed.info/sct ID:255507004 Small (qualifier value)			LA8983-4
Medium			LA8982-6
Large Copyright http://snomed.info/sct ID:255509001 Large (qualifier value)			LA8981-8

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Tamaño de la envoltura del sensor de saturación de oxígeno:Tipo:Punto temporal:Dispositivo de saturación de oxígeno:Nominal:
it-IT	Italian (Italy)	Ossigeno, sensore di saturazione, wrap, dimensione:Tipo:Pt:Ossigeno, dispositivo controllo saturazione:Nom: Synonyms: Dispositivi medici Punto nel tempo (episodio) Strumento di controllo della saturazione di ossige
ru-RU	Russian (Russian Federation)	Кислород сатурация датчик оболочка размер:Тип:ТчкВрм:Кислород сатурация устройство:Ном: Synonyms: Насыщение кислородом Номинальный;Именной Точка во времени;Момент Устройство сатурации кислородом
zh-CN	Chinese (China)	氧饱和度传感器绑带尺寸:类型:时间点:氧饱和度装置:名义型: Synonyms: O2;tO2;总氧;氧气分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答型尺寸时刻;随机;随意;瞬间氧饱和度传感器（氧饱和度探测器、血氧饱和度探头、血氧计探头、血氧探头、血氧传感器、血氧仪探头）绑带（扎带、指套、包套、固定带）尺寸（大小、型号）装置;设备;仪器饱和饱和状态饱和程度

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

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73697-5 CCHD newborn screening protocol used [Type]

Term Description

Critical congenital heart disease (CCHD) screening protocol defines the specific screening process used, including the specific steps and timing of oxygen saturation measurements and guidelines for interpreting the results based on the measurements and the difference in the measurements. Different screening protocols can vary in terms of saturation cutoffs for in-range versus out-of-range results as well as how the difference in preductal and postductal measurements is used. These differences may partly be based on the altitude at which screening is performed since the altitude impacts oxygen saturation measurements. The protocol description should be clear and allow any receiver to interpret the CCHD result based on the specific screening data.
Source: Regenstrief LOINC

Fully-Specified Name

Component: CCHD newborn screening protocol used
Property: Type
Time: Pt
System: ^Patient
Scale: Nar
Method

Additional Names

Short Name: CCHD NBS used Patient
Display Name: CCHD NBS protocol used Nar
Consumer Name Alpha Get Info: CCHD NBS Protocol Used

Basic Attributes

Class: H&P.HX.LAB
Type: Laboratory
First Released: Version 2.44
Last Updated: Version 2.73
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Protocolo de screening usado en recién nacidos CCHD:Tipo:Punto temporal:^paciente:Narrativo:
es-MX	Spanish (Mexico)	Protocolo de cribado neonatal de CCHD utilizado:Tipo:Punto temporal:^ Paciente:Narrativo:
it-IT	Italian (Italy)	CCHD neonato, screening, protocollo usato:Tipo:Pt:^Paziente:Nar: Synonyms: Anamnesi Anamnesi pertinente a esami di laboratorio paziente Punto nel tempo (episodio)
ru-RU	Russian (Russian Federation)	CCHD новорождённого скрининг протокол использован:Тип:ТчкВрм:^Пациент:Опис: Synonyms: Описательный Точка во времени;Момент
tr-TR	Turkish (Turkey)	CCHD yenidoğan tarama protokolü, kullanılan:Tip:Zmlı:^Hasta:Öykü: Synonyms: Tür
zh-CN	Chinese (China)	所采用的 CCHD 新生儿筛查方案:类型:时间点:^患者:叙述型: Synonyms: Asympt SCN 化验室化验科医疗服务对象;客户;病人;病患;病号;超系统 - 病人历史纪录与体格检查历史纪录与体格检查.历史记录;历史纪录与体格检查.历史记录类;历史纪录与体格检查.历史记录类别;历史纪录与体格检查.病史;历史纪录与体格检查.病史类;历史纪录与体格检查.病史类别;历史纪录与体格检查.病史记录;历史纪录与体格检查.病史记录类;历史纪录与体格检查.病史记录类别;历史纪录与体格检查小节.历史记录;历史纪录与体格检查小节.历史记录类;历史纪录与体格检查小节.历史记录类别;历史纪录与体格检查小节.病史;历史纪录与体格检查小节.病史类;历史纪录与体格检查小节.病史类别历史纪录与体格检查小节叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型型实验室实验室类别所使用的方案;已使用的方案;已采用的方案所采用的（所使用的、所用的） CCHD 新生儿（NB）筛查（筛选、过筛、筛检）方案;Critical Congenital Heart Defect;Critical Congenital Heart Disease;CCHD;危重先天性心脏病;危重先天性心脏缺陷无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验科病史（历史记录、历史、史）与体格检查（身体检查、查体、PX、体格检查结果）.病史（历史记录、历史、史）.实验室（实验室检验项目、检验项目、检验、检验医学、化验项目、化验）病史与体格检查筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验

73698-3 Reason CCHD oxygen saturation screening not performed

Term Description

Virtually every infant born in the hospital in the United States should have critical congenital heart defects (CCHD) oxygen saturation screening. However, there are some cases in which screening was not appropriate or was not done for other reasons. This term is meant to capture the reason that screening was not performed in those rare instances that an infant did not get screened.
Source: Regenstrief LOINC

Fully-Specified Name

Component: Reason CCHD oxygen saturation screening not performed
Property: Find
Time: Pt
System: ^Patient
Scale: Nom
Method

Additional Names

Short Name: CCHD SaO2 scrn not prfrmd

Basic Attributes

Class: H&P.PX
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.56
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation

Preferred Answer List LL2458-9

Answer	Code	Score	Answer ID
Prior prenatal diagnosis of CCHD			LA19819-4
Prior postnatal diagnosis of CCHD			LA19820-2
Early discharge			LA19821-0
Transfer prior to screening			LA19822-8
Infant in NICU			LA19823-6
Medically unstable and inappropriate for screen			LA19824-4
Receiving supplemental oxygen			LA19825-1
Infant deceased			LA19826-9
Parental refusal based on religious beliefs			LA19827-7
Parental refusal for reasons other than religious beliefs			LA19828-5
Equipment failure			LA7497-6
Diagnostic testing begun in lieu of screening based on clinical suspicion for CCHD			LA20946-2
Infant being monitored or treated for non-CCHD condition			LA20947-0
Comfort care only			LA25798-2
Echocardiography normal			LA25799-0
Missed/not documented			LA25800-6
Other, Please describe			LA46-8

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Razón por la que no se realizó el cribado de saturación de oxígeno de la CCHD:Tipo:Punto temporal:^ Paciente:Nominal:
it-IT	Italian (Italy)	Motivo per cui non è stato eseguito lo screening della saturazione di ossigeno per difetti cardiaci congeniti critici:Osservazione:Pt:^Paziente:Nom: Synonyms: Esame obbiettivo Osservazione paziente Punto nel tempo (episodio)
ru-RU	Russian (Russian Federation)	Причина CCHD кислорода сатурации скрининг не выполнен:Находка:ТчкВрм:^Пациент:Ном: Synonyms: Насыщение кислородом Номинальный;Именной Точка во времени;Момент
zh-CN	Chinese (China)	未进行 CCHD 氧饱和度筛查的原因:发现:时间点:^患者:名义型: Synonyms: Asympt O2;tO2;总氧;氧气 SCN 体格检查小节与指标;体格检查小节与测量指标;历史纪录与体格检查.体格检查小节与指标;历史纪录与体格检查.体格检查小节与测量指标;历史纪录与体格检查小节.体格检查小节与指标;历史纪录与体格检查小节.体格检查小节与测量指标;病史与体格检查.体格检查小节与指标;病史与体格检查.体格检查小节与测量指标;病史与体格检查小节.体格检查小节与指标分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答医疗服务对象;客户;病人;病患;病号;超系统 - 病人历史纪录与体格检查历史纪录与体格检查小节发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验未执行（完成、开展、进行、做、检查、履行） CCHD 氧饱和度筛查的原因（理由）;Critical Congenital Heart Defect;Critical Congenital Heart Disease;CCHD;危重先天性心脏病;危重先天性心脏缺陷病史与体格检查筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验饱和饱和状态饱和程度

59407-7 Oxygen saturation in Blood Preductal by Pulse oximetry

Part Descriptions

LP21258-6 Oxygen saturation
Oxygen saturation (sO2) is defined as the ratio of oxyhemoglobin to "active" hemoglobin (oxyhemoglobin + deoxyhemoglobin). Some say the term oxygen saturation has been erroneously redefined with a denominator of "total" instead of "active" hemoglobin, an ambiguity that can sometimes create confusion when viewing reported values from different instruments (Anesth Analg. 2007 Dec;105(6 Suppl):S5-9.) Oxygen saturation is commonly measured by blood gas analyzers and pulse oximetry. Source: Regenstrief LOINC

Fully-Specified Name

Component: Oxygen saturation
Property: MFr
Time: Pt
System: Bld.preductal
Scale: Qn
Method: Pulse oximetry

Additional Names

Short Name: SaO2 % Bld Preductal PulseOx

Basic Attributes

Class: PULM
Type: Clinical
First Released: Version 2.32
Last Updated: Version 2.73

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Member of these Groups Get Info

LOINC Group	Group Name
LG33051-0	Oxygen saturation\|MFr\|Pt\|Chal:None

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Saturación de oxígeno:Sr.:Punto temporal:Edificio preductal:Cuantitativo:Pulse oximetry
fr-CA	French (Canada)	Saturation en oxygène:Fraction de masse:Temps ponctuel:Sang.préductal:Quantitatif:Oxymétrie pulsée
fr-BE	French (Belgium)	Saturation en oxygène:Fraction de masse:Temps ponctuel:Sang.préductal:Quantitatif:Oxymétrie pulsée Synonyms: O2 SatO2
it-IT	Italian (Italy)	Saturazione dell'ossigeno:MFr:Pt:Sangue.preduttale:Qn:Pulsossimetria Synonyms: Frazione di massa Gestione ventilazione polmonare Punto nel tempo (episodio) Sangue Sangue preduttale
pt-BR	Portuguese (Brazil)	Saturação de Oxigênio::Pt:Sangue.preductal:Qn:Oximetria de pulso
ru-RU	Russian (Russian Federation)	Кислородом сатурация:МассДол:ТчкВрм:Кр.до протока:Колич:Пульсоксиметрия Synonyms: Количественный Кровь Массовая доля Насыщение кислородом Оксигемометрия;Гемоксиметрия Точка во времени;Момент
zh-CN	Chinese (China)	氧饱和度:质量分数:时间点:全血.导管前:定量型:脉搏血氧定量法 Synonyms: MFr O2;tO2;总氧;氧气全血.导管之前;导管之前的全血;导管之前的血液;导管前全血;导管前血;导管前血液;血.导管前;血液.导管之前;血液.导管前可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间肺部测量指标与呼吸机管理脉搏血氧测定法;脉搏血氧定量;脉搏血氧测定;脉搏血氧仪血;血液血氧测定法饱和饱和状态饱和程度

Example Units

Unit	Source
%	Example UCUM Units

Related Codes

Code System	Code	Code Text	Code Version
urn:iso:std:iso:11073:10101	160296	MDC_PULS_OXIM_SAT_O2_ART_PREDUCTAL

73799-9 Heart rate Blood Preductal Pulse oximetry

Term Description

Infant's heart rate as measured by the pulse oximeter during preductal oxygen saturation measurement. Preductal measurement indicates that the measurements are taken using a pulse oximetry device placed in an anatomical location whose blood supply originates from the aorta before the junction of the aorta with the ductus arteriosus (usually the right hand).
Source: Regenstrief LOINC

Fully-Specified Name

Component: Heart rate
Property: NRat
Time: Pt
System: Bld.preductal
Scale: Qn
Method: Pulse oximetry

Additional Names

Short Name: Heart rate Bld Preductal PulseOx
Consumer Name Alpha Get Info: Heart Rate, Preductal

Basic Attributes

Class: CARDIO-PULM
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.52
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Member of these Groups Get Info

LOINC Group	Group Name
LG33055-1	Heart rate\|NRat\|Pt\|Chal:None

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Ritmo cardiaco:NRat:Punto temporal:Edificio preductal:Cuantitativo:Pulse oximetry
it-IT	Italian (Italy)	Frequenza cardiaca:NRat:Pt:Sangue.preduttale:Qn:Pulsossimetria Synonyms: Cardiopolmonare Gestione ventilazione polmonare Indice numerico Punto nel tempo (episodio) Sangue Sangue preduttale
ru-RU	Russian (Russian Federation)	Частота сердечных сокращений:КолСкор:ТчкВрм:Кр.до протока:Колич:Пульсоксиметрия Synonyms: Количественный Количество скорость Кровь Оксигемометрия;Гемоксиметрия Точка во времени;Момент
zh-CN	Chinese (China)	心率:计数型速率:时间点:全血.导管前:定量型:脉搏血氧定量法 Synonyms: 全血.导管之前;导管之前的全血;导管之前的血液;导管前全血;导管前血;导管前血液;血.导管前;血液.导管之前;血液.导管前单位时间内的数量或计数;数量/时间;数量型速率;数量型速率或计数型速率;数量型速率或计数型速率(单位时间);数量或计数型速率;计数/时间;计数型速率(单位时间);数量或计数型速率(单位时间) 可用数量表示的;定量性;数值型;数量型;连续数值型标尺心搏率;心跳速率心肺;心肺机能时刻;随机;随意;瞬间肺部测量指标与呼吸机管理脉搏血氧测定法;脉搏血氧定量;脉搏血氧测定;脉搏血氧仪血;血液血氧测定法速度

Example Units

Unit	Source
/min	Example UCUM Units

73798-1 Perfusion index Blood Preductal Pulse oximetry

Term Description

The perfusion index measures the strength of the pulse and is the ratio of the pulsatile and nonpulsatile components of the pulse oximetry signal. Preductal measurement indicates that the measurements are taken using a pulse oximetry device placed in an anatomical location whose blood supply originates from the aorta before the junction of the aorta with the ductus arteriorsus (usually the right hand).
Source: Regenstrief LOINC

Fully-Specified Name

Component: Perfusion index
Property: Ratio
Time: Pt
System: Bld.preductal
Scale: Qn
Method: Pulse oximetry

Additional Names

Short Name: Perfusion index Bld Preductal PulseOx

Basic Attributes

Class: CARDIO-PULM
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.52
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Índice de perfusión:Proporción:Punto temporal:Edificio preductal:Cuantitativo:Pulse oximetry
it-IT	Italian (Italy)	Espansione, indice:Rapporto:Pt:Sangue.preduttale:Qn:Pulsossimetria Synonyms: Cardiopolmonare Gestione ventilazione polmonare Indice di espansione Punto nel tempo (episodio) Sangue Sangue preduttale
ru-RU	Russian (Russian Federation)	Перфузионный индекс:Отношение:ТчкВрм:Кр.до протока:Колич:Пульсоксиметрия Synonyms: Количественный Коэффициент;Соотношение;Пропорция Кровь Оксигемометрия;Гемоксиметрия Точка во времени;Момент
zh-CN	Chinese (China)	灌注指数:比率:时间点:全血.导管前:定量型:脉搏血氧定量法 Synonyms: PF 全血.导管之前;导管之前的全血;导管之前的血液;导管前全血;导管前血;导管前血液;血.导管前;血液.导管之前;血液.导管前可用数量表示的;定量性;数值型;数量型;连续数值型标尺心肺;心肺机能时刻;随机;随意;瞬间来自于不同体系的两个观察指标之比;比;比值灌注法灌流（Perfusion，PF）肺部测量指标与呼吸机管理脉搏血氧测定法;脉搏血氧定量;脉搏血氧测定;脉搏血氧仪血;血液血氧测定法血流灌注;血流量血流灌注指数;灌注（血流灌注、血流量）指数

Example Units

Unit	Source
%	Example UCUM Units

73797-3 Signal quality Blood Preductal Pulse oximetry

Term Description

The signal quality indicates the strength or reliability of the measurement at a point in time. Preductal signal quality indicates that the pulse oximetry device is placed in an anatomical location whose blood supply originates from the aorta before the junction of the aorta with the ductus arteriosus (usually the right hand).
Source: Regenstrief LOINC

Fully-Specified Name

Component: Signal quality
Property: Find
Time: Pt
System: Bld.preductal
Scale: Ord
Method: Pulse oximetry

Additional Names

Short Name: Signal quality Bld Preductal PulseOx

Basic Attributes

Class: CARDIO-PULM
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.52
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Calidad de la señal:Tipo:Punto temporal:Edificio preductal:Ordinal:Pulse oximetry
it-IT	Italian (Italy)	Segnale, qualità:Osservazione:Pt:Sangue.preduttale:Ord:Pulsossimetria Synonyms: Cardiopolmonare Gestione ventilazione polmonare Osservazione Punto nel tempo (episodio) Qualità del segnale Sangue Sangue preduttale
ru-RU	Russian (Russian Federation)	Сигнала качество:Находка:ТчкВрм:Кр.до протока:Пор:Пульсоксиметрия Synonyms: Кровь Оксигемометрия;Гемоксиметрия Порядковый Точка во времени;Момент
zh-CN	Chinese (China)	信号质量:发现:时间点:全血.导管前:序数型:脉搏血氧定量法 Synonyms: 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型信号品质;信号质量（本质、特性、特质、品质、性质、特征、特色、特点）全血.导管之前;导管之前的全血;导管之前的血液;导管前全血;导管前血;导管前血液;血.导管前;血液.导管之前;血液.导管前发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论心肺;心肺机能时刻;随机;随意;瞬间肺部测量指标与呼吸机管理脉搏血氧测定法;脉搏血氧定量;脉搏血氧测定;脉搏血氧仪血;血液血氧测定法

73796-5 Infant activity during preductal oxygen saturation measurement

Term Description

Infant activity during preductal oxygen saturation measurement describes how active the infant was during the measurement. If an infant is crying or in a deep sleep, the oxygen saturation measurement may not be accurate; therefore, knowing the infant's state is important for interpreting the saturation result.
Source: Regenstrief LOINC

Fully-Specified Name

Component: Infant activity during preductal oxygen saturation measurement
Property: Find
Time: Pt
System: ^Patient
Scale: Nom
Method

Additional Names

Short Name: Infant active preductal Patient
Display Name: Infant activity during preductal oxygen saturation measurement Nom
Consumer Name Alpha Get Info: Infant activity during preductal oxygen saturation measurement

Basic Attributes

Class: H&P.HX.LAB
Type: Laboratory
First Released: Version 2.44
Last Updated: Version 2.52
Order vs. Observation: Observation

Example Answer List LL2459-7

Answer	Code	Score	Answer ID
Sleeping			LA11864-8
Awake and quiet			LA19830-1
Awake and crying			LA19831-9
Feeding			LA19832-7

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Actividad infantil durante la medición preductal de saturación de oxígeno:Hallazgo:Punto temporal:^paciente:Nom:
es-MX	Spanish (Mexico)	Actividad infantil durante la medición de la saturación de oxígeno preductal:Hallazgo:Punto temporal:^ Paciente:Nominal:
it-IT	Italian (Italy)	Attivittà infantile durante misurazione pre-duttale di saturazione di ossige:Osservazione:Pt:^Paziente:Nom: Synonyms: Anamnesi Anamnesi pertinente a esami di laboratorio Osservazione paziente Punto nel tempo (episodio)
ru-RU	Russian (Russian Federation)	Ребёнка активность в течение до протока кислорода сатурации измерения:Находка:ТчкВрм:^Пациент:Ном: Synonyms: Насыщение кислородом Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Infant activity during preductal oxygen saturation measurement:Bulgu:Zmlı:^Hasta:Snf: Synonyms: Oksijen doymuşluğu
zh-CN	Chinese (China)	在导管前氧饱和度测定过程中的婴儿活动:发现:时间点:^患者:名义型: Synonyms: O2;tO2;总氧;氧气分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化验室化验科医疗服务对象;客户;病人;病患;病号;超系统 - 病人历史纪录与体格检查历史纪录与体格检查.历史记录;历史纪录与体格检查.历史记录类;历史纪录与体格检查.历史记录类别;历史纪录与体格检查.病史;历史纪录与体格检查.病史类;历史纪录与体格检查.病史类别;历史纪录与体格检查.病史记录;历史纪录与体格检查.病史记录类;历史纪录与体格检查.病史记录类别;历史纪录与体格检查小节.历史记录;历史纪录与体格检查小节.历史记录类;历史纪录与体格检查小节.历史记录类别;历史纪录与体格检查小节.病史;历史纪录与体格检查小节.病史类;历史纪录与体格检查小节.病史类别历史纪录与体格检查小节发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论在导管前氧饱和度测定（检测、测量）过程中（期间）的婴儿（婴幼儿、幼儿）活动实验室实验室类别时刻;随机;随意;瞬间检验科活动病史（历史记录、历史、史）与体格检查（身体检查、查体、PX、体格检查结果）.病史（历史记录、历史、史）.实验室（实验室检验项目、检验项目、检验、检验医学、化验项目、化验）病史与体格检查饱和饱和状态饱和程度

59418-4 Oxygen saturation in Blood Postductal by Pulse oximetry

Part Descriptions

LP21258-6 Oxygen saturation
Oxygen saturation (sO2) is defined as the ratio of oxyhemoglobin to "active" hemoglobin (oxyhemoglobin + deoxyhemoglobin). Some say the term oxygen saturation has been erroneously redefined with a denominator of "total" instead of "active" hemoglobin, an ambiguity that can sometimes create confusion when viewing reported values from different instruments (Anesth Analg. 2007 Dec;105(6 Suppl):S5-9.) Oxygen saturation is commonly measured by blood gas analyzers and pulse oximetry. Source: Regenstrief LOINC

Fully-Specified Name

Component: Oxygen saturation
Property: MFr
Time: Pt
System: Bld.postductal
Scale: Qn
Method: Pulse oximetry

Additional Names

Short Name: SaO2 % Bld Postductal PulseOx

Basic Attributes

Class: PULM
Type: Clinical
First Released: Version 2.32
Last Updated: Version 2.73

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Member of these Groups Get Info

LOINC Group	Group Name
LG33051-0	Oxygen saturation\|MFr\|Pt\|Chal:None

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Saturación de oxígeno:Sr.:Punto temporal:Edificio postductal:Cuantitativo:Pulse oximetry
it-IT	Italian (Italy)	Saturazione dell'ossigeno:MFr:Pt:Sangue.postduttale:Qn:Pulsossimetria Synonyms: Frazione di massa Gestione ventilazione polmonare Punto nel tempo (episodio) Sangue Sangue postduttale
pt-BR	Portuguese (Brazil)	Saturação de Oxigênio::Pt:Sangue.postductal:Qn:Oximetria de pulso
ru-RU	Russian (Russian Federation)	Кислородом сатурация:МассДол:ТчкВрм:Кр.после протока:Колич:Пульсоксиметрия Synonyms: Количественный Кровь Массовая доля Насыщение кислородом Оксигемометрия;Гемоксиметрия Точка во времени;Момент
zh-CN	Chinese (China)	氧饱和度:质量分数:时间点:全血.导管后:定量型:脉搏血氧定量法 Synonyms: MFr O2;tO2;总氧;氧气全血.导管之后;导管之后的全血;导管之后的血液;导管后全血;导管后血;导管后血液;血.导管后;血液.导管之后;血液.导管后可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间肺部测量指标与呼吸机管理脉搏血氧测定法;脉搏血氧定量;脉搏血氧测定;脉搏血氧仪血;血液血氧测定法饱和饱和状态饱和程度

Example Units

Unit	Source
%	Example UCUM Units

Related Codes

Code System	Code	Code Text	Code Version
urn:iso:std:iso:11073:10101	160300	MDC_PULS_OXIM_SAT_O2_ART_POSTDUCTAL

73795-7 Heart rate Blood Postductal Pulse oximetry

Term Description

Infant's heart rate as measured by the pulse oximeter during postductal oxygen saturation measurement. Postductal measurement indicates that the measurements are taken using a pulse oximetry device placed in an anatomical location whose blood supply originates from the aorta after the junction of the aorta with the ductus arteriosus (usually either the right or left foot).
Source: Regenstrief LOINC

Fully-Specified Name

Component: Heart rate
Property: NRat
Time: Pt
System: Bld.postductal
Scale: Qn
Method: Pulse oximetry

Additional Names

Short Name: Heart rate Bld Postductal PulseOx
Consumer Name Alpha Get Info: Heart Rate, Postductal

Basic Attributes

Class: CARDIO-PULM
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.52
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Member of these Groups Get Info

LOINC Group	Group Name
LG33055-1	Heart rate\|NRat\|Pt\|Chal:None

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Ritmo cardiaco:NRat:Punto temporal:Edificio postductal:Cuantitativo:Pulse oximetry
it-IT	Italian (Italy)	Frequenza cardiaca:NRat:Pt:Sangue.postduttale:Qn:Pulsossimetria Synonyms: Cardiopolmonare Gestione ventilazione polmonare Indice numerico Punto nel tempo (episodio) Sangue Sangue postduttale
ru-RU	Russian (Russian Federation)	Частота сердечных сокращений:КолСкор:ТчкВрм:Кр.после протока:Колич:Пульсоксиметрия Synonyms: Количественный Количество скорость Кровь Оксигемометрия;Гемоксиметрия Точка во времени;Момент
zh-CN	Chinese (China)	心率:计数型速率:时间点:全血.导管后:定量型:脉搏血氧定量法 Synonyms: 全血.导管之后;导管之后的全血;导管之后的血液;导管后全血;导管后血;导管后血液;血.导管后;血液.导管之后;血液.导管后单位时间内的数量或计数;数量/时间;数量型速率;数量型速率或计数型速率;数量型速率或计数型速率(单位时间);数量或计数型速率;计数/时间;计数型速率(单位时间);数量或计数型速率(单位时间) 可用数量表示的;定量性;数值型;数量型;连续数值型标尺心搏率;心跳速率心肺;心肺机能时刻;随机;随意;瞬间肺部测量指标与呼吸机管理脉搏血氧测定法;脉搏血氧定量;脉搏血氧测定;脉搏血氧仪血;血液血氧测定法速度

Example Units

Unit	Source
/min	Example UCUM Units

73794-0 Perfusion index Blood Postductal Pulse oximetry

Term Description

The perfusion index measures the strength of the pulse at a sensor site and is the ratio of the pulsatile and nonpulsatile components of the pulse oximetry signal. Postductal measurement indicates that the measurements are taken using a pulse oximetry device placed in an anatomical location whose blood supply originates from the aorta after the junction of the aorta with the ductus arteriorsus (usually either the right or left foot).
Source: Regenstrief LOINC

Fully-Specified Name

Component: Perfusion index
Property: Ratio
Time: Pt
System: Bld.postductal
Scale: Qn
Method: Pulse oximetry

Additional Names

Short Name: Perfusion index Bld Postductal PulseOx

Basic Attributes

Class: CARDIO-PULM
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.52
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Índice de perfusión:Proporción:Punto temporal:Edificio postductal:Cuantitativo:Pulse oximetry
it-IT	Italian (Italy)	Espansione, indice:Rapporto:Pt:Sangue.postduttale:Qn:Pulsossimetria Synonyms: Cardiopolmonare Gestione ventilazione polmonare Indice di espansione Punto nel tempo (episodio) Sangue Sangue postduttale
ru-RU	Russian (Russian Federation)	Перфузионный индекс:Отношение:ТчкВрм:Кр.после протока:Колич:Пульсоксиметрия Synonyms: Количественный Коэффициент;Соотношение;Пропорция Кровь Оксигемометрия;Гемоксиметрия Точка во времени;Момент
zh-CN	Chinese (China)	灌注指数:比率:时间点:全血.导管后:定量型:脉搏血氧定量法 Synonyms: PF 全血.导管之后;导管之后的全血;导管之后的血液;导管后全血;导管后血;导管后血液;血.导管后;血液.导管之后;血液.导管后可用数量表示的;定量性;数值型;数量型;连续数值型标尺心肺;心肺机能时刻;随机;随意;瞬间来自于不同体系的两个观察指标之比;比;比值灌注法灌流（Perfusion，PF）肺部测量指标与呼吸机管理脉搏血氧测定法;脉搏血氧定量;脉搏血氧测定;脉搏血氧仪血;血液血氧测定法血流灌注;血流量血流灌注指数;灌注（血流灌注、血流量）指数

Example Units

Unit	Source
%	Example UCUM Units

73793-2 Signal quality Blood Postductal Pulse oximetry

Term Description

The signal quality indicates the strength or reliability of the measurement at a point in time. Postductal signal quality indicates that the pulse oximetry device is placed in an anatomical location whose blood supply originates from the aorta after the junction of the aorta with the ductus arteriosus (usually the right hand).
Source: Regenstrief LOINC

Fully-Specified Name

Component: Signal quality
Property: Find
Time: Pt
System: Bld.postductal
Scale: Ord
Method: Pulse oximetry

Additional Names

Short Name: Signal quality Bld Postductal PulseOx

Basic Attributes

Class: CARDIO-PULM
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.52
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Calidad de la señal:Tipo:Punto temporal:Edificio postductal:Ordinal:Pulse oximetry
it-IT	Italian (Italy)	Segnale, qualità:Osservazione:Pt:Sangue.postduttale:Ord:Pulsossimetria Synonyms: Cardiopolmonare Gestione ventilazione polmonare Osservazione Punto nel tempo (episodio) Qualità del segnale Sangue Sangue postduttale
ru-RU	Russian (Russian Federation)	Сигнала качество:Находка:ТчкВрм:Кр.после протока:Пор:Пульсоксиметрия Synonyms: Кровь Оксигемометрия;Гемоксиметрия Порядковый Точка во времени;Момент
zh-CN	Chinese (China)	信号质量:发现:时间点:全血.导管后:序数型:脉搏血氧定量法 Synonyms: 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型信号品质;信号质量（本质、特性、特质、品质、性质、特征、特色、特点）全血.导管之后;导管之后的全血;导管之后的血液;导管后全血;导管后血;导管后血液;血.导管后;血液.导管之后;血液.导管后发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论心肺;心肺机能时刻;随机;随意;瞬间肺部测量指标与呼吸机管理脉搏血氧测定法;脉搏血氧定量;脉搏血氧测定;脉搏血氧仪血;血液血氧测定法

73792-4 Infant activity during postductal oxygen saturation measurement

Term Description

Infant activity during postductal oxygen saturation measurement describes how active the infant was during the measurement. If an infant is crying or in a deep sleep, the oxygen saturation measurement may not be accurate; therefore, knowing the infant's state is important for interpreting the oxygen saturation result.
Source: Regenstrief LOINC

Fully-Specified Name

Component: Infant activity during postductal oxygen saturation measurement
Property: Find
Time: Pt
System: ^Patient
Scale: Nom
Method

Additional Names

Short Name: Infant active postductal Patient
Display Name: Infant activity during postductal oxygen saturation measurement Nom
Consumer Name Alpha Get Info: Infant activity during postductal oxygen saturation measurement

Basic Attributes

Class: H&P.HX.LAB
Type: Laboratory
First Released: Version 2.44
Last Updated: Version 2.52
Order vs. Observation: Observation

Example Answer List LL2459-7

Answer	Code	Score	Answer ID
Sleeping			LA11864-8
Awake and quiet			LA19830-1
Awake and crying			LA19831-9
Feeding			LA19832-7

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Actividad infantil durante la medición postductal de saturación de oxígeno:Hallazgo:Punto temporal:^paciente:Nom:
es-MX	Spanish (Mexico)	Actividad infantil durante la medición de la saturación de oxígeno posductal:Hallazgo:Punto temporal:^ Paciente:Nominal:
it-IT	Italian (Italy)	Attivittà infantile durante misurazione post-duttale di saturazione di ossigeno:Osservazione:Pt:^Paziente:Nom: Synonyms: Anamnesi Anamnesi pertinente a esami di laboratorio Osservazione paziente Punto nel tempo (episodio)
ru-RU	Russian (Russian Federation)	Ребёнка активность в течение после протока кислорода сатурации измерения:Находка:ТчкВрм:^Пациент:Ном: Synonyms: Насыщение кислородом Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Infant aktivitei, postduktal oksijen doygunluğu ölçümü sırasında:Bulgu:Zmlı:^Hasta:Snf: Synonyms: Oksijen doymuşluğu
zh-CN	Chinese (China)	在导管后氧饱和度测定过程中的婴儿活动:发现:时间点:^患者:名义型: Synonyms: O2;tO2;总氧;氧气分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化验室化验科医疗服务对象;客户;病人;病患;病号;超系统 - 病人历史纪录与体格检查历史纪录与体格检查.历史记录;历史纪录与体格检查.历史记录类;历史纪录与体格检查.历史记录类别;历史纪录与体格检查.病史;历史纪录与体格检查.病史类;历史纪录与体格检查.病史类别;历史纪录与体格检查.病史记录;历史纪录与体格检查.病史记录类;历史纪录与体格检查.病史记录类别;历史纪录与体格检查小节.历史记录;历史纪录与体格检查小节.历史记录类;历史纪录与体格检查小节.历史记录类别;历史纪录与体格检查小节.病史;历史纪录与体格检查小节.病史类;历史纪录与体格检查小节.病史类别历史纪录与体格检查小节发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论在导管后氧饱和度测定（检测、测量）过程中（期间）的婴儿（婴幼儿、幼儿）活动实验室实验室类别时刻;随机;随意;瞬间检验科活动病史（历史记录、历史、史）与体格检查（身体检查、查体、PX、体格检查结果）.病史（历史记录、历史、史）.实验室（实验室检验项目、检验项目、检验、检验医学、化验项目、化验）病史与体格检查饱和饱和状态饱和程度

57794-0 Newborn screening test results panel - Dried blood spot

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Newborn screening test results panel
Property: -
Time: Pt
System: Bld.dot
Scale: -
Method

Additional Names

Short Name: NBS test results pnl DBS
Display Name: NBS test results panel (DBS)
Consumer Name Alpha Get Info: NBS test results panel, Dried blood spot

Basic Attributes

Class: PANEL.CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.67
Order vs. Observation: Order
Panel Type: Organizer

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Panel de resultados de tests de cribado del recién nacido:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX	Spanish (Mexico)	Panel de resultados de la prueba de detección del recién nacido:-:Punto temporal:DBS:-:
fr-FR	French (France)	Dépistage néonatal - Résultats des tests panel:-:Ponctuel:Sang buvard:-:
it-IT	Italian (Italy)	Screening neonatale, panel risultati test:-:Pt:Sangue.su carta da filtro:-: Synonyms: Chimica Panel risultati test di screening neonatale Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL	Dutch (Netherlands)	pasgeborene screening testresultaten panel:-:moment:gedroogde bloedspot:-:
pt-BR	Portuguese (Brazil)	Triagem neonatal teste do painel Resultados:#N/A:Pt:SgPapel:-: Synonyms: ; NBS test results pnl; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; SCN; Asymptomatic; Asympt; Pnl; Pan; Panl; New born; PANEL.CHEMISTRY; PANEL.CHEMISTRY; Chemistry
ru-RU	Russian (Russian Federation)	Новорождённый скрининг тест результаты панель:-:ТчкВрм:Кр.Сух.капл:-: Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN	Chinese (China)	新生儿筛查试验结果组套:-:时间点:全血.斑点:-: Synonyms: Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类新生儿（NB）筛查（筛选、过筛、筛检）试验结果组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;新生儿筛查试验结果组套;新生儿筛查试验结果组合;新生儿筛查检验结果医嘱组无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验医嘱组合类检验项目医嘱组合类检验项目组合类筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验组组合组合医嘱组合类组套血;血液

53261-4 Amino acid newborn screen panel

Term Description

Newborn screening dried blood spot analysis by tandem mass spectrometry (MS/MS) requires pre-processing the specimen with one of two alternative reagent methods referred to as derivatized and non-derivatized (or underivatized) methods. The methods are similar and nearly all analytes and ratios are identical with the limited number of exceptions noted in the description of the LOINC codes. Some labs choose to use the non-derivatized method because it may be faster or less expensive for their operations. There are no analytes which would be interpreted differently based on the method used to process the specimen so there is no need for different LOINC codes for the same compounds based on the reagents. In a few cases, a different LOINC code is used for the derivatized or non-derivatized tandem mass spectrometry (MS/MS) method because based on the reagents used in processing, different analytes are measured or different sets of analytes become isobaric, which means that they cannot be distinguished on the MS/MS because they have the same molecular weight after reagent processing.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Amino acid newborn screen panel
Property: SCnc
Time: Pt
System: Bld.dot
Scale: -
Method

Additional Names

Short Name: AA NB scn Pnl DBS-sCnc
Display Name: Amino acid NBS panel (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Amino Acid NBS Panel, Dried blood spot

Basic Attributes

Class: PANEL.CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.77
Order vs. Observation: Order
Common Test Rank Get Info: 16129
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Panel de cribado neonatal de aminoácidos:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):-:
es-MX	Spanish (Mexico)	Panel de pantalla de aminoácidos para recién nacidos:Concentración de sustancias:Punto temporal:DBS:-:
fr-FR	French (France)	Acides aminés dépistage néonatal panel:Moles/Volume:Ponctuel:Sang buvard:-:
fr-BE	French (Belgium)	Profil screening nouveau-né pour amino-acides:Concentration de substance:Temps ponctuel:Sang sur papier filtre:-:
it-IT	Italian (Italy)	Aminoacido, panel screening neonatale:SCnc:Pt:Sangue.su carta da filtro:-: Synonyms: Chimica Concentrazione di Sostanza Panel screening neonatale aminoacidi Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL	Dutch (Netherlands)	aminozuur pasgeborene screeningpanel:mol/volume:moment:gedroogde bloedspot:-:
pt-BR	Portuguese (Brazil)	Triagem de Aminoácido neonatal painel:SCnc:Pt:SgPapel:-: Synonyms: ; AA NB scn Pnl; NB scn AA; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Scr; Scn; Scrn; Pan; Panl; New born; Acd; Acids; PANEL.CHEMISTRY; PANEL.CHEMISTRY; Chemistry
ru-RU	Russian (Russian Federation)	Амино кислоты новорождённый скрин панель:МолКонц:ТчкВрм:Кр.Сух.капл:-: Synonyms: Аминокислоты новорождённый скрин панель Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
zh-CN	Chinese (China)	氨基酸新生儿筛查组套:物质的量浓度:时间点:全血.斑点:-: Synonyms: 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类时刻;随机;随意;瞬间检验医嘱组合类检验项目医嘱组合类检验项目组合类氨基酸新生儿筛查组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;氨基酸新生儿筛查组套;氨基酸新生儿筛查组合筛查筛查试验筛选试验组组合组合医嘱组合类组套血;血液过筛过筛试验酸

46733-2 Amino acidemias newborn screen interpretation

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Amino acidemias
Property: Imp
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: Amino acidemias DBS-Imp
Display Name: Amino acidemias (DBS) [Interp]
Consumer Name Alpha Get Info: Amino acidemias, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.19
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation
Common Test Rank Get Info: 1377

Preferred Answer List LL840-0

Answer	Code	Score	Answer ID
In range			LA18592-8
Borderline			LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)			LA11884-6
Out of range			LA18593-6
Out of range requiring further dried blood spot testing for at least one condition			LA12430-7
Out of range requiring immediate referral			LA25817-0
Out of range requiring immediate second-tier testing for at least one condition			LA12431-5
Out of range requiring deferred follow-up for at least one condition			LA18594-4
One or more tests pending			LA16204-2
Specimen unsatisfactory for at least one condition			LA16205-9

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Aminoacidemias:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Amino acidemias:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Aminoacidémie:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE	French (Belgium)	Aminoacidémies:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-CA	French (Canada)	Aminoacidémies:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Aminoacidemie:Imp:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	aminozuuracidemie:interpretatie:moment:gedroogde bloedspot:nominaal:
pt-BR	Portuguese (Brazil)	Aminoacidemias:Imp:Pt:SgPapel:Nom: Synonyms: AA; Urea Cyle; Interpretation; Interp; Impression; Impressions; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; Chemistry
ru-RU	Russian (Russian Federation)	Аминоацидемия:Впчт:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Amino asidemiler:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	氨基酸血症:印象:时间点:全血.斑点:名义型: Synonyms: AA;尿素循环;尿素循环（Urea Cyle）;氨基酸血症（Amino Acidemias，AA）;氨基酸血症类全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释时刻;随机;随意;瞬间血;血液

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

57710-6 Amino acidemias newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Amino acidemias newborn screening comment-discussion
Property: Txt
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: Amino acidemias NBS comment
Display Name: Amino acidemias newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info: Amino acidemias newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 16991

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Aminoacidemias screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX	Spanish (Mexico)	Amino acidemias revisión de recién nacidos comentario-discusión:Texto:Punto temporal:DBS:Narrativo:
fr-FR	French (France)	Aminoacidémie dépistage néonatal (commentaire/discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE	French (Belgium)	Aminoacidémies Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT	Italian (Italy)	Aminoacidemie , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica Commento/discussione di screening neonatale per aminoacidemie Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL	Dutch (Netherlands)	aminozuuracidemie screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
pt-BR	Portuguese (Brazil)	Aminoacidemias na triagem neonatal comentários-discussão:#N/A:Pt:SgPapel:Nar: Synonyms: Remarks; AA NBS comment/discussion; Urea Cyle; Text; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Narrative; Report; SCN; Asymptomatic; Asympt; New born; Com; Comm; Commt; Comments; cmnt; cmmt; Chemistry
ru-RU	Russian (Russian Federation)	Аминоацидемия новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR	Turkish (Turkey)	Amino asidemiler yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN	Chinese (China)	氨基酸血症新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型: Synonyms: AA;尿素循环;尿素循环（Urea Cyle）;氨基酸血症（Amino Acidemias，AA）;氨基酸血症类 Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型备注备注;评论;注解;说明;评语意见文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验氨基酸血症新生儿筛查注释/讨论注解短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验血;血液解说解释评定评注评论评语说明

57793-2 Amino acidemia disorder suspected [Identifier] in DBS

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Amino acidemia disorder suspected
Property: Prid
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: Amino acidemia disorder suspected DBS
Display Name: Amino acidemia disorder suspected Nom (DBS)
Consumer Name Alpha Get Info: Amino acidemia disorder suspected, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation
Common Test Rank Get Info: 2318

Preferred Answer List LL837-6

Answer	Code	Score	Answer ID
None Copyright http://snomed.info/sct ID:260413007 None (qualifier value)			LA137-2
CIT-I or CIT-II or ASA			LA12569-2
HCY or MET or CBL C			LA12570-0
PKU or BIPT-BS or BIOPT-REG or H-PHE			LA12571-8
TYR-1 or TYR-II or TYR-III			LA12572-6
Maple syrup urine disease Copyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder)			LA21168-2
Argininemia			LA21161-7
Argininosuccinic aciduria			LA21162-5
Carbamoyl-phosphate synthase deficiency Copyright http://snomed.info/sct ID:62522004 Congenital hyperammonemia, type I (disorder)			LA12484-4
Citrullinemia, type I Copyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder)			LA12482-8
Citrullinemia, type II Copyright http://snomed.info/sct ID:716863007 Citrullinemia type II (disorder)			LA12483-6
Dihydrolipoamide dehydrogenase deficiency Copyright http://snomed.info/sct ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder)			LA12490-1
Biopterin defect in cofactor biosynthesis Copyright http://snomed.info/sct ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder)			LA12472-9
Biopterin defect in cofactor regeneration Copyright http://snomed.info/sct ID:58256000 Dihydropteridine reductase deficiency (disorder)			LA12473-7
Girate atrophy of the retina Copyright http://snomed.info/sct ID:314467007 Gyrate atrophy (disorder)			LA12502-3
Hypermethioninemia Copyright http://snomed.info/sct ID:43123004 Hypermethioninemia (disorder)			LA12512-2
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Copyright http://snomed.info/sct ID:30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder)			LA12497-6
Hyperphenylalaninemia (variant, benign) Copyright http://snomed.info/sct ID:68528007 Hyperphenylalaninemia (disorder)			LA12500-7
Hyperprolinemia type I Copyright http://snomed.info/sct ID:61071003 Proline dehydrogenase deficiency (disorder)			LA12521-3
Hyperprolinemia type II Copyright http://snomed.info/sct ID:717181004 Hyperprolinemia type 2 (disorder)			LA12522-1
Cobalamin E disease Copyright http://snomed.info/sct ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder)			LA12480-2
Guanidinoacetate N-methyltransferase deficiency Copyright http://snomed.info/sct ID:124239003 Deficiency of guanidinoacetate methyltransferase (disorder)			LA30113-7
L-arginine:glycine amidinotransferase deficiency Copyright http://snomed.info/sct ID:702440000 Cerebral creatine deficiency syndrome 3 (disorder)			LA30114-5
Methylene tetrahydrofolate reductase deficiency Copyright http://snomed.info/sct ID:41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder)			LA12514-8
Nonketotic hyperglycinemia (glycine encephalopathy) Copyright http://snomed.info/sct ID:237939006 Non-ketotic hyperglycinemia (disorder)			LA12516-3
Ornithine transcarbamylase deficiency Copyright http://snomed.info/sct ID:80908008 Ornithine carbamoyltransferase deficiency (disorder)			LA12518-9
Classic phenylketonuria Copyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder)			LA12520-5
Pyroglutamic acidemia Copyright http://snomed.info/sct ID:39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder)			LA12469-5
Pyruvate carboxylase deficiency Copyright http://snomed.info/sct ID:87694001 Pyruvate carboxylase deficiency (disorder)			LA12519-7
Tyrosinemia, type I Copyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder)			LA12528-8
Tyrosinemia, type II Copyright http://snomed.info/sct ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder)			LA12529-6
Tyrosinemia, type III Copyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder)			LA12530-4
Valinemia Copyright http://snomed.info/sct ID:47719001 Hypervalinemia (disorder)			LA12503-1
X-linked creatine transporter (CRTR) deficiency Copyright http://snomed.info/sct ID:698290008 X-linked creatine deficiency (disorder)			LA30492-5

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Sospecha de desorden de aminoacidemia:Presencia o identidad:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Sospecha de trastorno por aminoacidemia:Presencia o identidad:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Aminoacidémie désordre suspecté:Identification:Ponctuel:Sang buvard:Résultat nominal:
fr-BE	French (Belgium)	Maladie des Amino-acides suspectée:Présence ou identité:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Aminoacidemia, sospetto disturbo:Prid:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Presenza o Identità Punto nel tempo (episodio) Sangue Sospetto disturbo di aminoacidemia Spot sangue secco
nl-NL	Dutch (Netherlands)	aminozuuracidemiestoornis verdenking:identificator:moment:gedroogde bloedspot:nominaal:
pt-BR	Portuguese (Brazil)	Suspeita de desordem de amino acidemia:Ident:Pt:SgPapel:Nom: Synonyms: Identity or presence; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; Chemistry
ru-RU	Russian (Russian Federation)	Амино ацидемия расстройство заподозрено:ПрИд:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Заподозрено аминоацидурическое расстройство Кровь Кровь сухая капля Номинальный;Именной Присутствие или Идентификация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Amino asidemi bozukluğu şüphelenilen:MevcKimlik:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	疑似氨基酸血症:存在与否或特征标识:时间点:全血.斑点:名义型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类存在;存在与否;特征标识;身份;身份标识时刻;随机;随意;瞬间血;血液

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

46746-4 Phenylketonuria and variants/Biopterin defects newborn screen interpretation

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Phenylketonuria and variants &or biopterin defects
Property: Imp
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: PKU+Var/BIOPT Defects DBS-Imp
Display Name: Phenylketonuria and variants/Biopterin defects (DBS) [Interp]
Consumer Name Alpha Get Info: Phenylketonuria and Variants/Biopterin defects, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.19
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Both
Common Test Rank Get Info: 19766

Preferred Answer List LL840-0

Answer	Code	Score	Answer ID
In range			LA18592-8
Borderline			LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)			LA11884-6
Out of range			LA18593-6
Out of range requiring further dried blood spot testing for at least one condition			LA12430-7
Out of range requiring immediate referral			LA25817-0
Out of range requiring immediate second-tier testing for at least one condition			LA12431-5
Out of range requiring deferred follow-up for at least one condition			LA18594-4
One or more tests pending			LA16204-2
Specimen unsatisfactory for at least one condition			LA16205-9

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Fenilcetonuria y variantes/defectos de biopterina:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Fenilcetonuria y variantes o defectos de biopterina:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Phénylcétonurie et variantes et/ou bioptérine carence:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE	French (Belgium)	Défauts phénylcétonurie & variantes/Bioptérine Defects:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-CA	French (Canada)	Défauts phénylcétonurie & variantes/Bioptérine Defects:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Fenilchetonuria e varianti &o difetti biopterina:Imp:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Fenilchetonuria e varianti/Difetti biopterina Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	fenylketonurie en varianten en/of biopterinedefecten:interpretatie:moment:gedroogde bloedspot:nominaal:
pt-BR	Portuguese (Brazil)	Fenilcetonúria e variantes e/ou biopterina defeitos:Imp:Pt:SgPapel:Nom: Synonyms: ; PKU+Var/BIOPT Defects; BIOPT; Interpretation; Interp; Impression; Impressions; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; PKU; Chemistry
ru-RU	Russian (Russian Federation)	Фенилкетонурия и варианты &или биоптерин дефекты:Впчт:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Fenilketonüri ve varyantları veveya biyopterin kusurları:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	苯丙酮尿症和变种和或生物蝶呤缺陷:印象:时间点:全血.斑点:名义型: Synonyms: BIOPT;生物喋呤 PKU 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释时刻;随机;随意;瞬间苯丙酮尿症（Phenylketonuria，PKU）苯丙酮尿症和变种和或生物蝶呤（生物喋呤）缺陷;苯丙酮尿症和变种/生物蝶呤缺陷;PKU+Variants/BIOPT Defects;PKU+变种/BIOPT 缺陷;苯丙酮尿症+变种/生物蝶呤缺陷;苯丙酮酸尿症+变种/生物蝶呤缺陷;苯丙酮酸尿症和变种/生物蝶呤缺陷苯丙酮酸尿症血;血液

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

58231-2 Phenylketonuria and variants/Biopterin defects newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Phenylketonuria and variants &or biopterin defects newborn screening comment-discussion
Property: Txt
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: PKU+Var/BIOPT Defects NBS comment
Display Name: Phenylketonuria and variants/Biopterin defects newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info: Phenylketonuria and Variants/Biopterin defects newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.30
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 19189

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Fenilcetonuria y variantes/defectos de biopterina screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo: Synonyms: Comentario/discusión del cribado de la fenilcetonuria y variantes/defectos de biopterina en el recien nacido
es-MX	Spanish (Mexico)	Fenilcetonuria y variantes o defectos de la biopterina cribado neonatal comentario-discusión:Texto:Punto temporal:DBS:Narrativo:
fr-FR	French (France)	Phénylcétonurie et variantes et/ou bioptérine carence dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE	French (Belgium)	Défauts phénylcétonurie & variantes/Bioptérine Defects Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT	Italian (Italy)	Fenilchetonuria e varianti &o difetti biopterina , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica Commento/discussione di screening neonatale per fenilchetonuria e varianti/difetti biopterina Fenilchetonuria e varianti/Difetti biopterina Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL	Dutch (Netherlands)	fenylketonurie en varianten en/of biopterinedefecten screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
pl-PL	Polish (Poland)	Fenyloketonuria i jej warianty np, defekty syntezy biopteryny komentarz-dyskusja nad badaniami przesiewowymi noworodka:tekst:punkt w czasie:sucha kropla krwi:opisowy:
pt-BR	Portuguese (Brazil)	Fenilcetonúria e variantes e/ou defeitos da biopterina triagem neonatal comentários-discussão:#N/A:Pt:SgPapel:Nar: Synonyms: ; PKU+Var/BIOPT Defects NBS comment/disc; PKU+Var/BIOPT Defects; Remarks; BIOPT; Text; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Narrative; Report; SCN; Asymptomatic; Asympt; PKU; New born; Com; Comm; Commt; Comments; cmnt; cmmt; Chemistry
ru-RU	Russian (Russian Federation)	Фенилкетонурия и варианты &или биоптерин дефекты новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR	Turkish (Turkey)	Fenilketonüri ve varyantları veveya biyopterin kusurları yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN	Chinese (China)	苯丙酮尿症和变种和或生物蝶呤缺陷新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型: Synonyms: Asympt BIOPT;生物喋呤 PKU SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型备注备注;评论;注解;说明;评语意见文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验注解短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验苯丙酮尿症（Phenylketonuria，PKU）苯丙酮尿症及其变种和或生物喋呤缺陷新生儿筛查注释/讨论苯丙酮尿症和变种和或生物蝶呤（生物喋呤）缺陷;苯丙酮尿症和变种/生物蝶呤缺陷;PKU+Variants/BIOPT Defects;PKU+变种/BIOPT 缺陷;苯丙酮尿症+变种/生物蝶呤缺陷;苯丙酮酸尿症+变种/生物蝶呤缺陷;苯丙酮酸尿症和变种/生物蝶呤缺陷苯丙酮酸尿症血;血液解说解释评定评注评论评语说明

46743-1 Maple syrup urine disease newborn screen interpretation

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Maple syrup urine disease
Property: Imp
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: MSUD DBS-Imp
Display Name: Maple syrup urine disease (DBS) [Interp]
Consumer Name Alpha Get Info: Maple syrup urine disease, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.19
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation
Common Test Rank Get Info: 14378

Preferred Answer List LL840-0

Answer	Code	Score	Answer ID
In range			LA18592-8
Borderline			LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)			LA11884-6
Out of range			LA18593-6
Out of range requiring further dried blood spot testing for at least one condition			LA12430-7
Out of range requiring immediate referral			LA25817-0
Out of range requiring immediate second-tier testing for at least one condition			LA12431-5
Out of range requiring deferred follow-up for at least one condition			LA18594-4
One or more tests pending			LA16204-2
Specimen unsatisfactory for at least one condition			LA16205-9

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Enfermedad orina jarabe de arce:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Enfermedad de la orina con jarabe de arce:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Leucinose:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE	French (Belgium)	Leucinose:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-CA	French (Canada)	Leucinose:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Sciroppo d'acero, malattia urine:Imp:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Impressione/interpretazione di studio Malattia delle urine a sciroppo d''acero Punto nel tempo (episodio) Sangue Sciroppo d''acero Spot sangue secco
nl-NL	Dutch (Netherlands)	Maple syrup urine disease:interpretatie:moment:gedroogde bloedspot:nominaal: Synonyms: ahornsiroop
pt-BR	Portuguese (Brazil)	Maple xarope doença urinária:Imp:Pt:SgPapel:Nom: Synonyms: ; MSUD; f377; Acer; Interpretation; Interp; Impression; Impressions; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; Dis; Chemistry
ru-RU	Russian (Russian Federation)	Кленовый сироп моча болезнь:Впчт:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Болезнь кленового сиропа;Болезнь мочи с запахом кленового сиропа;Лейциноз Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Akçaağaç şurupu idrar hastalığı:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	槭糖浆尿病:印象:时间点:全血.斑点:名义型: Synonyms: MSUD;枫糖尿病;枫糖浆尿病;槭糖尿病;槭糖浆尿病（Maple Syrup Urine Disease，MSUD）全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释时刻;随机;随意;瞬间枫;枫树;槭属;槭树;槭树属枫蜜;槭树汁;槭树糖浆;糖枫汁;糖槭汁液疾病症血;血液

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

58230-4 Maple syrup urine disease newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Maple syrup urine disease newborn screening comment-discussion
Property: Txt
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: MSUD NBS comment
Display Name: Maple syrup urine disease newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info: Maple syrup urine disease newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.30
Last Updated: Version 2.42
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Enfermedad orina jarabe de arce screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo: Synonyms: Comentario/discusión del cribado de la enfermedad del jarabe de arce en el recien nacido
es-MX	Spanish (Mexico)	Jarabe de arce, enfermedad de la orina, evaluación del recién nacido, comentario-discusión:Texto:Punto temporal:DBS:Narrativo:
fr-FR	French (France)	Leucinose dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE	French (Belgium)	Leucinose Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT	Italian (Italy)	Sciroppo d'acero, malattia urine , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica Commento/discussione di screening neonatale per malattia delle urine a sciroppo d''acero Malattia delle urine a sciroppo d''acero Punto nel tempo (episodio) Sangue Sciroppo d''acero Spot sangue secco Testo
nl-NL	Dutch (Netherlands)	Maple syrup urine disease screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel: Synonyms: ahornsiroop
pt-BR	Portuguese (Brazil)	Doença do xarope de bordo na urina triagem neonatal comentários-discussão:#N/A:Pt:SgPapel:Nar: Synonyms: ; MSUD; f377; Acer; Remarks; Text; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Narrative; Report; SCN; Asymptomatic; Asympt; New born; Dis; Com; Comm; Commt; Comments; cmnt; cmmt; Chemistry
ru-RU	Russian (Russian Federation)	Кленовый сироп моча болезнь новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис: Synonyms: Болезнь кленового сиропа;Болезнь мочи с запахом кленового сиропа;Лейциноз Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR	Turkish (Turkey)	Akçaağaç şurupu idrar hastalığı yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN	Chinese (China)	槭糖浆尿病新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型: Synonyms: Asympt MSUD;枫糖尿病;枫糖浆尿病;槭糖尿病;槭糖浆尿病（Maple Syrup Urine Disease，MSUD） SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型备注备注;评论;注解;说明;评语意见文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验枫;枫树;槭属;槭树;槭树属枫蜜;槭树汁;槭树糖浆;糖枫汁;糖槭汁液槭糖尿病新生儿筛查注释/讨论注解疾病症短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验血;血液解说解释评定评注评论评语说明

47539-2 3-Methylhistidine [Moles/volume] in DBS

Term Description

The tentative opinion of the HTSP review (5/13/08) committee was that this marker has no clinical utility based on today's knowledge.
Source: Regenstrief LOINC

Part Descriptions

LP15303-8 3-Methylhistidine
3-Methylhistidine is an amino acid occurring in myofibrillar proteins and important in the synthesis of carnosine. Increased levels of 3-Methylhistidine indicative of active catabolism of muscle protein. Information from Dorland's Medical Dictionary, www.mercksource.com, accessed 2006 11 30. Source: Regenstrief Institute

LP15303-8 3-Methylhistidine
3-Methylhistidine is a product of peptide bond synthesis and methylation of actin and myosin. The measurement of 3-Methylhistidine provides an index of the rate of muscle protein breakdown. Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.) Source: Human Metabolome Database, Human Metabolome Database

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: 3-Methylhistidine
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 3Me-histidine DBS-sCnc
Display Name: 3-Methylhistidine (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: 3-Methylhistidine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.21
Last Updated: Version 2.70
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	3-Methylhistidin:Stoffmengenkonzentration:Zeitpunkt:Blut.Tropfen:Quantitativ:
es-ES	Spanish (Spain)	3-Metilhistidina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	3-metilhistidina:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	3-metüülhistidiin:SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	3-méthylhistidine:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	3-méthylhistidine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	3-méthylhistidine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	3-Metilistidina:SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	3-methylhistidine:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	3-Metilhistidina:SCnc:Pt:SgPapel:Qn: Synonyms: ; 3Me-histidine; 3-MH; Ch3hist; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; methyl-histidine; III; Chemistry
ru-RU	Russian (Russian Federation)	3-Метилгистидин:МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	3-Metilhistidin:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	3-甲基组氨酸:物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 3Me-His;3Me-hist;3-MH Ⅲ III 三克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53232-5 5-Oxoproline+Pipecolate [Moles/volume] in DBS

Part Descriptions

LP70201-6 5-Oxoproline+Pipecolate
5-Oxoproline+Pipecolate is a primary marker for Pyroglutamic acidemia. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: 5-Oxoproline+Pipecolate
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 5-Oxoproline+Pipecolate DBS-sCnc
Display Name: 5-Oxoproline+Pipecolate (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: 5-Oxoproline+Pipecolate, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 16828

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	5-Oxoprolina+Pipecolato:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	5-Oxoprolina + Pipecolate:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	5-oksoproliin + pipekolaat:SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Pyroglutamate+pipécolate:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	5-oxoproline+Pipécolate:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	5-oxoproline+Pipécolate:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	5-Oxoprolina+Pipecolato:SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	5-oxoproline + pipecolaat:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	5-Oxoprolina+Pipecolate:SCnc:Pt:SgPapel:Qn: Synonyms: Pipa; Pipecolic acid; 5Oxoproline; Oxopro; Pyroglutamate; Pyroglutamic acid; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	5-Оксопролин+Пипеколат:МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	5-Okzoprolin+Pipekolat:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	5-羟脯氨酸+哌啶酸:物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 5-羟脯氨酸+哌可酸克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 六氢吡啶羧酸;刚性环状非蛋白质氨基酸;哌可酸;氮已环丑酸化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间焦谷氨酸血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53394-3 5-Oxoproline+Pipecolate/Phenylalanine [Molar ratio] in DBS

Part Descriptions

LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Phenylalanine (Wikipedia)

LP70201-6 5-Oxoproline+Pipecolate
5-Oxoproline+Pipecolate is a primary marker for Pyroglutamic acidemia. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: 5-Oxoproline+Pipecolate/Phenylalanine
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 5-Oxoproline+Pipecolate/Phe DBS-sRto
Display Name: 5-Oxoproline+Pipecolate/Phenylalanine (DBS) [Molar ratio]
Consumer Name Alpha Get Info: 5-Oxoproline+Pipecolate/Phenylalanine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.70
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	5-Oxoprolina+Pipecolato/Fenilalanina:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	5-oxoprolina + pipecolate / fenilalanina:Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Pyroglutamate+pipécolate/phénylalanine:Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	5-oxoproline+Pipécolate/Phénylalanine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	5-oxoproline+Pipécolate/Phénylalanine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	5-Oxoprolina+Pipecolato/Fenilalanina:Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	5-oxoproline + pipecolaat/fenylalanine:molaire verhouding:moment:gedroogde bloedspot:kwantitatief: Synonyms: phenylalanine
pt-BR	Portuguese (Brazil)	5-oxoprolina+Pipecolate/Fenilalanina:SCrto:Pt:SgPapel:Qn: Synonyms: Pipa; Pipecolic acid; Phe; PPA; 5Oxoproline; Oxopro; Pyroglutamate; Pyroglutamic acid; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry; PKU
ru-RU	Russian (Russian Federation)	5-Оксопролин+Пипеколат/Фенилаланин:МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	5-Okzoprolin+Pipekolat/Fenilalanin:SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	5-羟脯氨酸+哌啶酸/苯丙氨酸:物质的量比率:时间点:全血.斑点:定量型: Synonyms: 5-羟脯氨酸+哌可酸 Phe Phe;PPA;苯基丙氨酸 PKU 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 六氢吡啶羧酸;刚性环状非蛋白质氨基酸;哌可酸;氮已环丑酸化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间焦谷氨酸物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值苯丙酮尿苯丙酮尿症苯丙酮酸尿症血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53150-9 Alanine+Beta Alanine+Sarcosine [Moles/volume] in DBS

Part Descriptions

LP70080-4 Alanine+Beta Alanine+Sarcosine
Alanine+Beta Alanine+Sarcosine is a secondary marker for Pyruvate carboxylase deficiency and Primary lactic acidemia (various types). Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Alanine+Beta Alanine+Sarcosine
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Ala+B-Ala+Sar DBS-sCnc
Display Name: Alanine+Beta Alanine+Sarcosine (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Alanine+Beta alanine+Sarcosine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 18874

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Alanina+ Beta alanina+ Sarcosina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Alanina + Beta Alanina + Sarcosina:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Alaniin + Beetaalaniin + sarkosiin:SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Alanine+bêta alanine+sarcosine:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Alanine+Beta Alanine+Sarcosine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Alanine+ Bêta-alanine+ Sarcosine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Alanina+Beta Alanina+Sarcosina:SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	alanine + bèta-alanine + sarcosine:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Alanina+Beta Alanina+Sarcosina:SCnc:Pt:SgPapel:Qn: Synonyms: Sar; Sarc; B-Alanine; Bala; B-Ala; Ala+B-Ala+Sar; Ala; L-alanine; Alpha alanine; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; B; Chemistry
ru-RU	Russian (Russian Federation)	Аланин+Бета Аланин+Саркозин:МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Бета-аланин Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Alanin+Beta Alanin+Sarkozin:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	丙氨酸+Beta 丙氨酸+肌氨酸:物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Ala;Alpha 丙氨酸;Alpha-丙氨酸;L-Ala;L-丙氨酸;α丙氨酸;α-丙氨酸;丙胺酸 B B-Ala;Beta-丙氨酸;β丙氨酸;β-丙氨酸 N甲基甘氨酸;N-甲基甘氨酸 β 丙氨酸+Beta 丙氨酸+肌胺酸;丙氨酸+β丙氨酸+肌氨酸克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液贝塔

Example Units

Unit	Source
umol/L	Example UCUM Units

53393-5 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phenylalanine+Tyrosine [Molar ratio] in DBS

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phenylalanine+Tyrosine
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Aile+Ile+Leu+Hyp+Val/Phe+Tyr DBS-sRto
Display Name: Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phenylalanine+Tyrosine (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phenylalanine+Tyrosine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina + Valina/Fenilalanina+Tirosina:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina + Valina / Fenilalanina + Tirosina:Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Alloisoleucine+isoleucine+leucine+hydroxyproline+valine/phénylalanine+tyrosine:Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phénylalanine+tyrosine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif: Synonyms: OH-Proline
fr-CA	French (Canada)	Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phénylalanine+tyrosine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Alloisoleucina+Isoleucina+Leucina+Idrossiprolina+Valina/Fenilalanina+Tirosina:Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	alloisoleucine + isoleucine + leucine + hydroxyproline + valine/fenylalanine + tyrosine:molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Aloisoleucina+Isoleucina+Leucina+Hidroxiprolina+Valina/Fenilalanina+Tirosina:SCrto:Pt:SgPapel:Qn: Synonyms: ; Aile+Ile+Leu+Hyp+Val; Val; Tyr; Phe+Tyr; PPA; Phe; Leu; Ile+Leu; Ile; OH-Proline; Hydrxprol; Hydrxproln; Hydrxyprln; Hydroxyprol; Hydroxy-proline; Ohpro; Hydroxylproline; Hyp; Aile+Ile+Leu+Hyp+Val; Aile+Ile+Leu+Hyp; alloIle; aIle; Allo-isoleucine; Phe+Tyr; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry; PKU
ru-RU	Russian (Russian Federation)	Аллоизолейцин+Изолейцин+Лейцин+Гидроксипролин+Валин/Фенилаланин+Тирозин:МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Alloizolösin+İzolösin+Lösin+Hidroksiprolin+Valin/Fenilalanin+Tirozin:SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	别异亮氨酸+异亮氨酸+亮氨酸+羟脯氨酸+缬氨酸/苯丙氨酸+酪氨酸:物质的量比率:时间点:全血.斑点:定量型: Synonyms: 3-对羟苯基丙氨酸;Tyr Alpha-氨基异戊酸;Val;α-氨基异戊酸 Hyp;OH-脯氨酸;羟脯氨酸 Ile;异白氨酸 Ile+Leu;异亮氨酸+亮氨酸 Leu;异己氨酸;白氨酸 Phe;PPA;苯基丙氨酸 Phe+Tyr Phe+Tyr;Phe+Tyrosine;苯丙氨酸与酪氨酸;苯基丙氨酸+酪氨酸;苯基丙氨酸与酪氨酸 PKU 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 别异白氨酸化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值苯丙酮尿苯丙酮尿症苯丙酮酸尿症血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53152-5 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline [Moles/volume] in DBS

Part Descriptions

LP70081-2 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline
Alloisoleucine+Isoleucine+Leucine+Hydroxyproline is a primary marker for Maple syrup urine disease and Hydroxyprolinemia Source: Regenstrief LOINC

Observation Required in Panel

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Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Alloisoleucine+Isoleucine+Leucine+Hydroxyproline
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Aile+Ile+Leu+Hyp DBS-sCnc
Display Name: Alloisoleucine+Isoleucine+Leucine+Hydroxyproline (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Alloisoleucine+Isoleucine+Leucine+Hydroxyproline, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 19300

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Alloisoleutsiin + isoleutsiin + leutsiin + hüdroksüproliin:SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Alloisoleucine+isoleucine+leucine+hydroxyproline:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Alloisoleucine+Isoleucine+Leucine+Hydroxyproline:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif: Synonyms: OH-Proline
fr-CA	French (Canada)	Alloisoleucine+Isoleucine+Leucine+Hydroxyproline:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Alloisoleucina+Isoleucina+Leucina+Idrossiprolina:SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	alloisoleucine + isoleucine + leucine + hydroxyproline:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Aloisoleucina+Isoleucina+Leucina+Hidroxiprolina:SCnc:Pt:SgPapel:Qn: Synonyms: Leu; Ile+Leu; Ile; OH-Proline; Hydrxprol; Hydrxproln; Hydrxyprln; Hydroxyprol; Hydroxy-proline; Ohpro; Hydroxylproline; Hyp; Aile+Ile+Leu+Hyp; alloIle; aIle; Allo-isoleucine; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Аллоизолейцин+Изолейцин+Лейцин+Гидроксипролин:МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Alloizolösin+İzolösin+Lösin+Hidroksiprolin:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	别异亮氨酸+异亮氨酸+亮氨酸+羟脯氨酸:物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Hyp;OH-脯氨酸;羟脯氨酸 Ile;异白氨酸 Ile+Leu;异亮氨酸+亮氨酸 Leu;异己氨酸;白氨酸克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 别异白氨酸化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53153-3 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phenylalanine [Molar ratio] in DBS

Term Description

Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phenylalanine is a primary marker for Maple syrup urine disease and Hydroxyprolinemia
Source: Regenstrief LOINC

Part Descriptions

LP70081-2 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline
Alloisoleucine+Isoleucine+Leucine+Hydroxyproline is a primary marker for Maple syrup urine disease and Hydroxyprolinemia Source: Regenstrief LOINC

LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Phenylalanine (Wikipedia)

Observation Required in Panel

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Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phenylalanine
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Aile+Ile+Leu+Hyp/Phe DBS-sRto
Display Name: Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phenylalanine (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phenylalanine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina/Fenilalanina:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina / Fenilalanina:Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Alloisoleucine+isoleucine+leucine+hydroxyproline/phénylalanine:Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phénylalanine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif: Synonyms: OH-Proline
fr-CA	French (Canada)	Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phénylalanine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Alloisoleucina+Isoleucina+Leucina+Idrossiprolina/Fenilalanina:Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	alloisoleucine + isoleucine + leucine + hydroxyproline/fenylalanine:molaire verhouding:moment:gedroogde bloedspot:kwantitatief: Synonyms: phenylalanine
pt-BR	Portuguese (Brazil)	Aloisoleucina+Isoleucina+Leucina+Hidroxiprolina/Fenilalanina:SCrto:Pt:SgPapel:Qn: Synonyms: ; Aile+Ile+Leu+Hyp; Phe; PPA; Leu; Ile+Leu; Ile; OH-Proline; Hydrxprol; Hydrxproln; Hydrxyprln; Hydroxyprol; Hydroxy-proline; Ohpro; Hydroxylproline; Hyp; Aile+Ile+Leu+Hyp; alloIle; aIle; Allo-isoleucine; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry; PKU
ru-RU	Russian (Russian Federation)	Аллоизолейцин+Изолейцин+Лейцин+Гидроксипролин/Фенилаланин:МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Alloizolösin+İzolösin+Lösin+Hidroksiprolin/Fenilalanin:SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	别异亮氨酸+异亮氨酸+亮氨酸+羟脯氨酸/苯丙氨酸:物质的量比率:时间点:全血.斑点:定量型: Synonyms: Hyp;OH-脯氨酸;羟脯氨酸 Ile;异白氨酸 Ile+Leu;异亮氨酸+亮氨酸 Leu;异己氨酸;白氨酸 Phe Phe;PPA;苯基丙氨酸 PKU 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 别异白氨酸化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值苯丙酮尿苯丙酮尿症苯丙酮酸尿症血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53154-1 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in DBS

Term Description

Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine is a primary marker for Maple syrup urine disease and Hydroxyprolinemia.
Source: Regenstrief LOINC

Part Descriptions

LP70081-2 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline
Alloisoleucine+Isoleucine+Leucine+Hydroxyproline is a primary marker for Maple syrup urine disease and Hydroxyprolinemia Source: Regenstrief LOINC

LP70161-2 Alanine
Alanine is a non-essential amino acid that exists as two distinct enantiomers: L-alanine and D-alanine. Alanine is one of the primary amino acids (secondary to leucine) used for protein construction. It is produced from pyruvate, exists in high levels in plasma, and is involved in the metabolism of sugar and organic acids.[PubChem: Alanine] Alanine acts as a substrate for alanine aminotransferase (ALT), an enzyme commonly measured to determine liver health. Increased alanine levels are seen in patients with lactic acidosis, carbamoyl phosphate synthetase deficiency, histidinemia, hyperprolinemia, and ornithine transcarbamylase deficiency. In patients with a mitochondrial disease, elevated alanine levels are primarily seen during times of physiologic stress or regression. PMID: 18243024 Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Aile+Ile+Leu+Hyp/Alanine DBS-sRto
Display Name: Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 19229

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina/Alanina:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina / Alanina:Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Alloisoleucine+isoleucine+leucine+hydroxyproline/alanine:Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif: Synonyms: OH-Proline
fr-CA	French (Canada)	Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Alloisoleucina+Isoleucina+Leucina+Idrossiprolina/Alanina:Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	alloisoleucine + isoleucine + leucine + hydroxyproline/alanine:molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Aloisoleucina+Isoleucina+Leucina+Hidroxiprolina/Alanina:SCrto:Pt:SgPapel:Qn: Synonyms: ; Aile+Ile+Leu+Hyp; Leu; Ile+Leu; Ile; OH-Proline; Hydrxprol; Hydrxproln; Hydrxyprln; Hydroxyprol; Hydroxy-proline; Ohpro; Hydroxylproline; Hyp; Aile+Ile+Leu+Hyp; alloIle; aIle; Allo-isoleucine; Ala; L-alanine; Alpha alanine; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Аллоизолейцин+Изолейцин+Лейцин+Гидроксипролин/Аланин:МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Alloizolösin+İzolösin+Lösin+Hidroksiprolin/Alanin:SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	别异亮氨酸+异亮氨酸+亮氨酸+羟脯氨酸/丙氨酸:物质的量比率:时间点:全血.斑点:定量型: Synonyms: Ala Ala;Alpha 丙氨酸;Alpha-丙氨酸;L-Ala;L-丙氨酸;α丙氨酸;α-丙氨酸;丙胺酸 Hyp;OH-脯氨酸;羟脯氨酸 Ile;异白氨酸 Ile+Leu;异亮氨酸+亮氨酸 Leu;异己氨酸;白氨酸全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 别异白氨酸化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

47562-4 Arginine [Moles/volume] in DBS

Part Descriptions

LP15416-8 Arginine
Arginine (symbol Arg or R) is an amino acid. The L-form (L-arginine) is one of the 20 most common natural amino acids. In mammals, arginine is classified as a conditionally essential amino acid, depending on the developmental stage and health status of the individuals. Infants are unable to effectively synthesize arginine, making it nutritionally essential for them. Adults, however, are able to synthesize arginine in the urea cycle. The body uses arginine for a variety of purposes, including boosting immune system function and improving blood flow. Arginine sources include diet, medication, and/or nutritional supplements. Dietary sources include meat, dairy products and fish. Source: Medline Plus, MedlinePlus: L-arginine

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Arginine
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Arginine DBS-sCnc
Display Name: Arginine (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Arginine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.21
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 19379

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-AT	German (Austria)	Synonyms: Arginin /TB
es-ES	Spanish (Spain)	Arginina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Arginina:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Arginiin:SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Arginine:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Arginine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Arginine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Arginina:SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	arginine:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Arginina:SCnc:Pt:SgPapel:Qn: Synonyms: Arg; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Аргинин:МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Arjinin:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	精氨酸:物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 2-氨基-5-胍基戊酸;Arg;胍基戊氨酸克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

75214-7 Arginine/Ornithine [Molar ratio] in DBS

Term Description

Arginine/Ornithine is a marker for argininemia, which is one of the secondary conditions on the HHS Secretary's Recommended Uniform Screening Panel for newborn screening.
Source: Regenstrief LOINC

Part Descriptions

LP15416-8 Arginine
Arginine (symbol Arg or R) is an amino acid. The L-form (L-arginine) is one of the 20 most common natural amino acids. In mammals, arginine is classified as a conditionally essential amino acid, depending on the developmental stage and health status of the individuals. Infants are unable to effectively synthesize arginine, making it nutritionally essential for them. Adults, however, are able to synthesize arginine in the urea cycle. The body uses arginine for a variety of purposes, including boosting immune system function and improving blood flow. Arginine sources include diet, medication, and/or nutritional supplements. Dietary sources include meat, dairy products and fish. Source: Medline Plus, MedlinePlus: L-arginine

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Arginine/Ornithine
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Arginine/Ornithine DBS-sRto
Display Name: Arginine/Ornithine (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Arginine/Ornithine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.48
Last Updated: Version 2.61
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Arginina/Ornitina:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Arginina / Ornitina:Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Arginine/ornithine:Moles ratio:Ponctuel:Sang buvard:Numérique:
it-IT	Italian (Italy)	Arginina/Ornitina:Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	arginine/ornithine:molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Arginina/Ornitina::Pt:SgPapel:Qn:
ru-RU	Russian (Russian Federation)	Аргинин/Орнитин:МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Arjinin/Ornitin:SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	精氨酸/鸟氨酸:物质的量比率:时间点:全血.斑点:定量型: Synonyms: 2,5-二氨基戊酸;Orn 2-氨基-5-胍基戊酸;Arg;胍基戊氨酸全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{ratio}	Example UCUM Units

53398-4 Arginine/Phenylalanine [Molar ratio] in DBS

Part Descriptions

LP15416-8 Arginine
Arginine (symbol Arg or R) is an amino acid. The L-form (L-arginine) is one of the 20 most common natural amino acids. In mammals, arginine is classified as a conditionally essential amino acid, depending on the developmental stage and health status of the individuals. Infants are unable to effectively synthesize arginine, making it nutritionally essential for them. Adults, however, are able to synthesize arginine in the urea cycle. The body uses arginine for a variety of purposes, including boosting immune system function and improving blood flow. Arginine sources include diet, medication, and/or nutritional supplements. Dietary sources include meat, dairy products and fish. Source: Medline Plus, MedlinePlus: L-arginine

LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Phenylalanine (Wikipedia)

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Arginine/Phenylalanine
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Arginine/Phe DBS-sRto
Display Name: Arginine/Phenylalanine (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Arginine/Phenylalanine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Arginina/Fenilalanina:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Arginina / Fenilalanina:Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Arginine/phénylalanine:Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Arginine/Phénylalanine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Arginine/Phénylalanine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Arginina/Fenilalanina:Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	arginine/fenylalanine:molaire verhouding:moment:gedroogde bloedspot:kwantitatief: Synonyms: phenylalanine
pt-BR	Portuguese (Brazil)	Arginina/Fenilalanina:SCrto:Pt:SgPapel:Qn: Synonyms: Arg; Phe; PPA; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry; PKU
ru-RU	Russian (Russian Federation)	Аргинин/Фенилаланин:МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Arjinin/Fenilalanin:SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	精氨酸/苯丙氨酸:物质的量比率:时间点:全血.斑点:定量型: Synonyms: 2-氨基-5-胍基戊酸;Arg;胍基戊氨酸 Phe Phe;PPA;苯基丙氨酸 PKU 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值苯丙酮尿苯丙酮尿症苯丙酮酸尿症血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53062-6 Argininosuccinate [Moles/volume] in DBS

Part Descriptions

LP15417-6 Argininosuccinate
Argininosuccinic acid is a chemical compound that belongs to the class of the amino acids. Some cells synthesize it from citrulline, aspartic acid and use it as a precursor for arginine in the urea cycle or Citrulline-NO cycle. The enzyme that catalyzes the reaction is ASS. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Argininosuccinate (Wikipedia)

LP15417-6 Argininosuccinate
Argininosuccinate is a primary marker for Argininosuccinic aciduria. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Argininosuccinate
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Argininosuccinate DBS-sCnc
Display Name: Argininosuccinate (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Argininosuccinate, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 19840

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Argininosuccinat:Stoffmengenkonzentration:Zeitpunkt:Blut.Tropfen:Quantitativ:
es-ES	Spanish (Spain)	Arginosuccinato:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Argininosuccinato:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Argininosuksinaat:SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Argininosuccinate:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Argininosuccinate:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Argininosuccinate:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Argininosuccinato:SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	argininosuccinaat:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Argininosuccinato:SCnc:Pt:SgPapel:Qn: Synonyms: ASA; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Аргининосукцинат:МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Arjininosüksinat:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	精氨基琥珀酸:物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间精氨(基)琥珀酸;精氨琥珀酸;精氨酸代琥珀酸;精胺琥珀酸血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53200-2 Argininosuccinate/Arginine [Molar ratio] in DBS

Term Description

Argininosuccinate/Arginine is a primary marker for Argininosuccinic aciduria.
Source: Regenstrief LOINC

Part Descriptions

LP15417-6 Argininosuccinate
Argininosuccinic acid is a chemical compound that belongs to the class of the amino acids. Some cells synthesize it from citrulline, aspartic acid and use it as a precursor for arginine in the urea cycle or Citrulline-NO cycle. The enzyme that catalyzes the reaction is ASS. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Argininosuccinate (Wikipedia)

LP15417-6 Argininosuccinate
Argininosuccinate is a primary marker for Argininosuccinic aciduria. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Argininosuccinate/Arginine
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Argininosuccinate/Arginine DBS-sRto
Display Name: Argininosuccinate/Arginine (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Argininosuccinate/Arginine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Arginosuccinato/Arginina:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Argininosuccinato / Arginina:Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Argininosuccinate/arginine:Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Argininosuccinate/Arginine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Argininosuccinate/Arginine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Argininosuccinato/Arginina:Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	argininosuccinaat/arginine:molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Argininosuccinato/Arginina:SCrto:Pt:SgPapel:Qn: Synonyms: ASA; Arg; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Аргининосукцинат/Аргинин:МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Arjininosüksinat/Arjinin:SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	精氨基琥珀酸/精氨酸:物质的量比率:时间点:全血.斑点:定量型: Synonyms: 2-氨基-5-胍基戊酸 2-氨基-5-胍基戊酸;Arg;胍基戊氨酸全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值精氨(基)琥珀酸;精氨琥珀酸;精氨酸代琥珀酸;精胺琥珀酸血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53155-8 Asparagine+Ornithine [Moles/volume] in DBS

Part Descriptions

LP70082-0 Asparagine+Ornithine
Asparagine+Ornithine is a primary marker for Hyper ORN. Secondary marker for Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Asparagine+Ornithine
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Asn+Orn DBS-sCnc
Display Name: Asparagine+Ornithine (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Asparagine+Ornithine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 17405

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Asparragina + Ornitina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Asparagina + Ornitina:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Asparagiin + ornitiin:SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Asparagine+ornithine:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Asparagine+Ornithine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Asparagine+Ornithine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Asparagina+Ornitina:SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	asparagine + ornithine:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Asparagina+Ornitina:SCnc:Pt:SgPapel:Qn: Synonyms: Orn; Asn+Orn; Asn; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Аспарагин+Орнитин:МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Asparajin+ornitin:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	天冬酰胺+鸟氨酸:物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 2,5-二氨基戊酸;Orn Alpha 氨基丁二酸一酰胺;Alpha-氨基丁二酸一酰胺;Asn;a氨基丁二酸一酰胺;天冬酰胺酸;天门冬氨;天门冬素;天门冬酰胺;天门冬醯胺酸;天门科素;氨羰丙氨酸克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53395-0 Asparagine+Ornithine/Serine [Molar ratio] in DBS

Part Descriptions

LP70082-0 Asparagine+Ornithine
Asparagine+Ornithine is a primary marker for Hyper ORN. Secondary marker for Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Asparagine+Ornithine/Serine
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Asn+Orn/Serine DBS-sRto
Display Name: Asparagine+Ornithine/Serine (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Asparagine+Ornithine/Serine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.70
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Asparragina + Ornitina/Serina:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Asparagina + Ornitina / Serina:Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Asparagine+ornithine/sérine:Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Asparagine+Ornithine/Sérine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Asparagine+Ornithine/Sérine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Asparagina+Ornitina/Serina:Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	asparagine + ornithine/serine:molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Asparagina+Ornitina/Serina:SCrto:Pt:SgPapel:Qn: Synonyms: ; Asn+Orn; Ser; Orn; Asn+Orn; Asn; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Аспарагин+Орнитин/Серин:МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Asparajin+ornitin/Serin:SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	天冬酰胺+鸟氨酸/丝氨酸:物质的量比率:时间点:全血.斑点:定量型: Synonyms: 2,5-二氨基戊酸;Orn Alpha 氨基丁二酸一酰胺;Alpha-氨基丁二酸一酰胺;Asn;a氨基丁二酸一酰胺;天冬酰胺酸;天门冬氨;天门冬素;天门冬酰胺;天门冬醯胺酸;天门科素;氨羰丙氨酸 Ser 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53396-8 Asparagine+Ornithine/Phenylalanine [Molar ratio] in DBS

Part Descriptions

LP70082-0 Asparagine+Ornithine
Asparagine+Ornithine is a primary marker for Hyper ORN. Secondary marker for Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome. Source: Regenstrief LOINC

LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Phenylalanine (Wikipedia)

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Asparagine+Ornithine/Phenylalanine
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Asn+Orn/Phe DBS-sRto
Display Name: Asparagine+Ornithine/Phenylalanine (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Asparagine+Ornithine/Phenylalanine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.70
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Asparragina + Ornitina/Fenilalanina:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Asparagina + Ornitina / Fenilalanina:Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Asparagine+ornithine/phénylalanine:Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Asparagine+Ornithine/Phénylalanine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Asparagine+Ornithine/Phénylalanine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Asparagina+Ornitina/Fenilalanina:Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	asparagine + ornithine/fenylalanine:molaire verhouding:moment:gedroogde bloedspot:kwantitatief: Synonyms: phenylalanine
pt-BR	Portuguese (Brazil)	Asparagina+Ornitina/Fenilalanina:SCrto:Pt:SgPapel:Qn: Synonyms: ; Asn+Orn; Phe; PPA; Orn; Asn+Orn; Asn; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry; PKU
ru-RU	Russian (Russian Federation)	Аспарагин+Орнитин/Фенилаланин:МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Asparajin+ornitin/Fenilalanin:SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	天冬酰胺+鸟氨酸/苯丙氨酸:物质的量比率:时间点:全血.斑点:定量型: Synonyms: 2,5-二氨基戊酸;Orn Alpha 氨基丁二酸一酰胺;Alpha-氨基丁二酸一酰胺;Asn;a氨基丁二酸一酰胺;天冬酰胺酸;天门冬氨;天门冬素;天门冬酰胺;天门冬醯胺酸;天门科素;氨羰丙氨酸 Phe Phe;PPA;苯基丙氨酸 PKU 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值苯丙酮尿苯丙酮尿症苯丙酮酸尿症血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

47573-1 Aspartate [Moles/volume] in DBS

Part Descriptions

LP15425-9 Aspartate
Aspartic acid (Asp), also known as aspartate, the name of its anion, is one of the 20 natural proteinogenic amino acids which are the building blocks of proteins. As with each of the 20 natural amino acids, there are two abbreviations commonly used to designate aspartic acid: Asp (three letter) and D (one letter). The abbreviations signifying a choice of either aspartic acid or asparagine are Asx (three-letter) and B (one letter). As its name indicates, aspartic acid is the carboxylic acid analog of asparagine. It is non-essential in mammals, and might serve as an excitatory neurotransmitter in the brain. It is also a metabolite in the urea cycle, and participates in gluconeogenesis. As a neurotransmitter, aspartic acid may provide resistance to fatigue and thus lead to endurance, although the evidence to support this idea is not strong. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Aspartate (Wikipedia)

LP15425-9 Aspartate
Aspartic acid is a dicarboxylic amino acid with acidic R groups which is a cosubstrate with glutamic acid for aspartate aminotransferase (AST). Aspartic acid is used in pyrimidine biosynthesis and is a metabolite in the urea cycle and participates in gluconeogenesis. Increased in dicarboxylic aminoaciduria. (Information from ARUP Laboratories 9/14/06) Source: Regenstrief Institute

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Aspartate
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Aspartate DBS-sCnc
Display Name: Aspartate (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Aspartate, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.21
Last Updated: Version 2.70
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Aspartato:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Aspartato:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Aspartaat:SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Aspartate:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Aspartate:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Aspartate:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Aspartato:SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	aspartaat:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Aspartato:SCnc:Pt:SgPapel:Qn: Synonyms: Asp; Aspartic acid; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Аспартат:МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Aspartat:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	天门冬氨酸:物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Asp;天冬氨酸;门冬氨酸克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

42892-0 Citrulline [Moles/volume] in DBS

Part Descriptions

LP15504-1 Citrulline
Citrulline is an alpha amino acid, produced from ornithine and carbamoyl phosphate during the urea cycle. Its name is derived from citrullus, the Latin word for watermelon, from which it was first isolated. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Citrulline (Wikipedia)

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Citrulline
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Citrulline DBS-sCnc
Display Name: Citrulline (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Citrulline, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.16
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 16315

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Citrullin:Stoffmengenkonzentration:Zeitpunkt:Blut.Tropfen:Quantitativ:
de-AT	German (Austria)	Synonyms: Citrullin /TB
es-ES	Spanish (Spain)	Citrulina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Citrulina:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Citrulline:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Citrulline:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Citrulline:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Citrullina:SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
ko-KR	Korean (Korea, Republic Of)	시트룰린:물질농도:검사시점:필터지혈액:정량:
nl-NL	Dutch (Netherlands)	citrulline:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Citrulina:SCnc:Pt:SgPapel:Qn: Synonyms: Cit; Citr; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Цитруллин:МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Sitrüllin:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	瓜氨酸:物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Citr 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

54092-2 Citrulline/Arginine [Molar ratio] in DBS

Part Descriptions

LP15504-1 Citrulline
Citrulline is an alpha amino acid, produced from ornithine and carbamoyl phosphate during the urea cycle. Its name is derived from citrullus, the Latin word for watermelon, from which it was first isolated. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Citrulline (Wikipedia)

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Citrulline/Arginine
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Citrulline/Arginine DBS-sRto
Display Name: Citrulline/Arginine (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Citrulline/Arginine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.26
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 15794

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Citrulina/Arginina:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Citrulina / Arginina:Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-CA	French (Canada)	Citrulline/Arginine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Citrulline/arginine:Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Citrulline/Arginine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Citrullina/Arginina:Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	citrulline/arginine:molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Citrulina/Arginina:SCrto:Pt:SgPapel:Qn: Synonyms: Cit; Citr; Arg; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Цитруллин/Аргинин:МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Sitrüllin/Arjinin:SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	瓜氨酸/精氨酸:物质的量比率:时间点:全血.斑点:定量型: Synonyms: 2-氨基-5-胍基戊酸 2-氨基-5-胍基戊酸;Arg;胍基戊氨酸 Citr 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53157-4 Citrulline/Phenylalanine [Molar ratio] in DBS

Term Description

Citrulline/Phenylalanine is a primary marker for Citrullinemia type I, Tyrosinemia type II, Citrullinemia type II and Pyruvate carboxylase deficiency. Secondary marker for Carbamoyltransferase deficiency, Ornithine transcarbamylase deficiency, and Pyruvate carboxylase deficiency.
Source: Regenstrief LOINC

Part Descriptions

LP15504-1 Citrulline
Citrulline is an alpha amino acid, produced from ornithine and carbamoyl phosphate during the urea cycle. Its name is derived from citrullus, the Latin word for watermelon, from which it was first isolated. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Citrulline (Wikipedia)

LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Phenylalanine (Wikipedia)

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Citrulline/Phenylalanine
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Citrulline/Phe DBS-sRto
Display Name: Citrulline/Phenylalanine (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Citrulline/Phenylalanine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Citrulina/Fenilalanina:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Citrulina / Fenilalanina:Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Citrulline/phénylalanine:Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Citrulline/Phénylalanine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Citrulline/Phénylalanine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Citrullina/Fenilalanina:Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	citrulline/fenylalanine:molaire verhouding:moment:gedroogde bloedspot:kwantitatief: Synonyms: phenylalanine
pt-BR	Portuguese (Brazil)	Citrulina/Fenilalanina:SCrto:Pt:SgPapel:Qn: Synonyms: Cit; Citr; Phe; PPA; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry; PKU
ru-RU	Russian (Russian Federation)	Цитруллин/Фенилаланин:МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Sitrüllin/Fenilalanin:SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	瓜氨酸/苯丙氨酸:物质的量比率:时间点:全血.斑点:定量型: Synonyms: Citr Phe Phe;PPA;苯基丙氨酸 PKU 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值苯丙酮尿苯丙酮尿症苯丙酮酸尿症血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53399-2 Citrulline/Tyrosine [Molar ratio] in DBS

Part Descriptions

LP15504-1 Citrulline
Citrulline is an alpha amino acid, produced from ornithine and carbamoyl phosphate during the urea cycle. Its name is derived from citrullus, the Latin word for watermelon, from which it was first isolated. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Citrulline (Wikipedia)

LP32175-9 Tyrosine
Tyrosine (from the Greek tyros, meaning cheese, as it was first discovered in cheese[ citationneeded ]), 4-hydroxyphenylalanine, or 2-amino-3(4-hydroxyphenyl)-propanoic acid, is one of the 20 amino acids that are used by cells to synthesize proteins. It has a phenol side chain with a hydroxyl group. Upon the location of the hydroxyl group, there are three structural isomers of Tyr, namely para-Tyr (p-Tyr), meta-Tyr (m-Tyr) and ortho-Tyr (o-Tyr). Enzymatically, only the first isomer (p-Tyr) is produced from L-Phe by the Phe-hydroxylase enzyme. The other two isoforms, m-Tyr and o-Tyr can be produced as a consequence of free radical attack on Phe in states with increased oxidative stress. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Tyrosine (Wikipedia)

LP32175-9 Tyrosine
A non-essential amino acid. In animals it is synthesized from PHENYLALANINE. It is also the precursor of EPINEPHRINE; THYROID HORMONES; and melanin. Source: National Library of Medicine, MeSH 2006

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Citrulline/Tyrosine
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Citrulline/Tyr DBS-sRto
Display Name: Citrulline/Tyrosine (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Citrulline/Tyrosine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Citrulina/Tirosina:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Citrulina / Tirosina:Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Citrulline/tyrosine:Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Citrulline/Tyrosine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Citrulline/Tyrosine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Citrullina/Tirosina:Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	citrulline/tyrosine:molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Citrulina/Tirosina:SCrto:Pt:SgPapel:Qn: Synonyms: Cit; Citr; Tyr; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Цитруллин/Тирозин:МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Sitrüllin/Tirozin:SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	瓜氨酸/酪氨酸:物质的量比率:时间点:全血.斑点:定量型: Synonyms: 3-对羟苯基丙氨酸;Tyr Citr Tyr 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

47623-4 Glutamate [Moles/volume] in DBS

Part Descriptions

LP15605-6 Glutamate
Glutamic acid (Glu), also referred to as glutamate (the anion), is one of the 20 proteinogenic, essential amino acids. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Glutamate (Wikipedia)

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Glutamate
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Glutamate DBS-sCnc
Display Name: Glutamate (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Glutamate, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.21
Last Updated: Version 2.70
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Glutamato:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Glutamato:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Glutamaat:SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Glutamate:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Glutamate:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Glutamate:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Glutammato:SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	glutamaat:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Glutamato:SCnc:Pt:SgPapel:Qn: Synonyms: Glu; Glutamic acid; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Глутамат:МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Glutamat:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	谷氨酸:物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Glu 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

47633-3 Glycine [Moles/volume] in DBS

Part Descriptions

LP15620-5 Glycine
A non-essential amino acid found primarily in gelatin and silk fibroin. It also inhibits neurotransmitters. Source: National Library of Medicine, MeSH 2006

LP15620-5 Glycine
Glycine is a hydrophilic amino acid with uncharged polar groups and is used in the biosynthesis of purines and porphyrins. Increased with nonketotic hyperglycinemia, arginosuccinic aciduria, carbamoyl phosphate synthetase deficiency, lysinuric protein intolerance, hyperprolinemia, iminoglycinuria, and ornithine transcarbamylase deficiency. Source: Regenstrief Institute

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Glycine
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Glycine DBS-sCnc
Display Name: Glycine (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Glycine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.21
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 19175

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-AT	German (Austria)	Synonyms: Glycin /TB
es-ES	Spanish (Spain)	Glicina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Glicina:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Glütsiin:SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Glycine:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Glycine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Glycine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Glicina:SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	glycine:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Glicina:SCnc:Pt:SgPapel:Qn: Synonyms: Gly; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Глицин:МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Glisin:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	甘氨酸:物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Gly;氨基醋酸;革氨酸克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

93488-5 Guanidinoacetate [Moles/volume] in DBS

Part Descriptions

LP30825-1 Guanidinoacetate
Guanidinoacetate is the immediate precursor of creatine. Guanidinoacetate methyltransferase (GAMT) is the enzyme responsible for converting guanidinoacetate to creatine, and GAMT deficiency causes is a rare, autosomal recessive disorder whose manifestations include seizures, developmental delay, learning difficulties, and autism. Motor function is relatively spared. GAMT deficiency leads to elevated levels of plasma and urine guanidinoacetate, and low plasma creatine and creatinine levels. Elevated levels of guanidinoacetate in the brain are one cause of seizures in patients with GAMT deficiency. The primary treatment is creatine supplementation, which may be combined with ornithine supplementation and arginine restriction. Early diagnosis and treatment may prevent organ damage and preserve cognitive function. If the diagnosis does not occur early and brain damage has already occurred at the time of diagnosis, creatine supplementation can still help control seizures and improve quality of life. PMID: 28119378 Source: Regenstrief LOINC

Fully-Specified Name

Component: Guanidinoacetate
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Guanidinoacetate DBS-sCnc
Display Name: Guanidinoacetate (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Guanidinoacetate, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.67
Last Updated: Version 2.67
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Guanidinoacetato:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
es-ES	Spanish (Spain)	Guanidinoacetato:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
et-EE	Estonian (Estonia)	Guanidinoatsetaat:SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Guanidinoacétate:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Guanidinoacétate:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Guanidinoacétate:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Guanidinoacetato:SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	guanidinoacetaat:mol/volume:moment:gedroogde bloedspot:kwantitatief:
ru-RU	Russian (Russian Federation)	Гуанидинацетат:МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Guanidinoasetat:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	胍基乙酸:物质的量浓度:时间点:全血.斑点:定量型: Synonyms: GAA;胍乙酸;胍基醋酸克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

47643-2 Histidine [Moles/volume] in DBS

Part Descriptions

LP15637-9 Histidine
An essential amino acid that is required for the synthesis of histamine. Source: National Library of Medicine, MeSH 2006

LP15637-9 Histidine
Histidine is one of the 20 naturally occuring amino acids with basic R groups. It serves as a precursor for histamine and carnosine biosynthesis. Its levels are increased with histidinemia and formiminoglutamic aciduria. (Information from ARUP Laboratories 9/14/06). Common dietary sources of histidine are: apples, pomogranates, alfalfa, beets, carrots, celery, cucumber, dandelion, endive, garlic, radish, spinach, and turnip greens. Source: Regenstrief Institute

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Histidine
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Histidine DBS-sCnc
Display Name: Histidine (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Histidine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.21
Last Updated: Version 2.70
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Histidina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Histidina:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Histidiin:SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Histidine:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Histidine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Histidine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Istidina:SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	histidine:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Histidina:SCnc:Pt:SgPapel:Qn: Synonyms: His; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Гистидин:МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Histidin:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	组氨酸:物质的量浓度:时间点:全血.斑点:定量型: Synonyms: His;组织氨基酸;组胺酸克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53158-2 Homocitrulline [Moles/volume] in DBS

Part Descriptions

LP15640-3 Homocitrulline
Homocitrulline is a primary marker for Hyperornithinemia-Hyperammonemia-Homocitrullinuria. Secondary marker for Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency. Source: Regenstrief Institute

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Fully-Specified Name

Component: Homocitrulline
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Homocitrulline DBS-sCnc
Display Name: Homocitrulline (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Homocitrulline, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.70
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Homocitrulina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Homocitrulina:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Homotsitruliin:SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Homocitrulline:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Homocitrulline:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Homocitrulline:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Omocitrullina:SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	homocitrulline:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Homocitrulina:SCnc:Pt:SgPapel:Qn: Synonyms: Hci; HOMCIT; Homocit; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Гомоцитруллин:МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Homositrüllin:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	同型瓜氨酸:物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Hci 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

47689-5 Lysine [Moles/volume] in DBS

Part Descriptions

LP15716-1 Lysine
An essential amino acid often added to animal feed. Source: National Library of Medicine, MeSH 2006

LP15716-1 Lysine
Lysine is an essential basic amino acid that plays a major role in calcium absorption and the production of hormones, enzymes, and antibodies. Lack of lysine can result in niacin deficiency and cause the pellagra. Other diseases associated with lysine include hyperlysinemia, lysine intolerance, carbamoyl phosphate synthetase deficiency, and saccharopinuria (saccharopine is an intermediate in the metabolism of lysine). Source: Regenstrief Institute

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Fully-Specified Name

Component: Lysine
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Lysine DBS-sCnc
Display Name: Lysine (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Lysine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.21
Last Updated: Version 2.70
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Lisina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Lisina:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Lüsiin:SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Lysine:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Lysine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Lysine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Lisina:SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	lysine:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Lisina:SCnc:Pt:SgPapel:Qn: Synonyms: Lys; 2,6-diaminohexanoic acid; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Лизин:МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Lizin:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	赖氨酸:物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 2,6-二氨基已酸;Lys;氨基已氨酸;溶细胞素克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

47700-0 Methionine [Moles/volume] in DBS

Part Descriptions

LP15730-2 Methionine
Methionine is an essential nonpolar amino acid, and a lipotropic. Methionine and cysteine are the only sulfur-containing proteinogenic amino acids. The methionine derivative S-adenosyl methionine (SAM) serves as a methyl donor. Methionine plays a role in cysteine, carnitine and taurine synthesis by the transsulfuration pathway, lecithin production, the synthesis of phosphatidylcholine and other phospholipids. Improper conversion of methionine can lead to atherosclerosis. Methionine, a chelating agent, is one of only two amino acids encoded by a single codon (AUG) in the standard genetic code (tryptophan, encoded by UGG, is the other). The codon AUG is also significant, in that it carries the Start message for a ribosome to begin protein translation from mRNA. As a consequence, methionine is incorporated into the N-terminal position of all proteins in eukaryotes and archaea during translation, although it is usually removed by post-translational modification. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Methionine (Wikipedia)

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Type of Entry

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Fully-Specified Name

Component: Methionine
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Methionine DBS-sCnc
Display Name: Methionine (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Methionine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.21
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 16316

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)
94573-3	Tyrosinemia newborn screening follow-up and therapeutic monitoring panel - DBS

Language Variants Get Info

Tag	Language	Translation
de-AT	German (Austria)	Synonyms: Methionin /TB
es-ES	Spanish (Spain)	Metionina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Metionina:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Metioniin:SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Méthionine:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Méthionine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Méthionine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Metionina:SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	methionine:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Metionina:SCnc:Pt:SgPapel:Qn: Synonyms: Met; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Метионин:МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Metiyonin:SubKons:Zmlı:Kan.nokta:Kant:
uk-UA	Ukrainian (Ukraine)	Метіонін:Молярна Концентрація:МоментЧасу:Суха пляма крові (фільтрувальний папір):Кількісно: Synonyms: Blood; Chemistry; DBS; Dried blood spot; Filter paper; FP; Level; Met; Point in time; QNT; Quan; Quant; Quantitative; Random; Substance concentration; WB; Whole blood
zh-CN	Chinese (China)	蛋氨酸:物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Met;甲硫基丁氨酸;甲硫氨酸克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53397-6 Methionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline [Molar ratio] in DBS

Part Descriptions

LP15730-2 Methionine
Methionine is an essential nonpolar amino acid, and a lipotropic. Methionine and cysteine are the only sulfur-containing proteinogenic amino acids. The methionine derivative S-adenosyl methionine (SAM) serves as a methyl donor. Methionine plays a role in cysteine, carnitine and taurine synthesis by the transsulfuration pathway, lecithin production, the synthesis of phosphatidylcholine and other phospholipids. Improper conversion of methionine can lead to atherosclerosis. Methionine, a chelating agent, is one of only two amino acids encoded by a single codon (AUG) in the standard genetic code (tryptophan, encoded by UGG, is the other). The codon AUG is also significant, in that it carries the Start message for a ribosome to begin protein translation from mRNA. As a consequence, methionine is incorporated into the N-terminal position of all proteins in eukaryotes and archaea during translation, although it is usually removed by post-translational modification. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Methionine (Wikipedia)

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Methionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Methionine/Aile+Ile+Leu+Hyp DBS-sRto
Display Name: Methionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Methionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Metionina/Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Metionina / Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina:Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Méthionine/alloisoleucine+isoleucine+leucine+hydroxyproline:Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Méthionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif: Synonyms: OH-Proline
fr-CA	French (Canada)	Méthionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Metionina/Alloisoleucina+Isoleucina+Leucina+Idrossiprolina:Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	methionine/allo-isoleucine + isoleucine + leucine + hydroxyproline:molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Metionina/Aloisoleucina+Isoleucina+Leucina+Hidroxiprolina:SCrto:Pt:SgPapel:Qn: Synonyms: Met; Leu; Ile+Leu; Ile; OH-Proline; Hydrxprol; Hydrxproln; Hydrxyprln; Hydroxyprol; Hydroxy-proline; Ohpro; Hydroxylproline; Hyp; Aile+Ile+Leu+Hyp; alloIle; aIle; Allo-isoleucine; Aile+Ile+Leu+Hyp; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Метионин/Аллоизолейцин+Изолейцин+Лейцин+Гидроксипролин:МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Metiyonin/Alloizolösin+İzolösin+Lösin+Hidroksiprolin:SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	蛋氨酸/别异亮氨酸+异亮氨酸+亮氨酸+羟脯氨酸:物质的量比率:时间点:全血.斑点:定量型: Synonyms: Hyp;OH-脯氨酸;羟脯氨酸 Ile;异白氨酸 Ile+Leu;异亮氨酸+亮氨酸 Leu;异己氨酸;白氨酸 Met;甲硫基丁氨酸;甲硫氨酸全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 别异白氨酸化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53156-6 Methionine/Phenylalanine [Molar ratio] in DBS

Term Description

Methionine/Phenylalanine is a primary marker for Homocystinuria, Hypermethioninemia, Methylene tetrahydrofolate reductase deficiency, Methylcobalamin deficiency and Homocystinuria-megaloblastic anemia. Secondary marker for Methylmalonic aciduria and homocystinuria.
Source: Regenstrief LOINC

Part Descriptions

LP15730-2 Methionine
Methionine is an essential nonpolar amino acid, and a lipotropic. Methionine and cysteine are the only sulfur-containing proteinogenic amino acids. The methionine derivative S-adenosyl methionine (SAM) serves as a methyl donor. Methionine plays a role in cysteine, carnitine and taurine synthesis by the transsulfuration pathway, lecithin production, the synthesis of phosphatidylcholine and other phospholipids. Improper conversion of methionine can lead to atherosclerosis. Methionine, a chelating agent, is one of only two amino acids encoded by a single codon (AUG) in the standard genetic code (tryptophan, encoded by UGG, is the other). The codon AUG is also significant, in that it carries the Start message for a ribosome to begin protein translation from mRNA. As a consequence, methionine is incorporated into the N-terminal position of all proteins in eukaryotes and archaea during translation, although it is usually removed by post-translational modification. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Methionine (Wikipedia)

LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Phenylalanine (Wikipedia)

Observation Required in Panel

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Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Methionine/Phenylalanine
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Methionine/Phe DBS-sRto
Display Name: Methionine/Phenylalanine (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Methionine/Phenylalanine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Methionin/Phenylalanin:Stoffmengenverhältnis:Zeitpunkt:Blut.Tropfen:Quantitativ:
es-ES	Spanish (Spain)	Metionina/Fenilalanina:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Metionina / Fenilalanina:Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Méthionine/phénylalanine:Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Méthionine/Phénylalanine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Méthionine/Phénylalanine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Metionina/Fenilalanina:Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	methionine/fenylalanine:molaire verhouding:moment:gedroogde bloedspot:kwantitatief: Synonyms: phenylalanine
pt-BR	Portuguese (Brazil)	Metionina/Fenilalanina:SCrto:Pt:SgPapel:Qn: Synonyms: Met; Phe; PPA; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry; PKU
ru-RU	Russian (Russian Federation)	Метионин/Фенилаланин:МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Metiyonin/Fenilalanin:SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	蛋氨酸/苯丙氨酸:物质的量比率:时间点:全血.斑点:定量型: Synonyms: Met;甲硫基丁氨酸;甲硫氨酸 Phe Phe;PPA;苯基丙氨酸 PKU 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值苯丙酮尿苯丙酮尿症苯丙酮酸尿症血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

75215-4 Ornithine/Citrulline [Molar ratio] in DBS

Term Description

Ornithine/Citrulline is a marker for gyrate atrophy of the retina, ornithine transcarbamylase deficiency, carbamoyl-phosphate synthase deficiency, and hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, which are all conditions that some states include on their newborn screening panel.
Source: Regenstrief LOINC

Part Descriptions

LP15753-4 Ornithine
Ornithine is an amino acid that, under the action of the enzyme arginase on L-arginine, yields urea. Therefore, ornithine is a central part of the urea cycle, which eliminates excess nitrogen. Ornithine is not an amino acid coded by DNA, and in that sense, it is not involved in protein synthesis. In mammalian non-hepatic tissues, however, the urea cycle is mainly involved in arginine biosynthesis, making ornithine an important metabolic process. It is not directly a product of the the genetic code because polypeptides containing unprotected ornithines undergo spontaneous lactamization. This proved to be a problem when ornithine was originally classified among the other 20 naturally occuring amino acids. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Ornithine (Wikipedia)

LP15753-4 Ornithine
An amino acid produced in the urea cycle when the enzyme arginase cleaves off urea from arginine. Source: National Library of Medicine, MeSH 2006

LP70358-4 Citrulline
Citrulline is an alpha amino acid, produced from ornithine and carbamoyl phosphate during the urea cycle. Its name is derived from citrullus, the Latin word for watermelon, from which it was first isolated. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Citrulline (Wikipedia)

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Ornithine/Citrulline
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Ornithine/Cit DBS-sRto
Display Name: Ornithine/Citrulline (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Ornithine/Citrulline, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.48
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 19291

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Ornitina/Citrulina:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Ornitina / Citrulina:Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-CA	French (Canada)	Ornithine/Citrulline:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Ornithine/citrulline:Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Ornithine/Citrulline:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Ornitina/Citrullina:Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	ornithine/citrulline:molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Ornitina/Citrulina::Pt:SgPapel:Qn:
ru-RU	Russian (Russian Federation)	Орнитин/Цитруллин:МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Ornitin/Sitrüllin:SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	鸟氨酸/瓜氨酸:物质的量比率:时间点:全血.斑点:定量型: Synonyms: 2,5-二氨基戊酸;Orn Citr 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{ratio}	Example UCUM Units

29573-3 Phenylalanine [Moles/volume] in DBS

Part Descriptions

LP15792-2 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Phenylalanine (Wikipedia)

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Phenylalanine
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Phe DBS-sCnc
Display Name: Phenylalanine (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Phenylalanine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.03
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 4629

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)
79621-9	Phenylalanine and Tyrosine panel - DBS
94573-3	Tyrosinemia newborn screening follow-up and therapeutic monitoring panel - DBS

Member of these Groups Get Info

LOINC Group	Group Name
LG49958-8	Phenylalanine\|Pt\|Bld.dot\|165.19 g/mole

Language Variants Get Info

Tag	Language	Translation
de-AT	German (Austria)	Synonyms: Phenylalanin /TB
de-DE	German (Germany)	Phenylalanin:Stoffmengenkonzentration:Zeitpunkt:Blut.Tropfen:Quantitativ:
es-ES	Spanish (Spain)	Fenilalanina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Fenilalanina:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
es-AR	Spanish (Argentina)	fenilalanina:concentración de sustancia:punto en el tiempo:sangre.gota:cuantitativo:
et-EE	Estonian (Estonia)	Fenüülalaniin:SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Phénylalanine:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Phénylalanine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Phénylalanine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Fenilalanina:SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
ko-KR	Korean (Korea, Republic Of)	페닐알라닌:물질농도:검사시점:필터지혈액:정량:
nl-NL	Dutch (Netherlands)	fenylalanine:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pl-PL	Polish (Poland)	Fenyloalanina:stężenie molowe:punkt w czasie:sucha kropla krwi:ilościowy:
pt-BR	Portuguese (Brazil)	Fenilalanina:SCnc:Pt:SgPapel:Qn: Synonyms: ; Phe; PPA; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry; PKU
ru-RU	Russian (Russian Federation)	Фенилаланин:МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Fenilalanin:SubKons:Zmlı:Kan.nokta:Kant:
uk-UA	Ukrainian (Ukraine)	Фенілаланін:Молярна Концентрація:МоментЧасу:Суха пляма крові (фільтрувальний папір):Кількісно: Synonyms: Blood; Chemistry; DBS; Dried blood spot; Filter paper; FP; Level; Phe; PKU; Point in time; PPA; QNT; Quan; Quant; Quantitative; Random; Substance concentration; UniversalLabOrders; WB; Whole blood
zh-CN	Chinese (China)	苯丙氨酸:物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Phe;PPA;苯基丙氨酸 PKU 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间苯丙酮尿苯丙酮尿症苯丙酮酸尿症血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units
mmol/L	eCHN

35572-7 Phenylalanine/Tyrosine [Molar ratio] in DBS

Part Descriptions

LP15792-2 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Phenylalanine (Wikipedia)

LP32175-9 Tyrosine
Tyrosine (from the Greek tyros, meaning cheese, as it was first discovered in cheese[ citationneeded ]), 4-hydroxyphenylalanine, or 2-amino-3(4-hydroxyphenyl)-propanoic acid, is one of the 20 amino acids that are used by cells to synthesize proteins. It has a phenol side chain with a hydroxyl group. Upon the location of the hydroxyl group, there are three structural isomers of Tyr, namely para-Tyr (p-Tyr), meta-Tyr (m-Tyr) and ortho-Tyr (o-Tyr). Enzymatically, only the first isomer (p-Tyr) is produced from L-Phe by the Phe-hydroxylase enzyme. The other two isoforms, m-Tyr and o-Tyr can be produced as a consequence of free radical attack on Phe in states with increased oxidative stress. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Tyrosine (Wikipedia)

LP32175-9 Tyrosine
A non-essential amino acid. In animals it is synthesized from PHENYLALANINE. It is also the precursor of EPINEPHRINE; THYROID HORMONES; and melanin. Source: National Library of Medicine, MeSH 2006

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Phenylalanine/Tyrosine
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Phe/Tyr DBS-sRto
Display Name: Phenylalanine/Tyrosine (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Phenylalanine/Tyrosine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.13
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 3731

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Fenilalanina/Tirosina:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Fenilalanina / Tirosina:Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
es-AR	Spanish (Argentina)	fenilalanina/tirosina:relación de concentración de la sustancia:punto en el tiempo:sangre.gota:cuantitativo:
fr-FR	French (France)	Phénylalanine/tyrosine:Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Phénylalanine/Tyrosine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Phénylalanine/Tyrosine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Fenilalanina/Tirosina:Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
ko-KR	Korean (Korea, Republic Of)	페닐알라닌/티로신:물질구성비:검사시점:필터지혈액:정량:
nl-NL	Dutch (Netherlands)	fenylalanine/tyrosine:molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pl-PL	Polish (Poland)	Fenyloalanina/tyrozyna:współczynnik molowy:punkt w czasie:sucha kropla krwi:ilościowy:
pt-BR	Portuguese (Brazil)	Fenilalanina/Tirosina:SCrto:Pt:SgPapel:Qn: Synonyms: ; Phe; PPA; Tyr; Phe+Tyr; Phe/Tyr; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry; PKU
ru-RU	Russian (Russian Federation)	Фенилаланин/Тирозин:МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Fenilalanin/Tirozin:SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	苯丙氨酸/酪氨酸:物质的量比率:时间点:全血.斑点:定量型: Synonyms: 3-对羟苯基丙氨酸;Tyr Phe;PPA;苯基丙氨酸 Phe+Tyr;Phe+Tyrosine;苯丙氨酸与酪氨酸;苯基丙氨酸+酪氨酸;苯基丙氨酸与酪氨酸 PKU Tyr 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值苯丙酮尿苯丙酮尿症苯丙酮酸尿症血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

47732-3 Proline [Moles/volume] in DBS

Part Descriptions

LP15818-5 Proline
L-Proline is one of the twenty proteinogenic units used in the building blocks of proteins. The other nineteen units are all primary amino acids, but due to the cyclic binding of the three-carbon side chain to the nitrogen of the backbone, proline lacks a primary amine group (ˆ'NH2). The nitrogen in proline is referred to as a secondary amine. Proline is sometimes called an amino acid, although the IUPAC definition of an amine requires a carbon-nitrogen double bond. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Proline (Wikipedia)

LP15818-5 Proline
Proline is an amino acid that is the cyclized form of glutamic acid. The hydroxylation of proline increases the stability of collagen and is critical for maintaining connective tissue. Increased with iminoglycinuria,Type I and II hyperprolinemia, and lysinuric protein intolerance. Source: Regenstrief Institute

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Proline
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Proline DBS-sCnc
Display Name: Proline (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Proline, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.21
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 19909

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-AT	German (Austria)	Synonyms: Prolin /TB
es-ES	Spanish (Spain)	Prolina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Prolina:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Proliin:SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Proline:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Proline:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Proline:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Prolina:SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	proline:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Prolina:SCnc:Pt:SgPapel:Qn: Synonyms: Pro; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Пролин:МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Prolin:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	脯氨酸:物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Pro 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53392-7 Proline/Phenylalanine [Molar ratio] in DBS

Part Descriptions

LP15818-5 Proline
L-Proline is one of the twenty proteinogenic units used in the building blocks of proteins. The other nineteen units are all primary amino acids, but due to the cyclic binding of the three-carbon side chain to the nitrogen of the backbone, proline lacks a primary amine group (ˆ'NH2). The nitrogen in proline is referred to as a secondary amine. Proline is sometimes called an amino acid, although the IUPAC definition of an amine requires a carbon-nitrogen double bond. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Proline (Wikipedia)

LP15818-5 Proline
Proline is an amino acid that is the cyclized form of glutamic acid. The hydroxylation of proline increases the stability of collagen and is critical for maintaining connective tissue. Increased with iminoglycinuria,Type I and II hyperprolinemia, and lysinuric protein intolerance. Source: Regenstrief Institute

LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Phenylalanine (Wikipedia)

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Proline/Phenylalanine
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Proline/Phe DBS-sRto
Display Name: Proline/Phenylalanine (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Proline/Phenylalanine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.70
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Prolin/Phenylalanin:Stoffmengenverhältnis:Zeitpunkt:Blut.Tropfen:Quantitativ:
es-ES	Spanish (Spain)	Prolina/Fenilalanina:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Prolina / Fenilalanina:Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Proline/phénylalanine:Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Proline/Phénylalanine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Proline/Phénylalanine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Prolina/Fenilalanina:Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	proline/fenylalanine:molaire verhouding:moment:gedroogde bloedspot:kwantitatief: Synonyms: phenylalanine
pt-BR	Portuguese (Brazil)	Prolina/Fenilalanina:SCrto:Pt:SgPapel:Qn: Synonyms: Pro; Phe; PPA; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry; PKU
ru-RU	Russian (Russian Federation)	Пролин/Фенилаланин:МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Prolin/Fenilalanin:SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	脯氨酸/苯丙氨酸:物质的量比率:时间点:全血.斑点:定量型: Synonyms: Phe Phe;PPA;苯基丙氨酸 PKU Pro 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值苯丙酮尿苯丙酮尿症苯丙酮酸尿症血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

47742-2 Serine [Moles/volume] in DBS

Part Descriptions

LP15861-5 Serine
Serine, one of the 20 amino acids, is commonly found in animal proteins. Only the L-stereoisomer appears in nature. It is not essential to the human diet, because it can be synthesized from other metabolites, including glycine. Serine was first obtained from silk protein, a particularly rich source, in 1865. Its name is derived from the Latin for silk, sericum. Serine's structure was established in 1902. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Serine (Wikipedia)

LP15861-5 Serine
Serine is classified as an hydroxylic amino acid. Its levels in urine are elevated in hyperprolinemia, cystinosis, and Hartnup disease. Source: Regenstrief Institute

Observation Required in Panel

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Type of Entry

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Fully-Specified Name

Component: Serine
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Serine DBS-sCnc
Display Name: Serine (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Serine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.21
Last Updated: Version 2.70
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Serina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Serina:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Seriin:SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Sérine:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Sérine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Sérine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Serina:SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	serine:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Serina:SCnc:Pt:SgPapel:Qn: Synonyms: Ser; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Серин:МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Serin:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	丝氨酸:物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Ser 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53231-7 Succinylacetone [Moles/volume] in DBS

Part Descriptions

LP15872-2 Succinylacetone
Succinylacetone is a primary marker for Tyrosinemia type I. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Succinylacetone
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Succinylacetone DBS-sCnc
Display Name: Succinylacetone (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Succinylacetone, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 17177

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)
94573-3	Tyrosinemia newborn screening follow-up and therapeutic monitoring panel - DBS

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Succinilacetona:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Succinilacetona:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Suktsinüülatsetoon:SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Succinylacétone:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Succinylacétone:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Succinylacétone:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Succinilacetone:SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	succinylaceton:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Succinil acetona:SCnc:Pt:SgPapel:Qn: Synonyms: SUAC; SA; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Сукцинилацетон:МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Süksinilaseton:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	琥珀酰丙酮:物质的量浓度:时间点:全血.斑点:定量型: Synonyms: SA 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

47784-4 Threonine [Moles/volume] in DBS

Part Descriptions

LP15890-4 Threonine
Threonine, one of the 20 naturally occuring amino acids, is nutritionally essential in humans because they cannot synthesze it. Threonine contains two chiral centers, so there are four possible stereoisomers of threonine, or two possible diastereomers of L-threonine. However, the name L-threonine is used for one single enantiomer, (2 S ,3 R)-2-amino-3-hydroxybutanoic acid. The second diastereomer (2 S ,3 S), which is rarely present in nature, is called L-allo-threonine. The threonine side chain can undergo O-linked glycosylation. Threonine can become phosphorylated through the action of a threonine kinase. In its phosphorylated form, it is referred to as phosphothreonine. Foods high in threonine are cottage cheese, poultry, fish, meat, lentils, and sesame seeds. Threonine is a secondary marker for citrullinemia type II, an inherited disorder that causes ammonia and other toxic products to accumulate in the blood. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Threonine (Wikipedia)

LP15890-4 Threonine
An essential amino acid occurring naturally in the L-form, which is the active form. It is found in eggs, milk, gelatin, cottage cheese, poultry, fish, meat, lentils, sesame seeds and other proteins. Source: National Library of Medicine, MeSH 2006

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Threonine
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Threonine DBS-sCnc
Display Name: Threonine (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Threonine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.21
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Treonina:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
es-ES	Spanish (Spain)	Treonina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
et-EE	Estonian (Estonia)	Treoniin:SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Thréonine:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Thréonine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Thréonine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Treonina:SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	threonine:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Treonina:SCnc:Pt:SgPapel:Qn: Synonyms: Thr; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Треонин:МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Treonin:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	苏氨酸:物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Beta-羟丁氨酸;Thr;β-羟丁氨酸;羟基丁氨酸克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53159-0 Tryptophan [Moles/volume] in DBS

Part Descriptions

LP15931-6 Tryptophan
Tryptophan is an amino acid and essential in human nutrition. It is one of the 20 amino acids in the genetic code (codon UGG). Only the L-stereoisomer appears in mammalian protein, however the D-stereoisomer is occasionally found in natural materials (for example, the marine venom peptide contryphan). Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Tryptophan (Wikipedia)

LP15931-6 Tryptophan
An essential amino acid that is necessary for normal growth in infants and for NITROGEN balance in adults. It is a precursor of INDOLE ALKALOIDS in plants. It is a precursor of SEROTONIN (hence its use as an antidepressant and sleep aid). It can be a precursor to NIACIN, albeit inefficiently, in mammals. Source: National Library of Medicine, MeSH 2006

LP15931-6 Tryptophan
Tryptophoan (or L-tryptophan) is an amino acid, a protein building block that can be found in many plant and animal proteins. L-tryptophan is called an "essential" amino acid because the body can't make it. It must be acquired from food. L-tryptophan is used for insomnia, sleep apnea, depression, anxiety, facial pain, a severe form of premenstrual syndrome called premenstrual dysphoric disorder (PMDD), smoking cessation, grinding teeth during sleep (bruxism), attention deficit-hyperactivity disorder (ADHD), Tourette's syndrome, and to improve athletic performance. L-tryptophan is naturally found in animal and plant proteins. L-tryptophan is considered an essential amino acid because our bodies can't make it. It is important for the development and functioning of many organs in the body. After absorbing L-tryptophan from food, our bodies convert it to 5-HTP (5-hyrdoxytryptophan), and then to serotonin. Serotonin is a hormone that transmits signals between nerve cells. It also causes blood vessels to narrow. Changes in the level of serotonin in the brain can alter mood. Source: Medline Plus, MedlinePlus: L-tryptophan

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Tryptophan
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Tryptophan DBS-sCnc
Display Name: Tryptophan (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Tryptophan, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Triptófano:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Triptófano:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Trüptopfaan:SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Tryptophane:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Tryptophane:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Tryptophane:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Triptofano:SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	tryptofaan:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Triptofano:SCnc:Pt:SgPapel:Qn: Synonyms: c244; Trp; L-tryptophan; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Триптофан:МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Triptofan:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	色氨酸:物质的量浓度:时间点:全血.斑点:定量型: Synonyms: B 吲哚基丙氨酸;Beta 吲哚基丙氨酸;L-色氨酸;Trp;β吲哚基丙氨酸克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

35571-9 Tyrosine [Moles/volume] in DBS

Part Descriptions

LP15793-0 Tyrosine
Tyrosine is an aromatic amino acid and its urine levels rise in tyrosinemia, TNT (Transient Neonatal Tyrosinemia), cystinosis, hartnup disease, methionine malabsorption, and alkaptonuria. Source: Regenstrief Institute

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Tyrosine
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Tyrosine DBS-sCnc
Display Name: Tyrosine (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Tyrosine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.13
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 4630

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)
79621-9	Phenylalanine and Tyrosine panel - DBS
94573-3	Tyrosinemia newborn screening follow-up and therapeutic monitoring panel - DBS

Member of these Groups Get Info

LOINC Group	Group Name
LG49975-2	Tyrosine\|Pt\|Bld.dot\|181.191 g/mole

Language Variants Get Info

Tag	Language	Translation
de-AT	German (Austria)	Synonyms: Tyrosin im Vollblut
de-DE	German (Germany)	Tyrosin:Stoffmengenkonzentration:Zeitpunkt:Blut.Tropfen:Quantitativ:
es-ES	Spanish (Spain)	Tirosina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Tirosina:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
es-AR	Spanish (Argentina)	cristales de tirosina:concentración de sustancia:punto en el tiempo:sangre.gota:cuantitativo:
et-EE	Estonian (Estonia)	Türosiin:SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Tyrosine:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Tyrosine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Tyrosine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Tirosina:SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
ko-KR	Korean (Korea, Republic Of)	티로신:물질농도:검사시점:필터지혈액:정량:
nl-NL	Dutch (Netherlands)	tyrosine:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Tirosina:SCnc:Pt:SgPapel:Qn: Synonyms: Tyr; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Тирозин:МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Tirozin:SubKons:Zmlı:Kan.nokta:Kant:
uk-UA	Ukrainian (Ukraine)	Тирозин:Молярна Концентрація:МоментЧасу:Суха пляма крові (фільтрувальний папір):Кількісно: Synonyms: Blood; Chemistry; DBS; Dried blood spot; Filter paper; FP; Level; Point in time; QNT; Quan; Quant; Quantitative; Random; Substance concentration; Tyr; UniversalLabOrders; WB; Whole blood
zh-CN	Chinese (China)	酪氨酸:物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 3-对羟苯基丙氨酸;Tyr 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units
mcmol/L	REGENSTRIEF

47799-2 Valine [Moles/volume] in DBS

Part Descriptions

LP15946-4 Valine
Valine, one of the 20 proteinogenic amino acids, is nutritionally essential. It is named after the plant valerian. Foods that are good sources of valine include cottage cheese, fish, poultry, peanuts, sesame seeds, and lentils. In sickle cell disease, the replacement of an A by T in the beta chain gene of hemoglobin changes the codon GAG (for glutamic acid) to GTG (which encodes valine). Thus valine, a hydrophic amnio acid, replaces glutamic acid, a hydrophilic amino acid, causing hemoglobin to not fold correctly. It is also a precursor in the penicillin biosynthetic pathway. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Valine (Wikipedia)

LP15946-4 Valine
A branched-chain essential amino acid that stimulates activity and promotes muscle growth and tissue repair. It is a precursor in the penicillin biosynthetic pathway. Source: National Library of Medicine, MeSH 2006

LP15946-4 Valine
Valine is a branched-chain amino acid that stimulates activity and promotes muscle growth and tissue repair. It is elevated in branched-chain ketoaciduria (maple syrup urine disease), along with leucine, isoleucine, and alloisoleucine. Source: Regenstrief Institute

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Valine
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Valine DBS-sCnc
Display Name: Valine (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Valine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.21
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 16392

Member of these Panels

LOINC	Long Common Name
94571-7	Branched chain amino acid panel - DBS
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-AT	German (Austria)	Synonyms: Valin /TB
es-ES	Spanish (Spain)	Valina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Valina:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Valiin:SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Valine:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Valine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Valine:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Valina:SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	valine:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Valina:SCnc:Pt:SgPapel:Qn: Synonyms: Val; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Валин:МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Valin:SubKons:Zmlı:Kan.nokta:Kant:
uk-UA	Ukrainian (Ukraine)	Валін:Молярна Концентрація:МоментЧасу:Суха пляма крові (фільтрувальний папір):Кількісно: Synonyms: Blood; Chemistry; DBS; Dried blood spot; Filter paper; FP; Level; Point in time; QNT; Quan; Quant; Quantitative; Random; Substance concentration; Val; WB; Whole blood
zh-CN	Chinese (China)	缬氨酸:物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Alpha-氨基异戊酸;Val;α-氨基异戊酸克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53151-7 Valine/Phenylalanine [Molar ratio] in DBS

Term Description

Valine/Phenylalanine is a primary marker for Maple syrup urine disease and Valinemia.
Source: Regenstrief LOINC

Part Descriptions

LP15946-4 Valine
Valine, one of the 20 proteinogenic amino acids, is nutritionally essential. It is named after the plant valerian. Foods that are good sources of valine include cottage cheese, fish, poultry, peanuts, sesame seeds, and lentils. In sickle cell disease, the replacement of an A by T in the beta chain gene of hemoglobin changes the codon GAG (for glutamic acid) to GTG (which encodes valine). Thus valine, a hydrophic amnio acid, replaces glutamic acid, a hydrophilic amino acid, causing hemoglobin to not fold correctly. It is also a precursor in the penicillin biosynthetic pathway. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Valine (Wikipedia)

LP15946-4 Valine
A branched-chain essential amino acid that stimulates activity and promotes muscle growth and tissue repair. It is a precursor in the penicillin biosynthetic pathway. Source: National Library of Medicine, MeSH 2006

LP15946-4 Valine
Valine is a branched-chain amino acid that stimulates activity and promotes muscle growth and tissue repair. It is elevated in branched-chain ketoaciduria (maple syrup urine disease), along with leucine, isoleucine, and alloisoleucine. Source: Regenstrief Institute

LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Phenylalanine (Wikipedia)

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Valine/Phenylalanine
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Valine/Phe DBS-sRto
Display Name: Valine/Phenylalanine (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Valine/Phenylalanine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 18115

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Valin/Phenylalanin:Stoffmengenverhältnis:Zeitpunkt:Blut.Tropfen:Quantitativ:
es-ES	Spanish (Spain)	Valina/Fenilalanina:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Valina / Fenilalanina:Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Valine/phénylalanine:Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Valine/Phénylalanine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Valine/Phénylalanine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Valina/Fenilalanina:Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	valine/fenylalanine:molaire verhouding:moment:gedroogde bloedspot:kwantitatief: Synonyms: phenylalanine
pt-BR	Portuguese (Brazil)	Valina/Fenilalanina:SCrto:Pt:SgPapel:Qn: Synonyms: Val; Phe; PPA; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry; PKU
ru-RU	Russian (Russian Federation)	Валин/Фенилаланин:МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Valin/Fenilalanin:SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	缬氨酸/苯丙氨酸:物质的量比率:时间点:全血.斑点:定量型: Synonyms: Alpha-氨基异戊酸;Val;α-氨基异戊酸 Phe Phe;PPA;苯基丙氨酸 PKU 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值苯丙酮尿苯丙酮尿症苯丙酮酸尿症血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

58092-8 Acylcarnitine newborn screen panel

Term Description

Newborn screening dried blood spot analysis by tandem mass spectrometry (MS/MS) requires pre-processing the specimen with one of two alternative reagent methods referred to as derivatized and non-derivatized (or underivatized) methods. The methods are similar and nearly all analytes and ratios are identical with the limited number of exceptions noted in the description of the LOINC codes. Some labs choose to use the non-derivatized method because it may be faster or less expensive for their operations. There are no analytes which would be interpreted differently based on the method used to process the specimen so there is no need for different LOINC codes for the same compounds based on the reagents. In a few cases, a different LOINC code is used for the derivatized or non-derivatized tandem mass spectrometry (MS/MS) method because based on the reagents used in processing, different analytes are measured or different sets of analytes become isobaric, which means that they cannot be distinguished on the MS/MS because they have the same molecular weight after reagent processing.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Acylcarnitine newborn screen panel
Property: -
Time: Pt
System: Bld.dot
Scale: -
Method

Additional Names

Short Name: Acylcarnitine NBS pnl DBS
Display Name: Acylcarnitine NBS panel (DBS)
Consumer Name Alpha Get Info: Acylcarnitine NBS Panel, Dried blood spot

Basic Attributes

Class: PANEL.CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.77
Order vs. Observation: Order
Common Test Rank Get Info: 16130
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Panel de cribado neonatal de acilcarnitina:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX	Spanish (Mexico)	Panel de pantalla para recién nacidos de acilcarnitina:-:Punto temporal:DBS:-:
et-EE	Estonian (Estonia)	Atsüülkarnitiini sõeluuring vastsündinul:-:Pt:Vereplekk:-: Synonyms: Juhuslik Veri
fr-FR	French (France)	Acylcarnitine dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
fr-BE	French (Belgium)	Panel screening néonatal acylcarnitine:-:Temps ponctuel:Sang sur papier filtre:-:
it-IT	Italian (Italy)	Acilcarnitina, panel screening neonatale:-:Pt:Sangue.su carta da filtro:-: Synonyms: Chimica Panel screening neonatale acilcarnitina Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL	Dutch (Netherlands)	acylcarnitine pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
pt-BR	Portuguese (Brazil)	Acilcarnitina triagem neonatal painel:#N/A:Pt:SgPapel:-: Synonyms: ; Acylcarnitine NBS pnl; Acylcarni; Acyl carnitine; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Scr; Scn; Scrn; Pnl; Pan; Panl; New born; PANEL.CHEMISTRY; PANEL.CHEMISTRY; Chemistry
ru-RU	Russian (Russian Federation)	Ацилкарнитин новорождённый скрин панель:-:ТчкВрм:Кр.Сух.капл:-: Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN	Chinese (China)	酰基肉碱新生儿筛查组套:-:时间点:全血.斑点:-: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类时刻;随机;随意;瞬间检验医嘱组合类检验项目医嘱组合类检验项目组合类筛查筛查试验筛选试验组组合组合医嘱组合类组套血;血液过筛过筛试验酰基肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）;酰基肉毒碱酰基肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）新生儿筛查组套;酰基肉碱新生儿筛查组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;酰基肉毒碱新生儿筛查医嘱组

58088-6 Acylcarnitine newborn screen interpretation

Term Description

Acylcarnitine concentration measured in blood dot (Filter Paper) as part of newborn screen. It detects Fatty Acid Oxidation and Organic Acidemia Disorders.
Source: Regenstrief Institute

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Acylcarnitine
Property: Imp
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: Acylcarnitine DBS-Imp
Display Name: Acylcarnitine Nar (DBS) [Interp]
Consumer Name Alpha Get Info: Interpretation of Acylcarnitine test result, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation
Common Test Rank Get Info: 17693

Preferred Answer List LL840-0

Answer	Code	Score	Answer ID
In range			LA18592-8
Borderline			LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)			LA11884-6
Out of range			LA18593-6
Out of range requiring further dried blood spot testing for at least one condition			LA12430-7
Out of range requiring immediate referral			LA25817-0
Out of range requiring immediate second-tier testing for at least one condition			LA12431-5
Out of range requiring deferred follow-up for at least one condition			LA18594-4
One or more tests pending			LA16204-2
Specimen unsatisfactory for at least one condition			LA16205-9

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Acilcarnitina:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX	Spanish (Mexico)	Acilcarnitina:Impresión / interpretación del estudio:Punto temporal:DBS:Narrativo:
fr-CA	French (Canada)	Acylcarnitine:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Narratif:
fr-FR	French (France)	Acylcarnitine:Interprétation:Ponctuel:Sang buvard:Résultat textuel:
fr-BE	French (Belgium)	Acylcarnitine:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT	Italian (Italy)	Acilcarnitina:Imp:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	acylcarnitine:interpretatie:moment:gedroogde bloedspot:tekstueel:
pt-BR	Portuguese (Brazil)	Acilcarnitina:#N/A:Pt:SgPapel:Nar: Synonyms: Acylcarni; Acyl carnitine; Interpretation; Interp; Impression; Impressions; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Narrative; Report; Chemistry
ru-RU	Russian (Russian Federation)	Ацилкарнитин:Впчт:ТчкВрм:Кр.Сух.капл:Опис: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Описательный Точка во времени;Момент
tr-TR	Turkish (Turkey)	Açilkarnitin:İzlnm:Zmlı:Kan.nokta:Öykü:
zh-CN	Chinese (China)	酰基肉碱:印象:时间点:全血.斑点:叙述型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型时刻;随机;随意;瞬间血;血液酰基肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）;酰基肉毒碱

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This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

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Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

58093-6 Acylcarnitine newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Acylcarnitine newborn screening comment-discussion
Property: Txt
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: Acylcarnitine NBS comment
Display Name: Acylcarnitine newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info: Acylcarnitine newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 18419

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Acilcarnitina screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX	Spanish (Mexico)	Comentario-discusión sobre el cribado neonatal de acilcarnitina:Texto:Punto temporal:DBS:Narrativo:
fr-FR	French (France)	Acylcarnitine dépistage néonatal (commentaire/discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE	French (Belgium)	Acylcarnitine Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT	Italian (Italy)	Acilcarnitina , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica Commento/discussione di screening neonatale acilcarnitina Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL	Dutch (Netherlands)	acylcarnitine screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
pt-BR	Portuguese (Brazil)	Acilcarnitina triagem neonatal comentários-discussão:#N/A:Pt:SgPapel:Nar: Synonyms: Remarks; Acylcarnitine NBS comment/discussion; Acylcarni; Acyl carnitine; Text; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Narrative; Report; SCN; Asymptomatic; Asympt; New born; Com; Comm; Commt; Comments; cmnt; cmmt; Chemistry
ru-RU	Russian (Russian Federation)	Ацилкарнитин новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR	Turkish (Turkey)	Açilkarnitin yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN	Chinese (China)	酰基肉碱新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型: Synonyms: Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型备注备注;评论;注解;说明;评语意见文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验注解短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验血;血液解说解释评定评注评论评语说明酰基肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）;酰基肉毒碱酰基肉碱新生儿筛查备注-讨论

57084-6 Fatty acid oxidation newborn screen panel

Term Description

Newborn screening dried blood spot analysis by tandem mass spectrometry (MS/MS) requires pre-processing the specimen with one of two alternative reagent methods referred to as derivatized and non-derivatized (or underivatized) methods. The methods are similar and nearly all analytes and ratios are identical with the limited number of exceptions noted in the description of the LOINC codes. Some labs choose to use the non-derivatized method because it may be faster or less expensive for their operations. There are no analytes which would be interpreted differently based on the method used to process the specimen so there is no need for different LOINC codes for the same compounds based on the reagents. In a few cases, a different LOINC code is used for the derivatized or non-derivatized tandem mass spectrometry (MS/MS) method because based on the reagents used in processing, different analytes are measured or different sets of analytes become isobaric, which means that they cannot be distinguished on the MS/MS because they have the same molecular weight after reagent processing.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Fatty acid oxidation newborn screen panel
Property: -
Time: Pt
System: Bld.dot
Scale: -
Method

Additional Names

Short Name: FA oxidation NB scn pnl DBS
Display Name: Fatty acid oxidation NBS panel (DBS)
Consumer Name Alpha Get Info: Fatty Acid Oxidation NBS Panel, Dried blood spot

Basic Attributes

Class: PANEL.CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.77
Order vs. Observation: Order
Common Test Rank Get Info: 17172
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Panel de cribado de la oxidación de ácidos grasos en el recién nacido:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX	Spanish (Mexico)	Panel de pantalla recién nacido de oxidación de ácidos grasos:-:Punto temporal:DBS:-:
et-EE	Estonian (Estonia)	Rasvhapete oksüdatsioonidefektis sõeluuring vastsündinul:-:Pt:Vereplekk:-: Synonyms: Juhuslik Veri
fr-FR	French (France)	Oxydation des acides gras dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
fr-BE	French (Belgium)	Panel screening nouveau-né oxidation des acides gras:-:Temps ponctuel:Sang sur papier filtre:-:
it-IT	Italian (Italy)	Acidi grassi, panel di screening neonatale per ossidazione:-:Pt:Sangue.su carta da filtro:-: Synonyms: Chimica Ossidazione degli acidi grassi Panel screening neonatale per ossidazione degli ac Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL	Dutch (Netherlands)	vetzuuroxidatie pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
pl-PL	Polish (Poland)	Panel przesiewowy noworodka utleniania kwasów tłuszczowych:-:punkt w czasie:sucha kropla krwi:-:
pt-BR	Portuguese (Brazil)	Oxidação de ácidos graxos painel da tela de recém-nascido:#N/A:Pt:SgPapel:-: Synonyms: ; FA oxidation NB scn pnl; FAO; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Scr; Scn; Scrn; Pnl; Pan; Panl; New born; Acd; Acids; PANEL.CHEMISTRY; PANEL.CHEMISTRY; Chemistry
ru-RU	Russian (Russian Federation)	Жирные кислоты окисление новорождённый скрин панель:-:ТчкВрм:Кр.Сух.капл:-: Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN	Chinese (China)	脂肪酸氧化新生儿筛查组套:-:时间点:全血.斑点:-: Synonyms: FAO 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类时刻;随机;随意;瞬间检验医嘱组合类检验项目医嘱组合类检验项目组合类筛查筛查试验筛选试验组组合组合医嘱组合类组套脂肪酸氧化新生儿筛查组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;脂肪酸氧化功能新生儿筛查医嘱组;脂肪酸氧化新生儿筛查组套;脂肪酸氧化新生儿筛查组合血;血液过筛过筛试验酸

46736-5 Fatty acid oxidation defects newborn screen interpretation

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Fatty acid oxidation defects
Property: Imp
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: FOD DBS-Imp
Display Name: Fatty acid oxidation defects (DBS) [Interp]
Consumer Name Alpha Get Info: Fatty acid oxidation defects, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.19
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation
Common Test Rank Get Info: 1323

Preferred Answer List LL840-0

Answer	Code	Score	Answer ID
In range			LA18592-8
Borderline			LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)			LA11884-6
Out of range			LA18593-6
Out of range requiring further dried blood spot testing for at least one condition			LA12430-7
Out of range requiring immediate referral			LA25817-0
Out of range requiring immediate second-tier testing for at least one condition			LA12431-5
Out of range requiring deferred follow-up for at least one condition			LA18594-4
One or more tests pending			LA16204-2
Specimen unsatisfactory for at least one condition			LA16205-9

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Defectos de la oxidación de ácidos grasos:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Defectos de oxidación de ácidos grasos:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Oxydation des acides gras déficit:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE	French (Belgium)	Défauts de l'oxydation des acides gras:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-CA	French (Canada)	Défauts de l'oxydation des acides gras:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Acidi grassi, difetti di ossidazione:Imp:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Difetti di ossidazione degli acidi grassi Impressione/interpretazione di studio Ossidazione degli acidi grassi Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	vetzuuroxidatiedefecten:interpretatie:moment:gedroogde bloedspot:nominaal:
pt-BR	Portuguese (Brazil)	Defeitos de oxidação de ácidos graxos:Imp:Pt:SgPapel:Nom: Synonyms: ; FOD; FAODS; FA Oxidation; FAO; Interpretation; Interp; Impression; Impressions; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; Acd; Acids; Chemistry
ru-RU	Russian (Russian Federation)	Жирных кислот окисления дефекты:Впчт:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Yağ asidi oksidasyonu kusurları:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	脂肪酸氧化过程缺陷:印象:时间点:全血.斑点:名义型: Synonyms: FAO FAODS;FOD;脂肪酸氧化作用缺陷;脂肪酸氧化作用缺陷类;脂肪酸氧化功能缺陷;脂肪酸氧化功能缺陷类;脂肪酸氧化缺陷;脂肪酸氧化缺陷类;脂肪酸氧化过程缺陷（Fatty Acid Oxidation Defects，FAODS）;脂肪酸氧化过程缺陷类全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释时刻;随机;随意;瞬间血;血液酸

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

57792-4 Fatty acid oxidation conditions suspected [Identifier] in DBS

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Fatty acid oxidation conditions suspected
Property: Prid
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: FA oxidation conditions suspected DBS
Display Name: Fatty acid oxidation conditions suspected Nom (DBS)
Consumer Name Alpha Get Info: Fatty acid oxidation conditions suspected, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.61
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation

Preferred Answer List LL838-4

Answer	Code	Answer ID
None Copyright http://snomed.info/sct ID:260413007 None (qualifier value)		LA137-2
Carnitine palmitoyltransferase type I deficiency Copyright http://snomed.info/sct ID:238001003 Carnitine palmitoyltransferase I deficiency (disorder)		LA12485-1
Carnitine uptake deficiency/carnitine transport defect Copyright http://snomed.info/sct ID:21764004 Renal carnitine transport defect (disorder)		LA12487-7
CPT-II or CACT		LA12573-4
LCHAD or TFP		LA12574-2
Medium-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder)		LA12509-8
MCAD or SCAD or GA-2(MADD)		LA12575-9
SCAD or EMA or IBG or GA-2 (MADD)		LA12576-7
Very long-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237997005 Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder)		LA12531-2
2,4-Dienoyl-CoA reductase deficiency Copyright http://snomed.info/sct ID:444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder)		LA12489-3
Carnitine acylcarnitine translocase deficiency Copyright http://snomed.info/sct ID:238003000 Carnitine acylcarnitine translocase deficiency (disorder)		LA12475-2
Carnitine palmitoyltransferase type II deficiency Copyright http://snomed.info/sct ID:238002005 Carnitine palmitoyltransferase II deficiency (disorder)		LA12486-9
Glutaric acidemia type II Copyright http://snomed.info/sct ID:22886006 Glutaric aciduria, type 2 (disorder)		LA12495-0
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:307127004 Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder)		LA12507-2
Carnitine uptake deficiency/carnitine transport defect (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder)		LA12488-5
Medium-chain ketoacyl-CoA thiolase deficiency Copyright http://snomed.info/sct ID:124265004 Deficiency of acetyl-coenzyme A acyltransferase (disorder)		LA12511-4
Short-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:124166007 Deficiency of butyryl-CoA dehydrogenase (disorder)	SCAD	LA12524-7
Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237998000 Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)		LA12525-4
Trifunctional protein deficiency Copyright http://snomed.info/sct ID:237999008 Mitochondrial trifunctional protein deficiency (disorder)		LA12527-0
CUD or CUD (mat) or CPT-Ia		LA12916-5
GA-1 or GA-2		LA12917-3
X-linked adrenoleukodystrophy Copyright http://snomed.info/sct ID:65389002 Adrenoleukodystrophy (disorder)		LA25796-6

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Condiciones de oxidación de ácidos grasos:Presencia o identidad:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Sospecha de condiciones de oxidación de ácidos grasos:Presencia o identidad:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Oxydation des acides gras conditions suspectées:Identification:Ponctuel:Sang buvard:Résultat nominal:
fr-BE	French (Belgium)	Conditions suspectes d'oxydation des acides gras:Présence ou identité:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Acidi grassi, condizioni sospette di ossidazione:Prid:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Condizioni sospette di ossidazione degli acidi gra Ossidazione degli acidi grassi Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	vetzuuroxidatie omstandigheden vermoed:identificator:moment:gedroogde bloedspot:nominaal:
pl-PL	Polish (Poland)	Badanie statusu utlenienie kwasów tłuszczowych:wykrycie lub identyfikacja:punkt w czasie:sucha kropla krwi:cecha:
pt-BR	Portuguese (Brazil)	Condições suspeitas de oxidação de ácidos graxos:Ident:Pt:SgPapel:Nom: Synonyms: ; FA oxidation conditions suspected; FAO; Identity or presence; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; Acd; Acids; Chemistry
ru-RU	Russian (Russian Federation)	Жирная кислота окисление состояние заподозрены:ПрИд:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Кровь Кровь сухая капля Номинальный;Именной Присутствие или Идентификация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Yağ asidi oksidasyonu koşulları şüphelenilen:MevcKimlik:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	疑似脂肪酸氧化障碍:存在与否或特征标识:时间点:全血.斑点:名义型: Synonyms: FAO 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类存在;存在与否;特征标识;身份;身份标识时刻;随机;随意;瞬间疑似脂肪酸氧化功能障碍;怀疑脂肪酸氧化障碍血;血液酸

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

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57709-8 Fatty acid oxidation defects newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Fatty acid oxidation defects newborn screening comment-discussion
Property: Txt
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: FOD NBS comment
Display Name: Fatty acid oxidation defects newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info: Fatty acid oxidation defects newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.42
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Defectos de la oxidación de ácidos grasos screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX	Spanish (Mexico)	Defectos de oxidación de ácidos grasos cribado neonatal comentario-discusión:Texto:Punto temporal:DBS:Narrativo:
fr-FR	French (France)	Oxydation des acides gras déficit dépistage néonatal:Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE	French (Belgium)	Défauts de l'oxydation des acides gras Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT	Italian (Italy)	Acidi grassi, difetti di ossidazione , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica Commento/discussione di screening neonatale per difetti di ossidazione degli acidi grassi Difetti di ossidazione degli acidi grassi Ossidazione degli acidi grassi Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL	Dutch (Netherlands)	vetzuuroxidatiedefecten screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
pl-PL	Polish (Poland)	Zaburzenia utleniania kwasów tłuszczowych komentarz-dyskusja nad badaniami przesiewowymi noworodka:tekst:punkt w czasie:sucha kropla krwi:opisowy:
pt-BR	Portuguese (Brazil)	Defeitos de oxidação de ácidos graxos na triagem neonatal comentários-discussão:#N/A:Pt:SgPapel:Nar: Synonyms: ; FA oxidation defects NBS comment/discussion; FOD; FAODS; FAO; Remarks; Text; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Narrative; Report; SCN; Asymptomatic; Asympt; New born; Com; Comm; Commt; Comments; cmnt; cmmt; Acd; Acids; Chemistry
ru-RU	Russian (Russian Federation)	Жирных кислот окисления дефекты новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR	Turkish (Turkey)	Yağ asidi oksidasyonu kusurları yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN	Chinese (China)	脂肪酸氧化过程缺陷新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型: Synonyms: Asympt FAO FAODS;FOD;脂肪酸氧化作用缺陷;脂肪酸氧化作用缺陷类;脂肪酸氧化功能缺陷;脂肪酸氧化功能缺陷类;脂肪酸氧化缺陷;脂肪酸氧化缺陷类;脂肪酸氧化过程缺陷（Fatty Acid Oxidation Defects，FAODS）;脂肪酸氧化过程缺陷类 SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型备注备注;评论;注解;说明;评语意见文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验注解短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验脂肪酸氧化缺陷新生儿筛查注释/讨论血;血液解说解释评定评注评论评语说明酸

38481-8 Carnitine free (C0) [Moles/volume] in DBS

Part Descriptions

LP18431-4 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Carnitine.free (C0)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Carnitine Free DBS-sCnc
Display Name: C0 (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C0, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.14
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 19326

Member of these Panels

LOINC	Long Common Name
79284-6	Carnitine biosynthesis intermediates panel - DBS
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Carnitina libre:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Carnitina libre (C0):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
es-AR	Spanish (Argentina)	carnitina.libre:concentración de sustancia:punto en el tiempo:sangre.gota:cuantitativo:
et-EE	Estonian (Estonia)	Karnitiin.vaba (C0):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Carnitine libre (C0):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Carnitine.libre (C0):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Carnitine.libre (C0):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Carnitina.libera (C0):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Carnitina libera (C0) Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
ko-KR	Korean (Korea, Republic Of)	유리카르니틴:물질농도:검사시점:필터지혈액:정량:
nl-NL	Dutch (Netherlands)	carnitine.vrij (C0):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Carnitina.livre (C0):SCnc:Pt:SgPapel:Qn: Synonyms: Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; FR; Non-protein bound; Chemistry
ru-RU	Russian (Russian Federation)	Карнитин.свободный(С0):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Karnitin.serb (C0):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	肉碱.游离型 (C0):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间游离肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）.游离型 (C0);肉毒碱.游离型 (C0);三甲基羟基丁酰甜菜碱.游离型 (C0);游离三甲基羟基丁酰甜菜碱 (C0);游离型三甲基羟基丁酰甜菜碱 (C0);游离型肉毒碱 (C0);游离型肉碱 (C0);游离肉毒碱 (C0);游离肉碱 (C0);肉碱.游离型 (C0) 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）;三甲基羟基丁酰甜菜碱;卡尼丁;总肉毒碱;总肉碱;肉毒碱;肉毒碱.总;肉毒碱.总计;肉碱.总;肉碱.总计血;血液非蛋白结合型非蛋白质结合型

Example Units

Unit	Source
umol/L	Example UCUM Units
mcmol/L	REGENSTRIEF

53233-3 Carnitine free (C0)/Palmitoylcarnitine (C16) [Molar ratio] in DBS

Term Description

Carnitine.free/Palmitoylcarnitine is a secondary marker for Carnitine acylcarnitine translocase deficiency.
Source: Regenstrief LOINC

Part Descriptions

LP18431-4 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I. Source: Regenstrief LOINC

LP70162-0 Palmitoylcarnitine (C16)
Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Carnitine uptake defect. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Carnitine.free (C0)/Palmitoylcarnitine (C16)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Carnitine Free/C16 DBS-sRto
Display Name: C0/Palmitoylcarnitine (C16) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C0/Palmitoylcarnitine (C16), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.61
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Carnitina libre/Palmitoilcarnitina (C16):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Carnitine.libre (C0) / Palmitoylcarnitine (C16):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Carnitine libre (C0)/palmitoylcarnitine (C16):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Carnitine.libre (C0)/Palmitoylcarnitine (C16):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Carnitine.libre (C0)/Palmitoylcarnitine (C16):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Carnitina.libera (C0)/Palmitoilcarnitina (C16):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	carnitine.vrij (C0)/palmitoylcarnitine (C16):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Carnitina.livre (C0)/Palmitoilcarnitina (C16):SCrto:Pt:SgPapel:Qn: Synonyms: ; Palmitoylcarn; Hexadecanoylcarnitine; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; FR; Non-protein bound; Chemistry
ru-RU	Russian (Russian Federation)	Карнитин.свободный(С0)/Пальмитоилкарнитин (C16):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Karnitin.serb (C0)/Palmitoilkarnitin (C16):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	肉碱.游离型 (C0)/棕榈酰肉碱 (C16):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间棕榈酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C16);C16 棕榈酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C16);C16;十六烷酰肉碱;十六醛肉碱;棕榈酰肉碱, C16;棕榈醛肉碱游离物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）.游离型 (C0);肉毒碱.游离型 (C0);三甲基羟基丁酰甜菜碱.游离型 (C0);游离三甲基羟基丁酰甜菜碱 (C0);游离型三甲基羟基丁酰甜菜碱 (C0);游离型肉毒碱 (C0);游离型肉碱 (C0);游离肉毒碱 (C0);游离肉碱 (C0);肉碱.游离型 (C0) 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）;三甲基羟基丁酰甜菜碱;卡尼丁;总肉毒碱;总肉碱;肉毒碱;肉毒碱.总;肉毒碱.总计;肉碱.总;肉碱.总计血;血液非蛋白结合型非蛋白质结合型

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53234-1 Carnitine free (C0)/Stearoylcarnitine (C18) [Molar ratio] in DBS

Term Description

Carnitine.free/Stearoylcarnitine is a secondary marker for Carnitine acylcarnitine translocase deficiency.
Source: Regenstrief LOINC

Part Descriptions

LP18431-4 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I. Source: Regenstrief LOINC

LP70197-6 Stearoylcarnitine (C18)
Stearoylcarnitine is a primary marker for Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, and Carnitine uptake defect. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Carnitine.free (C0)/Stearoylcarnitine (C18)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Carnitine Free/C18 DBS-sRto
Display Name: C0/Stearoylcarnitine (C18) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C0/Stearoylcarnitine (C18), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.61
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Carnitina libre/Estearoilcarnitina (C18):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Carnitine.libre (C0) / Estearoilcarnitina (C18):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Carnitine libre (C0)/stéaroylcarnitine(C18):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Carnitine.libre (C0)/Stéaroylcarnitine (C18):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Carnitine.libre (C0)/Stéaroylcarnitine (C18):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Carnitina.libera (C0)/Stearoilcarnitina (C18):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	carnitine.vrij (C0)/stearoylcarnitine (C18):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Carnitina.livre (C0)/Estearoilcarnitina (C18):SCrto:Pt:SgPapel:Qn: Synonyms: ; Stearoylcarn; Steroylcarnitine; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; FR; Non-protein bound; Chemistry
ru-RU	Russian (Russian Federation)	Карнитин.свободный(С0)/Стеароилкарнитин (C18):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Karnitin.serb (C0)/Stearoilkarnitin (C18):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	肉碱.游离型 (C0)/硬脂酰肉碱 (C18):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间游离物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值硬脂酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C18);C18 硬脂酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C18);C18;十八烷酰基肉碱;十八烷酰肉碱;十八烷酰肉碱, C18;硬脂酰基肉碱;硬脂酰肉碱, C18 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）.游离型 (C0);肉毒碱.游离型 (C0);三甲基羟基丁酰甜菜碱.游离型 (C0);游离三甲基羟基丁酰甜菜碱 (C0);游离型三甲基羟基丁酰甜菜碱 (C0);游离型肉毒碱 (C0);游离型肉碱 (C0);游离肉毒碱 (C0);游离肉碱 (C0);肉碱.游离型 (C0) 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）;三甲基羟基丁酰甜菜碱;卡尼丁;总肉毒碱;总肉碱;肉毒碱;肉毒碱.总;肉毒碱.总计;肉碱.总;肉碱.总计血;血液非蛋白结合型非蛋白质结合型

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53235-8 Carnitine free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18) [Molar ratio] in DBS

Term Description

Carnitine.free/Palmityolcarnitine+Stearoylcarnitine is a primary marker for Carnitine palmitoyltransferase I deficiency. Secondary marker for Carnitine acylcarnitine translocase deficiency and Carnitine palmitoyltransferase II deficiency.
Source: Regenstrief LOINC

Part Descriptions

LP18431-4 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Carnitine Free/C16+C18 DBS-sRto
Display Name: C0/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C0/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 19307

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Carnitina libre/Palmitoilcarnitina (C16)+Estearoilcarnitina (C18):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Carnitina libre (C0) / Palmitoilcarnitina (C16) + Estearoilcarnitina (C18):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Carnitine libre (C0)/palmitoylcarnitine (C16)+stéaroylcarnitine(C18):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Carnitine.libre (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Carnitine.libre (C0)/Palmitoylcarnitine (C16)+Stéaroylcarnitine (C18):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Carnitina.libera (C0)/Palmitoilcarnitina (C16)+Stearoilcarnitina (C18):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	carnitine.vrij (C0)/palmitoylcarnitine (C16) + stearoylcarnitine (C18):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Carnitina.livre (C0)/Palmitoilcarnitina (C16)+Estearoilcarnitina (C18):SCrto:Pt:SgPapel:Qn: Synonyms: ; Stearoylcarn; Steroylcarnitine; Palmitoyl+Stearoylcarn; Palmitoylcarn; Hexadecanoylcarnitine; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; FR; Non-protein bound; Chemistry
ru-RU	Russian (Russian Federation)	Карнитин.свободный(С0)/Пальмитоилкарнитин (C16)+Стеароилкарнитин (C18):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Karnitin.serb (C0)/Palmitoilkarnitin (C16)+Stearoilkarnitin (C18):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	肉碱.游离型 (C0)/棕榈酰肉碱 (C16)+硬脂酰肉碱 (C18):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间棕榈酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C16);C16;十六烷酰肉碱;十六醛肉碱;棕榈酰肉碱, C16;棕榈醛肉碱棕榈酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C16)+硬脂酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C18) 游离物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值硬脂酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C18);C18;十八烷酰基肉碱;十八烷酰肉碱;十八烷酰肉碱, C18;硬脂酰基肉碱;硬脂酰肉碱, C18 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）.游离型 (C0);肉毒碱.游离型 (C0);三甲基羟基丁酰甜菜碱.游离型 (C0);游离三甲基羟基丁酰甜菜碱 (C0);游离型三甲基羟基丁酰甜菜碱 (C0);游离型肉毒碱 (C0);游离型肉碱 (C0);游离肉毒碱 (C0);游离肉碱 (C0);肉碱.游离型 (C0) 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）;三甲基羟基丁酰甜菜碱;卡尼丁;总肉毒碱;总肉碱;肉毒碱;肉毒碱.总;肉毒碱.总计;肉碱.总;肉碱.总计血;血液非蛋白结合型非蛋白质结合型

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53236-6 Carnitine.free (C0)+Acetylcarnitine (C2)+Propionylcarnitine (C3)+Palmitoylcarnitine (C16)+Oleoylcarnitine (C18:1)+Stearoylcarnitine (C18)/Citrulline [Molar ratio] in DBS

Term Description

Carnitine.free+Acetylcarnitine+Propionylcarnitine+Palmitoylcarnitine+Oleoylcarnitine+Stearoylcarnitine/Citrulline is a primary marker for Carnitine uptake defect, Maternal carnitine uptake defect. Secondary marker for Maternal glutaric acidemia type I and Maternal 3-Methylcrotonyl-CoA carboxylase deficiency.
Source: Regenstrief LOINC

Part Descriptions

LP70358-4 Citrulline
Citrulline is an alpha amino acid, produced from ornithine and carbamoyl phosphate during the urea cycle. Its name is derived from citrullus, the Latin word for watermelon, from which it was first isolated. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Citrulline (Wikipedia)

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Carnitine.free (C0)+Acetylcarnitine (C2)+Propionylcarnitine (C3)+Palmitoylcarnitine (C16)+Oleoylcarnitine (C18:1)+Stearoylcarnitine (C18)/Citrulline
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: C0+C2+C3+C16+C18/Cit DBS-sRto
Display Name: C0+C2+C3+C16+C18:1+C18/Citrulline (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C0+C2+C3+C16+C18:1+C18/Citrulline, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Carnitina.libre (C0)+Acetilcarnitina (C2)+Propionilcarnitina (C3)+Palmitoilcarnitina (C16)+Oleoilcarnitina (C18:1)+Estearoilcarnitina (C18)/Citrulina:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Carnitina libre (C0) + Acetilcarnitina (C2) + Propionilcarnitina (C3) + Palmitoilcarnitina (C16) + Oleoilcarnitina (C18:1) + Estearoilcarnitina (C18) / Citrulina:Proporción de sustancia:Punto temporal:DBS:Cuantitativo
fr-FR	French (France)	Carnitine libre(C0)+acétylcarnitine(C2)+propionylcarnitine(C3)+palmitoylcarnitine(C16)+oléoylcarnitine(C18:1)+stéaroylcarnitine(C18)/citrulline:Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Carnitine.free (C0)+Acetylcarnitine (C2)+Propionylcarnitine (C3)+Palmitoylcarnitine (C16)+Oleoylcarnitine (C18:1)+Stearoylcarnitine (C18)/Citrulline:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Carnitine.libre (C0)+Acylcarnitine (C2)+Propionylcarnitine (C3)+Palmitoylcarnitine (C16)+Oléoylcarnitine (C18:1)+Stéaroylcarnitine (C18)/Citrulline:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Carnitina.libera (C0)+Acetilcarnitina (C2)+Propionilcarnitina (C3)+Palmitoilcarnitina (C16)+Oleoilcarnitina (C18: 1)+Stearoilcarnitina (C18)/Citrullina:Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	carnitine.vrij (C0) + acetylcarnitine (C2) + propionylcarnitine (C3) + palmitoylcarnitine (C16) + oleoylcarnitine (C18:1) + stearoylcarnitine (C18)/citrulline:molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Carnitina.livre (C0)+Acetilcarnitina (C2)+Propionilcarnitina (C3)+Palmitoilcarnitina (C16)+Oleoilcarnitina (C18:1)+Estearoilcarnitina (C18)/Citrulina:SCrto:Pt:SgPapel:Qn: Synonyms: ; C0+C2+C3+C16+C18; Stearoylcarn; Steroylcarnitine; Propionylcarn; Propanoylcarnitine; C3-carntitine; Palmitoylcarn; Hexadecanoylcarnitine; Oleoylcarn; Octadecenoylcarnitine; Octadecenoyl carnitine; Oleoyl carnitine; Oleyl carnitine; Oleylcarnitine; Cit; Citr; C0+C2+C3+C16+C18; Acetylcarn; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; FR; Non-protein bound; I; Chemistry
ru-RU	Russian (Russian Federation)	Карнитин.свободный (C0)+Ацетилкарнитин (C2)+Пропионилкарнитин (C3)+Пальмитоилкарнитин (C16)+Олеоилкарнитин (C18:1)+Стеароилкарнитин (C18)/Цитруллин:МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Karnitin.serb (C0)+Asetilkarnitin (C2)+Propiyonilkarnitin (C3)+Palmitoilkarnitin (C16)+Oleoilkarnitin (C18:1)+Stearoilkarnitin (C18)/Sitrüllin:SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	肉碱.游离型 (C0)+酰基肉碱 (C2)+丙酰肉碱 (C3)+棕榈酰肉碱 (C16)+油酰肉碱 (C18:1)+硬脂酰肉碱 (C18)/瓜氨酸:物质的量比率:时间点:全血.斑点:定量型: Synonyms: Ⅰ Citr I 丙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3);C3;C3-肉碱;丙酰基肉碱;丙酰肉碱, C3 丙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3)+棕榈酰肉碱 (C16);丙酰基肉碱 (C3)+棕榈酰基肉碱 (C16) 乙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C2);C2;乙酰肉毒碱;乙酰肉毒碱, C2;乙酰肉碱, C2 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间棕榈酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C16);C16;十六烷酰肉碱;十六醛肉碱;棕榈酰肉碱, C16;棕榈醛肉碱棕榈酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C16)+油酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C18:1) 油酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C18:1);C18:1;油酰基肉碱;油酰肉碱, C18:1 游离物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值硬脂酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C18);C18;十八烷酰基肉碱;十八烷酰肉碱;十八烷酰肉碱, C18;硬脂酰基肉碱;硬脂酰肉碱, C18 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）.游离型 (C0);肉毒碱.游离型 (C0);三甲基羟基丁酰甜菜碱.游离型 (C0);游离三甲基羟基丁酰甜菜碱 (C0);游离型三甲基羟基丁酰甜菜碱 (C0);游离型肉毒碱 (C0);游离型肉碱 (C0);游离肉毒碱 (C0);游离肉碱 (C0);肉碱.游离型 (C0) 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）.游离型 (C0)+酰基肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C2)+丙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3)+棕榈酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C16)+油酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C18:1)+硬脂酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C18) 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）;三甲基羟基丁酰甜菜碱;卡尼丁;总肉毒碱;总肉碱;肉毒碱;肉毒碱.总;肉毒碱.总计;肉碱.总;肉碱.总计血;血液非蛋白结合型非蛋白质结合型

Example Units

Unit	Source
{Ratio}	Example UCUM Units

75211-3 Propionylcarnitine (C3)+Palmitoylcarnitine (C16) [Moles/volume] in DBS

Part Descriptions

LP183637-0 Propionylcarnitine (C3)+Palmitoylcarnitine (C16)
C3 (Propionylcarnitine)+C16 (Palmitoylcarnitine) is a marker for carnitine uptake defect, which is one of the core conditions on the HHS Secretary's Recommended Uniform Screening Panel for newborn screening. Source: Newborn screening workgroup

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Propionylcarnitine (C3)+Palmitoylcarnitine (C16)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: C3+C16 DBS-sCnc
Display Name: C3+C16 (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C3+C16, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.48
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Propionilcarnitina (C3)+Palmitoilcarnitina (C16):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Propionilcarnitina (C3) + Palmitoilcarnitina (C16):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Propionylcarnitine (C3)+palmitoylcarnitine (C16):Moles/Volume:Ponctuel:Sang buvard:Numérique:
it-IT	Italian (Italy)	Propionilcarnitina (C3)+Palmitoilcarnitina (C16):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	propionylcarnitine (C3) + palmitoylcarnitine (C16):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Propionilcarnitina (C3)+Palmitoilcarnitina (C16)::Pt:SgPapel:Qn:
ru-RU	Russian (Russian Federation)	Пропионилкарнитин (C3)+Пальмитоилкарнитин (C16):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Propionilcarnitine (C3)+Palmitoilcarnitine (C16):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	丙酰肉碱 (C3)+棕榈酰肉碱 (C16):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 丙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3);C3;C3-肉碱;丙酰基肉碱;丙酰肉碱, C3 丙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3)+棕榈酰肉碱 (C16);丙酰基肉碱 (C3)+棕榈酰基肉碱 (C16) 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间棕榈酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C16);C16;十六烷酰肉碱;十六醛肉碱;棕榈酰肉碱, C16;棕榈醛肉碱血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

75212-1 Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS

Term Description

C3DC (Malonylcarnitine)/C10 (Decanoylcarnitine) is a marker for malonic acidemia (also known as malonic aciduria), which is one of the secondary conditions on the HHS Secretary's Recommended Uniform Screening Panel for newborn screening.
Source: Regenstrief LOINC

Part Descriptions

LP70167-9 Decanoylcarnitine (C10)
Decanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency and Glutaric acidemia type II. Secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency. Source: Regenstrief LOINC

LP70363-4 Malonylcarnitine (C3-DC)
Malonylcarnitine is a metabolite that accumulates with specific disruption of fatty-acid oxidation caused by impaired entry of long-chain acylcarnitine esters into the mitochondria and failure of the mitochondrial respiratory chain at complex 11 and malonyl-CoA decarboxylase (EC 4.1.1.9) deficiency [OMIM: 248360]. Malonylcarnitine has also been found to accumulate in some newborns with medium-chain acyl-CoA dehydrogenase (EC 1.3.99.3) deficiency [OMIM: 201450], PMID: 11558490, PMID: 15303003, PMID: 12651823. Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.) Source: Human Metabolome Database, Malonylcarnitine

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Malonylcarn/C10 DBS-sRto
Display Name: C3-DC/Decanoylcarnitine (C10) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C3-DC/Decanoylcarnitine (C10), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.48
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 18573

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Malonilcarnitina (C3-DC) / Decanoilcarnitina (C10):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-CA	French (Canada)	Malonylcarnitine (C3-DC)/Décanoylcarnitine (C10):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Malonylcarnitine (C3-DC)/décanoylcarnitine (C10):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Malonylcarnitine (C3-DC)/Décanoylcarnitine (C10):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	malonylcarnitine (C3-DC)/decanoylcarnitine (C10):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10)::Pt:SgPapel:Qn:
ru-RU	Russian (Russian Federation)	Малонилкарнитин (C3-DC)/Деканоилкарнитин (C10):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Malonilkarnitin (C3-DC)/Dekanoilkarnitin (C10):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	丙二酰肉碱 (C3-DC)/癸酰肉碱 (C10):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 丙二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3-DC);C3DC;C3-DC;C3-DCC;丙二酸单酰肉碱;丙二酰基肉碱;丙二酰基酰基肉碱;丙二酸单酰基肉碱;丙二酸单酰肉碱, C3-DC;酰基肉碱丙二酸单酰基;丙二酸单酰肉碱;丙二酰肉碱全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值癸酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10);C10 癸酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10);C10;癸酰基肉碱;癸酰肉碱, C10 血;血液

Example Units

Unit	Source
{ratio}	Example UCUM Units

54462-7 Malonylcarnitine (C3-DC) [Moles/volume] in DBS

Part Descriptions

LP70363-4 Malonylcarnitine (C3-DC)
Malonylcarnitine is a metabolite that accumulates with specific disruption of fatty-acid oxidation caused by impaired entry of long-chain acylcarnitine esters into the mitochondria and failure of the mitochondrial respiratory chain at complex 11 and malonyl-CoA decarboxylase (EC 4.1.1.9) deficiency [OMIM: 248360]. Malonylcarnitine has also been found to accumulate in some newborns with medium-chain acyl-CoA dehydrogenase (EC 1.3.99.3) deficiency [OMIM: 201450], PMID: 11558490, PMID: 15303003, PMID: 12651823. Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.) Source: Human Metabolome Database, Malonylcarnitine

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Malonylcarnitine (C3-DC)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Malonylcarn DBS-sCnc
Display Name: C3-DC (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C3-DC, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.27
Last Updated: Version 2.70
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Malonilcarnitina (C3-DC):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Malonilcarnitina (C3-DC):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Malonüülkarnitiin (C3-DC):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-CA	French (Canada)	Malonylcarnitine (C3-DC):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Malonylcarnitine (C3-DC):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Malonylcarnitine (C3-DC):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Malonilcarnitina (C3-DC):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	malonylcarnitine (C3-DC):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Malonilcarnitina (C3-DC):#N/A:Pt:SgPapel:Qn: Synonyms: ; Malonylcarn; C3DC; Dicarboxylic carnitine; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Малонилкарнитин (C3-DC):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Malonilkarnitin (C3-DC):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	丙二酰肉碱 (C3-DC):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 丙二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3-DC);C3DC;C3-DC;C3-DCC;丙二酸单酰肉碱;丙二酰基肉碱;丙二酰基酰基肉碱;丙二酸单酰基肉碱;丙二酸单酰肉碱, C3-DC;酰基肉碱丙二酸单酰基;丙二酸单酰肉碱;丙二酰肉碱克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

75213-9 Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)/Decanoylcarnitine (C10) [Molar ratio] in DBS

Term Description

C3DC (Malonylcarnitine)+C4OH (3-Hydroxybutyrylcarnitine)/C10 (Decanoylcarnitine) is a marker for malonic acidemia (also known as malonic aciduria), which is one of the secondary conditions on the HHS Secretary's Recommended Uniform Screening Panel for newborn screening.
Source: Regenstrief LOINC

Part Descriptions

LP70167-9 Decanoylcarnitine (C10)
Decanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency and Glutaric acidemia type II. Secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)/Decanoylcarnitine (C10)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Malonyl+3OHbutyrylcarn/C10 DBS-sRto
Display Name: C3-DC+C4-OH/Decanoylcarnitine (C10) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C3-DC+C4-OH/Decanoylcarnitine (C10), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.48
Last Updated: Version 2.61
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Malonilcarnitina (C3-DC)+3-hidroxibutirilcarnitina (C4-OH)/Decanoilcarnitina (C10):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Malonilcarnitina (C3-DC) + 3-Hidroxibutirilcarnitina (C4-OH) / Decanoilcarnitina (C10):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-CA	French (Canada)	Malonylcarnitine (C3-DC)+3-hydroxybutyrylcarnitine (C4-OH)/Décanoylcarnitine (C10):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Malonylcarnitine (C3-DC)+3-hydroxybutyrylcarnitine (C4-OH)/décanoylcarnitine (C10):Moles ratio:Ponctuel:Sang buvard:Numérique:
it-IT	Italian (Italy)	Malonilcarnitina (C3-DC)+3-Idrossibutirilcarnitina (C4-OH)/Decanoilcarnitina (C10):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	malonylcarnitine (C3-DC) + 3-hydroxybutyrylcarnitine (C4-OH)/decanoylcarnitine (C10):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Malonilcarnitina (C3-DC)+3-Hidroxibutirilcarnitina (C4-OH)/Decanoilcarnitina (C10)::Pt:SgPapel:Qn:
ru-RU	Russian (Russian Federation)	Малонилкарнитин (C3-DC)+3-Гидроксибутирилкарнитин (C4-OH)/Деканоилкарнитин (C10):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Malonilkarnitin (C3-DC)+3-Hidroksibütirilkarnitin (C4-OH)/Dekanoilkarnitin (C10):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	丙二酰肉碱 (C3-DC)+3-羟基异丁酰肉碱 (C4-OH)/癸酰肉碱 (C10):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 3-羟基丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C4-OH);3OH-丁酰肉碱;3-羟丁酰肉碱;3-羟-丁酰肉碱;3-羟基丁酰基肉碱;3-羟基-丁酰肉碱;3-羟基丁酰肉碱, C4-OH;C4OH;C4-OH Ⅲ III 三丙二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3-DC);C3DC;C3-DC;C3-DCC;丙二酸单酰肉碱;丙二酰基肉碱;丙二酰基酰基肉碱;丙二酸单酰基肉碱;丙二酸单酰肉碱, C3-DC;酰基肉碱丙二酸单酰基;丙二酸单酰肉碱;丙二酰肉碱丙二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3-DC)+3-羟基异丁酰肉碱 (C4-OH);丙二酰基肉碱 (C3-DC)+3-羟基异丁酰基肉碱 (C4-OH) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值癸酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10);C10 癸酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10);C10;癸酰基肉碱;癸酰肉碱, C10 血;血液

Example Units

Unit	Source
{ratio}	Example UCUM Units

50157-7 Acetylcarnitine (C2) [Moles/volume] in DBS

Part Descriptions

LP19301-8 Acetylcarnitine (C2)
An acetic acid ester of CARNITINE that facilitates movement of ACETYL COA into the matrices of mammalian MITOCHONDRIA during the oxidation of FATTY ACIDS. Source: National Library of Medicine, MeSH 2006

LP19301-8 Acetylcarnitine (C2)
Acetylcarnitine is a primary marker for Carnitine uptake defect. Secondary marker for Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency, Maternal carnitine uptake defect, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, Formiminoglutamic acidemia, and Succinyl-CoA ligase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Acetylcarnitine (C2)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Acetylcarn DBS-sCnc
Display Name: C2 (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C2, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.22
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 17972

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Acetilcarnitina (C2):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Acetilcarnitina (C2):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Atsetüülkarnitiin (C2):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Acétylcarnitine (C2):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Acétylcarnitine (C2):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Acétylcarnitine (C2):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Acetilcarnitina (C2):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	acetylcarnitine (C2):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Acetilcarnitina (C2):SCnc:Pt:SgPapel:Qn: Synonyms: ; Acetylcarn; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Ацетилкарнитин (C2):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Asetilkarnitin (C2):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	乙酰肉碱 (C2):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 乙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C2);C2;乙酰肉毒碱;乙酰肉毒碱, C2;乙酰肉碱, C2 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53166-5 Butyrylcarnitine+Isobutyrylcarnitine (C4) [Moles/volume] in DBS

Part Descriptions

LP66333-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)
Butyrylcarnitine+Isobutyrylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy. Source: Regenstrief LOINC

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Fully-Specified Name

Component: Butyrylcarnitine+Isobutyrylcarnitine (C4)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Butyryl+Isobutyrylcarn DBS-sCnc
Display Name: Butyrylcarnitine+Isobutyrylcarnitine (C4) (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Butyrylcarnitine+Isobutyrylcarnitine (C4), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 17344

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Butirilcarnitina+Isobutirilcarnitina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Butirilcarnitina + Isobutirilcarnitina (C4):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Butürüülkarnitiin + isobutürüülkarnitiin (C4):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Butyrylcarnitine+isobutyrylcarnitine (C4):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Butyrylcarnitine+Isobutyrylcarnitine (C4):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Butyrylcarnitine+Isobutyrylcarnitine (C4):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Butirrilcarnitina+Isobutirrilcarnitina (C4):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	butyrylcarnitine + isobutyrylcarnitine (C4):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Butirilcarnitina+Isobutirilcarnitina (C4):SCnc:Pt:SgPapel:Qn: Synonyms: ; Isobutyrylcarn; Butyryl+Isobutyrylcarn; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Бутирилкарнитин+Изобутирилкарнитин (C4):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Bütirilkarnitin+izobütirilkarnitin (C4):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	丁酰肉碱+异丁酰肉碱 (C4):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）+异丁酰肉碱 (C4);丁酰基肉毒碱+异丁酰基肉毒碱 (C4);丁酰基肉碱+异丁酰基肉碱 (C4);丁酰肉毒碱+异丁酰肉毒碱 (C4) 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺异丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C4);C4;异丁酰基肉碱;异丁酰肉碱, C4 时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53167-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2) [Molar ratio] in DBS

Term Description

Butyrylcarnitine+Isobutyrylcarnitine/Acetylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC

Part Descriptions

LP66333-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)
Butyrylcarnitine+Isobutyrylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy. Source: Regenstrief LOINC

LP70165-3 Acetylcarnitine (C2)
Acetyl-L-carnitine or ALCAR, is an acetylated form of L-carnitine. ALCAR has been claimed to be superior to normal L-carnitine in terms of bioavailability. However, at least one study has suggested that the acetylated form may have a lower oral bioavailability. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Acetylcarnitine

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Fully-Specified Name

Component: Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Butyryl+Isobutyrylcarn/C2 DBS-sRto
Display Name: Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.61
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Butirilcarnitina+Isobutirilcarnitina/Acetilcarnitina (C2):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Butirilcarnitina + Isobutirilcarnitina (C4) / Acetilcarnitina (C2):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Butyrylcarnitine+isobutyrylcarnitine (C4)/acétylcarnitine (C2):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acétylcarnitine (C2):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acétylcarnitine (C2):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Butirrilcarnitina+Isobutirrilcarnitina (C4)/Acetilcarnitina (C2):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	butyrylcarnitine + isobutyrylcarnitine (C4)/acetylcarnitine (C2):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Butirilcarnitina+Isobutirilcarnitina (C4)/Acetilcarnitina (C2):SCrto:Pt:SgPapel:Qn: Synonyms: ; Butyryl+Isobutyrylcarn; Isobutyrylcarn; Butyryl+Isobutyrylcarn; Acetylcarn; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Бутирилкарнитин+Изобутирилкарнитин (C4)/Ацетилкарнитин (C2):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Bütirilkarnitin+izobütirilkarnitin (C4)/Asetilkarnitin (C2):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	丁酰肉碱+异丁酰肉碱 (C4)/乙酰肉碱 (C2):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）+异丁酰肉碱 (C4);丁酰基肉毒碱+异丁酰基肉毒碱 (C4);丁酰基肉碱+异丁酰基肉碱 (C4);丁酰肉毒碱+异丁酰肉毒碱 (C4) 乙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C2);C2 乙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C2);C2;乙酰肉毒碱;乙酰肉毒碱, C2;乙酰肉碱, C2 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺异丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C4);C4;异丁酰基肉碱;异丁酰肉碱, C4 时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53168-1 Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3) [Molar ratio] in DBS

Term Description

Butyrylcarnitine+Isobutyrylcarnitine/Propionylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC

Part Descriptions

LP66333-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)
Butyrylcarnitine+Isobutyrylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy. Source: Regenstrief LOINC

LP70306-3 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

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Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Butyryl+Isobutyrylcarn/C3 DBS-sRto
Display Name: Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.61
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Butirilcarnitina+Isobutirilcarnitina/Propionilcarnitina (C39:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Butirilcarnitina + Isobutirilcarnitina (C4) / Propionilcarnitina (C3):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Butyrylcarnitine+isobutyrylcarnitine (C4)/propionycarnitine (C3):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Butirrilcarnitina+Isobutirrilcarnitina (C4)/Propionilcarnitina (C3):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	butyrylcarnitine + isobutyrylcarnitine (C4)/propionylcarnitine (C3):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Butirilcarnitina+Isobutirilcarnitina (C4)/Propionilcarnitina (C3):SCrto:Pt:SgPapel:Qn: Synonyms: ; Butyryl+Isobutyrylcarn; Propionylcarn; Propanoylcarnitine; C3-carntitine; Isobutyrylcarn; Butyryl+Isobutyrylcarn; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Бутирилкарнитин+Изобутирилкарнитин (C4)/Пропионилкарнитин (C3):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Bütirilkarnitin+izobütirilkarnitin (C4)/Propiyonilkarnitin (C3):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	丁酰肉碱+异丁酰肉碱 (C4)/丙酰肉碱 (C3):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）+异丁酰肉碱 (C4);丁酰基肉毒碱+异丁酰基肉毒碱 (C4);丁酰基肉碱+异丁酰基肉碱 (C4);丁酰肉毒碱+异丁酰肉毒碱 (C4) 丙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3);C3;C3-肉碱;丙酰基肉碱;丙酰肉碱, C3 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺异丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C4);C4;异丁酰基肉碱;异丁酰肉碱, C4 时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53169-9 Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8) [Molar ratio] in DBS

Term Description

Butyrylcarnitine+Isobutyrylcarnitine/Octanoylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Isobutyrylglycinuria and Ethylmalonic encephalopathy.
Source: Regenstrief LOINC

Part Descriptions

LP66333-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)
Butyrylcarnitine+Isobutyrylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy. Source: Regenstrief LOINC

LP70166-1 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Butyryl+Isobutyrylcarn/C8 DBS-sRto
Display Name: Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.61
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Butirilcarnitina+Isobutirilcarnitina/Octanoilcarnitina (C8):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Butirilcarnitina + Isobutirilcarnitina (C4) / Octanoilcarnitina (C8):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Butyrylcarnitine+isobutyrylcarnitine (C4)/octanoylcarnitine (C8):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Butirrilcarnitina+Isobutirrilcarnitina (C4)/Octanoilcarnitina (C8):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	butyrylcarnitine + isobutyrylcarnitine (C4)/octanoylcarnitine (C8):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Butirilcarnitina+Isobutirilcarnitina (C4)/Octanoilcarnitina (C8):SCrto:Pt:SgPapel:Qn: Synonyms: ; Butyryl+Isobutyrylcarn; Octanoylcarn; Isobutyrylcarn; Butyryl+Isobutyrylcarn; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Бутирилкарнитин+Изобутирилкарнитин (C4)/Октаноилкарнитин (C8):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Bütirilkarnitin+izobütirilkarnitin (C4)/Oktanoilkarnitin (C8):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	丁酰肉碱+异丁酰肉碱 (C4)/辛酰肉碱 (C8):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）+异丁酰肉碱 (C4);丁酰基肉毒碱+异丁酰基肉毒碱 (C4);丁酰基肉碱+异丁酰基肉碱 (C4);丁酰肉毒碱+异丁酰肉毒碱 (C4) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺异丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C4);C4;异丁酰基肉碱;异丁酰肉碱, C4 时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液辛酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C8);C8 辛酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C8);C8;辛酰基肉碱;辛酰肉碱, C8

Example Units

Unit	Source
{Ratio}	Example UCUM Units

50102-3 3-Hydroxybutyrylcarnitine (C4-OH) [Moles/volume] in DBS

Part Descriptions

LP19307-5 3-Hydroxybutyrylcarnitine (C4-OH)
3-Hydroxybutyrylcarnitine is a primary marker for Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: 3-Hydroxybutyrylcarnitine (C4-OH)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 3OH-Butyrcarn DBS-sCnc
Display Name: C4-OH (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C4-OH, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.22
Last Updated: Version 2.70
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	3-Hidroxibutirilcarnitina (C4-OH):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	3-hidroxibutirilcarnitina (C4-OH):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	3-hüdroksübutürüülkarnitiin (C4-OH):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	3-hydroxybutyrylcarnitine (C4-OH):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	3-hydroxybutyrylcarnitine (C4-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	3-hydroxybutyrylcarnitine (C4-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	3-Idrossibutirrilcarnitina (C4-OH):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	3-hydroxybutyrylcarnitine (C4-OH):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	3-Hidroxibutirilcarnitina (C4-OH):SCnc:Pt:SgPapel:Qn: Synonyms: ; 3OH-Butyrcarn; C4OH; 3-hydroxy-butylcarnitine; 3-hydroxybutylcarnitine; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	3-Гидроксибутирилкарнитин (C4-OH):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	3-Hidroksibütirilkarnitin (C4-OH):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	3-羟基丁酰肉碱 (C4-OH):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 3-羟基丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C4-OH);3OH-丁酰肉碱;3-羟丁酰肉碱;3-羟-丁酰肉碱;3-羟基丁酰基肉碱;3-羟基-丁酰肉碱;3-羟基丁酰肉碱, C4-OH;C4OH;C4-OH Ⅲ III 三克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

45211-0 Hexanoylcarnitine (C6) [Moles/volume] in DBS

Part Descriptions

LP19308-3 Hexanoylcarnitine (C6)
Hexanoylcarnitine is a secondary marker for Medium-chain acyl-CoA dehydrogenase deficiency, and Glutaric acidemia type II. Source: Regenstrief Institute

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Hexanoylcarnitine (C6)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Hexanoylcarn DBS-sCnc
Display Name: C6 (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C6, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.17
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 16684

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Hexanoilcarnitina (C6):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Hexanoilcarnitina (C6):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Heksanoüülkarnitiin (C6):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Hexanoylcarnitine (C6):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Hexanoylcarnitine (C6):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Hexanoylcarnitine (C6):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Esanoilcarnitina (C6):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	hexanoylcarnitine (C6):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Hexanoilcarnitina (C6):SCnc:Pt:SgPapel:Qn: Synonyms: ; Hexanoylcarn; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Гексаноилкарнитин (C6):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Hekzanoilkarnitin (C6):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	己酰肉碱 (C6):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺己酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C6);C6;己酰基肉碱;己酰肉碱, C6 时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53173-1 3-Hydroxyhexanoylcarnitine (C6-OH) [Moles/volume] in DBS

Part Descriptions

LP28987-3 3-Hydroxyhexanoylcarnitine (C6-OH)
3-Hydroxyhexanoylcarnitine is a primary marker for Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency and Medium-chain ketoacyl-CoA thiolase deficiency. Secondary marker for Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency, Medium-chain ketoacyl-CoA thiolase deficiency Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: 3-Hydroxyhexanoylcarnitine (C6-OH)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 3OH-Hexanoylcarn DBS-sCnc
Display Name: C6-OH (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C6-OH, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.70
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	3-hidroxihexanoilcarnitina (C6-OH):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	3-hidroxihexanoilcarnitina (C6-OH):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	3-hüdroksüheksanoüülkarnitiin (C6-OH):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	3-hydroxyhexanoylcarnitine (C6-OH):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	3-hydroxyhexanoylcarnitine (C6:OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	3-hydroxyhexanoylcarnitine (C6:OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	3-Idrossiesanoilcarnitina (C6-OH):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	3-hydroxyhexanoylcarnitine (C6-OH):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	3-Hidroxihexanoilcarnitina (C6-OH):SCnc:Pt:SgPapel:Qn: Synonyms: ; 3OH-Hexanoylcarn; C6OH; 3-hydroxy-hexanoylcarnitine; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	3-Гидроксигексаноилкарнитин (C6-OH):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	3-Hidroksihekzanoylkarnitin (C6-OH):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	3-羟基己酰肉碱 (C6-OH):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 3-羟基己酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C6-OH);3OH-己酰肉碱;3-羟基己酰基肉碱;3-羟基-己酰基肉碱;3-羟基-己酰肉碱;3-羟基-己酰肉碱, C6-OH;3-羟基己酰肉碱, C6-OH;C6OH;C6-OH Ⅲ III 三克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

45207-8 Glutarylcarnitine (C5-DC) [Moles/volume] in DBS

Part Descriptions

LP19314-1 Glutarylcarnitine (C5-DC)
Glutaric aciduria type I (GA I) is an autosomal-recessive deficiency of glutaryl-CoA-dehydrogenase and leads to encephalopathic crises resulting in neurological damage. A screening parameter is glutarylcarnitine (C5DC) with carnitine ratios. C5DC was shown to be significantly associated with renal manifestations. Creatinine correlates significantly with C5DC and all C5DC/acylcarnitine ratios. PMID: 20033292 Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Glutarylcarnitine (C5-DC)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Glutarylcarn DBS-sCnc
Display Name: C5-DC (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C5-DC, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.17
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 17229

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Glutarilcarnitina (C5-DC):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Glutarilcarnitina (C5-DC):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Glutarüülkarnitiin (C5-DC):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Glutarylcarnitine (C5-DC):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Glutarylcarnitine (C5-DC):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Glutarylcarnitine (C5-DC):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Glutarilcarnitina (C5-DC):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	glutarylcarnitine (C5-DC):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Glutarilcarnitina (C5-DC):SCnc:Pt:SgPapel:Qn: Synonyms: ; Glutarylcarn; Dicarboxylic carnitine; C5DC; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Глутарилкарнитин (C5-DC):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Glutarilkarnitin (C5-DC):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	戊二酰肉碱 (C5-DC):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC);C5DC;C5-DC;戊二酰基肉碱;戊二酰肉碱, C5DC;戊二酸单酰基肉碱;戊二酸单酰肉碱;戊二酸单酰肉碱, C5DC 时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53174-9 Octenoylcarnitine (C8:1) [Moles/volume] in DBS

Part Descriptions

LP19312-5 Octenoylcarnitine (C8:1)
Octenoylcarnitine is a secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Octenoylcarnitine (C8:1)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Octenoylcarn DBS-sCnc
Display Name: C8:1 (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C8:1, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 17563

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Octenoilcarnitina (C8:1):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Octenoilcarnitina (C8:1):Concentración de sustancias:Punto temporal:DBS:Cuantitativo
et-EE	Estonian (Estonia)	Oktenoüülkarnitiin (C8:1):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Octènoylcarnitine (C8:1):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Octenoylcarnitine (C8:1):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Octenoylcarnitine (C8:1):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Octenoilcarnitina (C8:1):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	octenoylcarnitine (C8:1):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Octenoilcarnitina (C8:1):SCnc:Pt:SgPapel:Qn: Synonyms: ; Octenoylcarn; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; I; Chemistry
ru-RU	Russian (Russian Federation)	Октеноилкарнитин (C8:1):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Oktenoilkarnitin (C8:1):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	辛烯酰肉碱 (C8:1):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Ⅰ I 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液辛烯酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C8:1);C8:1;辛烯酰基肉碱;辛烯酰肉碱, C8:1

Example Units

Unit	Source
umol/L	Example UCUM Units

53175-6 Octanoylcarnitine (C8) [Moles/volume] in DBS

Part Descriptions

LP19313-3 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Octanoylcarnitine (C8)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Octanoylcarn DBS-sCnc
Display Name: C8 (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C8, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 17769

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Octanoilcarnitina (C8):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Octanoilcarnitina (C8):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Oktanoüülkarnitiin (C8):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Octanoylcarnitine (C8):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Octanoylcarnitine (C8):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Octanoylcarnitine (C8):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Octanoilcarnitina (C8):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	octanoylcarnitine (C8):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Octanoilcarnitina (C8):SCnc:Pt:SgPapel:Qn: Synonyms: ; Octanoylcarn; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Октаноилкарнитин (C8):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Oktanoilkarnitin (C8):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	辛酰肉碱 (C8):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液辛酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C8);C8;辛酰基肉碱;辛酰肉碱, C8

Example Units

Unit	Source
umol/L	Example UCUM Units

53176-4 Octanoylcarnitine (C8)/Acetylcarnitine (C2) [Molar ratio] in DBS

Term Description

Octanoylcarnitine/Acetylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC

Part Descriptions

LP19313-3 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency. Source: Regenstrief LOINC

LP70165-3 Acetylcarnitine (C2)
Acetyl-L-carnitine or ALCAR, is an acetylated form of L-carnitine. ALCAR has been claimed to be superior to normal L-carnitine in terms of bioavailability. However, at least one study has suggested that the acetylated form may have a lower oral bioavailability. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Acetylcarnitine

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Octanoylcarnitine (C8)/Acetylcarnitine (C2)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Octanoylcarn/C2 DBS-sRto
Display Name: C8/Acetylcarnitine (C2) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C8/Acetylcarnitine (C2), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Octanoilcarnitina (C8)/Acetilcarnitina (C2):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Octanoilcarnitina (C8) / Acetilcarnitina (C2):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Octanoylcarnitine (C8)/acétylcarnitine (C2):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Octanoylcarnitine (C8)/Acétylcarnitine (C2):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Octanoylcarnitine (C8)/Acétylcarnitine (C2):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Octanoilcarnitina (C8)/Acetilcarnitina (C2):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	octanoylcarnitine (C8)/acetylcarnitine (C2):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Octanoilcarnitina (C8)/Acetilcarnitina (C2):SCrto:Pt:SgPapel:Qn: Synonyms: ; Octanoylcarn; Acetylcarn; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Октаноилкарнитин (C8)/Ацетилкарнитин (C2):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Oktanoilkarnitin (C8)/Asetilkarnitin (C2):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	辛酰肉碱 (C8)/乙酰肉碱 (C2):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 乙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C2);C2 乙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C2);C2;乙酰肉毒碱;乙酰肉毒碱, C2;乙酰肉碱, C2 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液辛酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C8);C8;辛酰基肉碱;辛酰肉碱, C8

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53177-2 Octanoylcarnitine (C8)/Decanoylcarnitine (C10) [Molar ratio] in DBS

Term Description

Octanoylcarnitine/Decanoylcarnitine is a primary marker for Secondary marker for Medium-chain acyl-CoA dehydrogenase deficiency, and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC

Part Descriptions

LP19313-3 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency. Source: Regenstrief LOINC

LP70167-9 Decanoylcarnitine (C10)
Decanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency and Glutaric acidemia type II. Secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Octanoylcarnitine (C8)/Decanoylcarnitine (C10)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Octanoylcarn/C10 DBS-sRto
Display Name: C8/Decanoylcarnitine (C10) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C8/Decanoylcarnitine (C10), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 17083

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Octanoilcarnitina (C8)/Decanoilcarnitina (C10):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Octanoilcarnitina (C8) / Decanoilcarnitina (C10):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Octanoylcarnitine (C8)/décanoylcarnitine (C10):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Octanoylcarnitine (C8)/Décanoylcarnitine (C10):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Octanoylcarnitine (C8)/Décanoylcarnitine (C10):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Octanoilcarnitina (C8)/Decanoilcarnitina (C10):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	octanoylcarnitine (C8)/decanoylcarnitine (C10):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Octanoilcarnitina (C8)/Decanoilcarnitina (C10):SCrto:Pt:SgPapel:Qn: Synonyms: ; Octanoylcarn; Decanoylcarn; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Октаноилкарнитин (C8)/Деканоилкарнитин (C10):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Oktanoilkarnitin (C8)/Dekanoilkarnitin (C10):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	辛酰肉碱 (C8)/癸酰肉碱 (C10):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值癸酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10);C10 癸酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10);C10;癸酰基肉碱;癸酰肉碱, C10 血;血液辛酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C8);C8;辛酰基肉碱;辛酰肉碱, C8

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53178-0 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC) [Moles/volume] in DBS

Part Descriptions

LP70084-6 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)
3-Hydroxyoctanoylcarnitine+Malonylcarnitine is a primary marker for Malonic acidemia and Medium-chain ketoacyl-CoA thiolase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 3OHoctanoyl+Malonylcarn DBS-sCnc
Display Name: C8-OH+C3-DC (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C8-OH+C3-DC, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.70
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	3-hidroxioctanoilcarnitina (C8-OH) + malonilcarnitina (C3-DC):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	3-hüdroksüoktanoüülkarnitiin (C8-OH) + malonüülkarnitiin (C3-DC):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	3-hydroxyoctanoylcarnitine (C8-OH)+malonylcarnitine (C3-DC):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	3-hydroxyoctanoylcarnitine (C8-OH)+ Malonylcarnitine (C3-DC):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	3-Idrossiottanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	3-hydroxyoctanoylcarnitine (C8-OH) + malonylcarnitine (C3-DC):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC):SCnc:Pt:SgPapel:Qn: Synonyms: ; Malonylcarn; C3DC; Dicarboxylic carnitine; 3OHoctanoyl+Malonylcarn; C8-DC; C8OH; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	3-Гидроксиоктаноилкарнитин (C8-OH)+Малонилкарнитин (C3-DC):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	3-Hidroksioktanoilkarnitin (C8-OH)+Malonylkarnitin (C3-DC):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	3-羟基辛酰基肉碱 (C8-OH)+丙二酰肉碱 (C3-DC):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 3-羟基辛酰基肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C8-OH)+丙二酰肉碱 (C3-DC);3-羟辛酰肉碱 (C8-OH)+丙二酰肉碱 (C3-DC) Ⅲ III 三丙二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3-DC);C3DC;C3-DC;C3-DCC;丙二酸单酰肉碱;丙二酰基肉碱;丙二酰基酰基肉碱;丙二酸单酰基肉碱;丙二酸单酰肉碱, C3-DC;酰基肉碱丙二酸单酰基;丙二酸单酰肉碱;丙二酰肉碱克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53402-4 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS

Part Descriptions

LP70084-6 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)
3-Hydroxyoctanoylcarnitine+Malonylcarnitine is a primary marker for Malonic acidemia and Medium-chain ketoacyl-CoA thiolase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 3OHoctanoyl+Malonylcarn/C4 DBS-sRto
Display Name: C8-OH+C3-DC/Butyrylcarnitine+Isobutyrylcarnitine (C4) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C8-OH+C3-DC/Butyrylcarnitine+Isobutyrylcarnitine (C4), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.70
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Butirilcarnitina + Isobutirilcarnitina (C4):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	3-hidroxioctanoilcarnitina (C8-OH) + malonilcarnitina (C3-DC) / butirilcarnitina + isobutirilcarnitina (C4):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	3-hydroxyoctanoylcarnitine (C8-OH)+malonylcarnitine (C3-DC)/butyrylcarnitine+isobutyrylcarnitine (C4):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	3-hydroxyoctanoylcarnitine (C8-OH)+ Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	3-Idrossiottanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Butirrilcarnitina+Isobutirrilcarnitina (C4):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	3-hydroxyoctanoylcarnitine (C8-OH) + malonylcarnitine (C3-DC)/butyrylcarnitine + isobutyrylcarnitine (C4):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Butirilcarnitina+Isobutirilcarnitina (C4):SCrto:Pt:SgPapel:Qn: Synonyms: ; 3OHoctanoyl+Malonylcarn; C8-DC; Malonylcarn; C3DC; Dicarboxylic carnitine; Isobutyrylcarn; Butyryl+Isobutyrylcarn; 3OHoctanoyl+Malonylcarn; C8OH; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	3-Гидроксиоктаноилкарнитин (C8-OH)+Малонилкарнитин (C3-DC)/Бутирилкарнитин+Изобутирилкарнитин (C4):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	3-Hidroksioktanoilkarnitin (C8-OH)+Malonylkarnitin (C3-DC)/Bütirilkarnitin+izobütirilkarnitin (C4):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	3-羟基辛酰基肉碱 (C8-OH)+丙二酰肉碱 (C3-DC)/丁酰肉碱+异丁酰肉碱 (C4):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 3-羟基辛酰基肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C8-OH)+丙二酰肉碱 (C3-DC);3-羟辛酰肉碱 (C8-OH)+丙二酰肉碱 (C3-DC) Ⅲ III 丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）+异丁酰肉碱 (C4);丁酰基肉毒碱+异丁酰基肉毒碱 (C4) 丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）+异丁酰肉碱 (C4);丁酰基肉毒碱+异丁酰基肉毒碱 (C4);丁酰基肉碱+异丁酰基肉碱 (C4);丁酰肉毒碱+异丁酰肉毒碱 (C4) 三丙二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3-DC);C3DC;C3-DC;C3-DCC;丙二酸单酰肉碱;丙二酰基肉碱;丙二酰基酰基肉碱;丙二酸单酰基肉碱;丙二酸单酰肉碱, C3-DC;酰基肉碱丙二酸单酰基;丙二酸单酰肉碱;丙二酰肉碱全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺异丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C4);C4;异丁酰基肉碱;异丁酰肉碱, C4 时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53179-8 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS

Term Description

3-Hydroxyoctanoylcarnitine+Malonylcarnitine/Decanoylcarnitine is a primary marker for Malonic acidemia and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC

Part Descriptions

LP70084-6 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)
3-Hydroxyoctanoylcarnitine+Malonylcarnitine is a primary marker for Malonic acidemia and Medium-chain ketoacyl-CoA thiolase deficiency. Source: Regenstrief LOINC

LP70167-9 Decanoylcarnitine (C10)
Decanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency and Glutaric acidemia type II. Secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 3OHoctanoyl+Malonylcarn/C10 DBS-sRto
Display Name: C8-OH+C3-DC/Decanoylcarnitine (C10) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C8-OH+C3-DC/Decanoylcarnitine (C10), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.61
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	3-hidroxioctanoilcarnitina (C8-OH) + malonilcarnitina (C3-DC) / decanoilcarnitina (C10):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	3-hydroxyoctanoylcarnitine (C8-OH)+malonylcarnitine (C3-DC)/décanoylcarnitine (C10):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Décanoylcarnitine (C10):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	3-hydroxyoctanoylcarnitine (C8-OH)+ Malonylcarnitine (C3-DC)/Décanoylcarnitine (C10):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	3-Idrossiottanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	3-hydroxyoctanoylcarnitine (C8-OH) + malonylcarnitine (C3-DC)/decanoylcarnitine (C10):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10):SCrto:Pt:SgPapel:Qn: Synonyms: ; 3OHoctanoyl+Malonylcarn; C8-DC; Malonylcarn; C3DC; Dicarboxylic carnitine; Decanoylcarn; 3OHoctanoyl+Malonylcarn; C8OH; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	3-Гидроксиоктаноилкарнитин (C8-OH)+Малонилкарнитин (C3-DC)/Деканоилкарнитин (C10):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	3-Hidroksioktanoilkarnitin (C8-OH)+Malonylkarnitin (C3-DC)/Dekanoilkarnitin (C10):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	3-羟基辛酰基肉碱 (C8-OH)+丙二酰肉碱 (C3-DC)/癸酰肉碱 (C10):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 3-羟基辛酰基肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C8-OH)+丙二酰肉碱 (C3-DC);3-羟辛酰肉碱 (C8-OH)+丙二酰肉碱 (C3-DC) Ⅲ III 三丙二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3-DC);C3DC;C3-DC;C3-DCC;丙二酸单酰肉碱;丙二酰基肉碱;丙二酰基酰基肉碱;丙二酸单酰基肉碱;丙二酸单酰肉碱, C3-DC;酰基肉碱丙二酸单酰基;丙二酸单酰肉碱;丙二酰肉碱全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值癸酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10);C10 癸酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10);C10;癸酰基肉碱;癸酰肉碱, C10 血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53180-6 Decadienoylcarnitine (C10:2) [Moles/volume] in DBS

Part Descriptions

LP70085-3 Decadienoylcarnitine (C10:2)
Decadienoylcarnitine is a primary marker for 2,4-Dienoyl-CoA reductase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Decadienoylcarnitine (C10:2)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Decadienoylcarn DBS-sCnc
Display Name: C10:2 (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C10:2, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 18254

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Decadienoilcarnitina (C10:2):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Decadienoilcarnitina (C10:2):Concentración de sustancias:Punto temporal:DBS:Cuantitativo
et-EE	Estonian (Estonia)	Dekadienoüülkarnitiin (C10:2):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Décadiénoylcarnitine (C10:2):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Décadienoylcarnitine (C10:2):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Décadienoylcarnitine (C10:2):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Decadienoilcarnitina (C10:2):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	decadienoylcarnitine (C10:2):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Decadienoilcarnitina (C10:2):SCnc:Pt:SgPapel:Qn: Synonyms: ; Decadienoylcarn; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; II; Chemistry
ru-RU	Russian (Russian Federation)	Декадиеноилкарнитин (C10:2):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Dekadienoilkarnitin (C10:2):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	癸二烯酰肉碱 (C10:2):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Ⅱ II 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间癸二烯酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10:2) 血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

45198-9 Decenoylcarnitine (C10:1) [Moles/volume] in DBS

Part Descriptions

LP29044-2 Decenoylcarnitine (C10:1)
Decenoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency and Glutaric acidemia type II. Secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Decenoylcarnitine (C10:1)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Decenoylcarn DBS-sCnc
Display Name: C10:1 (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C10:1, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.17
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 19935

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Decenoilcarnitina (C10:1):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Decenoilcarnitina (C10:1):Concentración de sustancias:Punto temporal:DBS:Cuantitativo
et-EE	Estonian (Estonia)	Dekenoüülkarnitiin (C10:1):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Décènoylcarnitine (C10:1):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Décénoylcarnitine (C10:1):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Décénoylcarnitine (C10:1):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Decenoilcarnitina (C10:1):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	decenoylcarnitine (C10:1):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Decenoilcarnitina (C10:1):SCnc:Pt:SgPapel:Qn: Synonyms: ; Decenoylcarn; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; I; Chemistry
ru-RU	Russian (Russian Federation)	Деценоилкарнитин (C10:1):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Dekenoilkarnitin (C10:1):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	癸烯酰肉碱 (C10:1):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Ⅰ I 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间癸烯酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10:1);C10:1;癸烯酰基肉碱;癸烯酰肉碱, C10:1 血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

45197-1 Decanoylcarnitine (C10) [Moles/volume] in DBS

Part Descriptions

LP19317-4 Decanoylcarnitine (C10)
Decanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency and Glutaric acidemia type II. Secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Decanoylcarnitine (C10)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Decanoylcarn DBS-sCnc
Display Name: C10 (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C10, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.17
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 18157

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Decanoilcarnitina (C10):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Decanoilcarnitina (C10):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Dekanoüülkarnitiin (C10):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Décanoylcarnitine (C10):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Décanoylcarnitine (C10):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Décanoylcarnitine (C10):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Decanoilcarnitina (C10):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	decanoylcarnitine (C10):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Decanoilcarnitina (C10):SCnc:Pt:SgPapel:Qn: Synonyms: ; Decanoylcarn; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Деканоилкарнитин (C10):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Dekanoilkarnitin (C10):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	癸酰肉碱 (C10):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间癸酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10);C10;癸酰基肉碱;癸酰肉碱, C10 血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53182-2 3-Hydroxydecenoylcarnitine (C10:1-OH) [Moles/volume] in DBS

Part Descriptions

LP70087-9 3-Hydroxydecenoylcarnitine (C10:1-OH)
3-Hydroxydecenoylcarnitine is a secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, Medium-chain ketoacyl-CoA thiolase deficiency, and Trifunctional protein deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: 3-Hydroxydecenoylcarnitine (C10:1-OH)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 3-OH-decenoylcarn DBS-sCnc
Display Name: C10:1-OH (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C10:1-OH, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	3-Hidroxidecenoilcarnitina (C10:1-OH):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	3-hidroxidocenoilcarnitina (C10:1-OH):Concentración de sustancias:Punto temporal:DBS:Cuantitativo
et-EE	Estonian (Estonia)	3-hüdroksüdekenoüülkarnitiin (C10:1-OH):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	3-hydroxydécénoylcarnitine (C10:1-OH):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	3-Hydroxydécenoylcarnitine (C10:1-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	3-hydroxydécenoylcarnitine (C10:1-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	3-Idrossidecanoilcarnitina (C10:1-OH):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	3-hydroxydecenoylcarnitine (C10:1-OH):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	3-Hidroxidecenoilcarnitina (C10:1-OH):SCnc:Pt:SgPapel:Qn: Synonyms: ; 3-OH-decenoylcarn; C10:1OH; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; I; Chemistry
ru-RU	Russian (Russian Federation)	3-Гидроксидеценоилкарнитин (C10:1-OH):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	3-Hidroksidecenoylkarnitin (C10:1-OH):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	3-羟基十二烯酸基肉碱 (C10:1-OH):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Ⅰ 3-羟基十二烯酸基肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10:1-OH);3-羟十二烯酸基肉碱 (C10:1-OH) Ⅲ I III 三克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53183-0 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH) [Moles/volume] in DBS

Part Descriptions

LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Glut+3OHdecanoylcarn DBS-sCnc
Display Name: C5-DC+C10-OH (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C5-DC+C10-OH, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Glutarilcarnitina+3-Hidroxidecanoilcarnitina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Glutarilcarnitina (C5-DC) + 3-Hidroxidocanoilcarnitina (C10-OH):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Glutarüülkarnitiin (C5-DC) + 3-hüdroksüdekanoüülkarnitiin (C10-OH):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH):SCnc:Pt:SgPapel:Qn: Synonyms: ; Glut+3OHdecanoylcarn; Glutarylcarn; Dicarboxylic carnitine; C5DC; C10OH; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 3-羟癸酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10-OH);3-羟基癸酰基肉毒碱 (C10-OH);3-羟基癸酰基肉碱 (C10-OH) Ⅲ III 三克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC);C5DC;C5-DC;戊二酰基肉碱;戊二酰肉碱, C5DC;戊二酸单酰基肉碱;戊二酸单酰肉碱;戊二酸单酰肉碱, C5DC 戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC)+3-羟癸酰肉碱 (C10-OH);Glutarylcarn+3OHdecanoylcarn;戊二酰基肉毒碱+3-羟基癸酰基肉毒碱;戊二酰基肉碱+3-羟基癸酰基肉碱;戊二酰肉毒碱+3OH癸酰肉毒碱;戊二酰肉毒碱+3-羟基癸酰肉毒碱;戊二酰肉毒碱+3-羟癸酰肉毒碱;戊二酰肉碱+3OH癸酰肉碱;戊二酰肉碱+3-羟基癸酰肉碱;戊二酸单酰基肉毒碱+3-羟基癸酰基肉毒碱;戊二酸单酰基肉碱+3-羟基癸酰基肉碱;戊二酸单酰肉毒碱+3-羟基癸酰肉毒碱;戊二时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53403-2 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS

Part Descriptions

LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Glut+3OHdecanoylcarn/C4 DBS-sRto
Display Name: C5-DC+C10-OH/Butyrylcarnitine+Isobutyrylcarnitine (C4) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C5-DC+C10-OH/Butyrylcarnitine+Isobutyrylcarnitine (C4), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Glutarilcarnitina+3-Hidroxidecanoilcarnitina/Butirilcarnitina + Isobutirilcarnitina (C4):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Glutarilcarnitina (C5-DC) + 3-Hidroxidocanoilcarnitina (C10-OH) / Butirilcarnitina + Isobutirilcarnitina (C4):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH)/butyrylcarnitine+Isobutyrylcarnitine (C4):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH)/Butirrilcarnitina+Isobutirrilcarnitina (C4):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH)/butyrylcarnitine + isobutyrylcarnitine (C4):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH)/Butirilcarnitina+Isobutirilcarnitina (C4):SCrto:Pt:SgPapel:Qn: Synonyms: ; Glut+3OHdecanoylcarn; Isobutyrylcarn; Glut+3OHdecanoylcarn; Glutarylcarn; Dicarboxylic carnitine; C5DC; Butyryl+Isobutyrylcarn; C10OH; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH)/Бутирилкарнитин+Изобутирилкарнитин (C4):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH)/Bütirilkarnitin+izobütirilkarnitin (C4):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH)/丁酰肉碱+异丁酰肉碱 (C4):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 3-羟癸酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10-OH);3-羟基癸酰基肉毒碱 (C10-OH);3-羟基癸酰基肉碱 (C10-OH) Ⅲ III 丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）+异丁酰肉碱 (C4);丁酰基肉毒碱+异丁酰基肉毒碱 (C4) 丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）+异丁酰肉碱 (C4);丁酰基肉毒碱+异丁酰基肉毒碱 (C4);丁酰基肉碱+异丁酰基肉碱 (C4);丁酰肉毒碱+异丁酰肉毒碱 (C4) 三全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺异丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C4);C4;异丁酰基肉碱;异丁酰肉碱, C4 戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC);C5DC;C5-DC;戊二酰基肉碱;戊二酰肉碱, C5DC;戊二酸单酰基肉碱;戊二酸单酰肉碱;戊二酸单酰肉碱, C5DC 戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC)+3-羟癸酰肉碱 (C10-OH);Glutarylcarn+3OHdecanoylcarn;戊二酰基肉毒碱+3-羟基癸酰基肉毒碱;戊二酰基肉碱+3-羟基癸酰基肉碱;戊二酰肉毒碱+3OH癸酰肉毒碱;戊二酰肉毒碱+3-羟基癸酰肉毒碱;戊二酰肉毒碱+3-羟癸酰肉毒碱;戊二酰肉碱+3OH癸酰肉碱;戊二酰肉碱+3-羟基癸酰肉碱;戊二酸单酰基肉毒碱+3-羟基癸酰基肉毒碱;戊二酸单酰基肉碱+3-羟基癸酰基肉碱;戊二酸单酰肉毒碱+3-羟基癸酰肉毒碱;戊二时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53184-8 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS

Term Description

Glutarylcarnitine+3-Hydroxydecanoylcarnitine/3-Hydroxyisovalerylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC

Part Descriptions

LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I. Source: Regenstrief LOINC

LP70356-8 3-Hydroxyisovalerylcarnitine (C5-OH)
3-Hydroxyisovalerylcarnitine is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-Hydroxyisovalerylcarnitine (C5-OH)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Glut+3OHdecanoylcarn/C5OH DBS-sRto
Display Name: C5-DC+C10-OH/3-Hydroxyisovalerylcarnitine (C5-OH) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C5-DC+C10-OH/3-Hydroxyisovalerylcarnitine (C5-OH), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Glutarilcarnitina+3-Hidroxidecanoilcarnitina/3-Hidroxiisovalerilcarnitina (C5-OH):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Glutarilcarnitina (C5-DC) + 3-Hidroxidocanoilcarnitina (C10-OH) / 3-Hidroxiisovalerilcarnitina (C5-OH):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH)/3-hydroxyisovalérylcarnitine (C5-OH):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-hydroxyisovalérylcarnitine (C5-OH):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH)/3-hydroxyisovalérylcarnitine (C5-OH):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH)/3-Idrossiisovalerilcarnitina (C5-OH):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH)/3-hydroxyisovalerylcarnitine (C5-OH):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH)/3-Hidroxisovalerilcarnitina (C5-OH):SCrto:Pt:SgPapel:Qn: Synonyms: ; Glut+3OHdecanoylcarn; Glut+3OHdecanoylcarn; Glutarylcarn; Dicarboxylic carnitine; C5DC; 3OH-Isovalerylcarn; 3-hydroxy-isovalerylcarnitine; C5OH; C10OH; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH)/3-Гидроксиизовалерилкарнитин (C5-OH):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH)/3-Hidroksiizovalerilkarnitin (C5-OH):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH)/3-羟基异戊酰肉碱 (C5-OH):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 3-羟基异戊酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-OH);3OH-异戊酰肉碱 3-羟基异戊酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-OH);3OH-异戊酰肉碱;3-羟基异戊酰基肉碱;3-羟基-异戊酰基肉碱;3-羟基-异戊酰肉碱;3-羟基-异戊酰肉碱, C5-OH;3-羟基异戊酰肉碱, C5-OH;C5OH;C5-OH 3-羟癸酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10-OH);3-羟基癸酰基肉毒碱 (C10-OH);3-羟基癸酰基肉碱 (C10-OH) Ⅲ III 三全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC);C5DC;C5-DC;戊二酰基肉碱;戊二酰肉碱, C5DC;戊二酸单酰基肉碱;戊二酸单酰肉碱;戊二酸单酰肉碱, C5DC 戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC)+3-羟癸酰肉碱 (C10-OH);Glutarylcarn+3OHdecanoylcarn;戊二酰基肉毒碱+3-羟基癸酰基肉毒碱;戊二酰基肉碱+3-羟基癸酰基肉碱;戊二酰肉毒碱+3OH癸酰肉毒碱;戊二酰肉毒碱+3-羟基癸酰肉毒碱;戊二酰肉毒碱+3-羟癸酰肉毒碱;戊二酰肉碱+3OH癸酰肉碱;戊二酰肉碱+3-羟基癸酰肉碱;戊二酸单酰基肉毒碱+3-羟基癸酰基肉毒碱;戊二酸单酰基肉碱+3-羟基癸酰基肉碱;戊二酸单酰肉毒碱+3-羟基癸酰肉毒碱;戊二时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53185-5 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS

Term Description

Glutarylcarnitine+3-Hydroxydecanoylcarnitine/Octanoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency.
Source: Regenstrief LOINC

Part Descriptions

LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I. Source: Regenstrief LOINC

LP70166-1 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Glut+3OHdecanoylcarn/C8 DBS-sRto
Display Name: C5-DC+C10-OH/Octanoylcarnitine (C8) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C5-DC+C10-OH/Octanoylcarnitine (C8), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Glutarilcarnitina+3-Hidroxidecanoilcarnitina/Octanoilcarnitina (C8):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Glutarilcarnitina (C5-DC) + 3-hidroxidocanoilcarnitina (C10-OH) / octanoilcarnitina (C8):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH)/octanoylcarnitine (C8):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH)/Octanoylcarnitine (C8):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH)/Octanoilcarnitina (C8):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH)/octanoylcarnitine (C8):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH)/Octanoilcarnitina (C8):SCrto:Pt:SgPapel:Qn: Synonyms: ; Glut+3OHdecanoylcarn; Octanoylcarn; Glut+3OHdecanoylcarn; Glutarylcarn; Dicarboxylic carnitine; C5DC; C10OH; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH)/Октаноилкарнитин (C8):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH)/Oktanoilkarnitin (C8):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH)/辛酰肉碱 (C8):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 3-羟癸酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10-OH);3-羟基癸酰基肉毒碱 (C10-OH);3-羟基癸酰基肉碱 (C10-OH) Ⅲ III 三全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC);C5DC;C5-DC;戊二酰基肉碱;戊二酰肉碱, C5DC;戊二酸单酰基肉碱;戊二酸单酰肉碱;戊二酸单酰肉碱, C5DC 戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC)+3-羟癸酰肉碱 (C10-OH);Glutarylcarn+3OHdecanoylcarn;戊二酰基肉毒碱+3-羟基癸酰基肉毒碱;戊二酰基肉碱+3-羟基癸酰基肉碱;戊二酰肉毒碱+3OH癸酰肉毒碱;戊二酰肉毒碱+3-羟基癸酰肉毒碱;戊二酰肉毒碱+3-羟癸酰肉毒碱;戊二酰肉碱+3OH癸酰肉碱;戊二酰肉碱+3-羟基癸酰肉碱;戊二酸单酰基肉毒碱+3-羟基癸酰基肉毒碱;戊二酸单酰基肉碱+3-羟基癸酰基肉碱;戊二酸单酰肉毒碱+3-羟基癸酰肉毒碱;戊二时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液辛酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C8);C8 辛酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C8);C8;辛酰基肉碱;辛酰肉碱, C8

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53186-3 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS

Term Description

Glutarylcarnitine+3-Hydroxydecanoylcarnitine/Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency. Secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC

Part Descriptions

LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I. Source: Regenstrief LOINC

LP70162-0 Palmitoylcarnitine (C16)
Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Carnitine uptake defect. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Glut+3OHdecanoylcarn/C16 DBS-sRto
Display Name: C5-DC+C10-OH/Palmitoylcarnitine (C16) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C5-DC+C10-OH/Palmitoylcarnitine (C16), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Glutarilcarnitina+3-Hidroxidecanoilcarnitina/Palmitoilcarnitina (C16):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Glutarilcarnitina (C5-DC) + 3-Hidroxidocanoilcarnitina (C10-OH) / Palmitoilcarnitina (C16):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH)/palmitoylcarnitine (C16):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH)/Palmitoilcarnitina (C16):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH)/palmitoylcarnitine (C16):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH)/Palmitoilcarnitina (C16):SCrto:Pt:SgPapel:Qn: Synonyms: ; Glut+3OHdecanoylcarn; Palmitoylcarn; Hexadecanoylcarnitine; Glut+3OHdecanoylcarn; Glutarylcarn; Dicarboxylic carnitine; C5DC; C10OH; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH)/Пальмитоилкарнитин (C16):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH)/Palmitoilkarnitin (C16):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH)/棕榈酰肉碱 (C16):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 3-羟癸酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10-OH);3-羟基癸酰基肉毒碱 (C10-OH);3-羟基癸酰基肉碱 (C10-OH) Ⅲ III 三全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC);C5DC;C5-DC;戊二酰基肉碱;戊二酰肉碱, C5DC;戊二酸单酰基肉碱;戊二酸单酰肉碱;戊二酸单酰肉碱, C5DC 戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC)+3-羟癸酰肉碱 (C10-OH);Glutarylcarn+3OHdecanoylcarn;戊二酰基肉毒碱+3-羟基癸酰基肉毒碱;戊二酰基肉碱+3-羟基癸酰基肉碱;戊二酰肉毒碱+3OH癸酰肉毒碱;戊二酰肉毒碱+3-羟基癸酰肉毒碱;戊二酰肉毒碱+3-羟癸酰肉毒碱;戊二酰肉碱+3OH癸酰肉碱;戊二酰肉碱+3-羟基癸酰肉碱;戊二酸单酰基肉毒碱+3-羟基癸酰基肉毒碱;戊二酸单酰基肉碱+3-羟基癸酰基肉碱;戊二酸单酰肉毒碱+3-羟基癸酰肉毒碱;戊二时刻;随机;随意;瞬间棕榈酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C16);C16 棕榈酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C16);C16;十六烷酰肉碱;十六醛肉碱;棕榈酰肉碱, C16;棕榈醛肉碱物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

45200-3 Dodecenoylcarnitine (C12:1) [Moles/volume] in DBS

Part Descriptions

LP19319-0 Dodecenoylcarnitine (C12:1)
Dodecenoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency. Secondary marker for Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Dodecenoylcarnitine (C12:1)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Dodecenoylcarn DBS-sCnc
Display Name: C12:1 (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C12:1, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.17
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 18829

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Dodecenoilcarnitina (C12:1):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Dodecenoilcarnitina (C12:1):Concentración de sustancias:Punto temporal:DBS:Cuantitativo
et-EE	Estonian (Estonia)	Dodekenoüülkarnitiin (C12:1):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Dodécènoylcarnitine (C12:1):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Dodecenoylcarnitine (C12:1):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Dodecenoylcarnitine (C12:1):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Dodecenoilcarnitina (C12:1):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	dodecenoylcarnitine (C12:1):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Dodecenoilcarnitina (C12:1):SCnc:Pt:SgPapel:Qn: Synonyms: ; Dodecenoylcarn; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; I; Chemistry
ru-RU	Russian (Russian Federation)	Додеценоилкарнитин (C12:1):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Dodesenoilkarnitin (C12:1):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	十二烯酰肉碱 (C12:1):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Ⅰ I 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类十二烯酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C12:1);C12:1;十二烯酰基肉碱;十二烯酰肉碱, C12:1 可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

45199-7 Dodecanoylcarnitine (C12) [Moles/volume] in DBS

Part Descriptions

LP19320-8 Dodecanoylcarnitine (C12)
Dodecanoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency. Source: Regenstrief Institute

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Dodecanoylcarnitine (C12)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Dodecanoylcarn DBS-sCnc
Display Name: C12 (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C12, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.17
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 18895

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Dodecanoilcarnitina (C12):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Dodecanoilcarnitina (C12):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Dodekanoüülkarnitiin (C12):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Dodécanoylcarnitine (C12):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Dodecanoylcarnitine (C12):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Dodecanoylcarnitine (C12):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Dodecanoilcarnitina (C12):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	dodecanoylcarnitine (C12):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Dodecanoilcarnitina (C12):SCnc:Pt:SgPapel:Qn: Synonyms: ; Dodecanoylcarn; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Додеканоилкарнитин (C12):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Dodekanoilkarnitin (C12):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	十二烷酰肉碱 (C12):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类十二烷酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C12);C12;十二烷酰基肉碱;十二烷酰肉碱, C12 可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53188-9 3-Hydroxydodecenoylcarnitine (C12:1-OH) [Moles/volume] in DBS

Part Descriptions

LP70088-7 3-Hydroxydodecenoylcarnitine (C12:1-OH)
3-Hydroxydodecenoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: 3-Hydroxydodecenoylcarnitine (C12:1-OH)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 3-OH-dodecenoylcarn DBS-sCnc
Display Name: C12:1-OH (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C12:1-OH, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	3-Hidroxidodecenoilcarnitina (C12:1-OH):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	3-hidroxidodecenoilcarnitina (C12:1-OH):Concentración de sustancias:Punto temporal:DBS:Cuantitativo
et-EE	Estonian (Estonia)	3-hüdroksüdodekenoüülkarnitiin (C12:1-OH):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	3-hydroxydodécènoylcarnitine (C12:1-OH):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	3-Hydroxydodécenoylcarnitine (C12:1-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	3-hydroxydodécenoylcarnitine (C12:1-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	3-Idrossidodecenoilcarnitina (C12:1-OH):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	3-hydroxydodecenoylcarnitine (C12:1-OH):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	3-Hidroxidodecenoilcarnitina (C12:1-OH):SCnc:Pt:SgPapel:Qn: Synonyms: ; 3-OH-dodecenoylcarn; C12:1OH; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; I; Chemistry
ru-RU	Russian (Russian Federation)	3-Гидроксидодеценоилкарнитин (C12:1-OH):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	3-Hidroksidodecenoylkarnitin (C12:1-OH):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	3-羟基十二烯酸基肉碱 (C12:1-OH):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Ⅰ 3-羟基十二烯酸基肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C12:1-OH);3-羟十二烯酸基肉碱 (C12:1-OH) Ⅲ I III 三克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53189-7 3-Hydroxydodecanoylcarnitine (C12-OH) [Moles/volume] in DBS

Part Descriptions

LP28984-0 3-Hydroxydodecanoylcarnitine (C12-OH)
3-Hydroxydodecanoylcarnitine is a secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: 3-Hydroxydodecanoylcarnitine (C12-OH)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 3OH-Dodecanoylcarn DBS-sCnc
Display Name: C12-OH (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C12-OH, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	3-hidroxidodecanoilcarnitina (C12-OH):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	3-hidroxidodecanoilcarnitina (C12-OH):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	3-hüdroksüdodekanoüülkarnitiin (C12-OH):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	3-hydroxydodécanoylcarnitine (C12-OH):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	3-hydroxydodécanoylcarnitine (C12:OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	3-hydroxydodécanoylcarnitine (C12:OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	3-Idrossidodecanoilcarnitina (C12-OH):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	3-hydroxydodecanoylcarnitine (C12-OH):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	3-Hidroxidodecanoilcarnitina (C12-OH):SCnc:Pt:SgPapel:Qn: Synonyms: ; 3OH-Dodecanoylcarn; C12OH; 3-hydroxy-dodecanoylcarnitine; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	3-Гидроксидодеканоилкарнитин (C12-OH):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	3-Hidroksidodekanoylkarnitin (C12-OH):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	3-羟基十二烷酰肉碱 (C12-OH):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 3-羟基十二烷酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C12-OH);3OH-十二烷酰肉碱;3-羟基十二烷酰基肉碱;3-羟基十二烷酰肉碱, C12-OH;C12OH;C12-OH Ⅲ III 三克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53190-5 Tetradecadienoylcarnitine (C14:2) [Moles/volume] in DBS

Part Descriptions

LP19321-6 Tetradecadienoylcarnitine (C14:2)
Tetradecadienoylcarnitine is a primary marker for Glutaric acidemia type I. Secondary marker for Maternal glutaric acidemia type I. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Tetradecadienoylcarnitine (C14:2)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Tdecadienoylcarn DBS-sCnc
Display Name: C14:2 (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C14:2, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 17564

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Tetradecadienoilcarnitina (C14:2):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Tetradecadienoilcarnitina (C14:2):Concentración de sustancias:Punto temporal:DBS:Cuantitativo
et-EE	Estonian (Estonia)	Tetradekadienoüülkarnitiin (C14:2):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Tétradécadiénoylcarnitine (C14:2):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Tétradecadienoylcarnitine (C14:2):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Tétradecadienoylcarnitine (C14:2):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Tetradecadienoilcarnitina (C14:2):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	tetradecadienoylcarnitine (C14:2):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Tetradecadienoilcarnitina (C14:2):SCnc:Pt:SgPapel:Qn: Synonyms: ; Tdecadienoylcarn; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; II; Chemistry
ru-RU	Russian (Russian Federation)	Тетрадекадиеноилкарнитин (C14:2):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Tetradekadienoilkarnitin (C14:2):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	十四烷二烯酰肉碱 (C14:2):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Ⅱ II 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类十四烷二烯酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C14:2);C14:2;十四烷二烯酰基肉碱;十四烷二烯酰肉碱, C14:2 可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53191-3 Tetradecenoylcarnitine (C14:1) [Moles/volume] in DBS

Part Descriptions

LP19322-4 Tetradecenoylcarnitine (C14:1)
Tetradecenoylcarnitine is a primary marker for Glutaric acidemia type I and Maternal glutaric acidemia type I. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Tetradecenoylcarnitine (C14:1)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Tdecenoylcarn DBS-sCnc
Display Name: C14:1 (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C14:1, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 18166

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Tetradecenoilcarnitina (C14:1):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Tetradecenoilcarnitina (C14:1):Concentración de sustancias:Punto temporal:DBS:Cuantitativo
et-EE	Estonian (Estonia)	Tetradekenoüülkarnitiin (C14:1):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Tétradécènoylcarnitine (C14:1):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Tétradécenoylcarnitine (C14:1):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Tétradécenoylcarnitine (C14:1):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Tetradecenoilcarnitina (C14:1):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	tetradecenoylcarnitine (C14:1):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Tetradecenoilcarnitina (C14:1):SCnc:Pt:SgPapel:Qn: Synonyms: ; Tdecenoylcarn; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; I; Chemistry
ru-RU	Russian (Russian Federation)	Тетрадеценоилкарнитин (C14:1):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Tetradecenoilkarnitin (C14:1):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	十四烯酰肉碱 (C14:1):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Ⅰ I 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类十四烯酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C14:1);C14:1;十四烯酰基肉碱;十四烯酰肉碱, C14:1 可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53192-1 Tetradecanoylcarnitine (C14) [Moles/volume] in DBS

Part Descriptions

LP29117-6 Tetradecanoylcarnitine (C14)
Tetradecanoylcarnitine is a secondary marker for Very long-chain acyl-CoA dehydrogenase deficiency. Source: Regenstrief Institute

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Tetradecanoylcarnitine (C14)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Tdecanoylcarn DBS-sCnc
Display Name: C14 (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C14, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 11288

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Tetradecanoilcarnitina (C14):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Tetradecanoilcarnitina (C14):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Tetradekanoüülkarnitiin (C14):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Tétradécanoylcarnitine (C14):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Tétradécanoylcarnitine (C14):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Tétradécanoylcarnitine (C14):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Tetradecanoilcarnitina (C14):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	tetradecanoylcarnitine (C14):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Tetradecanoilcarnitina (C14):SCnc:Pt:SgPapel:Qn: Synonyms: ; Tdecanoylcarn; Myristoylcarnitine; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Тетрадеканоилкарнитин (C14):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Tetradekanoilkarnitin (C14):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	十四烷酰肉碱 (C14):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类十四烷酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C14);C14;十四烷酰基肉碱;十四烷酰肉碱, C14 可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53193-9 Tetradecenoylcarnitine (C14:1)/Acetylcarnitine (C2) [Molar ratio] in DBS

Term Description

Tetradecenoylcarnitine/Acetylcarnitine is a secondary marker for Very long-chain acyl-CoA dehydrogenase deficiency.
Source: Regenstrief LOINC

Part Descriptions

LP19322-4 Tetradecenoylcarnitine (C14:1)
Tetradecenoylcarnitine is a primary marker for Glutaric acidemia type I and Maternal glutaric acidemia type I. Source: Regenstrief LOINC

LP70165-3 Acetylcarnitine (C2)
Acetyl-L-carnitine or ALCAR, is an acetylated form of L-carnitine. ALCAR has been claimed to be superior to normal L-carnitine in terms of bioavailability. However, at least one study has suggested that the acetylated form may have a lower oral bioavailability. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Acetylcarnitine

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Tetradecenoylcarnitine (C14:1)/Acetylcarnitine (C2)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Tdecenoylcarn/C2 DBS-sRto
Display Name: C14:1/Acetylcarnitine (C2) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C14:1/Acetylcarnitine (C2), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Tetradecenoilcarnitina (C14:1)/Acetilcarnitina (C2):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Tetradecenoilcarnitina (C14:1) / Acetilcarnitina (C2):Proporción de sustancia:Punto temporal:DBS:Cuantitativo
fr-FR	French (France)	Tétradécènoylcarnitine (C14:1)/acétylcarnitine (C2):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Tétradécenoylcarnitine (C14:1)/Acétylcarnitine (C2):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Tétradécenoylcarnitine (C14:1)/Acétylcarnitine (C2):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Tetradecenoilcarnitina (C14:1)/Acetilcarnitina (C2):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	tetradecenoylcarnitine (C14:1)/acetylcarnitine (C2):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Tetradecenoilcarnitina (C14:1)/Acetilcarnitina (C2):SCrto:Pt:SgPapel:Qn: Synonyms: ; Tdecenoylcarn; Acetylcarn; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; I; Chemistry
ru-RU	Russian (Russian Federation)	Тетрадеценоилкарнитин (C14:1)/Ацетилкарнитин (C2):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Tetradecenoilkarnitin (C14:1)/Asetilkarnitin (C2):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	十四烯酰肉碱 (C14:1)/乙酰肉碱 (C2):物质的量比率:时间点:全血.斑点:定量型: Synonyms: Ⅰ I 乙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C2);C2 乙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C2);C2;乙酰肉毒碱;乙酰肉毒碱, C2;乙酰肉碱, C2 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类十四烯酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C14:1);C14:1;十四烯酰基肉碱;十四烯酰肉碱, C14:1 可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53194-7 Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1) [Molar ratio] in DBS

Term Description

Tetradecenoylcarnitine/Dodecenoylcarnitine is a primary marker for 3-Hydroxy-3-methylglutaric aciduria.
Source: Regenstrief LOINC

Part Descriptions

LP19322-4 Tetradecenoylcarnitine (C14:1)
Tetradecenoylcarnitine is a primary marker for Glutaric acidemia type I and Maternal glutaric acidemia type I. Source: Regenstrief LOINC

LP70355-0 Dodecenoylcarnitine (C12:1)
Dodecenoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency. Secondary marker for Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Tdecenoylcarn/C12:1 DBS-sRto
Display Name: C14:1/Dodecenoylcarnitine (C12:1) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C14:1/Dodecenoylcarnitine (C12:1), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 18649

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Tetradecenoilcarnitina (C14:1)/Dodecanoilcarnitina (C12:1):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Tetradecenoilcarnitina (C14:1) / Dodecenoilcarnitina (C12:1):Proporción de sustancia:Punto temporal:DBS
fr-FR	French (France)	Tétradécènoylcarnitine (C14:1)/dodécènoylcarnitine (C12:1):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Tétradécenoylcarnitine (C14:1)/Dodécenoylcarnitine (C12:1):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Tétradécenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Tetradecenoilcarnitina (C14:1)/Dodecenoilcarnitina (C12:1):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	tetradecenoylcarnitine (C14:1)/dodecenylcarnitine (C12:1):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Tetradecenoilcarnitina (C14:1)/Dodecenoilcarnitina (C12:1):SCrto:Pt:SgPapel:Qn: Synonyms: ; Tdecenoylcarn; Dodecenoylcarn; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; I; Chemistry
ru-RU	Russian (Russian Federation)	Тетрадеценоилкарнитин (C14:1)/Додеценоилкарнитин (C12:1):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Tetradecenoilkarnitin (C14:1)/Dodesenoilkarnitin (C12:1):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	十四烯酰肉碱 (C14:1)/十二烯酰肉碱 (C12:1):物质的量比率:时间点:全血.斑点:定量型: Synonyms: Ⅰ I 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类十二烯酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C12:1);C12:1 十二烯酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C12:1);C12:1;十二烯酰基肉碱;十二烯酰肉碱, C12:1 十四烯酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C14:1);C14:1;十四烯酰基肉碱;十四烯酰肉碱, C14:1 可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53195-4 Tetradecenoylcarnitine (C14:1)/Palmitoylcarnitine (C16) [Molar ratio] in DBS

Term Description

Tetradecenoylcarnitine/Palmitoylcarnitine is a secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC

Part Descriptions

LP19322-4 Tetradecenoylcarnitine (C14:1)
Tetradecenoylcarnitine is a primary marker for Glutaric acidemia type I and Maternal glutaric acidemia type I. Source: Regenstrief LOINC

LP70162-0 Palmitoylcarnitine (C16)
Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Carnitine uptake defect. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Tetradecenoylcarnitine (C14:1)/Palmitoylcarnitine (C16)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Tdecenoylcarn/C16 DBS-sRto
Display Name: C14:1/Palmitoylcarnitine (C16) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C14:1/Palmitoylcarnitine (C16), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Tetradecenoilcarnitina (C14:1)/Palmitoilcarnitina (C16):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Tetradecenoilcarnitina (C14:1) / Palmitoilcarnitina (C16):Proporción de sustancia:Punto temporal:DBS:Cuantitativo
fr-FR	French (France)	Tétradécènoylcarnitine (C14:1)/palmitoylcarnitine (C16):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Tétradécenoylcarnitine (C14:1)/Palmitoylcarnitine (C16):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Tétradécenoylcarnitine (C14:1)/Palmitoylcarnitine (C16):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Tetradecenoilcarnitina (C14:1)/Palmitoilcarnitina (C16):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	tetradecenoylcarnitine (C14:1)/palmitoylcarnitine (C16):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Propionilcarnitina (C3)/Palmitoilcarnitina (C16):SCrto:Pt:SgPapel:Qn: Synonyms: ; Tdecenoylcarn; Palmitoylcarn; Hexadecanoylcarnitine; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; I; Chemistry
ru-RU	Russian (Russian Federation)	Тетрадеценоилкарнитин (C14:1)/Пальмитоилкарнитин (C16):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Tetradecenoilkarnitin (C14:1)/Palmitoilkarnitin (C16):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	十四烯酰肉碱 (C14:1)/棕榈酰肉碱 (C16):物质的量比率:时间点:全血.斑点:定量型: Synonyms: Ⅰ I 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类十四烯酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C14:1);C14:1;十四烯酰基肉碱;十四烯酰肉碱, C14:1 可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间棕榈酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C16);C16 棕榈酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C16);C16;十六烷酰肉碱;十六醛肉碱;棕榈酰肉碱, C16;棕榈醛肉碱物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

70159-9 Tetradecenoylcarnitine (C14:1)/Tetradecanoylcarnitine (C14) [Molar ratio] in DBS

Part Descriptions

LP19322-4 Tetradecenoylcarnitine (C14:1)
Tetradecenoylcarnitine is a primary marker for Glutaric acidemia type I and Maternal glutaric acidemia type I. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Tetradecenoylcarnitine (C14:1)/Tetradecanoylcarnitine (C14)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Tdecenoylcarn/C14 DBS-sRto
Display Name: C14:1/Tetradecanoylcarnitine (C14) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C14:1/Tetradecanoylcarnitine (C14), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.40
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Tetradecenoilcarnitina (C14:1)/Tetradecanoilcarnitina (C14):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Tetradecenoilcarnitina (C14:1) / Tetradecanoilcarnitina (C14):Proporción de sustancia:Punto temporal:DBS:Cuantitativo
fr-CA	French (Canada)	Tétradécenoylcarnitine (C14:1)/Tétradécanoylcarnitine (C14):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Tétradécènoylcarnitine (C14:1)/tétradécanoylcarnitine (C14):Moles ratio:Ponctuel:Sang buvard:Numérique:
it-IT	Italian (Italy)	Tetradecenoilcarnitina (C14:1)/Tetradecanoilcarnitina (C14):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	tetradecenoylcarnitine (C14:1)/tetradecanoylcarnitine (C14):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Tetradecenoilcarnitine (C14:1)/Tetradecanoilcarnitine (C14)::Pt:SgPapel:Qn:
ru-RU	Russian (Russian Federation)	Тетрадеценоилкарнитин (C14:1)/Тетрадеканоилкарнитин (C14):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Tetradecenoilkarnitin (C14:1)/Tetradekanoilkarnitin (C14):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	十四烯酰肉碱 (C14:1)/十四烷酰肉碱 (C14):物质的量比率:时间点:全血.斑点:定量型: Synonyms: Ⅰ I 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类十四烯酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C14:1);C14:1;十四烯酰基肉碱;十四烯酰肉碱, C14:1 十四烷酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C14);C14 十四烷酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C14);C14;十四烷酰基肉碱;十四烷酰肉碱, C14 可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{ratio}	Example UCUM Units

53196-2 3-Hydroxytetradecadienoylcarnitine (C14:2-OH) [Moles/volume] in DBS

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: 3-Hydroxytetradecadienoylcarnitine (C14:2-OH)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 3OH-Tdecadienoylcar DBS-sCnc
Display Name: 3-Hydroxytetradecadienoylcarnitine (C14:2-OH) (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: 3-Hydroxytetradecadienoylcarnitine (C14:2-OH), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	3-Hidroxitetradecadienoilcarnitina (C14:2-OH):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	3-hidroxitetradecadienoilcarnitina (C14:2-OH):Concentración de sustancias:Punto temporal:DBS:Cuantitativo
et-EE	Estonian (Estonia)	3-hüdroksütetradekadieenoüülkarnitiin (C14:2-OH):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	3-hydroxytétradécadiénoylcarnitine (C14:2-OH):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	3-Hydroxytetradecadienoylcarnitine (C14:2-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	3-hydroxytetradecadienoylcarnitine (C14:2-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	3-Idrossitetradecadienoilcarnitina (C14:2-OH):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	3-hydroxytetradecadienoylcarnitine (C14:2-OH):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	3-Hidroxitetradecadienoilcarnitina (C14:2-OH):SCnc:Pt:SgPapel:Qn: Synonyms: ; 3OH-Tdecadienoylcar; C14:2OH; 3-hydroxy-tetradecadienoylcarnitine; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; II; Chemistry
ru-RU	Russian (Russian Federation)	3-Гидрокситетрадекадиеноилкарнитин (C14:2-OH):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	3-Hidroksitetradekadienoilkarnitin (C14:2-OH):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	3-羟基十四烷二烯酰肉碱 (C14:2-OH):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Ⅱ 3-羟基十四烷二烯酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C14:2-OH);3OH-十四烷二烯酰肉碱;3-羟基十四烷二烯酰基肉碱;3-羟基-十四烷二烯酰基肉碱;3-羟基-十四烷二烯酰肉碱;C14OH;C14-OH Ⅲ II III 三克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53197-0 3-Hydroxytetradecenoylcarnitine (C14:1-OH) [Moles/volume] in DBS

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: 3-Hydroxytetradecenoylcarnitine (C14:1-OH)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 3OH-Tdecenoylcarn DBS-sCnc
Display Name: 3-Hydroxytetradecenoylcarnitine (C14:1-OH) (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: 3-Hydroxytetradecenoylcarnitine (C14:1-OH), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	3-Hidroxitetradecenoilcarnitina (C14:1-OH):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	3-hidroxitetradecenoilcarnitina (C14:1-OH):Concentración de sustancias:Punto temporal:DBS:Cuantitativo
et-EE	Estonian (Estonia)	3-hüdroksütetradekenoüülkarnitiin (C14:1-OH):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	3-hydroxytétradécènoylcarnitine (C14:1-OH):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	3-Hydroxytetradecenoylcarnitine (C14:1-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	3-hydroxytetradecenoylcarnitine (C14:1-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	3-Idrossitetradecenoilcarnitina (C14:1-OH):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	3-hydroxytetradecenoylcarnitine (C14:1-OH):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	3-Hidroxitetradecenoilcarnitina (C14:1-OH):SCnc:Pt:SgPapel:Qn: Synonyms: ; 3OH-Tdecenoylcarn; C14:1OH; 3-hydroxy-tetradecenoylcarnitine; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; I; Chemistry
ru-RU	Russian (Russian Federation)	3-Гидрокситетрадеценоилкарнитин (C14:1-OH):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	3-Hidroksitetradekenoylkarnitin (C14:1-OH):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	3-羟基十四烯酰肉碱 (C14:1-OH):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Ⅰ 3-羟基十四烯酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C14:1-OH);3OH-十四烯酰肉碱;3-羟基十四烯酰基肉碱;3-羟基十四烯酰肉碱, C14:1-OH;C14:1OH;C14:1-OH Ⅲ I III 三克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

50281-5 3-Hydroxytetradecanoylcarnitine (C14-OH) [Moles/volume] in DBS

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: 3-Hydroxytetradecanoylcarnitine (C14-OH)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 3OH-Tdecanoylcarn DBS-sCnc
Display Name: C14-OH (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C14-OH, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.22
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 18760

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	3-hidroxitetradecanoilcarnitina (C14-OH):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	3-hidroxitetradecanoilcarnitina (C14-OH):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	3-hüdroksütetradekanoüülkarnitiin (C14-OH):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	3-hydroxytétradécanoylcarnitine (C14-OH):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	3-hydroxytétradécanoylcarnitine (C14-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	3-hydroxytétradécanoylcarnitine (C14-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	3-Idrossitetradecanoilcarnitina (C14-OH):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	3-hydroxytetradecanoylcarnitine (C14-OH):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	3-Hidroxitetradecanoilcarnitina (C14-OH):SCnc:Pt:SgPapel:Qn: Synonyms: ; 3OH-Tdecanoylcarn; 3-hydroxymyristoylcarnitine; C14OH; 3-hydroxy-tetradecanoylcarnitine; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	3-Гидрокситетрадеканоилкарнитин (C14-OH):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	3-Hidroksitetradekenoylkarnitin (C14-OH):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	3-羟基十四烷酰肉碱 (C14-OH):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 3-羟基十四烷酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C14-OH);3OH-十四烷酰肉碱;3-羟基十四烷酰基肉碱;3-羟基十四烷酰肉碱, C14-OH;C14OH;C14-OH Ⅲ III 三克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53198-8 Palmitoleylcarnitine (C16:1) [Moles/volume] in DBS

Part Descriptions

LP29060-8 Palmitoleylcarnitine (C16:1)
Palmitoleylcarnitine is a secondary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Palmitoleylcarnitine (C16:1)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Palmitoleylcarn DBS-sCnc
Display Name: C16:1 (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C16:1, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 17507

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Palmitoleilcarnitina (C16:1):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Palmitoleilcarnitina (C16:1):Concentración de sustancias:Punto temporal:DBS:Cuantitativo
et-EE	Estonian (Estonia)	Palmitoleüülkarnitiin (C16:1):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Palmitoléylcarnitine (C16:1):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Palmitoleylcarnitine (C16:1):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Palmitoleylcarnitine (C16:1):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Palmitoleilcarnitina (C16:1):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	palmitoleylcarnitine (C16:1):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Palmitoleilcarnitina (C16:1):SCnc:Pt:SgPapel:Qn: Synonyms: ; Palmitoleylcarn; Hexadecenoylcarnitine; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; I; Chemistry
ru-RU	Russian (Russian Federation)	Пальмитоилкарнитин (C16:1):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Palmitoleilkarnitin (C16:1):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	棕榈烯酰肉碱 (C16:1):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Ⅰ I 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间棕榈烯酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C16:1);C16:1;十六烯酰肉碱;棕榈烯肉碱;棕榈烯酰肉碱, C16:1 血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53199-6 Palmitoylcarnitine (C16) [Moles/volume] in DBS

Part Descriptions

LP19325-7 Palmitoylcarnitine (C16)
Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Carnitine uptake defect. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Palmitoylcarnitine (C16)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Palmitoylcarn DBS-sCnc
Display Name: C16 (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C16, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 19433

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Palmitoilcarnitina (C16):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Palmitoilcarnitina (C16):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Palmitoüülkarnitiin (C16):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Palmitoylcarnitine (C16):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Palmitoylcarnitine (C16):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Palmitoylcarnitine (C16):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Palmitoilcarnitina (C16):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	palmitoylcarnitine (C16):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Palmitoilcarnitina (C16):SCnc:Pt:SgPapel:Qn: Synonyms: ; Palmitoylcarn; Hexadecanoylcarnitine; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Пальмитоилкарнитин (C16):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Palmitoilkarnitin (C16):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	棕榈酰肉碱 (C16):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间棕榈酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C16);C16;十六烷酰肉碱;十六醛肉碱;棕榈酰肉碱, C16;棕榈醛肉碱血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

50121-3 3-Hydroxypalmitoleylcarnitine (C16:1-OH) [Moles/volume] in DBS

Part Descriptions

LP28986-5 3-Hydroxypalmitoleylcarnitine (C16:1-OH)
3-Hydroxypalmitoleylcarnitine is a primary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: 3-Hydroxypalmitoleylcarnitine (C16:1-OH)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 3OH-Palmitoleylcarn DBS-sCnc
Display Name: C16:1-OH (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C16:1-OH, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.22
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 17957

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	3-hidroxipalmitoleilcarnitina (C16:1-OH):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	3-hidroxipamitoleilcarnitina (C16:1-OH):Concentración de sustancias:Punto temporal:DBS:Cuantitativo
et-EE	Estonian (Estonia)	3-hüdroksüpalmitoleüülkarnitiin (C16:1-OH):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	3-hydroxypalmitoléylcarnitine (C16:1-OH):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	3-hydroxypalmitoleylcarnitine (C16:1-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	3-hydroxypalmitoleylcarnitine (C16:1-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	3-Idrossipalmitoleilcarnitina (C16:1-OH):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	3-hydroxypalmitoleylcarnitine (C16:1-OH):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	3-Hidroxipalmitoleilcarnitina (C16:1-OH):SCnc:Pt:SgPapel:Qn: Synonyms: ; 3OH-Palmitoleylcarn; 3-Hydroxy palmitoleylcarnitine; C16:1OH; 3-hydroxy-hexadecenoylcarnitine; 3-hydroxyhexadecenoylcarnitine; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; I; Chemistry
ru-RU	Russian (Russian Federation)	3-Гидроксипальмитолеилкарнитин (C16:1-OH):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	3-Hidroksipalmitoleilkarnitin (C16:1-OH):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	3-羟基棕榈烯酰肉碱 (C16:1-OH):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Ⅰ 3-羟基棕榈烯酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C16:1-OH);3OH-棕榈烯酰肉碱;3-羟基十六烯酰基肉碱;3-羟基十六烯酰肉碱;3-羟基十六烯酰肉碱, C16:1-OH;3-羟基棕榈烯酰基肉碱;3-羟基棕榈烯酰肉碱, C16:1-OH;C16:1OH;C16:1-OH Ⅲ I III 三克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

50125-4 3-Hydroxypalmitoylcarnitine (C16-OH) [Moles/volume] in DBS

Part Descriptions

LP19326-5 3-Hydroxypalmitoylcarnitine (C16-OH)
3-Hydroxypalmitoylcarnitine is a primary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: 3-Hydroxypalmitoylcarnitine (C16-OH)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 3OH-Palmitoylcarn DBS-sCnc
Display Name: C16-OH (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C16-OH, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.22
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 17963

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	3-Hidroxipalmitoilcarnitina (C16-OH):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	3-hidroxipamitoilcarnitina (C16-OH):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	3-hüdroksüpalmitoüülkarnitiin (C16-OH):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	3-hydroxypalmitoylcarnitine (C16-OH):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	3-hydroxypalmitoylcarnitine (C16-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	3-hydroxypalmitoylcarnitine (C16-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	3-Idrossipalmitoilcarnitina (C16-OH):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	3-hydroxypalmitoylcarnitine (C16-OH):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	3-Hidroxipalmitoilcarnitina (C16-OH):SCnc:Pt:SgPapel:Qn: Synonyms: ; 3OH-Palmitoylcarn; C16OH; 3-hydroxy-hexadecanoylcarnitine; 3-hydroxy-palmitoylcarnitine; 3-hydroxyhexadecanoylcarnitine; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	3-Гидроксипальмитоилкарнитин (C16-OH):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	3-Hidroksipalmitoilkarnitin (C16-OH):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	3-羟基棕榈酰肉碱 (C16-OH):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 3-羟基棕榈酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C16-OH);3OH-棕榈酰肉碱;3-羟基十六烷酰基肉碱;3-羟基十六烷酰肉碱;3-羟基十六烷酰肉碱, C16-OH;3-羟基棕榈酰基肉碱;3-羟基棕榈酰肉碱, C16-OH;C16OH;C16-OH Ⅲ III 三克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53201-0 3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS

Term Description

3-Hydroxypalmitoylcarnitine/Palmitoylcarnitine is a primary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC

Part Descriptions

LP19326-5 3-Hydroxypalmitoylcarnitine (C16-OH)
3-Hydroxypalmitoylcarnitine is a primary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency. Source: Regenstrief LOINC

LP70162-0 Palmitoylcarnitine (C16)
Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Carnitine uptake defect. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: 3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 3OH-Palmitoylcarn/C16 DBS-sRto
Display Name: C16-OH/Palmitoylcarnitine (C16) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C16-OH/Palmitoylcarnitine (C16), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 19471

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	3-Hidroxipalmitoilcarnitina (C16-OH)/Palmitoilcarnitina (C16):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	3-Hydroxypalmitoylcarnitine (C16-OH) / Palmitoylcarnitine (C16):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	3-hydroxypalmitoylcarnitine (C16-OH)/palmitoylcarnitine (C16):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	3-hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	3-hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	3-Idrossipalmitoilcarnitina (C16-OH)/Palmitoilcarnitina (C16):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	3-hydroxypalmitoylcarnitine (C16-OH)/palmitoylcarnitine (C16):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	3-Hidroxipalmitoilcarnitina (C16-OH/Palmitoilcarnitina (C16):SCrto:Pt:SgPapel:Qn: Synonyms: ; 3OH-Palmitoylcarn; C16OH; 3-hydroxy-hexadecanoylcarnitine; 3-hydroxy-palmitoylcarnitine; 3-hydroxyhexadecanoylcarnitine; Palmitoylcarn; Hexadecanoylcarnitine; 3OH-Palmitoylcarn; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	3-Гидроксипальмитоилкарнитин (C16-OH)/Пальмитоилкарнитин (C16):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	3-Hidroksipalmitoilkarnitin (C16-OH)/Palmitoilkarnitin (C16):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	3-羟基棕榈酰肉碱 (C16-OH)/棕榈酰肉碱 (C16):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 3-羟基棕榈酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C16-OH);3OH-棕榈酰肉碱;3-羟基十六烷酰基肉碱;3-羟基十六烷酰肉碱;3-羟基十六烷酰肉碱, C16-OH;3-羟基棕榈酰基肉碱;3-羟基棕榈酰肉碱, C16-OH;C16OH;C16-OH Ⅲ III 三全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间棕榈酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C16);C16 棕榈酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C16);C16;十六烷酰肉碱;十六醛肉碱;棕榈酰肉碱, C16;棕榈醛肉碱物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

45217-7 Linoleoylcarnitine (C18:2) [Moles/volume] in DBS

Part Descriptions

LP19327-3 Linoleoylcarnitine (C18:2)
Linoleoylcarnitine is a primary marker for Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, and Carnitine uptake defect. Source: Regenstrief Institute

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Linoleoylcarnitine (C18:2)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Linoleoylcarn DBS-sCnc
Display Name: C18:2 (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C18:2, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.17
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 12124

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Linoleoilcarnitina (C18:2):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Linoleoilcarnitina (C18:2):Concentración de sustancias:Punto temporal:DBS:Cuantitativo
et-EE	Estonian (Estonia)	Linoleoüülkarnitiin (C18:2):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Linoléoylcarnitine (C18:2):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Linoleoylcarnitine (C18:2):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Linoleoylcarnitine (C18:2):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Linoleoilcarnitina (C18:2):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	linoleoylcarnitine (C18:2):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Linoleoilcarnitina (C18:2):SCnc:Pt:SgPapel:Qn: Synonyms: ; Linoleoylcarn; Linoleylcarnitine; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; II; Chemistry
ru-RU	Russian (Russian Federation)	Линоленоилкарнитин (C18:2):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Linoleoilkarnitin (C18:2):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	亚油酰肉碱 (C18:2):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Ⅱ II 亚油酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C18:2);C18:2;亚油酰基肉碱;亚油酰肉碱, C18:2 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53202-8 Oleoylcarnitine (C18:1) [Moles/volume] in DBS

Part Descriptions

LP19328-1 Oleoylcarnitine (C18:1)
Oleoylcarnitine is a primary marker for Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, and Carnitine uptake defect. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Oleoylcarnitine (C18:1)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Oleoylcarn DBS-sCnc
Display Name: C18:1 (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C18:1, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 12270

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Oleoilcarnitina (C18:1):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Oleoilcarnitina (C18:1):Concentración de sustancias:Punto temporal:DBS:Cuantitativo
et-EE	Estonian (Estonia)	Oleoüülkarnitiin (C18:1):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Oléoylcarnitine (C18:1):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Oléoylcarnitine (C18:1):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Oléoylcarnitine (C18:1):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Oleoilcarnitina (C18:1):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	oleoylcarnitine (C18:1):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Oleoilcarnitina (C18:1):SCnc:Pt:SgPapel:Qn: Synonyms: ; Oleoylcarn; Octadecenoylcarnitine; Octadecenoyl carnitine; Oleoyl carnitine; Oleyl carnitine; Oleylcarnitine; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; I; Chemistry
ru-RU	Russian (Russian Federation)	Олеоилкарнитин (C18:1):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Oleoilkarnitin (C18:1):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	油酰肉碱 (C18:1):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Ⅰ I 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间油酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C18:1);C18:1;油酰基肉碱;油酰肉碱, C18:1 血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53241-6 Stearoylcarnitine (C18) [Moles/volume] in DBS

Part Descriptions

LP29115-0 Stearoylcarnitine (C18)
Stearoylcarnitine is a primary marker for Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, and Carnitine uptake defect. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Stearoylcarnitine (C18)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Stearoylcarn DBS-sCnc
Display Name: C18 (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C18, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 19549

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Estearoilcarnitina (C18):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Estearoilcarnitina (C18):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Stearoüülkarnitiin (C18):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Stéaroylcarnitine (C18):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Stéaroylcarnitine (C18):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Stéaroylcarnitine (C18):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Stearoilcarnitina (C18):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	stearoylcarnitine (C18):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Estearoilcarnitina (C18):SCnc:Pt:SgPapel:Qn: Synonyms: ; Stearoylcarn; Steroylcarnitine; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Стеароилкарнитин (C18):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Stearoilkarnitin (C18):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	硬脂酰肉碱 (C18):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间硬脂酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C18);C18;十八烷酰基肉碱;十八烷酰肉碱;十八烷酰肉碱, C18;硬脂酰基肉碱;硬脂酰肉碱, C18 血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53400-8 Stearoylcarnitine (C18)/Propionylcarnitine (C3) [Molar ratio] in DBS

Part Descriptions

LP29115-0 Stearoylcarnitine (C18)
Stearoylcarnitine is a primary marker for Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, and Carnitine uptake defect. Source: Regenstrief LOINC

LP70306-3 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Stearoylcarnitine (C18)/Propionylcarnitine (C3)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Stearoylcarn/C3 DBS-sRto
Display Name: C18/Propionylcarnitine (C3) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C18/Propionylcarnitine (C3), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.70
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Estearoilcarnitina (C18)/Propionilcarnitina (C39:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Estearoilcarnitina (C18) / Propionilcarnitina (C3):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Stéaroylcarnitine (C18)/propionylcarnitine (C3):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Stéaroylcarnitine (C18)/Propionylcarnitine (C3):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Stéaroylcarnitine (C18)/Propionylcarnitine (C3):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Stearoilcarnitina (C18)/Propionilcarnitina (C3):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	stearoylcarnitine (C18)/propionylcarnitine (C3):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Estearoilcarnitina (C18)/Propionilcarnitina (C3):SCrto:Pt:SgPapel:Qn: Synonyms: ; Stearoylcarn; Steroylcarnitine; Propionylcarn; Propanoylcarnitine; C3-carntitine; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Стеароилкарнитин (C18)/Пропионилкарнитин (C3):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Stearoilkarnitin (C18)/Propiyonilkarnitin (C3):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	硬脂酰肉碱 (C18)/丙酰肉碱 (C3):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 丙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3);C3;C3-肉碱;丙酰基肉碱;丙酰肉碱, C3 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值硬脂酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C18);C18;十八烷酰基肉碱;十八烷酰肉碱;十八烷酰肉碱, C18;硬脂酰基肉碱;硬脂酰肉碱, C18 血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

50109-8 3-Hydroxylinoleoylcarnitine (C18:2-OH) [Moles/volume] in DBS

Part Descriptions

LP19329-9 3-Hydroxylinoleoylcarnitine (C18:2-OH)
3-Hydroxylinoleoylcarnitine is a secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: 3-Hydroxylinoleoylcarnitine (C18:2-OH)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 3OH-Linoleoylcarn DBS-sCnc
Display Name: C18:2-OH (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C18:2-OH, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.22
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	3-Hidroxilinoleoilcarnitina (C18:2-OH):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	3-hidroxilinoleoilcarnitina (C18:2-OH):Concentración de sustancias:Punto temporal:DBS:Cuantitativo
et-EE	Estonian (Estonia)	3-hüdroksülinoleoüülkarnitiin (C18:2-OH):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	3-hydroxylinoléoylcarnitine (C18:2-OH):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	3-Hydroxylinoleoylcarnitine (C18:2-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	3-hydroxylinoleoylcarnitine (C18:2-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	3-Idrossilinoleoilcarnitina (C18:2-OH):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	3-hydroxylinoleoylcarnitine (C18:2-OH):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	3-Hidroxilinoleoilcarnitina (C18:2-OH):SCnc:Pt:SgPapel:Qn: Synonyms: ; 3OH-Linoleoylcarn; 3-hydroxylinoleylcarnitine; C18:2OH; 3-hydroxy-linoleoylcarnitine; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; II; Chemistry
ru-RU	Russian (Russian Federation)	3-Гидроксилинолеоилкарнитин (C18:2-OH):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	3-Hidroksilinoleoilkarnitin (C18:2-OH):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	3-羟基亚油酰肉碱 (C18:2-OH):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Ⅱ 3-羟基亚油酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C18:2-OH);3OH-亚油酰肉碱;3-羟基亚油酰基肉碱;3-羟基-亚油酰基肉碱;3-羟基-亚油酰肉碱;3-羟基-亚油酰肉碱, C18:2-OH;3-羟基亚油酰肉碱, C18:2-OH;C18:2OH;C18:2-OH Ⅲ II III 三克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

50113-0 3-Hydroxyoleoylcarnitine (C18:1-OH) [Moles/volume] in DBS

Part Descriptions

LP19330-7 3-Hydroxyoleoylcarnitine (C18:1-OH)
3-Hydroxyoleoylcarnitine is a primary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: 3-Hydroxyoleoylcarnitine (C18:1-OH)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 3OH-Oleoylcarn DBS-sCnc
Display Name: C18:1-OH (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C18:1-OH, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.22
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 17953

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	3-Hidroxioleoilcarnitina (C18:1-OH):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	3-hidroxioleoilcarnitina (C18:1-OH):Concentración de sustancias:Punto temporal:DBS:Cuantitativo
et-EE	Estonian (Estonia)	3-hüdroksüoleüülkarnitiin (C18:1-OH):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	3-hydroxyoléoylcarnitine (C18:1-OH):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	3-hydroxyoléoylcarnitine (C18:1-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	3-hydroxyoléoylcarnitine (C18:1-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	3-Idrossioleoilcarnitina (C18:1-OH):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	3-hydroxyoleoylcarnitine (C18:1-OH):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	3-Hidroxioleoilcarnitina (C18:1-OH):SCnc:Pt:SgPapel:Qn: Synonyms: ; 3OH-Oleoylcarn; 3-hydroxyoleylcarnitine; C18:1OH; 3-hydroxy-oleoylcarnitine; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; I; Chemistry
ru-RU	Russian (Russian Federation)	3-Гидроксиолеоилкарнитин (C18:1-OH):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	3-Hidroksioleoilkarnitin (C18:1-OH):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	3-羟基油酰肉碱 (C18:1-OH):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Ⅰ 3-羟基油酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C18:1-OH);3OH-油酰肉碱;3-羟基油酰基肉碱;3-羟基-油酰基肉碱;3-羟基-油酰肉碱;3-羟基-油酰肉碱, C18:1-OH;3-羟基油酰肉碱, C18:1-OH;C18:1OH;C18:1-OH Ⅲ I III 三克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

50132-0 3-Hydroxystearoylcarnitine (C18-OH) [Moles/volume] in DBS

Part Descriptions

LP33294-7 3-Hydroxystearoylcarnitine (C18-OH)
3-Hydroxystearoylcarnitine is a primary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: 3-Hydroxystearoylcarnitine (C18-OH)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 3OH-stearoylcarn DBS-sCnc
Display Name: C18-OH (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C18-OH, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.22
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 17969

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	3-Hidroxiestearoilcarnitina (C18-OH):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	3-hidroxiesteaaroilcarnitina (C18-OH):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	3-hüdroksüstearoüülkarnitiin (C18-OH):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	3-hydroxystéaroylcarnitine (C18-OH):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	3-hydroxystéaroylcarnitine (C18-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	3-hydroxystéaroylcarnitine (C18-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	3-Idrossistearoilcarnitina (C18-OH):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	3-hydroxystearoylcarnitine (C18-OH):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	3-Hidroxiestearoilcarnitina (C18-OH)/:SCnc:Pt:SgPapel:Qn: Synonyms: ; 3OH-stearoylcarn; 3-OH-stearoylcarnitine; C18OH; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	3-Гидроксистеароилкарнитин (C18-OH):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	3-Hidroksistearoilkarnitin (C18-OH):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	3-羟基硬脂酰肉碱 (C18-OH):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 3-羟基硬脂酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C18-OH);3-OH-十八烷酰基肉碱;3-OH-十八烷酰肉碱;3-OH-十八烷酰肉碱, C18;3-OH-硬脂酰肉碱;3OH-硬脂酰肉碱;3-羟基十八烷酰基肉碱;3-羟基-十八烷酰基肉碱;3-羟基十八烷酰肉碱;3-羟基-十八烷酰肉碱;3-羟基十八烷酰肉碱, C18;3-羟基-十八烷酰肉碱, C18;3-羟基硬脂酰基肉碱;3-羟基硬脂酰肉碱, C18;C18OH;C18-OH Ⅲ III 三克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53836-3 ABCD1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

Part Descriptions

LP71403-7 ABCD1 gene
The ABCD1 gene (ATP-binding cassette, sub-family D (ALD), member 1) [HGNC Gene ID:61] is located on chromosome Xq28. The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008] [NCBI Gene ID:215] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component: ABCD1 gene targeted mutation analysis
Property: Find
Time: Pt
System: Bld/Tiss
Scale: Doc
Method: Molgen

Additional Names

Short Name: ABCD1 gene Mut Anl Bld/T
Display Name: ABCD1 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info: ABCD1 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.26
Last Updated: Version 2.66
Change Reason: Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Gen ABCD1 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen ABCD1:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR	French (France)	ABCD1 gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT	Italian (Italy)	ABCD1, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen Synonyms: Gene ABCD1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL	Dutch (Netherlands)	ABCD1-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek Synonyms: ABCD1 gen molgen targeted
pt-BR	Portuguese (Brazil)	ABCD1 análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular Synonyms: AcC42; ATP-binding cassette, sub-family D; Adrenoleukodystrophy protein; ALDPALDP; AMN; ALD; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU	Russian (Russian Federation)	ABCD1 ген исследование на мутацию:Находка:ТчкВрм:Кр/Тк:Док:МолГен Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TR	Turkish (Turkey)	ABCD1 geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN	Chinese (China)	ABCD1 基因突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法 Synonyms: ATP结合转运子超家族成员D1基因;肾上腺脑白质营养不良;adrenoleukodystrophy;ALD 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书全血或组织;血液/组织;血液或组织分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变分子病理学;分子病理学试验分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论基因突变分析时刻;随机;随意;瞬间未作说明的组织;组织;组织 & 涂片血;血液遗传基因;遗传因子;吉恩;生物基因

57085-3 Organic acid newborn screen panel

Term Description

Newborn screening dried blood spot analysis by tandem mass spectrometry (MS/MS) requires pre-processing the specimen with one of two alternative reagent methods referred to as derivatized and non-derivatized (or underivatized) methods. The methods are similar and nearly all analytes and ratios are identical with the limited number of exceptions noted in the description of the LOINC codes. Some labs choose to use the non-derivatized method because it may be faster or less expensive for their operations. There are no analytes which would be interpreted differently based on the method used to process the specimen so there is no need for different LOINC codes for the same compounds based on the reagents. In a few cases, a different LOINC code is used for the derivatized or non-derivatized tandem mass spectrometry (MS/MS) method because based on the reagents used in processing, different analytes are measured or different sets of analytes become isobaric, which means that they cannot be distinguished on the MS/MS because they have the same molecular weight after reagent processing.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Organic acid newborn screen panel
Property: -
Time: Pt
System: Bld.dot
Scale: -
Method

Additional Names

Short Name: OA NB scn pnl DBS
Display Name: Organic acid NBS panel (DBS)
Consumer Name Alpha Get Info: Organic Acid NBS Panel, Dried blood spot

Basic Attributes

Class: PANEL.CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.77
Order vs. Observation: Order
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Panel de cribado de ácidos orgánicos en el recién nacido:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX	Spanish (Mexico)	Panel de monitoreo de ácido orgánico para recién nacidos:-:Punto temporal:DBS:-:
fr-FR	French (France)	Acides organiques dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT	Italian (Italy)	Acidi organici, panel screening neonatale:-:Pt:Sangue.su carta da filtro:-: Synonyms: Chimica Panel screening neonatale degli acidi organici Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL	Dutch (Netherlands)	organische zuren pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
pt-BR	Portuguese (Brazil)	Ácidos Orgânicos, triagem neonatal, painel:#N/A:Pt:SgPapel:-: Synonyms: ; OA NB scn pnl; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Scr; Scn; Scrn; Pnl; Pan; Panl; New born; Acd; Acids; PANEL.CHEMISTRY; PANEL.CHEMISTRY; Chemistry
ru-RU	Russian (Russian Federation)	Органические кислоты новорождённый скрин панель:-:ТчкВрм:Кр.Сух.капл:-: Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN	Chinese (China)	有机酸新生儿筛查组套:-:时间点:全血.斑点:-: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类时刻;随机;随意;瞬间有机酸新生儿筛查组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;新生儿有机酸筛查医嘱组;有机酸新生儿筛查组套;有机酸新生儿筛查组合检验医嘱组合类检验项目医嘱组合类检验项目组合类筛查筛查试验筛选试验组组合组合医嘱组合类组套血;血液过筛过筛试验酸

46744-9 Organic acidemias newborn screen interpretation

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Organic acidemias
Property: Imp
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: OA DBS-Imp
Display Name: Organic acidemias (DBS) [Interp]
Consumer Name Alpha Get Info: Organic acidemias, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.19
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation
Common Test Rank Get Info: 1324

Preferred Answer List LL840-0

Answer	Code	Score	Answer ID
In range			LA18592-8
Borderline			LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)			LA11884-6
Out of range			LA18593-6
Out of range requiring further dried blood spot testing for at least one condition			LA12430-7
Out of range requiring immediate referral			LA25817-0
Out of range requiring immediate second-tier testing for at least one condition			LA12431-5
Out of range requiring deferred follow-up for at least one condition			LA18594-4
One or more tests pending			LA16204-2
Specimen unsatisfactory for at least one condition			LA16205-9

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Acidemias orgánicas:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Acidemias orgánicas:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Acidémie organiques:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE	French (Belgium)	Acidémies organiques:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-CA	French (Canada)	Acidémies organiques:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Acidemie organiche:Imp:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	organische acidemieën:interpretatie:moment:gedroogde bloedspot:nominaal:
pt-BR	Portuguese (Brazil)	Acidemias orgânicas:Imp:Pt:SgPapel:Nom: Synonyms: ; OA; Interpretation; Interp; Impression; Impressions; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; Chemistry
ru-RU	Russian (Russian Federation)	Органические ацидемии:Впчт:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Organik asidemiler:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	有机酸血症:印象:时间点:全血.斑点:名义型: Synonyms: OA;Organic Acidemias;有机酸血症类全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释时刻;随机;随意;瞬间血;血液

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

57791-6 Organic acidemia conditions suspected [Identifier] in DBS

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Organic acidemia conditions suspected
Property: Prid
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: OA conditions suspected DBS
Display Name: Organic acidemia conditions suspected Nom (DBS)
Consumer Name Alpha Get Info: Organic acidemia conditions suspected, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.61
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation

Preferred Answer List LL839-2

Answer	Code	Answer ID
None Copyright http://snomed.info/sct ID:260413007 None (qualifier value)		LA137-2
2M3HBA or BKT-2		LA12577-5
Glutaric acidemia type I Copyright http://snomed.info/sct ID:76175005 Glutaric aciduria, type 1 (disorder)		LA12493-5
IVA or 2MBG or GA-2 or EMA		LA12578-3
Malonic acidemia Copyright http://snomed.info/sct ID:124594007 Deficiency of malonyl-coenzyme A decarboxylase (disorder)		LA12508-0
PROP or CBL A or CBL B or MUT or CBL C or MCD		LA12579-1
2-Methyl-3-hydroxybutyric aciduria Copyright http://snomed.info/sct ID:791000124107 2-methyl-3-hydroxybutyric aciduria (disorder)	2M3HBA	LA12464-6
2-Methylbutyrylglycinuria Copyright http://snomed.info/sct ID:445596006 2-methylbutyrylglycinuria (disorder)		LA12465-3
3-Hydroxy-3-methylglutaric aciduria Copyright http://snomed.info/sct ID:410059004 Hydroxymethylglutaric aciduria (disorder)		LA12499-2
3-Methylcrotonyl-CoA carboxylase deficiency Copyright http://snomed.info/sct ID:13144005 Methylcrotonyl-coenzyme A carboxylase deficiency (disorder)		LA12466-1
Beta-ketothiolase deficiency Copyright http://snomed.info/sct ID:237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder)		LA12474-5
Ethylmalonic encephalopathy Copyright http://snomed.info/sct ID:723307008 Ethylmalonic encephalopathy (disorder)		LA12491-9
Formiminoglutamic acidemia Copyright http://snomed.info/sct ID:59761008 Glutamate formiminotransferase deficiency (disorder)		LA12492-7
Isobutyrylglycinuria Copyright http://snomed.info/sct ID:445571008 Isobutyrylglycinuria (disorder)		LA12504-9
Isovaleric acidemia Copyright http://snomed.info/sct ID:87827003 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder)		LA12505-6
3-Methylcrotonyl-CoA carboxylase deficiency (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder)		LA12467-9
Cobalamin A disease Copyright http://snomed.info/sct ID:73843004 Cobalamin A disease (disorder)		LA12476-0
Cobalamin B disease Copyright http://snomed.info/sct ID:82245003 Cobalamin B disease (disorder)		LA12477-8
Methylmalonic acidemia Copyright http://snomed.info/sct ID:124680001 Deficiency of methylmalonyl-coenzyme A mutase (disorder)		LA12515-5
Cobalamin C disease Copyright http://snomed.info/sct ID:74653006 Cobalamin C disease (disorder)		LA12478-6
Cobalamin D disease Copyright http://snomed.info/sct ID:31220004 Cobalamin D disease (disorder)		LA12479-4
Holoocarboxylase synthase deficiency Copyright http://snomed.info/sct ID:360369003 Holocarboxylase synthase deficiency (disorder)		LA12510-6
Primary lactic acidemia Copyright http://snomed.info/sct ID:190882007 Lactic acidemia (disorder)		LA12506-4
Propionic acidemia Copyright http://snomed.info/sct ID:69080001 Propionic acidemia (disorder)		LA12523-9
Succinyl-CoA ligase deficiency Copyright http://snomed.info/sct ID:445275003 Deficiency of succinate-coenzyme A ligase (disorder)		LA12526-2
3-MCC or 3-MCC (mat) or 3MGA or BKT or HMG or MCD or BIO		LA12915-7
GA-1 or GA-2		LA12917-3

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Sospecha de estado de acidemia orgánica:Presencia o identidad:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Sospecha de condiciones de acidemia orgánica:Presencia o identidad:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Acidémie organiques suspectées:Identification:Ponctuel:Sang buvard:Résultat nominal:
it-IT	Italian (Italy)	Acidemia organica, condizioni sospette:Prid:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Condizioni sospette di acidemia organica Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	organische acidemie aandoeningen vermoed:identificator:moment:gedroogde bloedspot:nominaal:
pt-BR	Portuguese (Brazil)	Condições acidemia orgânica suspeita:Ident:Pt:SgPapel:Nom: Synonyms: ; OA conditions suspected; Identity or presence; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; Chemistry
ru-RU	Russian (Russian Federation)	Органическая ацидемия состояния заподозрены:ПрИд:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Кровь Кровь сухая капля Номинальный;Именной Органическая ацидурия состояния заподозрены Присутствие или Идентификация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Organik asidemi koşulları şüphelenilen:MevcKimlik:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	所怀疑的有机酸血症情况:存在与否或特征标识:时间点:全血.斑点:名义型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类存在;存在与否;特征标识;身份;身份标识所怀疑的有机酸血症;已怀疑的有机酸血症时刻;随机;随意;瞬间血;血液

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

57708-0 Organic acidemias defects newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Organic acidemias defects newborn screening comment-discussion
Property: Txt
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: OA defects NBS comment
Display Name: Organic acidemias defects newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info: Organic acidemias defects newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.42
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Defecto de acidemias orgánicas screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX	Spanish (Mexico)	Acidemias orgánicas defectos cribado neonatal comentario-discusión:Texto:Punto temporal:DBS:Narrativo:
fr-FR	French (France)	Acidémie organiques déficit dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
it-IT	Italian (Italy)	Acidemie organiche, difetti , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica Commento/discussione di screening neonatale per difetti di acidemia organica Difetti di acidemie organiche Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL	Dutch (Netherlands)	organische acidemie afwijking screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
pt-BR	Portuguese (Brazil)	Defeitos de acidemias orgânicas na triagem neonatal comentários-discussão:#N/A:Pt:SgPapel:Nar: Synonyms: ; OA defects NBS comment/discussion; Remarks; Text; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Narrative; Report; SCN; Asymptomatic; Asympt; New born; Com; Comm; Commt; Comments; cmnt; cmmt; Chemistry
ru-RU	Russian (Russian Federation)	Органическая ацидемия дефекты новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR	Turkish (Turkey)	Organik asidemi eksiklikleri yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN	Chinese (China)	有机酸血症缺陷新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型: Synonyms: Asympt OA;Organic Acidemias;有机酸血症类 SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型备注备注;评论;注解;说明;评语意见文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验有机酸血症缺陷新生儿筛查注释/讨论注解短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验血;血液解说解释评定评注评论评语说明

50157-7 Acetylcarnitine (C2) [Moles/volume] in DBS

Part Descriptions

LP19301-8 Acetylcarnitine (C2)
An acetic acid ester of CARNITINE that facilitates movement of ACETYL COA into the matrices of mammalian MITOCHONDRIA during the oxidation of FATTY ACIDS. Source: National Library of Medicine, MeSH 2006

LP19301-8 Acetylcarnitine (C2)
Acetylcarnitine is a primary marker for Carnitine uptake defect. Secondary marker for Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency, Maternal carnitine uptake defect, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, Formiminoglutamic acidemia, and Succinyl-CoA ligase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Acetylcarnitine (C2)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Acetylcarn DBS-sCnc
Display Name: C2 (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C2, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.22
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 17972

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Acetilcarnitina (C2):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Acetilcarnitina (C2):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Atsetüülkarnitiin (C2):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Acétylcarnitine (C2):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Acétylcarnitine (C2):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Acétylcarnitine (C2):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Acetilcarnitina (C2):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	acetylcarnitine (C2):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Acetilcarnitina (C2):SCnc:Pt:SgPapel:Qn: Synonyms: ; Acetylcarn; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Ацетилкарнитин (C2):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Asetilkarnitin (C2):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	乙酰肉碱 (C2):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 乙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C2);C2;乙酰肉毒碱;乙酰肉毒碱, C2;乙酰肉碱, C2 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53237-4 Acrylylcarnitine (C3:1) [Moles/volume] in DBS

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Acrylylcarnitine (C3:1)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Acrylylcarn DBS-sCnc
Display Name: C3:1 (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C3:1, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.70
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Acrililcarnitina (C3:1):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Acrililcarnitina (C3:1):Concentración de sustancias:Punto temporal:DBS:Cuantitativo
et-EE	Estonian (Estonia)	Akrülüülkarnitiin (C3:1):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Acrylylcarnitine (C3:1):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Acrylylcarnitine (C3:1):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Acrylylcarnitine (C3:1):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Acrililcarnitina (C3:1):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	acrylylcarnitine (C3:1):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Acrililcarnitina (C3:1):SCnc:Pt:SgPapel:Qn: Synonyms: ; Acrylylcarn; Propenoylcarnitine; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; I; Chemistry
ru-RU	Russian (Russian Federation)	Акрилилкарнитин (C3:1):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Akrililkarnitin (C3:1):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	丙烯酰肉碱 (C3:1):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Ⅰ I 丙烯酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3:1);丙烯酰肉毒碱 (C3:1);丙烯酰基肉碱 (C3:1);丙烯酰基肉毒碱 (C3:1) 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53160-8 Propionylcarnitine (C3) [Moles/volume] in DBS

Part Descriptions

LP19303-4 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Propionylcarnitine (C3)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Propionylcarn DBS-sCnc
Display Name: C3 (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C3, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 18808

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Propionilcarnitina (C3):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Propionilcarnitina (C3):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Propionüülkarnitiin (C3):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Propionylcarnitine (C3):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Propionylcarnitine (C3):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Propionylcarnitine (C3):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Propionilcarnitina (C3):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	propionylcarnitine (C3):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Propionilcarnitina (C3):SCnc:Pt:SgPapel:Qn: Synonyms: ; Propionylcarn; Propanoylcarnitine; C3-carntitine; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Пропионилкарнитин (C3):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Propiyonilkarnitin (C3):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	丙酰肉碱 (C3):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 丙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3);C3;C3-肉碱;丙酰基肉碱;丙酰肉碱, C3 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53161-6 Propionylcarnitine (C3)/Methionine [Molar ratio] in DBS

Term Description

Propionylcarnitine/Methionine is a secondary marker for Methylmalonic aciduria and homocystinuria.
Source: Regenstrief LOINC

Propionylcarnitine/Palmitoylcarnitine is a primary marker for Secondary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, Succinyl-CoA ligase deficiency, and Multiple carboxylase deficiency.
Source: Regenstrief LOINC

Part Descriptions

LP19303-4 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency. Source: Regenstrief LOINC

LP70164-6 Methionine
Methionine is an essential nonpolar amino acid, and a lipotropic. Methionine and cysteine are the only sulfur-containing proteinogenic amino acids. The methionine derivative S-adenosyl methionine (SAM) serves as a methyl donor. Methionine plays a role in cysteine, carnitine and taurine synthesis by the transsulfuration pathway, lecithin production, the synthesis of phosphatidylcholine and other phospholipids. Improper conversion of methionine can lead to atherosclerosis. Methionine, a chelating agent, is one of only two amino acids encoded by a single codon (AUG) in the standard genetic code (tryptophan, encoded by UGG, is the other). The codon AUG is also significant, in that it carries the Start message for a ribosome to begin protein translation from mRNA. As a consequence, methionine is incorporated into the N-terminal position of all proteins in eukaryotes and archaea during translation, although it is usually removed by post-translational modification. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Methionine (Wikipedia)

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Propionylcarnitine (C3)/Methionine
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Propionylcarn/Methionine DBS-sRto
Display Name: C3/Methionine (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C3/Methionine, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.61
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Propionilcarnitina (C3)/Metionina:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Propionilcarnitina (C3) / Metionina:Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Propionylcarnitine (C3)/méthionine:Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Propionylcarnitine (C3)/Méthionine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Propionylcarnitine (C3)/Méthionine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Propionilcarnitina (C3)/Metionina:Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	propionylcarnitine (C3)/methionine:molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Propionilcarnitina (C3)/Metionina:SCrto:Pt:SgPapel:Qn: Synonyms: ; Propionylcarn; Propanoylcarnitine; C3-carntitine; Met; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Пропионилкарнитин (C3)/Метионин:МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Propiyonilkarnitin (C3)/Metiyonin:SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	丙酰肉碱 (C3)/蛋氨酸:物质的量比率:时间点:全血.斑点:定量型: Synonyms: Met;甲硫基丁氨酸;甲硫氨酸 Met;甲硫氨酸丙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3);C3;C3-肉碱;丙酰基肉碱;丙酰肉碱, C3 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53162-4 Propionylcarnitine (C3)/Carnitine.free (C0) [Molar ratio] in DBS

Term Description

Propionylcarnitine/Carnitine.free is a secondary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, Succinyl-CoA ligase deficiency, and Multiple carboxylase deficiency.
Source: Regenstrief LOINC

Part Descriptions

LP19303-4 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency. Source: Regenstrief LOINC

LP32015-7 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Propionylcarnitine (C3)/Carnitine.free (C0)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Propionylcarn/C0 DBS-sRto
Display Name: C3/Carnitine.free (C0) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C3/Free Carnitine (C0), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Propionilcarnitina (C3)/Carnitina libre:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Propionilcarnitina (C3) / Carnitina.libre (C0):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Propionylcarnitine (C3)/carnitine libre (C0):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Propionylcarnitine (C3)/Carnitine.libre (C0):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Propionylcarnitine (C3)/Carnitine.libre (C0):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Propionilcarnitina (C3)/Carnitina.libera (C0):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	propionylcarnitine (C3)/carnitine.vrij (C0):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Propionilcarnitina (C3)/Carnitina.livre (C0):SCrto:Pt:SgPapel:Qn: Synonyms: ; Propionylcarn; Propanoylcarnitine; C3-carntitine; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; FR; Non-protein bound; Chemistry
ru-RU	Russian (Russian Federation)	Пропионилкарнитин (C3)/Карнитин.свободный(С0):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Propiyonilkarnitin (C3)/Karnitin.serb (C0):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	丙酰肉碱 (C3)/肉碱.游离型 (C0):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 丙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3);C3;C3-肉碱;丙酰基肉碱;丙酰肉碱, C3 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间游离物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）.游离型 (C0);肉毒碱.游离型 (C0) 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）.游离型 (C0);肉毒碱.游离型 (C0);三甲基羟基丁酰甜菜碱.游离型 (C0);游离三甲基羟基丁酰甜菜碱 (C0);游离型三甲基羟基丁酰甜菜碱 (C0);游离型肉毒碱 (C0);游离型肉碱 (C0);游离肉毒碱 (C0);游离肉碱 (C0);肉碱.游离型 (C0) 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）;三甲基羟基丁酰甜菜碱;卡尼丁;总肉毒碱;总肉碱;肉毒碱;肉毒碱.总;肉毒碱.总计;肉碱.总;肉碱.总计血;血液非蛋白结合型非蛋白质结合型

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53163-2 Propionylcarnitine (C3)/Acetylcarnitine (C2) [Molar ratio] in DBS

Term Description

Propionylcarnitine/Acetylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (Cbl A, B), Multiple carboxylase deficiency, Methylmalonic aciduria and homocystinuria. Secondary marker for Succinyl-CoA ligase deficiency.
Source: Regenstrief LOINC

Part Descriptions

LP19303-4 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency. Source: Regenstrief LOINC

LP70165-3 Acetylcarnitine (C2)
Acetyl-L-carnitine or ALCAR, is an acetylated form of L-carnitine. ALCAR has been claimed to be superior to normal L-carnitine in terms of bioavailability. However, at least one study has suggested that the acetylated form may have a lower oral bioavailability. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Acetylcarnitine

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Propionylcarnitine (C3)/Acetylcarnitine (C2)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Propionylcarn/C2 DBS-sRto
Display Name: C3/Acetylcarnitine (C2) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C3/Acetylcarnitine (C2), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 18646

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Propionilcarnitina (C3)/Acetilcarnitina (C2):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Propionilcarnitina (C3) / Acetilcarnitina (C2):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Propionylcarnitine (C3)/acétylcarnitine (C2):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Propionylcarnitine (C3)/Acétylcarnitine (C2):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Propionylcarnitine (C3)/Acétylcarnitine (C2):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Propionilcarnitina (C3)/Acetilcarnitina (C2):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	propionylcarnitine (C3)/acetylcarnitine (C2):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Propionilcarnitina (C3)/Acetilcarnitina (C2):SCrto:Pt:SgPapel:Qn: Synonyms: ; Propionylcarn; Propanoylcarnitine; C3-carntitine; Acetylcarn; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Пропионилкарнитин (C3)/Ацетилкарнитин (C2):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Propiyonilkarnitin (C3)/Asetilkarnitin (C2):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	丙酰肉碱 (C3)/乙酰肉碱 (C2):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 丙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3);C3;C3-肉碱;丙酰基肉碱;丙酰肉碱, C3 乙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C2);C2 乙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C2);C2;乙酰肉毒碱;乙酰肉毒碱, C2;乙酰肉碱, C2 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

54462-7 Malonylcarnitine (C3-DC) [Moles/volume] in DBS

Part Descriptions

LP70363-4 Malonylcarnitine (C3-DC)
Malonylcarnitine is a metabolite that accumulates with specific disruption of fatty-acid oxidation caused by impaired entry of long-chain acylcarnitine esters into the mitochondria and failure of the mitochondrial respiratory chain at complex 11 and malonyl-CoA decarboxylase (EC 4.1.1.9) deficiency [OMIM: 248360]. Malonylcarnitine has also been found to accumulate in some newborns with medium-chain acyl-CoA dehydrogenase (EC 1.3.99.3) deficiency [OMIM: 201450], PMID: 11558490, PMID: 15303003, PMID: 12651823. Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.) Source: Human Metabolome Database, Malonylcarnitine

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Malonylcarnitine (C3-DC)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Malonylcarn DBS-sCnc
Display Name: C3-DC (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C3-DC, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.27
Last Updated: Version 2.70
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Malonilcarnitina (C3-DC):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Malonilcarnitina (C3-DC):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Malonüülkarnitiin (C3-DC):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-CA	French (Canada)	Malonylcarnitine (C3-DC):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Malonylcarnitine (C3-DC):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Malonylcarnitine (C3-DC):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Malonilcarnitina (C3-DC):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	malonylcarnitine (C3-DC):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Malonilcarnitina (C3-DC):#N/A:Pt:SgPapel:Qn: Synonyms: ; Malonylcarn; C3DC; Dicarboxylic carnitine; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Малонилкарнитин (C3-DC):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Malonilkarnitin (C3-DC):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	丙二酰肉碱 (C3-DC):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 丙二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3-DC);C3DC;C3-DC;C3-DCC;丙二酸单酰肉碱;丙二酰基肉碱;丙二酰基酰基肉碱;丙二酸单酰基肉碱;丙二酸单酰肉碱, C3-DC;酰基肉碱丙二酸单酰基;丙二酸单酰肉碱;丙二酰肉碱克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

67708-8 Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH) [Moles/volume] in DBS

Term Description

This analyte is measured using the non-derivatized tandem mass spectrometry (MS/MS) method and is not measured when using the derivatized reagents. When using the derivatized reagents, it will instead be measured as the C3-DC+C8-OH analyte [LOINC: 53178-0]. A different LOINC code is used for the derivatized or non-derivatized method because based on the reagents used in processing, different sets of analytes become isobaric, which means that they cannot be distinguished on the MS/MS because they have the same molecular weight after reagent processing.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Malonyl+3OHbutyrylcarn DBS-sCnc
Display Name: C3-DC+C4-OH (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C3-DC+C4-OH, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.38
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 17981

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Malonilcarnitina (C3-DC)+3-hidroxibutirilcarnitina (C4-OH):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Malonilcarnitina (C3-DC) + 3-Hidroxibutirilcarnitina (C4-OH):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
fr-CA	French (Canada)	Malonylcarnitine (C3-DC)+3-hydroxybutyrylcarnitine (C4-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Malonylcarnitine (C3-DC)+3-hydroxybutyrylcarnitine (C4-OH):Moles/Volume:Ponctuel:Sang buvard:Numérique:
it-IT	Italian (Italy)	Malonilcarnitina (C3-DC)+3-Idrossibutirilcarnitina (C4-OH):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	malonylcarnitine (C3-DC) + 3-hydroxybutyrylcarnitine (C4-OH):mol/volume:moment:gedroogde bloedspot:kwantitatief:
ru-RU	Russian (Russian Federation)	Малонилкарнитин (C3-DC)+3-Гидроксибутирилкарнитин (C4-OH):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Malonilkarnitin (C3-DC)+3-Hidroksibütirilkarnitin (C4-OH):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	丙二酰肉碱 (C3-DC)+3-羟基异丁酰肉碱 (C4-OH):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 3-羟基丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C4-OH);3OH-丁酰肉碱;3-羟丁酰肉碱;3-羟-丁酰肉碱;3-羟基丁酰基肉碱;3-羟基-丁酰肉碱;3-羟基丁酰肉碱, C4-OH;C4OH;C4-OH Ⅲ III 三丙二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3-DC);C3DC;C3-DC;C3-DCC;丙二酸单酰肉碱;丙二酰基肉碱;丙二酰基酰基肉碱;丙二酸单酰基肉碱;丙二酸单酰肉碱, C3-DC;酰基肉碱丙二酸单酰基;丙二酸单酰肉碱;丙二酰肉碱丙二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3-DC)+3-羟基异丁酰肉碱 (C4-OH);丙二酰基肉碱 (C3-DC)+3-羟基异丁酰基肉碱 (C4-OH) 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

75213-9 Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)/Decanoylcarnitine (C10) [Molar ratio] in DBS

Term Description

C3DC (Malonylcarnitine)+C4OH (3-Hydroxybutyrylcarnitine)/C10 (Decanoylcarnitine) is a marker for malonic acidemia (also known as malonic aciduria), which is one of the secondary conditions on the HHS Secretary's Recommended Uniform Screening Panel for newborn screening.
Source: Regenstrief LOINC

Part Descriptions

LP70167-9 Decanoylcarnitine (C10)
Decanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency and Glutaric acidemia type II. Secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)/Decanoylcarnitine (C10)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Malonyl+3OHbutyrylcarn/C10 DBS-sRto
Display Name: C3-DC+C4-OH/Decanoylcarnitine (C10) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C3-DC+C4-OH/Decanoylcarnitine (C10), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.48
Last Updated: Version 2.61
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Malonilcarnitina (C3-DC)+3-hidroxibutirilcarnitina (C4-OH)/Decanoilcarnitina (C10):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Malonilcarnitina (C3-DC) + 3-Hidroxibutirilcarnitina (C4-OH) / Decanoilcarnitina (C10):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-CA	French (Canada)	Malonylcarnitine (C3-DC)+3-hydroxybutyrylcarnitine (C4-OH)/Décanoylcarnitine (C10):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Malonylcarnitine (C3-DC)+3-hydroxybutyrylcarnitine (C4-OH)/décanoylcarnitine (C10):Moles ratio:Ponctuel:Sang buvard:Numérique:
it-IT	Italian (Italy)	Malonilcarnitina (C3-DC)+3-Idrossibutirilcarnitina (C4-OH)/Decanoilcarnitina (C10):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	malonylcarnitine (C3-DC) + 3-hydroxybutyrylcarnitine (C4-OH)/decanoylcarnitine (C10):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Malonilcarnitina (C3-DC)+3-Hidroxibutirilcarnitina (C4-OH)/Decanoilcarnitina (C10)::Pt:SgPapel:Qn:
ru-RU	Russian (Russian Federation)	Малонилкарнитин (C3-DC)+3-Гидроксибутирилкарнитин (C4-OH)/Деканоилкарнитин (C10):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Malonilkarnitin (C3-DC)+3-Hidroksibütirilkarnitin (C4-OH)/Dekanoilkarnitin (C10):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	丙二酰肉碱 (C3-DC)+3-羟基异丁酰肉碱 (C4-OH)/癸酰肉碱 (C10):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 3-羟基丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C4-OH);3OH-丁酰肉碱;3-羟丁酰肉碱;3-羟-丁酰肉碱;3-羟基丁酰基肉碱;3-羟基-丁酰肉碱;3-羟基丁酰肉碱, C4-OH;C4OH;C4-OH Ⅲ III 三丙二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3-DC);C3DC;C3-DC;C3-DCC;丙二酸单酰肉碱;丙二酰基肉碱;丙二酰基酰基肉碱;丙二酸单酰基肉碱;丙二酸单酰肉碱, C3-DC;酰基肉碱丙二酸单酰基;丙二酸单酰肉碱;丙二酰肉碱丙二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3-DC)+3-羟基异丁酰肉碱 (C4-OH);丙二酰基肉碱 (C3-DC)+3-羟基异丁酰基肉碱 (C4-OH) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值癸酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10);C10 癸酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10);C10;癸酰基肉碱;癸酰肉碱, C10 血;血液

Example Units

Unit	Source
{ratio}	Example UCUM Units

53164-0 Propionylcarnitine (C3)/Palmitoylcarnitine (C16) [Molar ratio] in DBS

Part Descriptions

LP19303-4 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency. Source: Regenstrief LOINC

LP70162-0 Palmitoylcarnitine (C16)
Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Carnitine uptake defect. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Propionylcarnitine (C3)/Palmitoylcarnitine (C16)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Propionylcarn/C16 DBS-sRto
Display Name: C3/Palmitoylcarnitine (C16) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C3/Palmitoylcarnitine (C16), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Propionilcarnitina (C3)/Palmitoilcarnitina (C16):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Propionilcarnitina (C3) / Palmitoilcarnitina (C16):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Propionylcarnitine (C3)/palmitoylcarnitine (C16):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Propionylcarnitine (C3)/Palmitoylcarnitine (C16):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Propionylcarnitine (C3)/Palmitoylcarnitine (C16):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Propionilcarnitina (C3)/Palmitoilcarnitina (C16):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	propionylcarnitine (C3)/palmitoylcarnitine (C16):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Propionilcarnitina (C3)/Palmitoilcarnitina (C16):SCrto:Pt:SgPapel:Qn: Synonyms: ; Propionylcarn; Propanoylcarnitine; C3-carntitine; Palmitoylcarn; Hexadecanoylcarnitine; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Пропионилкарнитин (C3)/Пальмитоилкарнитин (C16):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Propiyonilkarnitin (C3)/Palmitoilkarnitin (C16):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	丙酰肉碱 (C3)/棕榈酰肉碱 (C16):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 丙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3);C3;C3-肉碱;丙酰基肉碱;丙酰肉碱, C3 丙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3)+棕榈酰肉碱 (C16);丙酰基肉碱 (C3)+棕榈酰基肉碱 (C16) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间棕榈酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C16);C16 棕榈酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C16);C16;十六烷酰肉碱;十六醛肉碱;棕榈酰肉碱, C16;棕榈醛肉碱物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53166-5 Butyrylcarnitine+Isobutyrylcarnitine (C4) [Moles/volume] in DBS

Part Descriptions

LP66333-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)
Butyrylcarnitine+Isobutyrylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy. Source: Regenstrief LOINC

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Fully-Specified Name

Component: Butyrylcarnitine+Isobutyrylcarnitine (C4)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Butyryl+Isobutyrylcarn DBS-sCnc
Display Name: Butyrylcarnitine+Isobutyrylcarnitine (C4) (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Butyrylcarnitine+Isobutyrylcarnitine (C4), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 17344

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Butirilcarnitina+Isobutirilcarnitina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Butirilcarnitina + Isobutirilcarnitina (C4):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Butürüülkarnitiin + isobutürüülkarnitiin (C4):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Butyrylcarnitine+isobutyrylcarnitine (C4):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Butyrylcarnitine+Isobutyrylcarnitine (C4):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Butyrylcarnitine+Isobutyrylcarnitine (C4):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Butirrilcarnitina+Isobutirrilcarnitina (C4):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	butyrylcarnitine + isobutyrylcarnitine (C4):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Butirilcarnitina+Isobutirilcarnitina (C4):SCnc:Pt:SgPapel:Qn: Synonyms: ; Isobutyrylcarn; Butyryl+Isobutyrylcarn; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Бутирилкарнитин+Изобутирилкарнитин (C4):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Bütirilkarnitin+izobütirilkarnitin (C4):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	丁酰肉碱+异丁酰肉碱 (C4):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）+异丁酰肉碱 (C4);丁酰基肉毒碱+异丁酰基肉毒碱 (C4);丁酰基肉碱+异丁酰基肉碱 (C4);丁酰肉毒碱+异丁酰肉毒碱 (C4) 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺异丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C4);C4;异丁酰基肉碱;异丁酰肉碱, C4 时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53167-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2) [Molar ratio] in DBS

Term Description

Butyrylcarnitine+Isobutyrylcarnitine/Acetylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC

Part Descriptions

LP66333-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)
Butyrylcarnitine+Isobutyrylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy. Source: Regenstrief LOINC

LP70165-3 Acetylcarnitine (C2)
Acetyl-L-carnitine or ALCAR, is an acetylated form of L-carnitine. ALCAR has been claimed to be superior to normal L-carnitine in terms of bioavailability. However, at least one study has suggested that the acetylated form may have a lower oral bioavailability. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Acetylcarnitine

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Fully-Specified Name

Component: Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Butyryl+Isobutyrylcarn/C2 DBS-sRto
Display Name: Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.61
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Butirilcarnitina+Isobutirilcarnitina/Acetilcarnitina (C2):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Butirilcarnitina + Isobutirilcarnitina (C4) / Acetilcarnitina (C2):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Butyrylcarnitine+isobutyrylcarnitine (C4)/acétylcarnitine (C2):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acétylcarnitine (C2):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acétylcarnitine (C2):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Butirrilcarnitina+Isobutirrilcarnitina (C4)/Acetilcarnitina (C2):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	butyrylcarnitine + isobutyrylcarnitine (C4)/acetylcarnitine (C2):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Butirilcarnitina+Isobutirilcarnitina (C4)/Acetilcarnitina (C2):SCrto:Pt:SgPapel:Qn: Synonyms: ; Butyryl+Isobutyrylcarn; Isobutyrylcarn; Butyryl+Isobutyrylcarn; Acetylcarn; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Бутирилкарнитин+Изобутирилкарнитин (C4)/Ацетилкарнитин (C2):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Bütirilkarnitin+izobütirilkarnitin (C4)/Asetilkarnitin (C2):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	丁酰肉碱+异丁酰肉碱 (C4)/乙酰肉碱 (C2):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）+异丁酰肉碱 (C4);丁酰基肉毒碱+异丁酰基肉毒碱 (C4);丁酰基肉碱+异丁酰基肉碱 (C4);丁酰肉毒碱+异丁酰肉毒碱 (C4) 乙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C2);C2 乙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C2);C2;乙酰肉毒碱;乙酰肉毒碱, C2;乙酰肉碱, C2 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺异丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C4);C4;异丁酰基肉碱;异丁酰肉碱, C4 时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53168-1 Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3) [Molar ratio] in DBS

Term Description

Butyrylcarnitine+Isobutyrylcarnitine/Propionylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC

Part Descriptions

LP66333-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)
Butyrylcarnitine+Isobutyrylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy. Source: Regenstrief LOINC

LP70306-3 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

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Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Butyryl+Isobutyrylcarn/C3 DBS-sRto
Display Name: Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.61
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Butirilcarnitina+Isobutirilcarnitina/Propionilcarnitina (C39:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Butirilcarnitina + Isobutirilcarnitina (C4) / Propionilcarnitina (C3):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Butyrylcarnitine+isobutyrylcarnitine (C4)/propionycarnitine (C3):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Butirrilcarnitina+Isobutirrilcarnitina (C4)/Propionilcarnitina (C3):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	butyrylcarnitine + isobutyrylcarnitine (C4)/propionylcarnitine (C3):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Butirilcarnitina+Isobutirilcarnitina (C4)/Propionilcarnitina (C3):SCrto:Pt:SgPapel:Qn: Synonyms: ; Butyryl+Isobutyrylcarn; Propionylcarn; Propanoylcarnitine; C3-carntitine; Isobutyrylcarn; Butyryl+Isobutyrylcarn; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Бутирилкарнитин+Изобутирилкарнитин (C4)/Пропионилкарнитин (C3):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Bütirilkarnitin+izobütirilkarnitin (C4)/Propiyonilkarnitin (C3):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	丁酰肉碱+异丁酰肉碱 (C4)/丙酰肉碱 (C3):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）+异丁酰肉碱 (C4);丁酰基肉毒碱+异丁酰基肉毒碱 (C4);丁酰基肉碱+异丁酰基肉碱 (C4);丁酰肉毒碱+异丁酰肉毒碱 (C4) 丙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3);C3;C3-肉碱;丙酰基肉碱;丙酰肉碱, C3 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺异丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C4);C4;异丁酰基肉碱;异丁酰肉碱, C4 时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53169-9 Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8) [Molar ratio] in DBS

Term Description

Butyrylcarnitine+Isobutyrylcarnitine/Octanoylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Isobutyrylglycinuria and Ethylmalonic encephalopathy.
Source: Regenstrief LOINC

Part Descriptions

LP66333-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)
Butyrylcarnitine+Isobutyrylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy. Source: Regenstrief LOINC

LP70166-1 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Butyryl+Isobutyrylcarn/C8 DBS-sRto
Display Name: Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.61
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Butirilcarnitina+Isobutirilcarnitina/Octanoilcarnitina (C8):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Butirilcarnitina + Isobutirilcarnitina (C4) / Octanoilcarnitina (C8):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Butyrylcarnitine+isobutyrylcarnitine (C4)/octanoylcarnitine (C8):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Butirrilcarnitina+Isobutirrilcarnitina (C4)/Octanoilcarnitina (C8):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	butyrylcarnitine + isobutyrylcarnitine (C4)/octanoylcarnitine (C8):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Butirilcarnitina+Isobutirilcarnitina (C4)/Octanoilcarnitina (C8):SCrto:Pt:SgPapel:Qn: Synonyms: ; Butyryl+Isobutyrylcarn; Octanoylcarn; Isobutyrylcarn; Butyryl+Isobutyrylcarn; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Бутирилкарнитин+Изобутирилкарнитин (C4)/Октаноилкарнитин (C8):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Bütirilkarnitin+izobütirilkarnitin (C4)/Oktanoilkarnitin (C8):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	丁酰肉碱+异丁酰肉碱 (C4)/辛酰肉碱 (C8):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）+异丁酰肉碱 (C4);丁酰基肉毒碱+异丁酰基肉毒碱 (C4);丁酰基肉碱+异丁酰基肉碱 (C4);丁酰肉毒碱+异丁酰肉毒碱 (C4) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺异丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C4);C4;异丁酰基肉碱;异丁酰肉碱, C4 时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液辛酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C8);C8 辛酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C8);C8;辛酰基肉碱;辛酰肉碱, C8

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53170-7 Tiglylcarnitine (C5:1) [Moles/volume] in DBS

Part Descriptions

LP66336-6 Tiglylcarnitine (C5:1)
Tiglylcarnitine is a primary marker for Beta-Ketothiolase deficiency and 2-Methyl-3-hydroxybutyric aciduria. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Tiglylcarnitine (C5:1)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Tiglylcarn DBS-sCnc
Display Name: Tiglylcarnitine (C5:1) (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Tiglylcarnitine (C5:1), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 19853

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Tiglilcarnitina (C5:1):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Tiglylcarnitine (C5:1):Concentración de sustancias:Punto temporal:DBS:Cuantitativo
et-EE	Estonian (Estonia)	Tiglülkarnitiin (C5:1):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Tiglylcarnitine (C5:1):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Tiglylcarnitine (C5:1):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Tiglylcarnitine (C5:1):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Tiglilcarnitina (C5:1):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	tiglylcarnitine (C5:1):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pl-PL	Polish (Poland)	Tiglilokarnityna (C5:1):stężenie molowe:punkt w czasie:sucha kropla krwi:ilościowy: Synonyms: Tiglicarnityna (C5:1)
pt-BR	Portuguese (Brazil)	Tiglilcarnitina (C5:1):SCnc:Pt:SgPapel:Qn: Synonyms: ; Tiglylcarn; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; I; Chemistry
ru-RU	Russian (Russian Federation)	Тиглилкарнитин (C5:1):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Tiglilkarnitin (C5:1):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	甲基巴豆酰肉碱 (C5:1):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: Ⅰ I 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间甲基巴豆酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5:1);甲基巴豆酰肉毒碱;C5:1;甲基巴豆酰基肉毒碱;甲基巴豆酰基肉毒碱, C5:1;甲基巴豆酰基肉碱;甲基巴豆酰基肉碱, C5:1;甲基巴豆酰肉毒碱, C5:1;甲基巴豆酰肉碱;甲基巴豆酰肉碱, C5:1 血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

45207-8 Glutarylcarnitine (C5-DC) [Moles/volume] in DBS

Part Descriptions

LP19314-1 Glutarylcarnitine (C5-DC)
Glutaric aciduria type I (GA I) is an autosomal-recessive deficiency of glutaryl-CoA-dehydrogenase and leads to encephalopathic crises resulting in neurological damage. A screening parameter is glutarylcarnitine (C5DC) with carnitine ratios. C5DC was shown to be significantly associated with renal manifestations. Creatinine correlates significantly with C5DC and all C5DC/acylcarnitine ratios. PMID: 20033292 Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Glutarylcarnitine (C5-DC)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Glutarylcarn DBS-sCnc
Display Name: C5-DC (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C5-DC, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.17
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 17229

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Glutarilcarnitina (C5-DC):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Glutarilcarnitina (C5-DC):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Glutarüülkarnitiin (C5-DC):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Glutarylcarnitine (C5-DC):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Glutarylcarnitine (C5-DC):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Glutarylcarnitine (C5-DC):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Glutarilcarnitina (C5-DC):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	glutarylcarnitine (C5-DC):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Glutarilcarnitina (C5-DC):SCnc:Pt:SgPapel:Qn: Synonyms: ; Glutarylcarn; Dicarboxylic carnitine; C5DC; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Глутарилкарнитин (C5-DC):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Glutarilkarnitin (C5-DC):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	戊二酰肉碱 (C5-DC):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC);C5DC;C5-DC;戊二酰基肉碱;戊二酰肉碱, C5DC;戊二酸单酰基肉碱;戊二酸单酰肉碱;戊二酸单酰肉碱, C5DC 时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

75216-2 Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in DBS

Term Description

C5DC (Glutarylcarnitine)/C3DC (Malonylcarnitine) is a marker for malonic acidemia (also known as malonic aciduria), which is one of the secondary conditions on the HHS Secretary's Recommended Uniform Screening Panel for newborn screening.
Source: Regenstrief LOINC

Part Descriptions

LP19314-1 Glutarylcarnitine (C5-DC)
Glutaric aciduria type I (GA I) is an autosomal-recessive deficiency of glutaryl-CoA-dehydrogenase and leads to encephalopathic crises resulting in neurological damage. A screening parameter is glutarylcarnitine (C5DC) with carnitine ratios. C5DC was shown to be significantly associated with renal manifestations. Creatinine correlates significantly with C5DC and all C5DC/acylcarnitine ratios. PMID: 20033292 Source: Regenstrief LOINC

Fully-Specified Name

Component: Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Glutarylcarn/C3-DC DBS-sRto
Display Name: C5-DC/Malonylcarnitine (C3-DC) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C5-DC/Malonylcarnitine (C3-DC), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.48
Last Updated: Version 2.61
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Glutarilcarnitina (C5-DC)/Malonilcarnitina (C3-DC):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Glutarilcarnitina (C5-DC) / Malonilcarnitina (C3-DC):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Glutarylcarnitine (C5-DC)/malonylcarnitine (C3-DC):Moles ratio:Ponctuel:Sang buvard:Numérique:
it-IT	Italian (Italy)	Glutarilcarnitina (C5-DC)/Malonilcarnitina (C3-DC):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	glutarylcarnitine (C5-DC)/malonylcarnitine (C3-DC):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Glutarilcarnitina (C5-DC)/Malonilcarnitina (C3-DC)::Pt:SgPapel:Qn:
ru-RU	Russian (Russian Federation)	Глутарилкарнитин (C5-DC)/Малонилкарнитин (C3-DC):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Glutarilkarnitin (C5-DC)/Malonilkarnitin (C3-DC):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	戊二酰肉碱 (C5-DC)/丙二酰肉碱 (C3-DC):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 丙二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3-DC);C3DC;C3-DC;C3-DCC;丙二酸单酰肉碱;丙二酰基肉碱;丙二酰基酰基肉碱;丙二酸单酰基肉碱;丙二酸单酰肉碱, C3-DC;酰基肉碱丙二酸单酰基;丙二酸单酰肉碱;丙二酰肉碱丙二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3-DC);丙二酰基肉碱 (C3-DC) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC);C5DC;C5-DC;戊二酰基肉碱;戊二酰肉碱, C5DC;戊二酸单酰基肉碱;戊二酸单酰肉碱;戊二酸单酰肉碱, C5DC 时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{ratio}	Example UCUM Units

67701-3 Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS

Term Description

This ratio may be computed only when using the non-derivatized tandem mass spectrometry (MS/MS) method reagents which measure the numerator, C5-DC+C6-OH, as a single isobaric analyte.
Source: Regenstrief LOINC

Part Descriptions

LP70162-0 Palmitoylcarnitine (C16)
Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Carnitine uptake defect. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Palmitoylcarnitine (C16)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Glut+3OHhexanoylcarn/C16 DBS-sRto
Display Name: C5-DC+C6-OH/Palmitoylcarnitine (C16) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C5-DC+C6-OH/Palmitoylcarnitine (C16), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.38
Last Updated: Version 2.73
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Glutarilcarnitina (C5-DC)+3-Hidroxihexanoilcarnitina (C6-OH)/Palmitoilcarnitina (C16):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Glutarilcarnitina (C5-DC) + 3-Hidroxihexanoilcarnitina (C6-OH) / Palmitoilcarnitina (C16):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Glutarylcarnitine (C5-DC)+3-hydroxyhexanoylcarnitine (C6-OH)/palmitoylcarnitine (C16):Moles ratio:Ponctuel:Sang buvard:Numérique:
it-IT	Italian (Italy)	Glutarilcarnitina (C5-DC)+3-Idrossiesanoilcarnitina (C6-OH)/Palmitoilcarnitina (C16):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	glutarylcarnitine (C5-DC) + 3-hydroxyhexanoylcarnitine (C6-OH)/palmitoylcarnitine (C16):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
ru-RU	Russian (Russian Federation)	Глутарилкарнитин (C5-DC)+3-Гидроксигексаноилкарнитин (C6-OH)/Пальмитоилкарнитин (C16):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Glutarilkarnitin (C5-DC)+3-Hidroksihekzanoilkarnitin (C6-OH)/Palmitoilkarnitin (C16):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	戊二酰肉碱 (C5-DC)+3-羟基己酰肉碱 (C6-OH)/棕榈酰肉碱 (C16):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 3-羟基己酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C6-OH);3OH-己酰肉碱;3-羟基己酰基肉碱;3-羟基-己酰基肉碱;3-羟基-己酰肉碱;3-羟基-己酰肉碱, C6-OH;3-羟基己酰肉碱, C6-OH;C6OH;C6-OH Ⅲ III 三全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC);C5DC;C5-DC;戊二酰基肉碱;戊二酰肉碱, C5DC;戊二酸单酰基肉碱;戊二酸单酰肉碱;戊二酸单酰肉碱, C5DC 戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC)+3-羟基己酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C6-OH) 时刻;随机;随意;瞬间棕榈酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C16);C16 棕榈酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C16);C16;十六烷酰肉碱;十六醛肉碱;棕榈酰肉碱, C16;棕榈醛肉碱物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

67710-4 Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH) [Moles/volume] in DBS

Term Description

This analyte is measured using the non-derivatized tandem mass spectrometry (MS/MS) method and is not measured when using the derivatized reagents. When using the derivatized reagents, it will instead be measured as the C5-DC+C10-OH analyte [LOINC: 53183-0]. A different LOINC code is used for the derivatized or non-derivatized method because based on the reagents used in processing, different sets of analytes become isobaric, which means that they cannot be distinguished on the MS/MS because they have the same molecular weight after reagent processing.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Glut+3OHhexanoylcarn DBS-sCnc
Display Name: C5-DC+C6-OH (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C5-DC+C6-OH, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.38
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Glutarilcarnitina (C5-DC)+3-Hidroxihexanoilcarnitina (C6-OH):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Glutarilcarnitina (C5-DC) + 3-Hidroxihexanoilcarnitina (C6-OH):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Glutarylcarnitine (C5-DC)+3-hydroxyhexanoylcarnitine (C6-OH):Moles/Volume:Ponctuel:Sang buvard:Numérique:
it-IT	Italian (Italy)	Glutarilcarnitina (C5-DC)+3-Idrossiesanoilcarnitina (C6-OH):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	glutarylcarnitine (C5-DC) + 3-hydroxyhexanoylcarnitine (C6-OH):mol/volume:moment:gedroogde bloedspot:kwantitatief:
ru-RU	Russian (Russian Federation)	Глутарилкарнитин (C5-DC)+3-Гидроксигексаноилкарнитин (C6-OH):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Glutarilkarnitin (C5-DC)+3-Hidroksihekzanoilkarnitin (C6-OH):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	戊二酰肉碱 (C5-DC)+3-羟基己酰肉碱 (C6-OH):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 3-羟基己酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C6-OH);3OH-己酰肉碱;3-羟基己酰基肉碱;3-羟基-己酰基肉碱;3-羟基-己酰肉碱;3-羟基-己酰肉碱, C6-OH;3-羟基己酰肉碱, C6-OH;C6OH;C6-OH Ⅲ III 三克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC);C5DC;C5-DC;戊二酰基肉碱;戊二酰肉碱, C5DC;戊二酸单酰基肉碱;戊二酸单酰肉碱;戊二酸单酰肉碱, C5DC 戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC)+3-羟基己酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C6-OH) 时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

67711-2 Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS

Term Description

This ratio may be computed only when using the non-derivatized tandem mass spectrometry (MS/MS) method reagents which measure the numerator, C5-DC+C6-OH, as a single isobaric analyte.
Source: Regenstrief LOINC

Part Descriptions

LP70166-1 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Octanoylcarnitine (C8)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Glut+3OHhexanoylcarn/C8 DBS-sRto
Display Name: C5-DC+C6-OH/Octanoylcarnitine (C8) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C5-DC+C6-OH/Octanoylcarnitine (C8), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.38
Last Updated: Version 2.73
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Glutarilcarnitina (C5-DC)+3-Hidroxihexanoilcarnitina (C6-OH)/Octanoilcarnitina (C8):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Glutarilcarnitina (C5-DC) + 3-Hidroxihexanoilcarnitina (C6-OH) / Octanoilcarnitina (C8):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Glutarylcarnitine (C5-DC)+3-hydroxyhexanoylcarnitine (C6-OH)/octanoylcarnitine (C8):Moles ratio:Ponctuel:Sang buvard:Numérique:
it-IT	Italian (Italy)	Glutarilcarnitina (C5-DC)+3-Idrossiesanoilcarnitina (C6-OH)/Octanoilcarnitina (C8):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	glutarylcarnitine (C5-DC) + 3-hydroxyhexanoylcarnitine (C6-OH)/octanoylcarnitine (C8):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
ru-RU	Russian (Russian Federation)	Глутарилкарнитин (C5-DC)+3-Гидроксигексаноилкарнитин (C6-OH)/Октаноилкарнитин (C8):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Glutarilkarnitin (C5-DC)+3-Hidroksihekzanoilkarnitin (C6-OH)/Oktanoilkarnitin (C8):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	戊二酰肉碱 (C5-DC)+3-羟基己酰肉碱 (C6-OH)/辛酰肉碱 (C8):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 3-羟基己酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C6-OH);3OH-己酰肉碱;3-羟基己酰基肉碱;3-羟基-己酰基肉碱;3-羟基-己酰肉碱;3-羟基-己酰肉碱, C6-OH;3-羟基己酰肉碱, C6-OH;C6OH;C6-OH Ⅲ III 三全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC);C5DC;C5-DC;戊二酰基肉碱;戊二酰肉碱, C5DC;戊二酸单酰基肉碱;戊二酸单酰肉碱;戊二酸单酰肉碱, C5DC 戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC)+3-羟基己酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C6-OH) 时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液辛酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C8);C8 辛酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C8);C8;辛酰基肉碱;辛酰肉碱, C8

Example Units

Unit	Source
{Ratio}	Example UCUM Units

45216-9 Isovalerylcarnitine+Methylbutyrylcarnitine (C5) [Moles/volume] in DBS

Part Descriptions

LP70195-0 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)
Isovalerylcarnitine+Methylbutyrylcarnitine is a primary marker for Isovaleric acidemia, Glutaric acidemia type II, 2-Methylbutyrylglycinuria and Ethylmalonic encephalopathy. Source: Regenstrief Institute

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Isovalerylcarnitine+Methylbutyrylcarnitine (C5)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Isovaleryl+MeButyrylcarn DBS-sCnc
Display Name: Isovalerylcarnitine+Methylbutyrylcarnitine (C5) (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Isovalerylcarnitine+Methylbutyrylcarnitine (C5), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.17
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 18875

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Isovalerilcarnitina+Metilbutirilcarnitina (C5):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Isovalerilcarnitina + Metilbutirilcarnitina (C5):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	isovalerüülkarnitiin + metüülbutürüülkarnitiin (C5):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Isovalérylcarnitine+méthylbutyrylcarnitine (C5):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Isovalérylcarnitine+Méthylbutyrylcarnitine (C5):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Isovalérylcarnitine+Méthylbutyrylcarnitine (C5):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Isovalerilcarnitina+Metilbutirrilcarnitina (C5):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	isovalerylcarnitine + methylbutyrylcarnitine (C5):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Isovalerilcarnitina+Metilbutirilcarnitina (C5):SCnc:Pt:SgPapel:Qn: Synonyms: ; Isovaleryl+MeButyrylcarn; Isovaleryl-2-Methylbutyrylcarnitine; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Изовалерилкарнитин+Метилбутирилкарнитин (C5):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	İzovalerilkarnitin+Metilbütirilkarnitin (C5):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	异戊酰肉碱+甲基丁酰肉碱 (C5):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺异戊酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）+甲基丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5) 时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53238-2 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Carnitine.free (C0) [Molar ratio] in DBS

Part Descriptions

LP32015-7 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I. Source: Regenstrief LOINC

LP70195-0 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)
Isovalerylcarnitine+Methylbutyrylcarnitine is a primary marker for Isovaleric acidemia, Glutaric acidemia type II, 2-Methylbutyrylglycinuria and Ethylmalonic encephalopathy. Source: Regenstrief Institute

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Carnitine.free (C0)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Isovaleryl+MeButyrylcarn/C0 DBS-sRto
Display Name: Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Carnitine.free (C0) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Free Carnitine (C0), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Isovalerilcarnitina+Metilbutirilcarnitina (C5)/Carnitina libre:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Isovalerilcarnitina + Metilbutirilcarnitina (C5) / Carnitina libre (C0):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Isovalérylcarnitine+méthylbutyrylcarnitine (C5)/carnitine libre (C0):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Isovalérylcarnitine+Méthylbutyrylcarnitine (C5)/Carnitine.libre (C0):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Isovalérylcarnitine+Méthylbutyrylcarnitine (C5)/Carnitine.libre (C0):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Isovalerilcarnitina+Metilbutirrilcarnitina (C5)/Carnitina.libera (C0):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	isovalerylcarnitine + methylbutyrylcarnitine (C5)/carnitine.vrij (C0):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Isovalerilcarnitina+Metilbutirilcarnitina (C5)/Carnitina.livre (C0):SCrto:Pt:SgPapel:Qn: Synonyms: ; Isovaleryl+MeButyrylcarn; Isovaleryl-2-Methylbutyrylcarnitine; Isovaleryl+MeButyrylcarn; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; FR; Non-protein bound; Chemistry
ru-RU	Russian (Russian Federation)	Изовалерилкарнитин+Метилбутирилкарнитин (C5)/Карнитин.свободный(С0):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	İzovalerilkarnitin+Metilbütirilkarnitin (C5)/Karnitin.serb (C0):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	异戊酰肉碱+甲基丁酰肉碱 (C5)/肉碱.游离型 (C0):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺异戊酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）+甲基丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5) 时刻;随机;随意;瞬间游离物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）.游离型 (C0);肉毒碱.游离型 (C0) 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）.游离型 (C0);肉毒碱.游离型 (C0);三甲基羟基丁酰甜菜碱.游离型 (C0);游离三甲基羟基丁酰甜菜碱 (C0);游离型三甲基羟基丁酰甜菜碱 (C0);游离型肉毒碱 (C0);游离型肉碱 (C0);游离肉毒碱 (C0);游离肉碱 (C0);肉碱.游离型 (C0) 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）;三甲基羟基丁酰甜菜碱;卡尼丁;总肉毒碱;总肉碱;肉毒碱;肉毒碱.总;肉毒碱.总计;肉碱.总;肉碱.总计血;血液非蛋白结合型非蛋白质结合型

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53239-0 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Acetylcarnitine (C2) [Molar ratio] in DBS

Term Description

Isovalerylcarnitine+Methylbutyrylcarnitine/Acetylcarnitine is a primary marker for Isovaleric acidemia, Glutaric acidemia type II, 2-Methylbutyrylglycinuria and Ethylmalonic encephalopathy.
Source: Regenstrief LOINC

Part Descriptions

LP70165-3 Acetylcarnitine (C2)
Acetyl-L-carnitine or ALCAR, is an acetylated form of L-carnitine. ALCAR has been claimed to be superior to normal L-carnitine in terms of bioavailability. However, at least one study has suggested that the acetylated form may have a lower oral bioavailability. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Acetylcarnitine

LP70195-0 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)
Isovalerylcarnitine+Methylbutyrylcarnitine is a primary marker for Isovaleric acidemia, Glutaric acidemia type II, 2-Methylbutyrylglycinuria and Ethylmalonic encephalopathy. Source: Regenstrief Institute

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Acetylcarnitine (C2)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Isovaleryl+MeButyrylcarn/C2 DBS-sRto
Display Name: Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Acetylcarnitine (C2) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Acetylcarnitine (C2), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Isovalerilcarnitina+Metilbutirilcarnitina (C5)/Acetilcarnitina (C2):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Isovalerilcarnitina + Metilbutirilcarnitina (C5) / Acetilcarnitina (C2):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Isovalérylcarnitine+méthylbutyrylcarnitine (C5)/acétylcarnitine (C2):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Isovalérylcarnitine+Méthylbutyrylcarnitine (C5)/Acétylcarnitine (C2):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Isovalérylcarnitine+Méthylbutyrylcarnitine (C5)/Acétylcarnitine (C2):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Isovalerilcarnitina+Metilbutirrilcarnitina (C5)/Acetilcarnitina (C2):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	isovalerylcarnitine + methylbutyrylcarnitine (C5)/acetylcarnitine (C2):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Isovalerilcarnitina+Metilbutirilcarnitina (C5)/Acetilcarnitina (C2):SCrto:Pt:SgPapel:Qn: Synonyms: ; Isovaleryl+MeButyrylcarn; Isovaleryl-2-Methylbutyrylcarnitine; Isovaleryl+MeButyrylcarn; Acetylcarn; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Изовалерилкарнитин+Метилбутирилкарнитин (C5)/Ацетилкарнитин (C2):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	İzovalerilkarnitin+Metilbütirilkarnitin (C5)/Asetilkarnitin (C2):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	异戊酰肉碱+甲基丁酰肉碱 (C5)/乙酰肉碱 (C2):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 乙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C2);C2 乙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C2);C2;乙酰肉毒碱;乙酰肉毒碱, C2;乙酰肉碱, C2 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺异戊酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）+甲基丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5) 时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53240-8 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3) [Molar ratio] in DBS

Term Description

Isovalerylcarnitine+Methylbutyrylcarnitine/Propionylcarnitine is a primary marker for Isovaleric acidemia, Glutaric acidemia type II, 2-Methylbutyrylglycinuria and Ethylmalonic encephalopathy.
Source: Regenstrief LOINC

Part Descriptions

LP70195-0 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)
Isovalerylcarnitine+Methylbutyrylcarnitine is a primary marker for Isovaleric acidemia, Glutaric acidemia type II, 2-Methylbutyrylglycinuria and Ethylmalonic encephalopathy. Source: Regenstrief Institute

LP70306-3 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Isovaleryl+MeButyrylcarn/C3 DBS-sRto
Display Name: Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 16602

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Isovalerilcarnitina+Metilbutirilcarnitina (C5)/Propionilcarnitina (C39:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Isovalerilcarnitina + Metilbutirilcarnitina (C5) / Propionilcarnitina (C3):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Isovalérylcarnitine+méthylbutyrylcarnitine (C5)/propionylcarnitine (C3):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Isovalérylcarnitine+Méthylbutyrylcarnitine (C5)/Propionylcarnitine (C3):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Isovalérylcarnitine+Méthylbutyrylcarnitine (C5)/Propionylcarnitine (C3):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Isovalerilcarnitina+Metilbutirrilcarnitina (C5)/Propionilcarnitina (C3):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	isovalerylcarnitine + methylbutyrylcarnitine (C5)/propionylcarnitine (C3):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Isovalerilcarnitina+Metilbutirilcarnitina (C5)/Propionilcarnitina (C3):SCrto:Pt:SgPapel:Qn: Synonyms: ; Isovaleryl+MeButyrylcarn; Isovaleryl-2-Methylbutyrylcarnitine; Propionylcarn; Propanoylcarnitine; C3-carntitine; Isovaleryl+MeButyrylcarn; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Изовалерилкарнитин+Метилбутирилкарнитин (C5)/Пропионилкарнитин (C3):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	İzovalerilkarnitin+Metilbütirilkarnitin (C5)/Propiyonilkarnitin (C3):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	异戊酰肉碱+甲基丁酰肉碱 (C5)/丙酰肉碱 (C3):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 丙酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3);C3;C3-肉碱;丙酰基肉碱;丙酰肉碱, C3 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺异戊酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）+甲基丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5) 时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53401-6 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Octanoylcarnitine (C8) [Molar ratio] in DBS

Part Descriptions

LP70166-1 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency. Source: Regenstrief LOINC

LP70195-0 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)
Isovalerylcarnitine+Methylbutyrylcarnitine is a primary marker for Isovaleric acidemia, Glutaric acidemia type II, 2-Methylbutyrylglycinuria and Ethylmalonic encephalopathy. Source: Regenstrief Institute

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Octanoylcarnitine (C8)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Isovaleryl+MeButyrylcarn/C8 DBS-sRto
Display Name: Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Octanoylcarnitine (C8) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Octanoylcarnitine (C8), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Isovalerilcarnitina+Metilbutirilcarnitina (C5)/Octanoilcarnitina (C8):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Isovalerilcarnitina + Metilbutirilcarnitina (C5) / Octanoilcarnitina (C8):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Isovalérylcarnitine+méthylbutyrylcarnitine (C5)/octanoylcarnitine (C8):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Isovalérylcarnitine+Méthylbutyrylcarnitine (C5)/Octanoylcarnitine (C8):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Isovalérylcarnitine+Méthylbutyrylcarnitine (C5)/Octanoylcarnitine (C8):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Isovalerilcarnitina+Metilbutirrilcarnitina (C5)/Octanoilcarnitina (C8):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	isovalerylcarnitine + methylbutyrylcarnitine (C5)/octanoylcarnitine (C8):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Isovalerilcarnitina+Metilbutirilcarnitina (C5)/Octanoilcarnitina (C8):SCrto:Pt:SgPapel:Qn: Synonyms: ; Isovaleryl+MeButyrylcarn; Isovaleryl-2-Methylbutyrylcarnitine; Octanoylcarn; Isovaleryl+MeButyrylcarn; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Изовалерилкарнитин+Метилбутирилкарнитин (C5)/Октаноилкарнитин (C8):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	İzovalerilkarnitin+Metilbütirilkarnitin (C5)/Oktanoilkarnitin (C8):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	异戊酰肉碱+甲基丁酰肉碱 (C5)/辛酰肉碱 (C8):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺异戊酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）+甲基丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5) 时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液辛酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C8);C8 辛酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C8);C8;辛酰基肉碱;辛酰肉碱, C8

Example Units

Unit	Source
{Ratio}	Example UCUM Units

50106-4 3-Hydroxyisovalerylcarnitine (C5-OH) [Moles/volume] in DBS

Part Descriptions

LP19309-1 3-Hydroxyisovalerylcarnitine (C5-OH)
3-Hydroxyisovalerylcarnitine is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: 3-Hydroxyisovalerylcarnitine (C5-OH)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 3OH-Isovalerylcarn DBS-sCnc
Display Name: 3-Hydroxyisovalerylcarnitine (C5-OH) (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: 3-Hydroxyisovalerylcarnitine (C5-OH), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.22
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 17950

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	3-Hidroxiisovalerilcarnitina (C5-OH):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	3-hidroxiisovalerilcarnitina (C5-OH):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	3-hüdroksüisovalerüülkarnitiin (C5-OH):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	3-hydroxyisovalérylcarnitine (C5-OH):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	3-hydroxyisovalérylcarnitine (C5-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	3-hydroxyisovalérylcarnitine (C5-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	3-Idrossiisovalerilcarnitina (C5-OH):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	3-hydroxyisovalerylcarnitine (C5-OH):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	3-Hidroxisovalerilcarnitina (C5-OH):SCnc:Pt:SgPapel:Qn: Synonyms: ; 3OH-Isovalerylcarn; 3-hydroxy-isovalerylcarnitine; C5OH; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	3-Гидроксиизовалерилкарнитин (C5-OH):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	3-Hidroksiizovalerilkarnitin (C5-OH):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	3-羟基异戊酰肉碱 (C5-OH):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 3-羟基异戊酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-OH);3OH-异戊酰肉碱;3-羟基异戊酰基肉碱;3-羟基-异戊酰基肉碱;3-羟基-异戊酰肉碱;3-羟基-异戊酰肉碱, C5-OH;3-羟基异戊酰肉碱, C5-OH;C5OH;C5-OH Ⅲ III 三克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53171-5 3-Hydroxyisovalerylcarnitine (C5-OH)/Carnitine.free (C0) [Molar ratio] in DBS

Term Description

3-Hydroxyisovalerylcarnitine/Carnitine.free is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria. Secondary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, and 3-Hydroxy-3-methylglutaric aciduria.
Source: Regenstrief LOINC

Part Descriptions

LP19309-1 3-Hydroxyisovalerylcarnitine (C5-OH)
3-Hydroxyisovalerylcarnitine is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria. Source: Regenstrief LOINC

LP32015-7 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: 3-Hydroxyisovalerylcarnitine (C5-OH)/Carnitine.free (C0)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 3OH-Isovalerylcarn/C0 DBS-sRto
Display Name: 3-Hydroxyisovalerylcarnitine (C5-OH)/Carnitine.free (C0) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: 3-Hydroxyisovalerylcarnitine (C5-OH)/Free Carnitine (C0), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	3-Hidroxiisovalerilcarnitina (C5-OH)/Carnitina libre:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	3-hidroxiisovalerilcarnitina (C5-OH) / carnitina libre (C0):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	3-hydroxyisovalérylcarnitine (C5-OH)/carnitine libre (C0):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	3-hydroxyisovalérylcarnitine (C5-OH)/Carnitine.libre (C0):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	3-hydroxyisovalérylcarnitine (C5-OH)/Carnitine.libre (C0):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	3-Idrossiisovalerilcarnitina (C5-OH)/Carnitina.libera (C0):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	3-hydroxyisovalerylcarnitine (C5-OH)/carnitine.vrij (C0):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	3-Hidroxisovalerilcarnitina (C5-OH)/Carnitina.livre (C0):SCrto:Pt:SgPapel:Qn: Synonyms: ; 3OH-Isovalerylcarn; 3-hydroxy-isovalerylcarnitine; C5OH; 3OH-Isovalerylcarn; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; FR; Non-protein bound; III; Chemistry
ru-RU	Russian (Russian Federation)	3-Гидроксиизовалерилкарнитин (C5-OH)/Карнитин.свободный(С0):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	3-Hidroksiizovalerilkarnitin (C5-OH)/Karnitin.serb (C0):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	3-羟基异戊酰肉碱 (C5-OH)/肉碱.游离型 (C0):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 3-羟基异戊酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-OH);3OH-异戊酰肉碱;3-羟基异戊酰基肉碱;3-羟基-异戊酰基肉碱;3-羟基-异戊酰肉碱;3-羟基-异戊酰肉碱, C5-OH;3-羟基异戊酰肉碱, C5-OH;C5OH;C5-OH Ⅲ III 三全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间游离物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）.游离型 (C0);肉毒碱.游离型 (C0) 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）.游离型 (C0);肉毒碱.游离型 (C0);三甲基羟基丁酰甜菜碱.游离型 (C0);游离三甲基羟基丁酰甜菜碱 (C0);游离型三甲基羟基丁酰甜菜碱 (C0);游离型肉毒碱 (C0);游离型肉碱 (C0);游离肉毒碱 (C0);游离肉碱 (C0);肉碱.游离型 (C0) 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）;三甲基羟基丁酰甜菜碱;卡尼丁;总肉毒碱;总肉碱;肉毒碱;肉毒碱.总;肉毒碱.总计;肉碱.总;肉碱.总计血;血液非蛋白结合型非蛋白质结合型

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53172-3 3-Hydroxyisovalerylcarnitine (C5-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS

Term Description

3-Hydroxyisovalerylcarnitine/Octanoylcarnitine is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria.
Source: Regenstrief LOINC

Part Descriptions

LP19309-1 3-Hydroxyisovalerylcarnitine (C5-OH)
3-Hydroxyisovalerylcarnitine is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria. Source: Regenstrief LOINC

LP70166-1 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: 3-Hydroxyisovalerylcarnitine (C5-OH)/Octanoylcarnitine (C8)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 3OH-Isovalerylcarn/C8 DBS-sRto
Display Name: 3-Hydroxyisovalerylcarnitine (C5-OH)/Octanoylcarnitine (C8) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: 3-Hydroxyisovalerylcarnitine (C5-OH)/Octanoylcarnitine (C8), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	3-Hidroxiisovalerilcarnitina (C5-OH)/Octanoilcarnitina (C8):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	3-hidroxiisovalerilcarnitina (C5-OH) / octanoilcarnitina (C8):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	3-hydroxyisovalérylcarnitine (C5-OH)/octanoylcarnitine (C8):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	3-hydroxyisovalérylcarnitine (C5-OH)/Octanoylcarnitine (C8):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	3-hydroxyisovalérylcarnitine (C5-OH)/Octanoylcarnitine (C8):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	3-Idrossiisovalerilcarnitina (C5-OH)/Octanoilcarnitina (C8):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	3-hydroxyisovalerylcarnitine (C5-OH)/octanoylcarnitine (C8):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	3-Hidroxisovalerilcarnitina (C5-OH):SCrto:Pt:SgPapel:Qn: Synonyms: ; 3OH-Isovalerylcarn; 3-hydroxy-isovalerylcarnitine; C5OH; Octanoylcarn; 3OH-Isovalerylcarn; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	3-Гидроксиизовалерилкарнитин (C5-OH)/Октаноилкарнитин (C8):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	3-Hidroksiizovalerilkarnitin (C5-OH)/Oktanoilkarnitin (C8):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	3-羟基异戊酰肉碱 (C5-OH)/辛酰肉碱 (C8):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 3-羟基异戊酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-OH);3OH-异戊酰肉碱;3-羟基异戊酰基肉碱;3-羟基-异戊酰基肉碱;3-羟基-异戊酰肉碱;3-羟基-异戊酰肉碱, C5-OH;3-羟基异戊酰肉碱, C5-OH;C5OH;C5-OH Ⅲ III 三全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液辛酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C8);C8 辛酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C8);C8;辛酰基肉碱;辛酰肉碱, C8

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53178-0 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC) [Moles/volume] in DBS

Part Descriptions

LP70084-6 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)
3-Hydroxyoctanoylcarnitine+Malonylcarnitine is a primary marker for Malonic acidemia and Medium-chain ketoacyl-CoA thiolase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 3OHoctanoyl+Malonylcarn DBS-sCnc
Display Name: C8-OH+C3-DC (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C8-OH+C3-DC, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.70
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	3-hidroxioctanoilcarnitina (C8-OH) + malonilcarnitina (C3-DC):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	3-hüdroksüoktanoüülkarnitiin (C8-OH) + malonüülkarnitiin (C3-DC):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	3-hydroxyoctanoylcarnitine (C8-OH)+malonylcarnitine (C3-DC):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	3-hydroxyoctanoylcarnitine (C8-OH)+ Malonylcarnitine (C3-DC):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	3-Idrossiottanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	3-hydroxyoctanoylcarnitine (C8-OH) + malonylcarnitine (C3-DC):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC):SCnc:Pt:SgPapel:Qn: Synonyms: ; Malonylcarn; C3DC; Dicarboxylic carnitine; 3OHoctanoyl+Malonylcarn; C8-DC; C8OH; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	3-Гидроксиоктаноилкарнитин (C8-OH)+Малонилкарнитин (C3-DC):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	3-Hidroksioktanoilkarnitin (C8-OH)+Malonylkarnitin (C3-DC):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	3-羟基辛酰基肉碱 (C8-OH)+丙二酰肉碱 (C3-DC):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 3-羟基辛酰基肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C8-OH)+丙二酰肉碱 (C3-DC);3-羟辛酰肉碱 (C8-OH)+丙二酰肉碱 (C3-DC) Ⅲ III 三丙二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3-DC);C3DC;C3-DC;C3-DCC;丙二酸单酰肉碱;丙二酰基肉碱;丙二酰基酰基肉碱;丙二酸单酰基肉碱;丙二酸单酰肉碱, C3-DC;酰基肉碱丙二酸单酰基;丙二酸单酰肉碱;丙二酰肉碱克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53402-4 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS

Part Descriptions

LP70084-6 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)
3-Hydroxyoctanoylcarnitine+Malonylcarnitine is a primary marker for Malonic acidemia and Medium-chain ketoacyl-CoA thiolase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 3OHoctanoyl+Malonylcarn/C4 DBS-sRto
Display Name: C8-OH+C3-DC/Butyrylcarnitine+Isobutyrylcarnitine (C4) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C8-OH+C3-DC/Butyrylcarnitine+Isobutyrylcarnitine (C4), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.70
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Butirilcarnitina + Isobutirilcarnitina (C4):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	3-hidroxioctanoilcarnitina (C8-OH) + malonilcarnitina (C3-DC) / butirilcarnitina + isobutirilcarnitina (C4):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	3-hydroxyoctanoylcarnitine (C8-OH)+malonylcarnitine (C3-DC)/butyrylcarnitine+isobutyrylcarnitine (C4):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	3-hydroxyoctanoylcarnitine (C8-OH)+ Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	3-Idrossiottanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Butirrilcarnitina+Isobutirrilcarnitina (C4):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	3-hydroxyoctanoylcarnitine (C8-OH) + malonylcarnitine (C3-DC)/butyrylcarnitine + isobutyrylcarnitine (C4):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Butirilcarnitina+Isobutirilcarnitina (C4):SCrto:Pt:SgPapel:Qn: Synonyms: ; 3OHoctanoyl+Malonylcarn; C8-DC; Malonylcarn; C3DC; Dicarboxylic carnitine; Isobutyrylcarn; Butyryl+Isobutyrylcarn; 3OHoctanoyl+Malonylcarn; C8OH; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	3-Гидроксиоктаноилкарнитин (C8-OH)+Малонилкарнитин (C3-DC)/Бутирилкарнитин+Изобутирилкарнитин (C4):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	3-Hidroksioktanoilkarnitin (C8-OH)+Malonylkarnitin (C3-DC)/Bütirilkarnitin+izobütirilkarnitin (C4):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	3-羟基辛酰基肉碱 (C8-OH)+丙二酰肉碱 (C3-DC)/丁酰肉碱+异丁酰肉碱 (C4):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 3-羟基辛酰基肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C8-OH)+丙二酰肉碱 (C3-DC);3-羟辛酰肉碱 (C8-OH)+丙二酰肉碱 (C3-DC) Ⅲ III 丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）+异丁酰肉碱 (C4);丁酰基肉毒碱+异丁酰基肉毒碱 (C4) 丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）+异丁酰肉碱 (C4);丁酰基肉毒碱+异丁酰基肉毒碱 (C4);丁酰基肉碱+异丁酰基肉碱 (C4);丁酰肉毒碱+异丁酰肉毒碱 (C4) 三丙二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3-DC);C3DC;C3-DC;C3-DCC;丙二酸单酰肉碱;丙二酰基肉碱;丙二酰基酰基肉碱;丙二酸单酰基肉碱;丙二酸单酰肉碱, C3-DC;酰基肉碱丙二酸单酰基;丙二酸单酰肉碱;丙二酰肉碱全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺异丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C4);C4;异丁酰基肉碱;异丁酰肉碱, C4 时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53179-8 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS

Term Description

3-Hydroxyoctanoylcarnitine+Malonylcarnitine/Decanoylcarnitine is a primary marker for Malonic acidemia and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC

Part Descriptions

LP70084-6 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)
3-Hydroxyoctanoylcarnitine+Malonylcarnitine is a primary marker for Malonic acidemia and Medium-chain ketoacyl-CoA thiolase deficiency. Source: Regenstrief LOINC

LP70167-9 Decanoylcarnitine (C10)
Decanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency and Glutaric acidemia type II. Secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 3OHoctanoyl+Malonylcarn/C10 DBS-sRto
Display Name: C8-OH+C3-DC/Decanoylcarnitine (C10) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C8-OH+C3-DC/Decanoylcarnitine (C10), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.61
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	3-hidroxioctanoilcarnitina (C8-OH) + malonilcarnitina (C3-DC) / decanoilcarnitina (C10):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	3-hydroxyoctanoylcarnitine (C8-OH)+malonylcarnitine (C3-DC)/décanoylcarnitine (C10):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Décanoylcarnitine (C10):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	3-hydroxyoctanoylcarnitine (C8-OH)+ Malonylcarnitine (C3-DC)/Décanoylcarnitine (C10):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	3-Idrossiottanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	3-hydroxyoctanoylcarnitine (C8-OH) + malonylcarnitine (C3-DC)/decanoylcarnitine (C10):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10):SCrto:Pt:SgPapel:Qn: Synonyms: ; 3OHoctanoyl+Malonylcarn; C8-DC; Malonylcarn; C3DC; Dicarboxylic carnitine; Decanoylcarn; 3OHoctanoyl+Malonylcarn; C8OH; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	3-Гидроксиоктаноилкарнитин (C8-OH)+Малонилкарнитин (C3-DC)/Деканоилкарнитин (C10):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	3-Hidroksioktanoilkarnitin (C8-OH)+Malonylkarnitin (C3-DC)/Dekanoilkarnitin (C10):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	3-羟基辛酰基肉碱 (C8-OH)+丙二酰肉碱 (C3-DC)/癸酰肉碱 (C10):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 3-羟基辛酰基肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C8-OH)+丙二酰肉碱 (C3-DC);3-羟辛酰肉碱 (C8-OH)+丙二酰肉碱 (C3-DC) Ⅲ III 三丙二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C3-DC);C3DC;C3-DC;C3-DCC;丙二酸单酰肉碱;丙二酰基肉碱;丙二酰基酰基肉碱;丙二酸单酰基肉碱;丙二酸单酰肉碱, C3-DC;酰基肉碱丙二酸单酰基;丙二酸单酰肉碱;丙二酰肉碱全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值癸酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10);C10 癸酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10);C10;癸酰基肉碱;癸酰肉碱, C10 血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

45222-7 Methylmalonylcarnitine (C4-DC) [Moles/volume] in DBS

Part Descriptions

LP19311-7 Methylmalonylcarnitine (C4-DC)
Methylmalonylcarnitine is a primary marker for Succinyl-CoA ligase deficiency. Secondary marker for Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria. Source: Regenstrief Institute

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Methylmalonylcarnitine (C4-DC)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Me-malonylcarn DBS-sCnc
Display Name: C4-DC (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C4-DC, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.17
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Metilmalonilcarnitina (C4-DC):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Metilmalonilcarnitina (C4-DC):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Metüülmalonüülkarnitiin (C4-DC):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Méthylmalonylcarnitine (C4-DC):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Méthylmalonylcarnitine (C4-DC):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Méthylmalonylcarnitine (C4-DC):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Metilmalonilcarnitina (C4-DC):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	methylmalonylcarnitine (C4-DC):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Metilmalonilcarnitina (C4-DC):SCnc:Pt:SgPapel:Qn: Synonyms: ; Me-malonylcarn; Dicarboxylic carnitine; C4-DCC; C4DC; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Метилмалонилкарнитин (C4-DC):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Metilmalonilkarnitin (C4-DC):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	甲基丙二酰肉碱 (C4-DC):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间甲基丙二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C4-DC);C4DC;C4-DC;C4-DCC;Me-丙二酸单酰肉碱;甲基丙二酰基肉碱;甲基丙二酰基酰基肉碱;甲基丙二酸单酰基肉碱;甲基丙二酸单酰肉碱, C4-DC;酰基肉碱甲基丙二酸单酰基;甲基丙二酸单酰肉碱;甲基丙二酰肉碱血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

67709-6 Methylmalonylcarnitine (C4-DC)+3-Hydroxyisovalerylcarnitine (C5-OH) [Moles/volume] in DBS

Term Description

This analyte is measured using the non-derivatized tandem mass spectrometry (MS/MS) method and is not measured when using the derivatized reagents. When using the derivatized reagents, it will instead be measured as two separate analytes C4-DC [LOINC: 45222-7] and C5-OH [LOINC: 50106-4]. A different LOINC code is used for the derivatized or non-derivatized method because based on the reagents used in processing, different sets of analytes become isobaric, which means that they cannot be distinguished on the MS/MS because they have the same molecular weight after reagent processing.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Methylmalonylcarnitine (C4-DC)+3-Hydroxyisovalerylcarnitine (C5-OH)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: C4-DC+C5-OH DBS-sCnc
Display Name: C4-DC+C5-OH (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C4-DC+C5-OH, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.38
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Metilmalonilcarnitina (C4-DC)+3-Hidroxiisovalerilcarnitina (C5-OH):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Metilmalonilcarnitina (C4-DC) + 3-Hidroxiisovalerilcarnitina (C5-OH):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
fr-CA	French (Canada)	Méthylmalonylcarnitine (C4-DC)+3-hydroxyisovalérylcarnitine (C5-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Méthylmalonylcarnitine (C4-DC)+3-hydroxyisovalerylcarnitine (C5-OH):Moles/Volume:Ponctuel:Sang buvard:Numérique:
it-IT	Italian (Italy)	Metilmalonilcarnitina (C4-DC)+3-Idrossiisovalerilcarnitina (C5-OH):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	methylmalonylcarnitine (C4-DC) + 3-hydroxyisovalerylcarnitine (C5-OH):mol/volume:moment:gedroogde bloedspot:kwantitatief:
ru-RU	Russian (Russian Federation)	Метилмалонилкарнитин (C4-DC)+3-Гидроксиизовалерилкарнитин (C5-OH):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Metilmalonilkarnitin (C4-DC)+3-Hidroksiizovalerilkarnitin (C5-OH):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	甲基丙二酰肉碱 (C4-DC)+3-羟基异戊酰肉碱 (C5-OH):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 3-羟基异戊酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-OH);3OH-异戊酰肉碱;3-羟基异戊酰基肉碱;3-羟基-异戊酰基肉碱;3-羟基-异戊酰肉碱;3-羟基-异戊酰肉碱, C5-OH;3-羟基异戊酰肉碱, C5-OH;C5OH;C5-OH Ⅲ III 三克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间甲基丙二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C4-DC);C4DC;C4-DC;C4-DCC;Me-丙二酸单酰肉碱;甲基丙二酰基肉碱;甲基丙二酰基酰基肉碱;甲基丙二酸单酰基肉碱;甲基丙二酸单酰肉碱, C4-DC;酰基肉碱甲基丙二酸单酰基;甲基丙二酸单酰肉碱;甲基丙二酰肉碱甲基丙二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C4-DC)+3-羟基异戊酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-OH) 血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53181-4 Methylmalonylcarnitine (C4-DC)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS

Term Description

Methylmalonylcarnitine/3-Hydroxyisovalerylcarnitine is a primary marker for Succinyl-CoA ligase deficiency. Secondary marker for Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria.
Source: Regenstrief LOINC

Part Descriptions

LP19311-7 Methylmalonylcarnitine (C4-DC)
Methylmalonylcarnitine is a primary marker for Succinyl-CoA ligase deficiency. Secondary marker for Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria. Source: Regenstrief Institute

LP70356-8 3-Hydroxyisovalerylcarnitine (C5-OH)
3-Hydroxyisovalerylcarnitine is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Methylmalonylcarnitine (C4-DC)/3-Hydroxyisovalerylcarnitine (C5-OH)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Me-malonylcarn/C5OH DBS-sRto
Display Name: C4-DC/3-Hydroxyisovalerylcarnitine (C5-OH) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C4-DC/3-Hydroxyisovalerylcarnitine (C5-OH), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Metilmalonilcarnitina (C4-DC)/3-Hidroxiisovalerilcarnitina (C5-OH):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Metilmalonilcarnitina (C4-DC) / 3-hidroxiisovalerilcarnitina (C5-OH):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Méthylmalonylcarnitine (C4-DC)/3-hydroxyisovalérylcarnitine (C5-OH):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Méthylmalonylcarnitine (C4-DC)/3-hydroxyisovalérylcarnitine (C5-OH):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Méthylmalonylcarnitine (C4-DC)/3-hydroxyisovalérylcarnitine (C5-OH):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Metilmalonilcarnitina (C4-DC)/3-Idrossiisovalerilcarnitina (C5-OH):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	methylmalonylcarnitine (C4-DC)/3-hydroxyisovalerylcarnitine (C5-OH):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	3-Hidroxisovalerilcarnitina (C5-OH):SCrto:Pt:SgPapel:Qn: Synonyms: ; Me-malonylcarn; Dicarboxylic carnitine; C4-DCC; C4DC; Me-malonylcarn; 3OH-Isovalerylcarn; 3-hydroxy-isovalerylcarnitine; C5OH; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	Метилмалонилкарнитин (C4-DC)/3-Гидроксиизовалерилкарнитин (C5-OH):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Metilmalonilkarnitin (C4-DC)/3-Hidroksiizovalerilkarnitin (C5-OH):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	甲基丙二酰肉碱 (C4-DC)/3-羟基异戊酰肉碱 (C5-OH):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 3-羟基异戊酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-OH);3OH-异戊酰肉碱 3-羟基异戊酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-OH);3OH-异戊酰肉碱;3-羟基异戊酰基肉碱;3-羟基-异戊酰基肉碱;3-羟基-异戊酰肉碱;3-羟基-异戊酰肉碱, C5-OH;3-羟基异戊酰肉碱, C5-OH;C5OH;C5-OH Ⅲ III 三全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值甲基丙二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C4-DC);C4DC;C4-DC;C4-DCC;Me-丙二酸单酰肉碱;甲基丙二酰基肉碱;甲基丙二酰基酰基肉碱;甲基丙二酸单酰基肉碱;甲基丙二酸单酰肉碱, C4-DC;酰基肉碱甲基丙二酸单酰基;甲基丙二酸单酰肉碱;甲基丙二酰肉碱甲基丙二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C4-DC)+3-羟基异戊酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-OH) 血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53183-0 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH) [Moles/volume] in DBS

Part Descriptions

LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Glut+3OHdecanoylcarn DBS-sCnc
Display Name: C5-DC+C10-OH (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: C5-DC+C10-OH, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Glutarilcarnitina+3-Hidroxidecanoilcarnitina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Glutarilcarnitina (C5-DC) + 3-Hidroxidocanoilcarnitina (C10-OH):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Glutarüülkarnitiin (C5-DC) + 3-hüdroksüdekanoüülkarnitiin (C10-OH):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH):SCnc:Pt:SgPapel:Qn: Synonyms: ; Glut+3OHdecanoylcarn; Glutarylcarn; Dicarboxylic carnitine; C5DC; C10OH; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 3-羟癸酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10-OH);3-羟基癸酰基肉毒碱 (C10-OH);3-羟基癸酰基肉碱 (C10-OH) Ⅲ III 三克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC);C5DC;C5-DC;戊二酰基肉碱;戊二酰肉碱, C5DC;戊二酸单酰基肉碱;戊二酸单酰肉碱;戊二酸单酰肉碱, C5DC 戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC)+3-羟癸酰肉碱 (C10-OH);Glutarylcarn+3OHdecanoylcarn;戊二酰基肉毒碱+3-羟基癸酰基肉毒碱;戊二酰基肉碱+3-羟基癸酰基肉碱;戊二酰肉毒碱+3OH癸酰肉毒碱;戊二酰肉毒碱+3-羟基癸酰肉毒碱;戊二酰肉毒碱+3-羟癸酰肉毒碱;戊二酰肉碱+3OH癸酰肉碱;戊二酰肉碱+3-羟基癸酰肉碱;戊二酸单酰基肉毒碱+3-羟基癸酰基肉毒碱;戊二酸单酰基肉碱+3-羟基癸酰基肉碱;戊二酸单酰肉毒碱+3-羟基癸酰肉毒碱;戊二时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53403-2 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS

Part Descriptions

LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Glut+3OHdecanoylcarn/C4 DBS-sRto
Display Name: C5-DC+C10-OH/Butyrylcarnitine+Isobutyrylcarnitine (C4) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C5-DC+C10-OH/Butyrylcarnitine+Isobutyrylcarnitine (C4), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Glutarilcarnitina+3-Hidroxidecanoilcarnitina/Butirilcarnitina + Isobutirilcarnitina (C4):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Glutarilcarnitina (C5-DC) + 3-Hidroxidocanoilcarnitina (C10-OH) / Butirilcarnitina + Isobutirilcarnitina (C4):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH)/butyrylcarnitine+Isobutyrylcarnitine (C4):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH)/Butirrilcarnitina+Isobutirrilcarnitina (C4):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH)/butyrylcarnitine + isobutyrylcarnitine (C4):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH)/Butirilcarnitina+Isobutirilcarnitina (C4):SCrto:Pt:SgPapel:Qn: Synonyms: ; Glut+3OHdecanoylcarn; Isobutyrylcarn; Glut+3OHdecanoylcarn; Glutarylcarn; Dicarboxylic carnitine; C5DC; Butyryl+Isobutyrylcarn; C10OH; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH)/Бутирилкарнитин+Изобутирилкарнитин (C4):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH)/Bütirilkarnitin+izobütirilkarnitin (C4):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH)/丁酰肉碱+异丁酰肉碱 (C4):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 3-羟癸酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10-OH);3-羟基癸酰基肉毒碱 (C10-OH);3-羟基癸酰基肉碱 (C10-OH) Ⅲ III 丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）+异丁酰肉碱 (C4);丁酰基肉毒碱+异丁酰基肉毒碱 (C4) 丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）+异丁酰肉碱 (C4);丁酰基肉毒碱+异丁酰基肉毒碱 (C4);丁酰基肉碱+异丁酰基肉碱 (C4);丁酰肉毒碱+异丁酰肉毒碱 (C4) 三全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺异丁酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C4);C4;异丁酰基肉碱;异丁酰肉碱, C4 戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC);C5DC;C5-DC;戊二酰基肉碱;戊二酰肉碱, C5DC;戊二酸单酰基肉碱;戊二酸单酰肉碱;戊二酸单酰肉碱, C5DC 戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC)+3-羟癸酰肉碱 (C10-OH);Glutarylcarn+3OHdecanoylcarn;戊二酰基肉毒碱+3-羟基癸酰基肉毒碱;戊二酰基肉碱+3-羟基癸酰基肉碱;戊二酰肉毒碱+3OH癸酰肉毒碱;戊二酰肉毒碱+3-羟基癸酰肉毒碱;戊二酰肉毒碱+3-羟癸酰肉毒碱;戊二酰肉碱+3OH癸酰肉碱;戊二酰肉碱+3-羟基癸酰肉碱;戊二酸单酰基肉毒碱+3-羟基癸酰基肉毒碱;戊二酸单酰基肉碱+3-羟基癸酰基肉碱;戊二酸单酰肉毒碱+3-羟基癸酰肉毒碱;戊二时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53184-8 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS

Term Description

Glutarylcarnitine+3-Hydroxydecanoylcarnitine/3-Hydroxyisovalerylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC

Part Descriptions

LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I. Source: Regenstrief LOINC

LP70356-8 3-Hydroxyisovalerylcarnitine (C5-OH)
3-Hydroxyisovalerylcarnitine is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-Hydroxyisovalerylcarnitine (C5-OH)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Glut+3OHdecanoylcarn/C5OH DBS-sRto
Display Name: C5-DC+C10-OH/3-Hydroxyisovalerylcarnitine (C5-OH) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C5-DC+C10-OH/3-Hydroxyisovalerylcarnitine (C5-OH), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Glutarilcarnitina+3-Hidroxidecanoilcarnitina/3-Hidroxiisovalerilcarnitina (C5-OH):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Glutarilcarnitina (C5-DC) + 3-Hidroxidocanoilcarnitina (C10-OH) / 3-Hidroxiisovalerilcarnitina (C5-OH):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH)/3-hydroxyisovalérylcarnitine (C5-OH):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-hydroxyisovalérylcarnitine (C5-OH):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH)/3-hydroxyisovalérylcarnitine (C5-OH):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH)/3-Idrossiisovalerilcarnitina (C5-OH):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH)/3-hydroxyisovalerylcarnitine (C5-OH):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH)/3-Hidroxisovalerilcarnitina (C5-OH):SCrto:Pt:SgPapel:Qn: Synonyms: ; Glut+3OHdecanoylcarn; Glut+3OHdecanoylcarn; Glutarylcarn; Dicarboxylic carnitine; C5DC; 3OH-Isovalerylcarn; 3-hydroxy-isovalerylcarnitine; C5OH; C10OH; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH)/3-Гидроксиизовалерилкарнитин (C5-OH):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH)/3-Hidroksiizovalerilkarnitin (C5-OH):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH)/3-羟基异戊酰肉碱 (C5-OH):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 3-羟基异戊酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-OH);3OH-异戊酰肉碱 3-羟基异戊酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-OH);3OH-异戊酰肉碱;3-羟基异戊酰基肉碱;3-羟基-异戊酰基肉碱;3-羟基-异戊酰肉碱;3-羟基-异戊酰肉碱, C5-OH;3-羟基异戊酰肉碱, C5-OH;C5OH;C5-OH 3-羟癸酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10-OH);3-羟基癸酰基肉毒碱 (C10-OH);3-羟基癸酰基肉碱 (C10-OH) Ⅲ III 三全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC);C5DC;C5-DC;戊二酰基肉碱;戊二酰肉碱, C5DC;戊二酸单酰基肉碱;戊二酸单酰肉碱;戊二酸单酰肉碱, C5DC 戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC)+3-羟癸酰肉碱 (C10-OH);Glutarylcarn+3OHdecanoylcarn;戊二酰基肉毒碱+3-羟基癸酰基肉毒碱;戊二酰基肉碱+3-羟基癸酰基肉碱;戊二酰肉毒碱+3OH癸酰肉毒碱;戊二酰肉毒碱+3-羟基癸酰肉毒碱;戊二酰肉毒碱+3-羟癸酰肉毒碱;戊二酰肉碱+3OH癸酰肉碱;戊二酰肉碱+3-羟基癸酰肉碱;戊二酸单酰基肉毒碱+3-羟基癸酰基肉毒碱;戊二酸单酰基肉碱+3-羟基癸酰基肉碱;戊二酸单酰肉毒碱+3-羟基癸酰肉毒碱;戊二时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53185-5 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS

Term Description

Glutarylcarnitine+3-Hydroxydecanoylcarnitine/Octanoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency.
Source: Regenstrief LOINC

Part Descriptions

LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I. Source: Regenstrief LOINC

LP70166-1 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Glut+3OHdecanoylcarn/C8 DBS-sRto
Display Name: C5-DC+C10-OH/Octanoylcarnitine (C8) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C5-DC+C10-OH/Octanoylcarnitine (C8), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Glutarilcarnitina+3-Hidroxidecanoilcarnitina/Octanoilcarnitina (C8):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Glutarilcarnitina (C5-DC) + 3-hidroxidocanoilcarnitina (C10-OH) / octanoilcarnitina (C8):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH)/octanoylcarnitine (C8):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH)/Octanoylcarnitine (C8):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH)/Octanoilcarnitina (C8):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH)/octanoylcarnitine (C8):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH)/Octanoilcarnitina (C8):SCrto:Pt:SgPapel:Qn: Synonyms: ; Glut+3OHdecanoylcarn; Octanoylcarn; Glut+3OHdecanoylcarn; Glutarylcarn; Dicarboxylic carnitine; C5DC; C10OH; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH)/Октаноилкарнитин (C8):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH)/Oktanoilkarnitin (C8):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH)/辛酰肉碱 (C8):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 3-羟癸酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10-OH);3-羟基癸酰基肉毒碱 (C10-OH);3-羟基癸酰基肉碱 (C10-OH) Ⅲ III 三全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC);C5DC;C5-DC;戊二酰基肉碱;戊二酰肉碱, C5DC;戊二酸单酰基肉碱;戊二酸单酰肉碱;戊二酸单酰肉碱, C5DC 戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC)+3-羟癸酰肉碱 (C10-OH);Glutarylcarn+3OHdecanoylcarn;戊二酰基肉毒碱+3-羟基癸酰基肉毒碱;戊二酰基肉碱+3-羟基癸酰基肉碱;戊二酰肉毒碱+3OH癸酰肉毒碱;戊二酰肉毒碱+3-羟基癸酰肉毒碱;戊二酰肉毒碱+3-羟癸酰肉毒碱;戊二酰肉碱+3OH癸酰肉碱;戊二酰肉碱+3-羟基癸酰肉碱;戊二酸单酰基肉毒碱+3-羟基癸酰基肉毒碱;戊二酸单酰基肉碱+3-羟基癸酰基肉碱;戊二酸单酰肉毒碱+3-羟基癸酰肉毒碱;戊二时刻;随机;随意;瞬间物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液辛酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C8);C8 辛酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C8);C8;辛酰基肉碱;辛酰肉碱, C8

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53186-3 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS

Term Description

Glutarylcarnitine+3-Hydroxydecanoylcarnitine/Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency. Secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC

Part Descriptions

LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I. Source: Regenstrief LOINC

LP70162-0 Palmitoylcarnitine (C16)
Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Carnitine uptake defect. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16)
Property: SRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Glut+3OHdecanoylcarn/C16 DBS-sRto
Display Name: C5-DC+C10-OH/Palmitoylcarnitine (C16) (DBS) [Molar ratio]
Consumer Name Alpha Get Info: C5-DC+C10-OH/Palmitoylcarnitine (C16), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Glutarilcarnitina+3-Hidroxidecanoilcarnitina/Palmitoilcarnitina (C16):Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Glutarilcarnitina (C5-DC) + 3-Hidroxidocanoilcarnitina (C10-OH) / Palmitoilcarnitina (C16):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH)/palmitoylcarnitine (C16):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH)/Palmitoilcarnitina (C16):Srto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH)/palmitoylcarnitine (C16):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH)/Palmitoilcarnitina (C16):SCrto:Pt:SgPapel:Qn: Synonyms: ; Glut+3OHdecanoylcarn; Palmitoylcarn; Hexadecanoylcarnitine; Glut+3OHdecanoylcarn; Glutarylcarn; Dicarboxylic carnitine; C5DC; C10OH; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; III; Chemistry
ru-RU	Russian (Russian Federation)	Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH)/Пальмитоилкарнитин (C16):МольОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR	Turkish (Turkey)	Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH)/Palmitoilkarnitin (C16):SOrn:Zmlı:Kan.nokta:Kant: Synonyms: SubsOranı
zh-CN	Chinese (China)	戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH)/棕榈酰肉碱 (C16):物质的量比率:时间点:全血.斑点:定量型: Synonyms: 3-羟癸酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C10-OH);3-羟基癸酰基肉毒碱 (C10-OH);3-羟基癸酰基肉碱 (C10-OH) Ⅲ III 三全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叁可用数量表示的;定量性;数值型;数量型;连续数值型标尺戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC);C5DC;C5-DC;戊二酰基肉碱;戊二酰肉碱, C5DC;戊二酸单酰基肉碱;戊二酸单酰肉碱;戊二酸单酰肉碱, C5DC 戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC)+3-羟癸酰肉碱 (C10-OH);Glutarylcarn+3OHdecanoylcarn;戊二酰基肉毒碱+3-羟基癸酰基肉毒碱;戊二酰基肉碱+3-羟基癸酰基肉碱;戊二酰肉毒碱+3OH癸酰肉毒碱;戊二酰肉毒碱+3-羟基癸酰肉毒碱;戊二酰肉毒碱+3-羟癸酰肉毒碱;戊二酰肉碱+3OH癸酰肉碱;戊二酰肉碱+3-羟基癸酰肉碱;戊二酸单酰基肉毒碱+3-羟基癸酰基肉毒碱;戊二酸单酰基肉碱+3-羟基癸酰基肉碱;戊二酸单酰肉毒碱+3-羟基癸酰肉毒碱;戊二时刻;随机;随意;瞬间棕榈酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C16);C16 棕榈酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C16);C16;十六烷酰肉碱;十六醛肉碱;棕榈酰肉碱, C16;棕榈醛肉碱物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值血;血液

Example Units

Unit	Source
{Ratio}	Example UCUM Units

53187-1 Methylglutarylcarnitine (C6-DC) [Moles/volume] in DBS

Part Descriptions

LP69348-8 Methylglutarylcarnitine (C6-DC)
Methylglutarylcarnitine is a primary marker for is a secondary marker for Very long-chain acyl-CoA dehydrogenase deficiency. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Methylglutarylcarnitine (C6-DC)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: MeGlutarylcarn DBS-sCnc
Display Name: Methylglutarylcarnitine (C6-DC) (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Methylglutarylcarnitine (C6-DC), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
53262-2	Carnitine newborn screen panel
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Metilglutarilcarnitina (C6-DC):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Metilglutarilcarnitina (C6-DC):Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Metüülglutarüülkarnitiin (C6-DC):SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Méthylglutarylcarnitine (C6-DC):Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Méthylglutarylcarnitine (C6-DC):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Méthylglutarylcarnitine (C6-DC):Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Metilglutarilcarnitina (C6-DC):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	methylglutarylcarnitine (C6-DC):mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Metilglutarilcarnitina (C6-DC):SCnc:Pt:SgPapel:Qn: Synonyms: ; MeGlutarylcarn; Methylglutaryl carnitine; Dicarboxylic carnitine; C6DC; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Метилглутарилкарнитин (C6-DC):МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Metilglutarilkarnitin (C6-DC):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	甲基戊二酰肉碱 (C6-DC):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间甲基戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C6-DC) 血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

53165-7 Formiminoglutamate [Moles/volume] in DBS

Part Descriptions

LP70083-8 Formiminoglutamate
Formiminoglutamic acid (FIGLU) is an intermediate in the metabolism of histidine. The "FIGLU" test is used to identify deficiency of vitamin B12 or folate deficiency or liver disease. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Wikipedia

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Formiminoglutamate
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Formiminoglutamate DBS-sCnc
Display Name: Formiminoglutamate (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Formiminoglutamate, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.70
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Formiminoglutamato:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Formiminoglutamato:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Formiminoglutamaat:SCnc:Pt:Vereplekk:Qn: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Formiminoglutamate:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Formiminoglutamate:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Formiminoglutammato:SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	formiminoglutamaat:mol/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Formiminoglutamato:SCnc:Pt:SgPapel:Qn: Synonyms: FIGLU; Substance concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Формиминоглутамат:МолКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Formiminoglutamat:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	亚胺甲基谷氨酸:物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 亚胺甲基麸氨酸克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

54078-1 Cystic fibrosis newborn screening panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Cystic fibrosis newborn screening panel
Property: -
Time: Pt
System: ^Patient
Scale: -
Method

Additional Names

Short Name: NB pnl CF Patient
Display Name: Cystic fibrosis NBS panel
Consumer Name Alpha Get Info: Cystic Fibrosis NBS Panel

Basic Attributes

Class: PANEL.CHEM
Type: Laboratory
First Released: Version 2.26
Last Updated: Version 2.77
Order vs. Observation: Order
Common Test Rank Get Info: 8535
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Panel de cribado neonatal fibrosis quística:Propiedades mixtas (sólo paneles):Punto temporal:^paciente:-:
es-MX	Spanish (Mexico)	Panel de cribado neonatal de fibrosis quística:-:Punto temporal:^ Paciente:-:
fr-FR	French (France)	Fibrose kystique dépistage néonatal panel:-:Ponctuel:Patient:-:
fr-BE	French (Belgium)	Panel screening nouveau-né mucoviscidose:-:Temps ponctuel:^Patient:-:
it-IT	Italian (Italy)	Fibrosi cistica, panel screening neonatale:-:Pt:^Paziente:-: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per fibrosi cistica paziente Punto nel tempo (episodio) Set di prescrizione chimica
nl-NL	Dutch (Netherlands)	cystische fibrose pasgeborene screening panel:-:moment:^patiënt:-: Synonyms: cystic fibrosis; taaislijmziekte
pt-BR	Portuguese (Brazil)	Recém nascido triagem fibrose cística painel:-:Pt:^Paciente:-: Synonyms: ; NB Screen Pnl; NBS; NB pnl CF; Cystic fibr; Point in time; Random; SCN; Asymptomatic; Asympt; Pan; Panl; New born; PANEL.CHEMISTRY; PANEL.CHEMISTRY; Chemistry
ru-RU	Russian (Russian Federation)	Кистозный фиброз новорождённый скрининг панель:-:ТчкВрм:^Пациент:-: Synonyms: Муковисцидоз Точка во времени;Момент
zh-CN	Chinese (China)	囊性纤维化新生儿筛查组套:-:时间点:^患者:-: Synonyms: Asympt CF;囊性纤维化（Cystic Fibrosis，CF）;囊性纤维变性;囊纤维化;囊肿性纤维化;囊肿性纤维化（属遗传性胰腺病）;囊肿状纤维化 SCN 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类医疗服务对象;客户;病人;病患;病号;超系统 - 病人囊性纤维化新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;囊性纤维化新生儿筛查组合;囊性纤维变性新生儿筛查医嘱组;囊状纤维变性新生儿筛查医嘱组;胰囊状纤维变性新生儿筛查医嘱组多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验医嘱组合类检验项目医嘱组合类检验项目组合类筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验组组合组合医嘱组合类组套

46769-6 Cystic fibrosis newborn screen interpretation

Part Descriptions

LP56779-9 Cystic fibrosis
An autosomal recessive genetic disease of the exocrine glands. It is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator expressed in several organs including the lung, the pancreas, the biliary system, and the sweat glands. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in airway obstruction, chronic respiratory infections, pancreatic insufficiency, maldigestion, salt depletion, and heat prostration. Source: National Library of Medicine, MeSH 2006

Observation Required in Panel

Required

Fully-Specified Name

Component: Cystic fibrosis
Property: Imp
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: CF DBS-Imp
Display Name: Cystic fibrosis (DBS) [Interp]
Consumer Name Alpha Get Info: Cystic fibrosis, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.19
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation
Common Test Rank Get Info: 3938

Preferred Answer List LL840-0

Answer	Code	Score	Answer ID
In range			LA18592-8
Borderline			LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)			LA11884-6
Out of range			LA18593-6
Out of range requiring further dried blood spot testing for at least one condition			LA12430-7
Out of range requiring immediate referral			LA25817-0
Out of range requiring immediate second-tier testing for at least one condition			LA12431-5
Out of range requiring deferred follow-up for at least one condition			LA18594-4
One or more tests pending			LA16204-2
Specimen unsatisfactory for at least one condition			LA16205-9

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Fibrosis quística:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Fibrosis quística:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Fibrose kystique:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE	French (Belgium)	Mucovscidose:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-CA	French (Canada)	Mucoviscidose:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Fibrosi cistica:Imp:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	cystische fibrose:interpretatie:moment:gedroogde bloedspot:nominaal: Synonyms: cystic fibrosis; taaislijmziekte
pt-BR	Portuguese (Brazil)	Fibrose cística:Imp:Pt:SgPapel:Nom: Synonyms: Cystic fibr; CF; Interpretation; Interp; Impression; Impressions; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; Chemistry
ru-RU	Russian (Russian Federation)	Кистозный фиброз:Впчт:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Муковисцидоз Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Kistik fibrozis:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	囊性纤维化:印象:时间点:全血.斑点:名义型: Synonyms: CF;囊性纤维化（Cystic Fibrosis，CF）;囊性纤维变性;囊纤维化;囊肿性纤维化;囊肿性纤维化（属遗传性胰腺病）;囊肿状纤维化全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释时刻;随机;随意;瞬间血;血液

Third Party Copyright

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57707-2 Cystic fibrosis newborn screening comment-discussion

Part Descriptions

LP56779-9 Cystic fibrosis
An autosomal recessive genetic disease of the exocrine glands. It is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator expressed in several organs including the lung, the pancreas, the biliary system, and the sweat glands. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in airway obstruction, chronic respiratory infections, pancreatic insufficiency, maldigestion, salt depletion, and heat prostration. Source: National Library of Medicine, MeSH 2006

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Cystic fibrosis newborn screening comment-discussion
Property: Txt
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: CF NBS comment
Display Name: Cystic fibrosis newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info: Cystic fibrosis newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 16265

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Fibrosis quística screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX	Spanish (Mexico)	Comentario-discusión sobre el cribado neonatal de fibrosis quística:Texto:Punto temporal:DBS:Narrativo:
fr-FR	French (France)	Fibrose kystique dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE	French (Belgium)	Mucovscidose Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT	Italian (Italy)	Fibrosi cistica , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica Commento/discussione di screening neonatale per fibrosi cistica Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL	Dutch (Netherlands)	cystische fibrose screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel: Synonyms: cystic fibrosis; taaislijmziekte
pt-BR	Portuguese (Brazil)	Fibrose cística na triagem neonatal comentários-discussão:#N/A:Pt:SgPapel:Nar: Synonyms: ; CF NBS comment/discussion; Cystic fibr; Remarks; Text; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Narrative; Report; SCN; Asymptomatic; Asympt; New born; Com; Comm; Commt; Comments; cmnt; cmmt; Chemistry
ru-RU	Russian (Russian Federation)	Кистозный фиброз новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис: Synonyms: Кровь Кровь сухая капля Муковисцидоз Описательный Текст Точка во времени;Момент
tr-TR	Turkish (Turkey)	Kistik fibrozis yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN	Chinese (China)	囊性纤维化新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型: Synonyms: Asympt CF;囊性纤维化（Cystic Fibrosis，CF）;囊性纤维变性;囊纤维化;囊肿性纤维化;囊肿性纤维化（属遗传性胰腺病）;囊肿状纤维化 SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型囊性纤维化新生儿筛查注释/讨论备注备注;评论;注解;说明;评语意见文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验注解短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验血;血液解说解释评定评注评论评语说明

54083-1 CFTR gene mutations found [Identifier] in DBS by Molecular genetics method Nominal

Part Descriptions

LP19684-7 CFTR gene
The CFTR gene (cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)) [HGNC Gene ID:1884] is located on chromosome 7q31.2. This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1080] Source: National Center for Biotechnology Information (NCBI) Gene

Observation Required in Panel

Conditional

Fully-Specified Name

Component: CFTR gene targeted mutation analysis
Property: Prid
Time: Pt
System: Bld.dot
Scale: Nom
Method: Molgen

Additional Names

Short Name: CFTR Mut Anl DBS
Display Name: CFTR gene targeted mutation analysis Molgen Nom (DBS)
Consumer Name Alpha Get Info: CFTR gene targeted mutation analysis, Dried blood spot

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.26
Last Updated: Version 2.73
Change Reason: Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
Order vs. Observation: Both
Common Test Rank Get Info: 17117

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Gen CFTR Analisis de mutaciones:Presencia o identidad:Punto temporal:gota de sangre (papel de filtro):Nom:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen CFTR:Presencia o identidad:Punto temporal:DBS:Nominal:Genética molecular
fr-FR	French (France)	CFTR gène mutation cible trouvée:Identification:Ponctuel:Sang buvard:Résultat nominal:Biologie moléculaire
it-IT	Italian (Italy)	CFTR, gene analisi di mutazione mirata:Prid:Pt:Sangue.su carta da filtro:Nom:Molgen Synonyms: Gene CFTR Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	CFTR-gen doelgerichte mutatie-analyse:identificator:moment:gedroogde bloedspot:nominaal:moleculair genetisch onderzoek Synonyms: CFTR gen molgen targeted
pt-BR	Portuguese (Brazil)	CFTR análise de mutação do gene:Ident:Pt:SgPapel:Nom: Synonyms: Cystic fibrosis transmembrane conductance regulator; CFA; AcC35; AcCC7; CBAVD; MRP7; Identity or presence; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU	Russian (Russian Federation)	CFTR ген исследование на мутацию:ПрИд:ТчкВрм:Кр.Сух.капл:Ном:МолГен Synonyms: Кровь Кровь сухая капля Номинальный;Именной Присутствие или Идентификация Точка во времени;Момент
tr-TR	Turkish (Turkey)	CFTR geni Mutasyon analizi:MevcKimlik:Zmlı:Kan.nokta:Snf:Molgen
zh-CN	Chinese (China)	CFTR 基因突变分析:存在与否或特征标识:时间点:全血.斑点:名义型:分子遗传学类实验室方法 Synonyms: ABC35;ABCC7;CBAVD;CFA;MRP7;囊性纤维化跨膜转运调节物;囊性纤维化转膜传导调节因子;囊性纤维变性跨膜传导调节因子;囊性纤维变性跨膜传导调节蛋白;囊肿性纤维化跨膜传导调节因子;囊肿性纤维化跨膜传导调节蛋白全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变分子病理学;分子病理学试验分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答基因突变分析存在;存在与否;特征标识;身份;身份标识时刻;随机;随意;瞬间血;血液遗传基因;遗传因子;吉恩;生物基因

2077-6 Chloride [Moles/volume] in Sweat

Term Description

Extended monitoring of sweat composition allows for athlete and patient health, welfare and performance to be examined. With this information, corrective modifications to fluid and dietary intake can be made. Sweat contains many ions, including sodium, potassium, calcium, magnesium, and chloride among others. Sweat composition analysis also detects chemical changes indicative of cystic fibrosis, infections and other imbalances. PMID: 28336151
Source: Regenstrief LOINC

Part Descriptions

LP15483-8 Chloride
The chloride ion is formed when the element chlorine picks up one electron to form an anion negatively-charged ion Cl−. The salts of hydrochloric acid contain chloride ions and can also be called chlorides. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Chloride

LP15483-8 Chloride
Chloride is an essential mineral required by humans that is found mainly in body fluids. It is an important, negatively charged ion in the blood, and a major electrolyte that helps to conduct electrical impulses. Electrolytes including chloride are located in the blood, lymph, and intra- and extra-cellular fluid. Chloride helps to regulate osmolarity by offsetting the positively charged sodium and potassium ions in the serum. It combines with hydrogen to form hydrochloric acid in the digestive tract which breaks down proteins, absorbs metallic minerals, and activates intrinsic factor. Chloride is absorbed both actively and passively in order to help maintain extracellular fluid volume. There is a continuous exchange of chloride and bicarbonate that occurs between the red blood cells and the plasma that controls the pH and excretion of carbon dioxide, a waste product of respiration.[https://traceminerals.com/chloride-the-forgotten-essential-mineral/] Source: Regenstrief LOINC

Reference Information

Type	Source	Reference
Webcontent	Lab Tests Online^®Copyright Copyright © 2021 Lab Tests Online. All rights reserved.	Sweat Chloride Test

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Chloride
Property: SCnc
Time: Pt
System: Sweat
Scale: Qn
Method

Additional Names

Short Name: Chloride Sweat-sCnc
Display Name: Chloride (Sweat) [Moles/Vol]
Consumer Name Alpha Get Info: Chloride, Sweat

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 1.0
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 2927

Member of these Panels

LOINC	Long Common Name
74993-7	Chloride and sodium panel [Moles/volume] - Sweat
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Chlorid:Stoffmengenkonzentration:Zeitpunkt:Schweiß:Quantitativ:
de-AT	German (Austria)	Synonyms: Chlorid /SW
es-ES	Spanish (Spain)	Cloro:Concentración de sustancia:Punto temporal:Sudor:Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Cloruro:Concentración de sustancias:Punto temporal:Sudor:Cuantitativo:
es-AR	Spanish (Argentina)	cloruro:concentración de sustancia:punto en el tiempo:sudor:cuantitativo:
et-EE	Estonian (Estonia)	Kloriid:SCnc:Pt:Sw:Qn: Synonyms: Aine kontsentratsioon Higi Juhuslik Kvantitatiivne
fr-FR	French (France)	Chlore:Moles/Volume:Ponctuel:Sueur:Numérique:
fr-BE	French (Belgium)	Chlorure:Concentration de substance:Temps ponctuel:Sueur:Quantitatif: Synonyms: Cl-
fr-CA	French (Canada)	Chlorure:Concentration de substance:Temps ponctuel:Sueur:Quantitatif:
it-IT	Italian (Italy)	Cloruro:SCnc:Pt:Sudore:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio)
ko-KR	Korean (Korea, Republic Of)	염화물:물질농도:검사시점:땀:정량:
nl-NL	Dutch (Netherlands)	chloride:mol/volume:moment:zweet:kwantitatief:
pl-PL	Polish (Poland)	Chlorek:stężenie molowe:punkt w czasie:pot:ilościowy:
pt-BR	Portuguese (Brazil)	Cloreto:SCnc:Pt:Suor:Qn: Synonyms: Cl-; Cl; Substance concentration; Level; Point in time; Random; SWT; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Хлорид:МолКонц:ТчкВрм:Пот:Колич: Synonyms: Количественный Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Klorür:SubKons:Zmlı:Ter:Kant:
zh-CN	Chinese (China)	氯:物质的量浓度:时间点:汗液:定量型: Synonyms: Cl;Cl-;氯离子;氯化物克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间汗

Example Units

Unit	Source
mmol/L	Example UCUM Units
mmol/L	REGENSTRIEF

Related Codes

Code System	Code	Code Text
https://www.phenxtoolkit.org	PX221701010000	PX221701_SweatTest_Borderline
https://www.phenxtoolkit.org	PX221701020000	PX221701_SweatTest_Negative
https://www.phenxtoolkit.org	PX221701030000	PX221701_SweatTest_Positive
https://www.phenxtoolkit.org	221701	sweat_chloride_test

48633-2 Trypsinogen I Free [Mass/volume] in DBS

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Trypsinogen I.free
Property: MCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Trypsinogen I Free DBS-mCnc
Display Name: Trypsinogen I Free (DBS) [Mass/Vol]
Consumer Name Alpha Get Info: Free Trypsinogen I, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.21
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 1406

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Tripsinógeno I libre:Concentración de masa:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Tripsinógeno I libre:Concentración de masa:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Trüpsinogeen I.vaba:MCnc:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Trypsinogène I libre:Masse/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Trypsinogène I.libre:Concentration de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Trypsinogène I.libre:Concentration de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Tripsinogeno I.libero:MCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco Tripsinogeno I Libero
nl-NL	Dutch (Netherlands)	trypsinogeen I.vrij:massa/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Tripsinogênio I.livre:MCnc:Pt:SgPapel:Qn: Synonyms: Mass concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; IRT; Immunoreactive trypsin; FR; Non-protein bound; Chemistry
ru-RU	Russian (Russian Federation)	Трипсиноген I.свободный:МассКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Tripsinojen I.serb:KütlKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	胰蛋白酶原 I.游离型:质量浓度:时间点:全血.斑点:定量型: Synonyms: I 型 IRT 免疫反应性胰朊酶免疫反应性胰蛋白酶免疫反应性胰蛋白酶（Immunoreactive trypsin，IRT）免疫反应性胰蛋白酶元全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间水平;浓度;质量浓度(单位体积) 游离游离型胰朊酶元 I;游离型胰蛋白酶元 I;游离型胰蛋白酶原 I;胰朊酶元 I - 游离型;胰朊酶元 I.游离型;胰蛋白酶元 I - 游离型;胰蛋白酶元 I.游离型;胰蛋白酶原 I - 游离型胰朊酶元 I 胰朊酶元;胰蛋白酶元胰蛋白酶元 I 血;血液非蛋白结合型非蛋白质结合型

Example Units

Unit	Source
ug/L	Example UCUM Units

54076-5 Endocrine newborn screening panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Endocrine newborn screening panel
Property: -
Time: Pt
System: Bld.dot
Scale: -
Method

Additional Names

Short Name: NB pnl Endocrine DBS
Display Name: Endocrine NBS panel (DBS)
Consumer Name Alpha Get Info: Endocrine NBS Panel, Dried blood spot

Basic Attributes

Class: PANEL.CHEM
Type: Laboratory
First Released: Version 2.26
Last Updated: Version 2.77
Order vs. Observation: Order
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Panel endocrino de cribado neonatal:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX	Spanish (Mexico)	Panel de cribado endocrino neonatal:-:Punto temporal:DBS:-:
fr-FR	French (France)	Dépistage néonatal endocrinien panel:-:Ponctuel:Sang buvard:-:
it-IT	Italian (Italy)	Screening panel endocrino neonatale:-:Pt:Sangue.su carta da filtro:-: Synonyms: Chimica Panel screening neonatale Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL	Dutch (Netherlands)	endocriene pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
pt-BR	Portuguese (Brazil)	Recém nascido triagem endócrino painel:-:Pt:SgPapel:-: Synonyms: ; NB Screen Pnl; NBS; NB pnl Endocrine; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; SCN; Asymptomatic; Asympt; Pan; Panl; New born; PANEL.CHEMISTRY; PANEL.CHEMISTRY; Chemistry
ru-RU	Russian (Russian Federation)	Эндокринный новорождённый скрининг панель:-:ТчкВрм:Кр.Сух.капл:-: Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN	Chinese (China)	内分泌新生儿筛查组套:-:时间点:全血.斑点:-: Synonyms: Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 内分泌新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;内分泌新生儿筛查组合内分泌类内分泌类化学成分化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类成分 - 化学 - 内分泌新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验医嘱组合类检验项目医嘱组合类检验项目组合类筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验组组合组合医嘱组合类组套血;血液

57086-1 Congenital adrenal hyperplasia newborn screening panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Congenital adrenal hyperplasia newborn screening panel
Property: -
Time: Pt
System: Bld.dot
Scale: -
Method

Additional Names

Short Name: CAH NB scn pnl DBS
Display Name: Congenital adrenal hyperplasia NBS panel (DBS)
Consumer Name Alpha Get Info: Congenital Adrenal Hyperplasia NBS Panel, Dried blood spot

Basic Attributes

Class: PANEL.CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.77
Order vs. Observation: Order
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
54075-7	Endocrine newborn screening panel (SI units)
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Panel de cribado neonatal de la hiperplasia adrenal congénita:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX	Spanish (Mexico)	Panel de cribado neonatal de hiperplasia suprarrenal congénita:-:Punto temporal:DBS:-:
fr-FR	French (France)	Hyperplasie congénitale des surrénales dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT	Italian (Italy)	Iperplasia surrenale congenita, panel screening neonatale:-:Pt:Sangue.su carta da filtro:-: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per iperplasia surrenale Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco Surrene
nl-NL	Dutch (Netherlands)	congenitale bijnierhyperplasie pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
pt-BR	Portuguese (Brazil)	Hiperplasia adrenal congênita painel de triagem neonatal:#N/A:Pt:SgPapel:-: Synonyms: ; NB Screen Pnl; NBS; CAH NB scn pnl; 21-hydroxylase deficiency; Adrnl; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; SCN; Asymptomatic; Asympt; Pan; Panl; New born; PANEL.CHEMISTRY; PANEL.CHEMISTRY; Chemistry
ru-RU	Russian (Russian Federation)	Врождённая надпочечник гиперплазия новорождённый скрининг панель:-:ТчкВрм:Кр.Сух.капл:-: Synonyms: Врождённая гиперплазия надпочечников Кровь Кровь сухая капля Точка во времени;Момент
zh-CN	Chinese (China)	先天性肾上腺皮质增生新生儿筛查组套:-:时间点:全血.斑点:-: Synonyms: Asympt CAH;先天性肾上腺皮质增生;先天性肾上腺皮质增生症（Congenital Adrenal Hyperplasia，CAH）;先天性肾上腺皮质肥大;先天性肾上腺皮质过度增生 SCN 先天性肾上腺皮质增生新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;先天性肾上腺皮质增生新生儿筛查组合;先天性肾上腺皮质增生症新生儿筛查医嘱组;原发性肾上腺皮质增生新生儿筛查医嘱组全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验医嘱组合类检验项目医嘱组合类检验项目组合类筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验组组合组合医嘱组合类组套肾上腺特异性;肾上腺的血;血液

46758-9 Congenital adrenal hyperplasia newborn screen interpretation

Observation Required in Panel

Required

Fully-Specified Name

Component: Congenital adrenal hyperplasia
Property: Imp
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: CAH DBS-Imp
Display Name: Congenital adrenal hyperplasia (DBS) [Interp]
Consumer Name Alpha Get Info: Congenital adrenal hyperplasia, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.19
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation
Common Test Rank Get Info: 12993

Preferred Answer List LL840-0

Answer	Code	Score	Answer ID
In range			LA18592-8
Borderline			LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)			LA11884-6
Out of range			LA18593-6
Out of range requiring further dried blood spot testing for at least one condition			LA12430-7
Out of range requiring immediate referral			LA25817-0
Out of range requiring immediate second-tier testing for at least one condition			LA12431-5
Out of range requiring deferred follow-up for at least one condition			LA18594-4
One or more tests pending			LA16204-2
Specimen unsatisfactory for at least one condition			LA16205-9

Member of these Panels

LOINC	Long Common Name
54075-7	Endocrine newborn screening panel (SI units)
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Hiperplasia adrenal congenita:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Hiperplasia suprarrenal congénita:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Hyperplasie congénitale des surrénales:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE	French (Belgium)	Hyperplasie congénitale de la surrénale:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal: Synonyms: Surrénale
fr-CA	French (Canada)	Hyperplasie congénitale de la surrénale:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Iperplasia surrenale congenita:Imp:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco Surrene
nl-NL	Dutch (Netherlands)	congenitale bijnierhyperplasie:interpretatie:moment:gedroogde bloedspot:nominaal:
pt-BR	Portuguese (Brazil)	Hiperplasia adrenal congênita:Imp:Pt:SgPapel:Nom: Synonyms: ; CAH; 21-hydroxylase deficiency; Adrnl; Interpretation; Interp; Impression; Impressions; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; Chemistry
ru-RU	Russian (Russian Federation)	Врождённая надпочечников гиперплазия:Впчт:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Впечатление/интерпретация исследования Врождённая гиперплазия надпочечников Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Konjenital adrenal hiperplazi:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	先天性肾上腺皮质增生症:印象:时间点:全血.斑点:名义型: Synonyms: CAH;先天性肾上腺皮质增生;先天性肾上腺皮质增生症（Congenital Adrenal Hyperplasia，CAH）;先天性肾上腺皮质肥大;先天性肾上腺皮质过度增生全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释时刻;随机;随意;瞬间肾上腺特异性;肾上腺的血;血液

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

57706-4 Congenital adrenal hyperplasia newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Congenital adrenal hyperplasia newborn screening comment-discussion
Property: Txt
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: CAH NBS comment
Display Name: Congenital adrenal hyperplasia newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info: Congenital adrenal hyperplasia newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 17585

Member of these Panels

LOINC	Long Common Name
54075-7	Endocrine newborn screening panel (SI units)
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Hiperplasia adrenal congenita screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX	Spanish (Mexico)	Cribado neonatal de hiperplasia suprarrenal congénita comentario-discusión:Texto:Punto temporal:DBS:Narrativo:
fr-FR	French (France)	Hyperplasie congénitale des surrénales dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE	French (Belgium)	Hyperplasie congénitale de la surrénale Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif: Synonyms: Surrénale
it-IT	Italian (Italy)	Iperplasia surrenale congenita , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica Commento/discussione di screening neonatale per iperplasia surrenale congenita Punto nel tempo (episodio) Sangue Spot sangue secco Surrene Testo
nl-NL	Dutch (Netherlands)	congenitale bijnierhyperplasie screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
pt-BR	Portuguese (Brazil)	Hiperplasia adrenal congênita na triagem neonatal comentários-discussão:#N/A:Pt:SgPapel:Nar: Synonyms: ; CAH NBS comment/discussion; 21-hydroxylase deficiency; Remarks; Adrnl; Text; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Narrative; Report; SCN; Asymptomatic; Asympt; New born; Com; Comm; Commt; Comments; cmnt; cmmt; Chemistry
ru-RU	Russian (Russian Federation)	Врождённая надпочечников гиперплазия новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис: Synonyms: Врождённая гиперплазия надпочечников Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR	Turkish (Turkey)	Konjenital adrenal hiperplazi yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN	Chinese (China)	先天性肾上腺皮质增生症新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型: Synonyms: Asympt CAH;先天性肾上腺皮质增生;先天性肾上腺皮质增生症（Congenital Adrenal Hyperplasia，CAH）;先天性肾上腺皮质肥大;先天性肾上腺皮质过度增生 SCN 先天性肾上腺皮质增生新生儿筛查注释/讨论全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型备注备注;评论;注解;说明;评语意见文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验注解短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验肾上腺特异性;肾上腺的血;血液解说解释评定评注评论评语说明

53347-1 11-Deoxycorticosterone [Mass/volume] in DBS

Part Descriptions

LP15283-2 11-Deoxycorticosterone
Deoxycorticosterone is a steroid hormone produced by the adrenal gland that possess mineralocorticoid activity and acts as a precursor to aldosterone. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, 11-deoxycorticosterone (Wikipedia)

LP15283-2 11-Deoxycorticosterone
Deoxycorticosterone (DOC) is a precursor of corticosterone and aldosterone. The elevations of DOC observed in patients with 11-hydroxylase deficiency (the second leading cause of congenital adrenal hyperplasia) may reflect the hypertension observed. Patients with DOC-secreting tumors also exhibit hypertension. Source: Regenstrief Institute

Observation Required in Panel

Conditional

Fully-Specified Name

Component: 11-Deoxycorticosterone
Property: MCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 11DOC DBS-mCnc
Display Name: 11-Deoxycorticosterone (DBS) [Mass/Vol]
Consumer Name Alpha Get Info: 11-Deoxycorticosterone, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
54075-7	Endocrine newborn screening panel (SI units)
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Member of these Groups Get Info

LOINC Group	Group Name
LG41875-2	11-Deoxycorticosterone\|Pt\|Bld.dot

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	11-Desoxicorticosterona:Concentración de masa:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	11-desoxicorticosterona:Concentración de masa:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	11-deoksükortikosteroon:MCnc:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	11-déoxycorticostérone:Masse/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	11-désoxycorticostérone:Concentration de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	11-désoxycorticostérone:Concentration de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	11-Deossicorticosterone:MCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	11-deoxycorticosteron:massa/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	11-Deoxicorticosterona:MCnc:Pt:SgPapel:Qn: Synonyms: ; DOC; 11DOC; 11-DOC; Mass concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	1-Деоксикортикостерон:МассКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: 1-Дезоксикортикостерон Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	11-Deoksikortikosteron:KütlKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	11-脱氧皮质酮:质量浓度:时间点:全血.斑点:定量型: Synonyms: 11DOC;11-DOC;11-脱氧皮质甾酮;11-脱氧肾上腺皮质甾酮 DOC 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类去氧皮质酮可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间水平;浓度;质量浓度(单位体积) 脱氧可体松脱氧皮质甾酮脱氧皮质酮（Deoxycorticosterone，DOC）脱氧肾上腺皮质甾酮血;血液

Example Units

Unit	Source
ng/dL	Example UCUM Units

53338-0 11-Deoxycortisol [Mass/volume] in DBS

Part Descriptions

LP15252-7 11-Deoxycortisol
11-Deoxycortisol, also known as cortexolone or cortodoxone. is an immediate precursor of cortisol and belongs to the class of organic compounds known as 21-hydroxysteroids. 11-Deoxycortisol is a potentially toxic compound. Accumulation of Cortexolone can happen in a defect known as congenital adrenal hyperplasia, which is due to 11-beta-hydroxylase deficiency, resulting in androgen excess, virilization, and hypertension. PMID: 2022736 Source: Regenstrief LOINC, 11-deoxycortisol

Observation Required in Panel

Conditional

Fully-Specified Name

Component: 11-Deoxycortisol
Property: MCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 11DC DBS-mCnc
Display Name: 11-Deoxycortisol (DBS) [Mass/Vol]
Consumer Name Alpha Get Info: 11-Deoxycortisol, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
54075-7	Endocrine newborn screening panel (SI units)
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Member of these Groups Get Info

LOINC Group	Group Name
LG41877-8	11-Deoxycortisol\|Pt\|Bld.dot

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	11-Deoxicortisol:Concentración de masa:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	11-desoxicortisol:Concentración de masa:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	11-deoksükortisool:MCnc:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	11-déoxycortisol:Masse/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	11-déoxycortisol:Concentration de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	11-désoxycortisol:Concentration de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	11-Deossicortisolo:MCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	11-deoxycortisol:massa/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	11-Deoxicortisol:MCnc:Pt:SgPapel:Qn: Synonyms: ; 11DC; Cortexolone; Metopirone; Cortodoxone; Desoxycortisol; Compound S; Mass concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	11-Деоксикортизол:МассКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: 11-Дезоксикортизол Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	11-Deoksikortizol:KütlKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	11-脱氧皮质醇:质量浓度:时间点:全血.斑点:定量型: Synonyms: 11DC;11-脱氧可的索;11-脱氧氢化可的松;11-脱氧皮质甾醇;11-脱氧考的索;化合物 S 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间水平;浓度;质量浓度(单位体积) 血;血液

Example Units

Unit	Source
ug/dL	Example UCUM Units

38473-5 17-Hydroxyprogesterone [Mass/volume] in DBS

Part Descriptions

LP14974-7 17-Hydroxyprogesterone
17-hydroxyprogesterone (17-OHP) is a steroid that is a member of the adrenal biosynthetic pathway and measured in order to diagnose congenital adrenal hyperplasia (CAH). Classic CAH is suspected when virilisation is seen in females at birth. The diagnosis of CAH in boys can be delayed. CAH is characterized by decreased cortisol as a result of a mutation in the CYP21A2 gene, which encodes the enzyme 21-hydroxylase. Increased blood concentrations of 17-OHP indicate a deficiency in 21-hydroxylase since 17-OHP is the substrate for 21-hydroxylase. Reduced levels of 21-hydroxylase negatively affect the production of cortisol. CAH is among the most frequent genetic disorders in humans. The severity of the physical manifestations are related to the degree of 21-hydroxylase deficiency. PMID: 24711560 Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: 17-Hydroxyprogesterone
Property: MCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 17OHP DBS-mCnc
Display Name: 17-Hydroxyprogesterone (DBS) [Mass/Vol]
Consumer Name Alpha Get Info: 17-Hydroxyprogesterone, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.14
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 17486

Member of these Panels

LOINC	Long Common Name
54075-7	Endocrine newborn screening panel (SI units)
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Member of these Groups Get Info

LOINC Group	Group Name
LG50877-6	17-Hydroxyprogesterone\|MCnc\|Pt\|Bld.dot
LG42190-5	17-Hydroxyprogesterone\|Pt\|Bld.dot

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	17-Hydroxyprogesteron:Massenkonzentration:Zeitpunkt:Blut.Tropfen:Quantitativ: Synonyms: 17-OH-Progesteron; 17-alpha-OH-Progesteron
es-ES	Spanish (Spain)	17-hidroxiprogesterona:Concentración de masa:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	17-hidroxiprogesterona:Concentración de masa:Punto temporal:DBS:Cuantitativo:
es-AR	Spanish (Argentina)	17-hidroxiprogesterona:concentración de masa:punto en el tiempo:sangre.gota:cuantitativo:
et-EE	Estonian (Estonia)	17-alfahüdroksüprogesteroon:MCnc:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	17-hydroxyprogestérone:Masse/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	17-hydroxyprogestérone:Concentration de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	17-hydroxyprogestérone:Concentration de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	17-Idrossiprogesterone:MCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco
ko-KR	Korean (Korea, Republic Of)	17-하이드록시프로게스테론:질량농도:검사시점:필터지혈액:정량:
nl-NL	Dutch (Netherlands)	17-hydroxyprogesteron:massa/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	17-hidroxiprogesterona:MCnc:Pt:SgPapel:Qn: Synonyms: ; 17OHP; Hydroxyproges; 17-OHP; 17-hydroxy-progest; 17-OH Progesterone; 17-Hydroxypregn-4-en-3,20-dione; 17-alpha-hydroxyprogesterone; Mass concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Hydroxyprogstron; Chemistry
ru-RU	Russian (Russian Federation)	17-гидроксипрогестерон:МассКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	17-Hidroksiprogesteron:KütlKons:Zmlı:Kan.nokta:Kant:
uk-UA	Ukrainian (Ukraine)	17-Гідроксипрогестерон:Масова Концентрація:МоментЧасу:Суха пляма крові (фільтрувальний папір):Кількісно: Synonyms: 17-alpha-hydroxyprogesterone; 17-Hydroxypregn-4-en-3,20-dione; 17-hydroxy-progest; 17-OH Progesterone; 17OHP; 17-OHP; 17-P; Blood; Chemistry; DBS; Dried blood spot; Endocrine; Endocrinology; Filter paper; FP; Genetics; Heredity; Heritable; Hydroxyproges; Hydroxyprogstron; Inherited; Level; Mass concentration; Point in time; QNT; Quan; Quant; Quantitative; Random; WB; Whole blood
zh-CN	Chinese (China)	17-羟孕酮:质量浓度:时间点:全血.斑点:定量型: Synonyms: 17-Alpha-OH 黄体酮;17-Alpha-羟黄体酮;17-OH 孕甾酮;17-OH 孕酮;17-OH 黄体激素;17-OH 黄体酮;17OHP;17-OHP;17-OH-黄体酮;17-α-OH 黄体酮;17-α-羟黄体酮;17-孕酮-4-en-3,20-二酮;17-羟基-黄体酮;17-羟孕甾酮;17-羟黄体酮;17-羟黄体激素全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间水平;浓度;质量浓度(单位体积) 羟基孕酮血;血液

Example Units

Unit	Source
ng/mL	Example UCUM Units
ng/mL	REGENSTRIEF

53336-4 17-Hydroxyprogesterone+Androstenedione/Cortisol [Mass Ratio] in DBS

Observation Required in Panel

Conditional

Fully-Specified Name

Component: 17-Hydroxyprogesterone+Androstenedione/Cortisol
Property: MRto
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 17OHCS+Androst/Cortis DBS
Display Name: 17-Hydroxyprogesterone+Androstenedione/Cortisol (DBS) [Mass ratio]
Consumer Name Alpha Get Info: 17-Hydroxyprogesterone+Androstenedione/Cortisol, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 16126

Member of these Panels

LOINC	Long Common Name
54075-7	Endocrine newborn screening panel (SI units)
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	17-Hidroxiprogesterona+Androstendiona/Cortisol:Relacion de Masa:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	17-hidroxiprogesterona + androstenediona / cortisol:Relación de masa:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	17-hüdroksüprogesteroon + androsteendioon/kortisool:MRto:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	17-hydroxyprogestérone+androstènedione/cortisol:Masse ratio:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	17-hydroxyprogestérone+Androstènedione/Cortisol:Ratio de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif: Synonyms: Rapport de masse
fr-CA	French (Canada)	17-hydroxyprogestérone+Androstènedione/Cortisol:Ratio de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	17-Idrossiprogesterone+Androstenedione/Cortisolo:MRto:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di Massa Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	17-hydroxyprogesteron + androsteendion/cortisol:massaverhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	17-hidroxiprogesterona+Androstenediona/Cortisol:MCrto:Pt:SgPapel:Qn: Synonyms: ; 17OHCS+Androst; Cortis; Coritsol; Compound F; 17-Hydroxycorticosterone; Androst; gamma-4-Androstenedione; 17OHCS+Androst; 17OHP; Hydroxyproges; 17-OHP; 17-hydroxy-progest; 17-OH Progesterone; 17-Hydroxypregn-4-en-3,20-dione; 17-alpha-hydroxyprogesterone; mRto; Mass concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Hydroxyprogstron; Chemistry
ru-RU	Russian (Russian Federation)	17-Гидроксипрогестерон+Андростендион/Кортизол:МассОтн:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Масс отношение Точка во времени;Момент
tr-TR	Turkish (Turkey)	17-Hidroksiprogesteron+Androstenedion/Kortizol:KütlOr:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	17-羟孕酮+雄烯二酮/皮质醇:质量比率:时间点:全血.斑点:定量型: Synonyms: 17-Alpha-OH 黄体酮;17-Alpha-羟黄体酮;17-OH 孕甾酮;17-OH 孕酮;17-OH 黄体激素;17-OH 黄体酮;17OHP;17-OHP;17-OH-黄体酮;17-α-OH 黄体酮;17-α-羟黄体酮;17-孕酮-4-en-3,20-二酮;17-羟基-黄体酮;17-羟孕甾酮;17-羟黄体酮;17-羟黄体激素 17-羟皮质甾酮;17-羟皮质酮;化合物 F;可的索;氢化可的松;皮质甾醇;考的索 17-羟黄体酮+雄烯二酮 Androst;gamma-4-雄烯二酮;gamma-4-雄甾烯二酮;γ-4-雄烯二酮;γ-4-雄甾烯二酮;雄甾烯二酮全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间来自于同一体系的两种分析物的质量之比;质量比羟基孕酮血;血液

Example Units

Unit	Source
{ratio}	Example UCUM Units

53341-4 21-Deoxycortisol [Mass/volume] in DBS

Part Descriptions

LP65144-5 21-Deoxycortisol
Plasma 21-deoxycortisol (21DF) is an excellent marker of 21-hydroxylase deficiency. Currently, it is the only marker able to detect heterozygous carriers with 21-hydroxylase deficiency after Adrenocorticotropic Hormone (ACTH) stimulation. The syndrome of congenital adrenal hyperplasia (CAH) comprises the spectrum of autosomal recessive enzymatic disorders that impair cortisol biosynthesis. The hormonal pattern and clinical manifestations result from hyperstimulation of the adrenal cortex by excessive production of ACTH, untied from the negative feedback exerted by reduced cortisol levels, and the ultimate accumulation of F precursors and androgens. These abnormalities predispose the female newborn to ambiguous genitalia (female pseudohermaphroditism) and precocious puberty that may occur in both sexes. CAH due to 21-hydroxylase deficiency (21OHD) comprises nearly 90% of all cases, with an estimated worldwide incidence of 1 in 14,000 live births. Because 21-deoxycortisol (21DF) is an 11b-hydroxylase (11bOH) derivative of 17-hydroxyprogesterone (17OHP), its serum levels are parallel and proportionally elevated in patients with 21OHD but decreased or undetectable in those with 11b-hydroxylase deficiency (11bOHD). Due to the marked buildup of 17OHP in 21OHD, this precursor steroid can proceed directly to 11-hydroxylation, producing distinct elevations of 21DF. PMID: 16551734, PMID: 10731638 Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.) Source: Human Metabolome Database, 21-Deoxycortisol

Observation Required in Panel

Conditional

Fully-Specified Name

Component: 21-Deoxycortisol
Property: MCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: 21DC DBS-mCnc
Display Name: 21-Deoxycortisol (DBS) [Mass/Vol]
Consumer Name Alpha Get Info: 21-Deoxycortisol, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
54075-7	Endocrine newborn screening panel (SI units)
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Member of these Groups Get Info

LOINC Group	Group Name
LG43267-0	21-Deoxycortisol\|Pt\|Bld.dot

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	21-Deoxicortisol:Concentración de masa:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	21-desoxicortisol:Concentración de masa:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	21-deoksükortisool:MCnc:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	21-déoxycortisol:Masse/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	21-déoxycortisol:Concentration de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	21-désoxycortisol:Concentration de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	21-Deossicortisolo:MCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	21-deoxycortisol:massa/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	21-Deoxicortisol:MCnc:Pt:SgPapel:Qn: Synonyms: ; 21DC; Mass concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	21-Дезоксикортизол:МассКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	21-Deoksikortizol:KütlKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	21-脱氧皮质醇:质量浓度:时间点:全血.斑点:定量型: Synonyms: 21DC;21-脱氧可的索;21-脱氧氢化可的松;21-脱氧皮质甾醇;21-脱氧考的索全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间水平;浓度;质量浓度(单位体积) 血;血液

Example Units

Unit	Source
ug/dL	Example UCUM Units

53343-0 Androstenedione [Mass/volume] in DBS

Part Descriptions

LP14493-8 Androstenedione
Androstenedione (also known as 4-androstenedione) is a 19-carbon steroid hormone produced in the adrenal glands and the gonads as an intermediate step in the biochemical pathway that produces the androgen testosterone and the estrogens estrone and estradiol. It is the common precursor of male and female sex hormones. Some androstenedione is also secreted into the plasma, and may be converted in peripheral tissues to testosterone and estrogens. Androstenedione originates either from the conversion of dehydroepiandrosterone or from 17-hydroxyprogesterone. It is further converted to either testosterone or estrone. The production of adrenal androstenedione is governed by ACTH, while production of gonadal androstenedione is controled by gonadotropins. In premenopausal women the adrenal glands and ovaries each produce about half of the total androstendione (about 3 mgday). Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Androstenedione (Wikipedia)

LP14493-8 Androstenedione
Testing for androstenedione is used to diagnose viralizing syndromes including congenital adrenal hyperplasia, female virilization, hirsutism, polycystic ovarian disease, Stein-Levethal syndrome. and to detect abuse of anabolic steroids. It is also a drug- an anabolic steroid- used to enhance atheletic performance, but banned as an OTC drug by the FDA in 2004. Source: Regenstrief Institute

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Androstenedione
Property: MCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Androst DBS-mCnc
Display Name: Androstenedione (DBS) [Mass/Vol]
Consumer Name Alpha Get Info: Androstenedione, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
54075-7	Endocrine newborn screening panel (SI units)
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Member of these Groups Get Info

LOINC Group	Group Name
LG42767-0	Androstenedione\|Pt\|Bld.dot\|286.415 g/mole

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Androstenediona:Concentración de masa:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Androstenediona:Concentración de masa:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Androsteendioon:MCnc:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Androstènedione:Masse/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Androstènedione:Concentration de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Androstènedione:Concentration de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Androstenedione:MCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	androsteendion:massa/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Androstenediona:MCnc:Pt:SgPapel:Qn: Synonyms: ; Androst; gamma-4-Androstenedione; Mass concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Андростендион:МассКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Androstenediyon:KütlKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	雄烯二酮:质量浓度:时间点:全血.斑点:定量型: Synonyms: Androst;gamma-4-雄烯二酮;gamma-4-雄甾烯二酮;γ-4-雄烯二酮;γ-4-雄甾烯二酮;雄甾烯二酮全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间水平;浓度;质量浓度(单位体积) 血;血液

Example Units

Unit	Source
ng/dL	Example UCUM Units

53345-5 Cortisol [Mass/volume] in DBS

Part Descriptions

LP14161-1 Cortisol
Cortisol is a glucocorticoid produced in the adrenal cortex. A synthetic version of this same chemical is called hydrocortisone and manufactured as medication. Cortisol is not to be confused with cortisone, a closely related compound with much less (PubChem calls it "inactive") biologic activity. Cortisone is also offered as a drug, and it is converted to cortisol (the active form) in the liver. They both have a circadian rhythm with peak in the AM (around 8AM) and trough in the evening (around midnight), but this shifts according to sleep habits (work shifts). The morning measurement, which should be high, is most useful for diagnosing Addison's disease (too little cortisol) and the evening measurement, which should be low, is the most useful for diagnosing Cushing's disease (too much cortisol). Salivary cortisol may be a more sensitive measure than serum or plasma. Source: Regenstrief Help

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Cortisol
Property: MCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Cortis DBS-mCnc
Display Name: Cortisol (DBS) [Mass/Vol]
Consumer Name Alpha Get Info: Cortisol, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
54075-7	Endocrine newborn screening panel (SI units)
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Member of these Groups Get Info

LOINC Group	Group Name
LG43172-2	Cortisol\|Pt\|Bld.dot\|362.466 g/mole

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Cortisol:Concentración de masa:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Cortisol:Concentración de masa:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Kortisool:MCnc:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Cortisol:Masse/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Cortisol:Concentration de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Cortisol:Concentration de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Cortisolo:MCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	cortisol:massa/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Cortisol:MCnc:Pt:SgPapel:Qn: Synonyms: ; Cortis; Coritsol; Compound F; 17-Hydroxycorticosterone; Mass concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Кортизол:МассКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Kortizol:KütlKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	皮质醇:质量浓度:时间点:全血.斑点:定量型: Synonyms: 17-羟皮质甾酮;17-羟皮质酮;化合物 F;可的索;氢化可的松;皮质甾醇;考的索全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间水平;浓度;质量浓度(单位体积) 血;血液

Example Units

Unit	Source
ug/dL	Example UCUM Units

54090-6 Thyroid newborn screening panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Thyroid newborn screening panel
Property: -
Time: Pt
System: Bld.dot
Scale: -
Method

Additional Names

Short Name: NB pnl Thyroid DBS
Display Name: Thyroid NBS panel (DBS)
Consumer Name Alpha Get Info: Thyroid NBS Panel, Dried blood spot

Basic Attributes

Class: PANEL.CHEM
Type: Laboratory
First Released: Version 2.26
Last Updated: Version 2.77
Order vs. Observation: Order
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Panel de tiroides en cribado neonatal:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX	Spanish (Mexico)	Panel de detección de tiroides para recién nacidos:-:Punto temporal:DBS:-:
fr-FR	French (France)	Anomalie thyroïdienne dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT	Italian (Italy)	Tiroide, panel screening neonatale:-:Pt:Sangue.su carta da filtro:-: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per tiroide Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL	Dutch (Netherlands)	thyroïd pasgeborene screening panel:-:moment:gedroogde bloedspot:-: Synonyms: thyroid pasgeborene screening panel
pt-BR	Portuguese (Brazil)	Recém nascido triagem tireóide painel:-:Pt:SgPapel:-: Synonyms: ; NB pnl Thyroid; NB Screen Pnl; NBS; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; SCN; Asymptomatic; Asympt; Pan; Panl; New born; PANEL.CHEMISTRY; PANEL.CHEMISTRY; Chemistry
ru-RU	Russian (Russian Federation)	Щитовидная скрининг панель:-:ТчкВрм:Кр.Сух.капл:-: Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN	Chinese (China)	甲状腺新生儿筛查组套:-:时间点:全血.斑点:-: Synonyms: Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验医嘱组合类检验项目医嘱组合类检验项目组合类甲状腺新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;甲状腺新生儿筛查组合甲状腺特异性甲状腺的筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验组组合组合医嘱组合类组套血;血液

46762-1 Congenital hypothyroidism newborn screen interpretation

Part Descriptions

LP56766-6 Congenital hypothyroidism
A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA. Source: National Library of Medicine, MeSH 2006

Observation Required in Panel

Required

Fully-Specified Name

Component: Congenital hypothyroidism
Property: Imp
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: CH DBS-Imp
Display Name: Congenital hypothyroidism (DBS) [Interp]
Consumer Name Alpha Get Info: Congenital hypothyroidism, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.19
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation
Common Test Rank Get Info: 14221

Preferred Answer List LL840-0

Answer	Code	Score	Answer ID
In range			LA18592-8
Borderline			LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)			LA11884-6
Out of range			LA18593-6
Out of range requiring further dried blood spot testing for at least one condition			LA12430-7
Out of range requiring immediate referral			LA25817-0
Out of range requiring immediate second-tier testing for at least one condition			LA12431-5
Out of range requiring deferred follow-up for at least one condition			LA18594-4
One or more tests pending			LA16204-2
Specimen unsatisfactory for at least one condition			LA16205-9

Member of these Panels

LOINC	Long Common Name
54075-7	Endocrine newborn screening panel (SI units)
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)
54077-3	Thyroid newborn screening panel (SI units)

Member of these Groups Get Info

LOINC Group	Group Name
LG18377-8	Congenital hypothyroidism\|Imp\|Pt\|Bld.dot

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Hipotiroidismo Congenito:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Hipotiroidismo congénito:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Hypothyroïdisme congénital:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE	French (Belgium)	Hypothyroïdie congénitale:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-CA	French (Canada)	Hypothyroïdie congénitale:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Ipotiroidismo congenito:Imp:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	congenitale hypothyreoïdie:interpretatie:moment:gedroogde bloedspot:nominaal:
pt-BR	Portuguese (Brazil)	Hipotireoidismo congênito:Imp:Pt:SgPapel:Nom: Synonyms: ; CH; Interpretation; Interp; Impression; Impressions; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; Chemistry
ru-RU	Russian (Russian Federation)	Врождённый гипотиреоидизм:Впчт:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Konjenital hipotiroizm:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	先天性甲状腺机能减退:印象:时间点:全血.斑点:名义型: Synonyms: CH;先天性甲状腺功能低下;先天性甲状腺机能减退（Congenital Hypothyroidism，CH）全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释时刻;随机;随意;瞬间甲状腺功能减退;甲减;甲状腺功能低下症;甲状腺功能减退症血;血液

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

57705-6 Congenital hypothyroidism newborn screening comment-discussion

Part Descriptions

LP56766-6 Congenital hypothyroidism
A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA. Source: National Library of Medicine, MeSH 2006

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Congenital hypothyroidism newborn screening comment-discussion
Property: Txt
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: CH NBS comment
Display Name: Congenital hypothyroidism newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info: Congenital hypothyroidism newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 19792

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Hipotiroidismo Congenito screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX	Spanish (Mexico)	Hipotiroidismo congénito cribado neonatal comentario-discusión:Texto:Punto temporal:DBS:Narrativo:
fr-FR	French (France)	Hypothyroïdisme congénital dépistage néonatal (commentaire-discusssion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE	French (Belgium)	Hypothyroïdie congénitale Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT	Italian (Italy)	Ipotiroidismo congenito , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica Commento/discussione di screening neonatale per ipotiroidismo congenito Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL	Dutch (Netherlands)	congenitale hypothyreoïdie screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
pt-BR	Portuguese (Brazil)	Hipotireoidismo congênito na triagem neonatal comentários-discussão:#N/A:Pt:SgPapel:Nar: Synonyms: ; CH NBS comment/discussion; Remarks; Text; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Narrative; Report; SCN; Asymptomatic; Asympt; New born; Com; Comm; Commt; Comments; cmnt; cmmt; Chemistry
ru-RU	Russian (Russian Federation)	Врождённый гипотиреоидизм новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR	Turkish (Turkey)	Konjenital hipotiroizm yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN	Chinese (China)	先天性甲状腺机能减退新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型: Synonyms: Asympt CH;先天性甲状腺功能低下;先天性甲状腺机能减退（Congenital Hypothyroidism，CH） SCN 先天性甲状腺功能减退症新生儿筛查注释/讨论全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型备注备注;评论;注解;说明;评语意见文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验注解甲状腺功能减退;甲减;甲状腺功能低下症;甲状腺功能减退症短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验血;血液解说解释评定评注评论评语说明

31144-9 Thyroxine (T4) [Mass/volume] in DBS

Part Descriptions

LP15900-1 Thyroxine
The major hormone derived from the thyroid gland. Thyroxine is synthesized via the iodination of tyrosine (monoiodotyrosine) and the coupling of iodotyrosine (diiodotyrosine) in thyroglobulin. Thyroxine is separated from thyroglobulin by proteolysis and released in the blood. Thyroxine is peripherally deiodinated to form triiodothyronine which exerts broad stimulatory effects on cell metabolism. Source: National Library of Medicine, MeSH 2006

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Thyroxine
Property: MCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: T4 DBS-mCnc
Display Name: T4 (DBS) [Mass/Vol]
Consumer Name Alpha Get Info: T4, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.07
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 580

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Member of these Groups Get Info

LOINC Group	Group Name
LG46372-5	Thyroxine\|Pt\|Bld.dot\|776.874 g/mole

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Tiroxina:Concentración de masa:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Tiroxina:Concentración de masa:Punto temporal:DBS:Cuantitativo:
es-AR	Spanish (Argentina)	tiroxina:concentración de masa:punto en el tiempo:sangre.gota:cuantitativo:
et-EE	Estonian (Estonia)	Türoksiin:MCnc:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Thyroxine:Masse/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Thyroxine:Concentration de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif: Synonyms: T4
fr-CA	French (Canada)	Thyroxine:Concentration de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Tiroxina:MCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco
ko-KR	Korean (Korea, Republic Of)	티록신:질량농도:검사시점:필터지혈액:정량:
nl-NL	Dutch (Netherlands)	thyroxine:massa/volume:moment:gedroogde bloedspot:kwantitatief:
pl-PL	Polish (Poland)	Tyroksyna:stężenie masowe:punkt w czasie:sucha kropla krwi:ilościowy:
pt-BR	Portuguese (Brazil)	Tiroxina:MCnc:Pt:SgPapel:Qn: Synonyms: ; T4; T-4; Thyrox; Thyrx; Thyroxin; Levothyroxine; Levo-thyroxine; L-thyroxine; Mass concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Тироксин:МассКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Tiroksin:KütlKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	甲状腺素:质量浓度:时间点:全血.斑点:定量型: Synonyms: T4;T-4;四碘甲状腺原氨酸;四碘甲腺原氨酸;左旋四碘甲状腺原氨酸;左旋四碘甲腺原氨酸;左旋甲状腺氨酸;左旋甲状腺素;左旋甲状腺素（Levothyroxine，Levo-thyroxine，L-thyroxine）;甲状腺氨酸全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间水平;浓度;质量浓度(单位体积) 血;血液

Example Units

Unit	Source
ug/dL	Example UCUM Units
mcg/dL	REGENSTRIEF

29575-8 Thyrotropin [Units/volume] in DBS

Part Descriptions

LP14487-0 Thyrotropin
A glycoprotein hormone secreted by the adenohypophysis (anterior pituitary gland). Thyrotropin stimulates the thyroid gland by increasing the iodide transport, synthesis and release of thyroid hormones (thyroxine and triiodothyronine). Thyrotropin consists of two noncovalently linked subunits, alpha and beta. Within a species, the alpha subunit is common in the pituitary glycoprotein hormones (TSH; Luteinizing hormone and FSH), but the beta subunit is unique and confers its biological specificity. Source: National Library of Medicine, MeSH 2006

Reference Information

Type	Source	Reference
Webcontent	Lab Tests Online^®Copyright Copyright © 2021 Lab Tests Online. All rights reserved.	Thyroid-stimulating Hormone (TSH)

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Thyrotropin
Property: ACnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: TSH DBS-aCnc
Display Name: TSH Qn (DBS)
Consumer Name Alpha Get Info: Thyroid Stimulating Hormone (TSH; Thyrotropin), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.03
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 581

Member of these Panels

LOINC	Long Common Name
54075-7	Endocrine newborn screening panel (SI units)
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)
54077-3	Thyroid newborn screening panel (SI units)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Tirotropina:Concentración arbitraria:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Tirotropina:Concentración arbitraria:Punto temporal:DBS:Cuantitativo:
es-AR	Spanish (Argentina)	tirotrofina:concentración arbitraria:punto en el tiempo:sangre.gota:cuantitativo:
et-EE	Estonian (Estonia)	Kilpnääret stimuleeriv hormoon:Acnc:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Türotropiin Veri
fr-FR	French (France)	Thyréostimuline:Arbitraire/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Hormone thyréostimulante:Concentration arbitraire:Temps ponctuel:Sang sur papier filtre:Quantitatif: Synonyms: TSH
fr-CA	French (Canada)	Hormone thyréostimulante:Concentration arbitraire:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Tireotropina:ACnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione Arbitraria Punto nel tempo (episodio) Sangue Spot sangue secco TSH
ko-KR	Korean (Korea, Republic Of)	갑상샘자극호르몬:임의농도:검사시점:필터지혈액:정량:
nl-NL	Dutch (Netherlands)	TSH:eenheid/volume:moment:gedroogde bloedspot:kwantitatief:
pl-PL	Polish (Poland)	Tyreotropina:stężenie w jednostkach umownych:punkt w czasie:sucha kropla krwi:ilościowy:
pt-BR	Portuguese (Brazil)	Tirotropina:ACnc:Pt:SgPapel:Qn: Synonyms: ; TSH; Thyrotropic hormone; Thyroid stimulating hormone; Arbitrary concentration; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Тиреотропин:ПроизвКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Произвольная концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Tirotropin:SçKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	促甲状腺激素:任意型浓度:时间点:全血.斑点:定量型: Synonyms: TSH;促甲状腺素;甲状腺刺激激素;甲状腺刺激激素（Thyroid Stimulating Hormone，TSH）任意型浓度(单位体积);任意浓度;单位体积的任意单位数;人工型浓度全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
m[IU]/L	Example UCUM Units
mIU/L	eCHN

54079-9 Galactosemia newborn screening panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Galactosemia newborn screening panel
Property: -
Time: Pt
System: Bld.dot
Scale: -
Method

Additional Names

Short Name: NB pnl Galactosemia DBS
Display Name: Galactosemia NBS panel (DBS)
Consumer Name Alpha Get Info: Galactosemia NBS Panel, Dried blood spot

Basic Attributes

Class: PANEL.CHEM
Type: Laboratory
First Released: Version 2.26
Last Updated: Version 2.77
Order vs. Observation: Order
Common Test Rank Get Info: 18618
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Panel de cribado neonatal para galactosemia:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX	Spanish (Mexico)	Panel de cribado neonatal de galactosemia:-:Punto temporal:DBS:-:
fr-FR	French (France)	Galactosémie dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT	Italian (Italy)	Galattosemia, panel di screening neonatale:-:Pt:Sangue.su carta da filtro:-: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per galattosemia Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL	Dutch (Netherlands)	galactosemie pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
pt-BR	Portuguese (Brazil)	Recém nascido triagem galactosemia painel:-:Pt:SgPapel:-: Synonyms: ; NB Screen Pnl; NBS; NB pnl Galactosemia; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; SCN; Asymptomatic; Asympt; Pan; Panl; New born; PANEL.CHEMISTRY; PANEL.CHEMISTRY; Chemistry
ru-RU	Russian (Russian Federation)	Галактоземия новорождённый скрининг панель:-:ТчкВрм:Кр.Сух.капл:-: Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN	Chinese (China)	半乳糖血症新生儿筛查组套:-:时间点:全血.斑点:-: Synonyms: Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类半乳糖血症新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;半乳糖血症新生儿筛查组合多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验医嘱组合类检验项目医嘱组合类检验项目组合类筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验组组合组合医嘱组合类组套血;血液

46737-3 Galactosemias newborn screen interpretation

Observation Required in Panel

Required

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Galactosemias
Property: Imp
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: Galactosemias DBS-Imp
Display Name: Galactosemias (DBS) [Interp]
Consumer Name Alpha Get Info: Galactosemias, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.19
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation
Common Test Rank Get Info: 1405

Preferred Answer List LL840-0

Answer	Code	Score	Answer ID
In range			LA18592-8
Borderline			LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)			LA11884-6
Out of range			LA18593-6
Out of range requiring further dried blood spot testing for at least one condition			LA12430-7
Out of range requiring immediate referral			LA25817-0
Out of range requiring immediate second-tier testing for at least one condition			LA12431-5
Out of range requiring deferred follow-up for at least one condition			LA18594-4
One or more tests pending			LA16204-2
Specimen unsatisfactory for at least one condition			LA16205-9

Member of these Panels

LOINC	Long Common Name
54080-7	Galactosemia newborn screening panel (SI units)
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Galactosemias:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Galactosemias:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Galactosémie:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE	French (Belgium)	Galactosémies:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-CA	French (Canada)	Galactosémies:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Galattosemie:Imp:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
ko-KR	Korean (Korea, Republic Of)	갈락토스혈증:해석:검사시점:필터지혈액:순위척도:
nl-NL	Dutch (Netherlands)	galactosemieën:interpretatie:moment:gedroogde bloedspot:nominaal:
pt-BR	Portuguese (Brazil)	Galactosemia:Imp:Pt:SgPapel:Nom: Synonyms: Interpretation; Interp; Impression; Impressions; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; Chemistry
ru-RU	Russian (Russian Federation)	Галактоземии:Впчт:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Galaktozemiler:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	半乳糖血症:印象:时间点:全血.斑点:名义型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类半乳糖血症类印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释时刻;随机;随意;瞬间血;血液

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

57704-9 Galactosemias newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Galactosemias newborn screening comment-discussion
Property: Txt
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: Galactosemias NBS comment
Display Name: Galactosemias newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info: Galactosemias newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 17841

Member of these Panels

LOINC	Long Common Name
54080-7	Galactosemia newborn screening panel (SI units)
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Galactosemias screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX	Spanish (Mexico)	Comentario-discusión sobre la detección de galactosemias en recién nacidos:Texto:Punto temporal:DBS:Narrativo:
fr-FR	French (France)	Galactosémie dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE	French (Belgium)	Galactosémies Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT	Italian (Italy)	Galattosemie , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica Commento/discussione di screening neonatale per galattosemie Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL	Dutch (Netherlands)	galactosemieën screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
pt-BR	Portuguese (Brazil)	Galactosemias na triagem neonatal comentários-discussão:#N/A:Pt:SgPapel:Nar: Synonyms: ; Galactosemias NBS comment/discussion; Remarks; Text; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Narrative; Report; SCN; Asymptomatic; Asympt; New born; Com; Comm; Commt; Comments; cmnt; cmmt; Chemistry
ru-RU	Russian (Russian Federation)	Галактоземии новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR	Turkish (Turkey)	Galaktozemiler yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN	Chinese (China)	半乳糖血症新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型: Synonyms: Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类半乳糖血症新生儿筛查注释/讨论半乳糖血症类叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型备注备注;评论;注解;说明;评语意见文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验注解短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验血;血液解说解释评定评注评论评语说明

54084-9 Galactose [Mass/volume] in DBS

Part Descriptions

LP15263-4 Galactose
Galactose (Gal) (also called brain sugar) is a type of sugar found in dairy products, in sugar beets and other gums and mucilages. It is also synthesized by the body, where it forms part of glycolipids and glycoproteins in several tissues. It is considered a nutritive sweetener because it has food energy. Galactose is less sweet than glucose and not very water-soluble. Galactan is a polymer of the sugar galactose. It is found in hemicellulose and can be converted to galactose by hydrolysis. Galactose is a monosaccharide constituent, together with glucose, of the disaccharide lactose. The hydrolysis of lactose to glucose and galactose is catalyzed by the enzyme beta-galactosidase, a lactase. In the human body, glucose is changed into galactose in order to enable the mammary glands to secrete lactose. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Galactose (Wikipedia)

LP15263-4 Galactose
An aldohexose that occurs naturally in the D-form in lactose, cerebrosides, gangliosides, and mucoproteins. Deficiency of galactosyl-1-phosphate uridyltransferase (GALACTOSE-1-PHOSPHATE URIDYL-TRANSFERASE DEFICIENCY DISEASE) causes an error in galactose metabolism called GALACTOSEMIA, resulting in elevations of galactose in the blood. Source: National Library of Medicine, MeSH 2006

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Galactose
Property: MCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Galactose DBS-mCnc
Display Name: Galactose (DBS) [Mass/Vol]
Consumer Name Alpha Get Info: Galactose, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.26
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 14170

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Member of these Groups Get Info

LOINC Group	Group Name
LG46708-0	Galactose\|Pt\|Bld.dot\|180.156 g/mole

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Galactosa:Concentración de masa:Punto temporal:DBS:Cuantitativo:
es-ES	Spanish (Spain)	Galactosa:Concentración de masa:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
et-EE	Estonian (Estonia)	Galaktoos:MCnc:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA	French (Canada)	Galactose:Concentration de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Galactose:Masse/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Galactose:Concentration de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Galattosio:MCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	galactose:massa/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Galactose:MCnc:Pt:SgPapel:Qn: Synonyms: Cerebrose; Mass concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU	Russian (Russian Federation)	Галактоза:МассКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Galaktoz:KütlKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	半乳糖:质量浓度:时间点:全血.斑点:定量型: Synonyms: 乳单糖;脑半乳糖;脑糖全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间水平;浓度;质量浓度(单位体积) 血;血液

Example Units

Unit	Source
mg/dL	Example UCUM Units

33288-2 Galactose 1 phosphate uridyl transferase [Presence] in DBS

Part Descriptions

LP14026-6 Galactose 1 phosphate uridyl transferase
Galactose-1-phosphate uridylyltransferase (or GALT) is an enzyme (EC 2.7.7.12) responsible for converting ingested galactose to glucose. GALT catalyzes the second step of the Leloir pathway of galactose metabolism. The expression of GALT is controlled by the actions of the FOXO3 gene. Deficiency of GALT causes classic galactosemia and can be fatal in the newborn period if lactose is not removed from the diet. Symptoms include ovarian failure, cataracts, and neurologic deficits. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Galactose-1-phosphate uridylyltransferase

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Galactose 1 phosphate uridyl transferase
Property: PrThr
Time: Pt
System: Bld.dot
Scale: Ord
Method

Additional Names

Short Name: Gal1PUT DBS Ql
Display Name: Galactose 1 phosphate uridyl transferase Ql (DBS)
Consumer Name Alpha Get Info: Galactose 1 phosphate uridyl transferase, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.09
Last Updated: Version 2.73
Change Reason: The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation: Both
Common Test Rank Get Info: 1408

Member of these Panels

LOINC	Long Common Name
54080-7	Galactosemia newborn screening panel (SI units)
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-AT	German (Austria)	Synonyms: Gal.-1PUT ql. /BT
es-ES	Spanish (Spain)	Galactosa 1 fosfato uridil transferasa:PrThr:Punto temporal:gota de sangre (papel de filtro):Ord:
es-MX	Spanish (Mexico)	Galactosa 1 fosfato uridil transferasa:Presencia o umbral:Punto temporal:DBS:Ordinal:
es-AR	Spanish (Argentina)	galactosa 1 fosfato uridiltransferasa:concentración arbitraria:punto en el tiempo:sangre.gota:ordinal:
et-EE	Estonian (Estonia)	Galaktoos-1-fosfaaturidüüli transferaas:PrThr:Pt:Vereplekk:Ord: Synonyms: Järgarvuline Juhuslik Veri
fr-FR	French (France)	Galactose-1-phosphate uridyl transférase:Présence/Seuil:Ponctuel:Sang buvard:Qualitatif:
fr-BE	French (Belgium)	Galactose 1-phosphate uridyl transférase:PrThr:Temps ponctuel:Sang sur papier filtre:Ordinal:
fr-CA	French (Canada)	Galactose 1-phosphate uridyl transférase:Présence-Seuil:Temps ponctuel:Sang sur papier filtre:Ordinal:
it-IT	Italian (Italy)	Galattosio 1 fosfato uridil transferasi:PrThr:Pt:Sangue.su carta da filtro:Ord: Synonyms: Chimica Presenza o Soglia Punto nel tempo (episodio) Sangue Spot sangue secco
ko-KR	Korean (Korea, Republic Of)	갈락토스 1 인산염 우리딜 전이효소:임의농도:검사시점:필터지혈액:순위척도:
nl-NL	Dutch (Netherlands)	galactose-1-fosfaaturidyltransferase:aanwezigheid:moment:gedroogde bloedspot:ordinaal:
pt-BR	Portuguese (Brazil)	Galactose 1 Fosfato uridil transferase:ACnc:Pt:SgPapel:Ord: Synonyms: Hexose-1-phosphate uridyltransferase; Phos; Phosphrous; Phosphorous; Pi; i Phos; PO4; Phosphorus; Inorganic phosphate; Phosphate total; Gal1PUT; Galactosemia; GALT; GAL1PTS; GAL-1-PUT; GPUT; Gal1PO4; GAL-1-PO4; GAL-1-P; Cerebrose; Arbitrary concentration; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; I; Chemistry
ru-RU	Russian (Russian Federation)	Галактозо 1 фосфат уридил трансфераза:PrThr:ТчкВрм:Кр.Сух.капл:Пор: Synonyms: Галактозо-1-фосфат Кровь Кровь сухая капля Порядковый Точка во времени;Момент Уридилтрансфераза
tr-TR	Turkish (Turkey)	Galaktoz 1 fosfat üridil transferaz:MevcEşik:Zmlı:Kan.nokta:Srl: Synonyms: Mevcut
zh-CN	Chinese (China)	半乳糖-1-磷酸尿苷酰转移酶:存在情况或阈值:时间点:全血.斑点:序数型: Synonyms: Ⅰ GAL-1-P;Gal1PO4;GAL-1-PO4 GAL1PTS;Gal1PUT;GAL-1-PUT;GALT;GPUT;半乳糖血症 I i Phos;Phos;Pi;PO4;总磷酸;无机磷酸;无机磷酸;磷酸根;磷酸盐;磷酸酯乳单糖;脑半乳糖;脑糖依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值）己糖-1-磷酸尿苷酰转移酶时刻;随机;随意;瞬间血;血液

42906-8 Galactose 1 phosphate uridyl transferase [Enzymatic activity/volume] in DBS

Part Descriptions

LP14026-6 Galactose 1 phosphate uridyl transferase
Galactose-1-phosphate uridylyltransferase (or GALT) is an enzyme (EC 2.7.7.12) responsible for converting ingested galactose to glucose. GALT catalyzes the second step of the Leloir pathway of galactose metabolism. The expression of GALT is controlled by the actions of the FOXO3 gene. Deficiency of GALT causes classic galactosemia and can be fatal in the newborn period if lactose is not removed from the diet. Symptoms include ovarian failure, cataracts, and neurologic deficits. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Galactose-1-phosphate uridylyltransferase

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Galactose 1 phosphate uridyl transferase
Property: CCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Gal1PUT DBS-cCnc
Display Name: Galactose 1 phosphate uridyl transferase (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info: Galactose 1 phosphate uridyl transferase, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.16
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 19799

Member of these Panels

LOINC	Long Common Name
54080-7	Galactosemia newborn screening panel (SI units)
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Galactosa 1 fosfato uridil transferasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Galactosa 1 fosfato uridil transferasa:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Galaktoos-1-fosfaaturidüüli transferaas:CCnc:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Galactose-1-phosphate uridyl transférase:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Galactose 1-phosphate uridyl transférase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Galactose 1-phosphate uridyl transférase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Galattosio 1 fosfato uridil transferasi:CCnC:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
ko-KR	Korean (Korea, Republic Of)	갈락토스 1 인산염 우리딜 전이효소:촉매농도:검사시점:필터지혈액:정량:
nl-NL	Dutch (Netherlands)	galactose-1-fosfaaturidyltransferase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Galactose 1 Fosfato uridil transferase:CCnc:Pt:SgPapel:Qn: Synonyms: Hexose-1-phosphate uridyltransferase; Phos; Phosphrous; Phosphorous; Pi; i Phos; PO4; Phosphorus; Inorganic phosphate; Phosphate total; Gal1PUT; Galactosemia; GALT; GAL1PTS; GAL-1-PUT; GPUT; Gal1PO4; GAL-1-PO4; GAL-1-P; Cerebrose; Catalytic Concentration; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; I; Chemistry
ru-RU	Russian (Russian Federation)	Галактозо 1 фосфат уридил трансфераза:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Галактозо-1-фосфат Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент Уридилтрансфераза
tr-TR	Turkish (Turkey)	Galaktoz 1 fosfat üridil transferaz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	半乳糖-1-磷酸尿苷酰转移酶:催化浓度:时间点:全血.斑点:定量型: Synonyms: Ⅰ GAL-1-P;Gal1PO4;GAL-1-PO4 GAL1PTS;Gal1PUT;GAL-1-PUT;GALT;GPUT;半乳糖血症 I i Phos;Phos;Pi;PO4;总磷酸;无机磷酸;无机磷酸;磷酸根;磷酸盐;磷酸酯乳单糖;脑半乳糖;脑糖催化浓度(单位体积);单位体积内酶的单位数全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺己糖-1-磷酸尿苷酰转移酶时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
nmol/h/mL	Example UCUM Units

40842-7 Galactose 1 phosphate [Mass/volume] in DBS

Part Descriptions

LP15586-8 Galactose 1 phosphate
Galactose-1-phosphate uridylyltransferase (or GALT) is an enzyme (EC 2.7.7.12) responsible for converting ingested galactose to glucose. Deficiency of GALT causes galactosemia. The GALT gene is located on the ninth chromosome (9p13). Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Galactose 1 phosphate (Wikipedia)

LP15586-8 Galactose 1 phosphate
Measures galactose-1-phosphate concentrations when galactosemia patients are challenged with galactose load. Source: Regenstrief Institute

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Galactose 1 phosphate
Property: MCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Gal1PO4 DBS-mCnc
Display Name: Galactose 1 phosphate (DBS) [Mass/Vol]
Consumer Name Alpha Get Info: Galactose 1 phosphate, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.15
Last Updated: Version 2.70
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Galaktose-1-Phosphat:Massenkonzentration:Zeitpunkt:Blut.Tropfen:Quantitativ:
es-ES	Spanish (Spain)	Galactosa 1 fosfato:Concentración de masa:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Fosfato de galactosa 1:Concentración de masa:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Galaktoos-1-fosfaat:MCnc:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-FR	French (France)	Galactose-1-phosphate:Masse/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Galactose-1-phosphate:Concentration de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-CA	French (Canada)	Galactose-1-phosphate:Concentration de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Galattosio 1 fosfato:MCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco
ko-KR	Korean (Korea, Republic Of)	갈락토스 1 인산염:질량농도:검사시점:필터지혈액:정량:
nl-NL	Dutch (Netherlands)	galactose-1-fosfaat:massa/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Galactose 1 Fosfato:MCnc:Pt:SgPapel:Qn: Synonyms: Phos; Phosphrous; Phosphorous; Pi; i Phos; PO4; Phosphorus; Inorganic phosphate; Phosphate total; Gal1PO4; GAL-1-PO4; GAL-1-P; Cerebrose; Mass concentration; Level; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; I; Chemistry
ru-RU	Russian (Russian Federation)	Галактоза 1 фосфат:МассКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Галактозо-1-фосфат Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Galaktoz 1 fosfat:KütlKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	半乳糖-1-磷酸:质量浓度:时间点:全血.斑点:定量型: Synonyms: Ⅰ GAL-1-P;Gal1PO4;GAL-1-PO4 I i Phos;Phos;Pi;PO4;总磷酸;无机磷酸;无机磷酸;磷酸根;磷酸盐;磷酸酯乳单糖;脑半乳糖;脑糖全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间水平;浓度;质量浓度(单位体积) 血;血液

Example Units

Unit	Source
mg/dL	Example UCUM Units

54081-5 Hemoglobinopathies newborn screening panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Hemoglobinopathies newborn screening panel
Property: -
Time: Pt
System: Bld.dot
Scale: -
Method

Additional Names

Short Name: NB pnl Hemoglobinopathies DBS
Display Name: Hemoglobinopathies NBS panel (DBS)
Consumer Name Alpha Get Info: Hemoglobinopathies NBS Panel, Dried blood spot

Basic Attributes

Class: PANEL.HEM/BC
Type: Laboratory
First Released: Version 2.26
Last Updated: Version 2.77
Order vs. Observation: Order
Common Test Rank Get Info: 19207
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Panel de cribado neonatal de hemoglobinopatías:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX	Spanish (Mexico)	Panel de cribado neonatal de hemoglobinopatías:-:Punto temporal:DBS:-:
fr-FR	French (France)	Hémoglobinopathies dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
fr-BE	French (Belgium)	Panel screening nouveau-né Hémoglobinopathies:-:Temps ponctuel:Sang sur papier filtre:-:
it-IT	Italian (Italy)	Emoglobinopatie, panel screening neonatale:-:Pt:Sangue.su carta da filtro:-: Synonyms: Ematologia (coagulazione) conta differenziale Panel screening neonatale Panel screening neonatale per emoglobinopatie Punto nel tempo (episodio) Sangue Set di prescrizione per ematologia e conta del san Spot sangue secco
nl-NL	Dutch (Netherlands)	hemoglobineopathieën pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
pl-PL	Polish (Poland)	Test przesiewowy wykrywania hemoglobinopatii u noworodków:-:punkt w czasie:sucha kropla krwi:-:
pt-BR	Portuguese (Brazil)	Hemoglobinopatias triagem neonatal,painel:-:Pt:SgPapel:-: Synonyms: ; NB Screen Pnl; NBS; NB pnl Hemoglobinopathies; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; SCN; Asymptomatic; Asympt; Pan; Panl; New born; PANEL.HEMATOLOGY& CELL COUNTS; PANEL.HEMATOLOGY& CELL COUNTS; HEMATOLOGY/CELL COUNTS
ru-RU	Russian (Russian Federation)	Гемоглобинопатии новорождённый скрининг панель:-:ТчкВрм:Кр.Сух.капл:-: Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN	Chinese (China)	血红蛋白病新生儿筛查组套:-:时间点:全血.斑点:-: Synonyms: Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.血液学/细胞计数;组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）.血液学与细胞计数;医嘱组类.血液学/细胞计数;医嘱组类.血液学与细胞计数;实验室医嘱组类.血液学与细胞计数;血液学与细胞计数医嘱组;血液学与细胞计数医嘱组类;实验室医嘱组类.血液学/细胞计数医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验医嘱组合类检验项目医嘱组合类检验项目组合类筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验组组合组合医嘱组合类组套血;血液血液学/细胞计数;血液学与细胞计数血红蛋白病新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;血红蛋白病新生儿筛查组合

64116-7 Hemoglobin observations newborn screening panel

Fully-Specified Name

Component: Hemoglobin observations newborn screening panel
Property: -
Time: Pt
System: Bld.dot
Scale: -
Method

Additional Names

Short Name: Hb observations NBS pnl DBS
Display Name: Hemoglobin observations NBS panel (DBS)
Consumer Name Alpha Get Info: Hemoglobin Observations NBS Panel, Dried blood spot

Basic Attributes

Class: PANEL.HEM/BC
Type: Laboratory
First Released: Version 2.36
Last Updated: Version 2.77
Order vs. Observation: Order
Common Test Rank Get Info: 14194
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Hämoglobinuntersuchung Neugeborenenscreening (Liste):-:Zeitpunkt:Blut.Tropfen:-:
es-ES	Spanish (Spain)	Perfilde screening de observaciones de hemoglobina en recien nacidos:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX	Spanish (Mexico)	Observaciones de hemoglobina panel de detección de recién nacidos:-:Punto temporal:DBS:-:
fr-FR	French (France)	Hemoglobine dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT	Italian (Italy)	Osservazioni emoglobina, panel screening neonatale:-:Pt:Sangue.su carta da filtro:-: Synonyms: Ematologia (coagulazione) conta differenziale Panel screening neonatale Panel screening neonatale per osservazioni emoglob Punto nel tempo (episodio) Sangue Set di prescrizione per ematologia e conta del san Spot sangue secco
nl-NL	Dutch (Netherlands)	hemoglobine waarnemingen pasgeborene screeningspanel:-:moment:gedroogde bloedspot:-:
pl-PL	Polish (Poland)	Badania hemoglobiny w panelu przesiewowym noworodka:-:punkt w czasie:sucha kropla krwi:-:
ru-RU	Russian (Russian Federation)	Гемоглобина исследования новорожденных скринига панель:-:ТчкВрм:Кр.Сух.капл:-: Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN	Chinese (China)	血红蛋白观测新生儿筛查组套:-:时间点:全血.斑点:-: Synonyms: Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.血液学/细胞计数;组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）.血液学与细胞计数;医嘱组类.血液学/细胞计数;医嘱组类.血液学与细胞计数;实验室医嘱组类.血液学与细胞计数;血液学与细胞计数医嘱组;血液学与细胞计数医嘱组类;实验室医嘱组类.血液学/细胞计数医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验医嘱组合类检验项目医嘱组合类检验项目组合类氧血红蛋白;血红朊;血红素;血色素筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验组组合组合医嘱组合类组套血;血液血液学/细胞计数;血液学与细胞计数血红蛋白观测新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;血红蛋白观测新生儿筛查组合;血红蛋白观测结果新生儿筛查医嘱组;血红蛋白观察新生儿筛查医嘱组;血红蛋白观察指标新生儿筛查医嘱组;血红蛋白观察结果新生儿筛查医嘱组

64122-5 Hemoglobins that can be presumptively identified based on available controls in DBS

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Hemoglobins that can be presumptively identified based on available controls
Property: Find
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: Hb pres ID based on avail contr DBS
Display Name: Hemoglobins that can be presumptively identified based on available controls Nom (DBS)
Consumer Name Alpha Get Info: Dried blood spot Hemoglobins that can be presumptively identified based on available controls test

Basic Attributes

Class: HEM/BC
Type: Laboratory
First Released: Version 2.36
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Example" to fit the current LOINC model.
Order vs. Observation: Observation

Example Answer List LL1511-6

Answer	Code	Score	Answer ID
Hb F			LA16208-3
Hb A			LA16209-1
Hb A - indeterminate			LA16210-9
Hb A2			LA16211-7
Hb A2 - elevated			LA16212-5
Hb Bart's - low level			LA16213-3
Hb Bart's - highly elevated			LA16214-1
Hb C			LA13002-3
Hb Constant Spring			LA16215-8
Hb D			LA13003-1
Hb D-Punjab			LA16216-6
Hb D/G			LA16217-4
Hb E			LA13005-6
Hb G			LA16218-2
Hb G-Philadelphia			LA16219-0
Hb H			LA16220-8
Hb Lepore Boston			LA16221-6
Hb O-Arab			LA16222-4
Hb S			LA13007-2
Hb unidentified			LA16223-2

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Hämoglobine, die auf der Grundlage der verfügbaren Kontrollen vermutlich identifiziert werden können:Befund:Zeitpunkt:Blut.Tropfen:Nominal:
es-ES	Spanish (Spain)	Hemoglobinas que presuntamente pueden ser identificadas basandose en controles disponibles:Hallazgo:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Hemoglobinas que pueden identificarse presuntamente según los controles disponibles.:Hallazgo:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Hémoglobines identifiées par contrôles disponibles:Recherche:Ponctuel:Sang buvard:Résultat nominal:
it-IT	Italian (Italy)	Emoglobine che possono essere presumibilmente identificate in base ai controlli disponibili:Osservazione:Pt:Sangue.su carta da filtro:Nom: Synonyms: Ematologia (coagulazione) conta differenziale Osservazione Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	hemoglobinen die vermoedelijk kunnen worden geïdentificeerd op basis van beschikbaar controle materiaal:bevinding:moment:gedroogde bloedspot:nominaal:
pl-PL	Polish (Poland)	Hemoglobiny, które można wstępnie zidentyfikować na podstawie dostępnych badań kontrolnych:wynik:punkt w czasie:sucha kropla krwi:cecha:
ru-RU	Russian (Russian Federation)	Гемоглобин, который может быть предположительно идентифицирован на основании доступных средств:Находка:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Hemoglobinler, mevcut kontrol göre varsayımsal olarak saptanabilen:Bulgu:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	依据现有对照可推测确定的血红蛋白:发现:时间点:全血.斑点:名义型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论时刻;随机;随意;瞬间血;血液血液学/细胞计数;血液学与细胞计数

64117-5 Most predominant hemoglobin in DBS

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Most predominant hemoglobin
Property: Find
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: Most predominant Hb DBS
Display Name: Most predominant hemoglobin Nom (DBS)
Consumer Name Alpha Get Info: Most predominant hemoglobin, Dried blood spot

Basic Attributes

Class: HEM/BC
Type: Laboratory
First Released: Version 2.36
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Example" to fit the current LOINC model.
Order vs. Observation: Observation

Example Answer List LL1511-6

Answer	Code	Score	Answer ID
Hb F			LA16208-3
Hb A			LA16209-1
Hb A - indeterminate			LA16210-9
Hb A2			LA16211-7
Hb A2 - elevated			LA16212-5
Hb Bart's - low level			LA16213-3
Hb Bart's - highly elevated			LA16214-1
Hb C			LA13002-3
Hb Constant Spring			LA16215-8
Hb D			LA13003-1
Hb D-Punjab			LA16216-6
Hb D/G			LA16217-4
Hb E			LA13005-6
Hb G			LA16218-2
Hb G-Philadelphia			LA16219-0
Hb H			LA16220-8
Hb Lepore Boston			LA16221-6
Hb O-Arab			LA16222-4
Hb S			LA13007-2
Hb unidentified			LA16223-2

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Häufigstes Hämoglobin:Befund:Zeitpunkt:Blut.Tropfen:Nominal:
es-ES	Spanish (Spain)	Hemoglobina mas predominante:Hallazgo:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Hemoglobina más predominante:Hallazgo:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Hémoglobine prédominante:Recherche:Ponctuel:Sang buvard:Résultat nominal:
it-IT	Italian (Italy)	Emoglobina più predominante:Osservazione:Pt:Sangue.su carta da filtro:Nom: Synonyms: Ematologia (coagulazione) conta differenziale Osservazione Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	meest overheersende hemoglobine:bevinding:moment:gedroogde bloedspot:nominaal:
ru-RU	Russian (Russian Federation)	Наиболее преобладающий гемоглобин:Находка:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	En yaygın hemoglobin:Bulgu:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	最主要的血红蛋白:发现:时间点:全血.斑点:名义型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论时刻;随机;随意;瞬间最主要血红蛋白;最具优势的血红蛋白;第一位最主要的血红蛋白氧血红蛋白;血红朊;血红素;血色素血;血液血液学/细胞计数;血液学与细胞计数

64118-3 Second most predominant hemoglobin in DBS

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Second most predominant hemoglobin
Property: Find
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: 2nd most predominant Hb DBS
Display Name: Second most predominant hemoglobin Nom (DBS)
Consumer Name Alpha Get Info: Second most predominant hemoglobin, Dried blood spot

Basic Attributes

Class: HEM/BC
Type: Laboratory
First Released: Version 2.36
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Example" to fit the current LOINC model.
Order vs. Observation: Observation

Example Answer List LL1511-6

Answer	Code	Score	Answer ID
Hb F			LA16208-3
Hb A			LA16209-1
Hb A - indeterminate			LA16210-9
Hb A2			LA16211-7
Hb A2 - elevated			LA16212-5
Hb Bart's - low level			LA16213-3
Hb Bart's - highly elevated			LA16214-1
Hb C			LA13002-3
Hb Constant Spring			LA16215-8
Hb D			LA13003-1
Hb D-Punjab			LA16216-6
Hb D/G			LA16217-4
Hb E			LA13005-6
Hb G			LA16218-2
Hb G-Philadelphia			LA16219-0
Hb H			LA16220-8
Hb Lepore Boston			LA16221-6
Hb O-Arab			LA16222-4
Hb S			LA13007-2
Hb unidentified			LA16223-2

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Zweithäufigstes Hämoglobin:Befund:Zeitpunkt:Blut.Tropfen:Nominal:
es-ES	Spanish (Spain)	Segunda hemoglobina mas predominante:Hallazgo:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Segunda hemoglobina más predominante:Hallazgo:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Hémoglobine prédominante 2nd:Recherche:Ponctuel:Sang buvard:Résultat nominal:
it-IT	Italian (Italy)	Seconda emoglobina più predominante:Osservazione:Pt:Sangue.su carta da filtro:Nom: Synonyms: Ematologia (coagulazione) conta differenziale Osservazione Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	tweede meest overheersende hemoglobine:bevinding:moment:gedroogde bloedspot:nominaal:
ru-RU	Russian (Russian Federation)	Второй наиболее преобладающий гемоглобин:Находка:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	İkinci en yaygın hemoglobin:Bulgu:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	第2位最主要的血红蛋白:发现:时间点:全血.斑点:名义型: Synonyms: 2nd 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论时刻;随机;随意;瞬间最主要血红蛋白;最具优势的血红蛋白;第一位最主要的血红蛋白氧血红蛋白;血红朊;血红素;血色素第 2 个第二第二（Second，2nd）第二个第二位最主要的血红蛋白血;血液血液学/细胞计数;血液学与细胞计数

64119-1 Third most predominant hemoglobin in DBS

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Third most predominant hemoglobin
Property: Find
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: 3rd most predominant Hb DBS
Display Name: Third most predominant hemoglobin Nom (DBS)
Consumer Name Alpha Get Info: Third most predominant hemoglobin, Dried blood spot

Basic Attributes

Class: HEM/BC
Type: Laboratory
First Released: Version 2.36
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Example" to fit the current LOINC model.
Order vs. Observation: Observation

Example Answer List LL1511-6

Answer	Code	Score	Answer ID
Hb F			LA16208-3
Hb A			LA16209-1
Hb A - indeterminate			LA16210-9
Hb A2			LA16211-7
Hb A2 - elevated			LA16212-5
Hb Bart's - low level			LA16213-3
Hb Bart's - highly elevated			LA16214-1
Hb C			LA13002-3
Hb Constant Spring			LA16215-8
Hb D			LA13003-1
Hb D-Punjab			LA16216-6
Hb D/G			LA16217-4
Hb E			LA13005-6
Hb G			LA16218-2
Hb G-Philadelphia			LA16219-0
Hb H			LA16220-8
Hb Lepore Boston			LA16221-6
Hb O-Arab			LA16222-4
Hb S			LA13007-2
Hb unidentified			LA16223-2

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Dritthäufigstes Hämoglobin:Befund:Zeitpunkt:Blut.Tropfen:Nominal:
es-ES	Spanish (Spain)	Tercera hemoglobina mas predominante:Hallazgo:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Tercera hemoglobina más predominante:Hallazgo:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Hémoglobine prédominante 3ème:Recherche:Ponctuel:Sang buvard:Résultat nominal:
it-IT	Italian (Italy)	Terza emoglobina più predominante:Osservazione:Pt:Sangue.su carta da filtro:Nom: Synonyms: Ematologia (coagulazione) conta differenziale Osservazione Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	derde meest overheersende hemoglobine:bevinding:moment:gedroogde bloedspot:nominaal:
ru-RU	Russian (Russian Federation)	Третий наиболее преобладающий гемоглобин:Находка:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Üçüncü en yaygın hemoglobin:Bulgu:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	第3位最主要的血红蛋白:发现:时间点:全血.斑点:名义型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论时刻;随机;随意;瞬间最主要血红蛋白;最具优势的血红蛋白;第一位最主要的血红蛋白氧血红蛋白;血红朊;血红素;血色素第3 第三位最主要的血红蛋白血;血液血液学/细胞计数;血液学与细胞计数

64120-9 Fourth most predominant hemoglobin in DBS

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Fourth most predominant hemoglobin
Property: Find
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: 4th most predominant Hb DBS
Display Name: Fourth most predominant hemoglobin Nom (DBS)
Consumer Name Alpha Get Info: Fourth most predominant hemoglobin, Dried blood spot

Basic Attributes

Class: HEM/BC
Type: Laboratory
First Released: Version 2.36
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Example" to fit the current LOINC model.
Order vs. Observation: Observation

Example Answer List LL1511-6

Answer	Code	Score	Answer ID
Hb F			LA16208-3
Hb A			LA16209-1
Hb A - indeterminate			LA16210-9
Hb A2			LA16211-7
Hb A2 - elevated			LA16212-5
Hb Bart's - low level			LA16213-3
Hb Bart's - highly elevated			LA16214-1
Hb C			LA13002-3
Hb Constant Spring			LA16215-8
Hb D			LA13003-1
Hb D-Punjab			LA16216-6
Hb D/G			LA16217-4
Hb E			LA13005-6
Hb G			LA16218-2
Hb G-Philadelphia			LA16219-0
Hb H			LA16220-8
Hb Lepore Boston			LA16221-6
Hb O-Arab			LA16222-4
Hb S			LA13007-2
Hb unidentified			LA16223-2

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Vierthäufigstes Hämoglobin:Befund:Zeitpunkt:Blut.Tropfen:Nominal:
es-ES	Spanish (Spain)	Cuarta hemoglobina mas predominante:Hallazgo:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Cuarto hemoglobina más predominante:Hallazgo:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Hémoglobine prédominante 4ème:Recherche:Ponctuel:Sang buvard:Résultat nominal:
it-IT	Italian (Italy)	Quarta emoglobina più predominante:Osservazione:Pt:Sangue.su carta da filtro:Nom: Synonyms: Ematologia (coagulazione) conta differenziale Osservazione Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	vierde meest overheersende hemoglobine:bevinding:moment:gedroogde bloedspot:nominaal:
ru-RU	Russian (Russian Federation)	Четвертый наиболее преобладающий гемоглобин:Находка:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Dördüncü en yaygın hemoglobin:Bulgu:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	第4位最主要的血红蛋白:发现:时间点:全血.斑点:名义型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论时刻;随机;随意;瞬间最主要血红蛋白;最具优势的血红蛋白;第一位最主要的血红蛋白氧血红蛋白;血红朊;血红素;血色素第4 第四第四个第四位最主要的血红蛋白血;血液血液学/细胞计数;血液学与细胞计数

64121-7 Fifth most predominant hemoglobin in DBS

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Fifth most predominant hemoglobin
Property: Find
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: 5th most predominant Hb DBS
Display Name: Fifth most predominant hemoglobin Nom (DBS)
Consumer Name Alpha Get Info: Fifth most predominant hemoglobin, Dried blood spot

Basic Attributes

Class: HEM/BC
Type: Laboratory
First Released: Version 2.36
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Example" to fit the current LOINC model.
Order vs. Observation: Observation

Example Answer List LL1511-6

Answer	Code	Score	Answer ID
Hb F			LA16208-3
Hb A			LA16209-1
Hb A - indeterminate			LA16210-9
Hb A2			LA16211-7
Hb A2 - elevated			LA16212-5
Hb Bart's - low level			LA16213-3
Hb Bart's - highly elevated			LA16214-1
Hb C			LA13002-3
Hb Constant Spring			LA16215-8
Hb D			LA13003-1
Hb D-Punjab			LA16216-6
Hb D/G			LA16217-4
Hb E			LA13005-6
Hb G			LA16218-2
Hb G-Philadelphia			LA16219-0
Hb H			LA16220-8
Hb Lepore Boston			LA16221-6
Hb O-Arab			LA16222-4
Hb S			LA13007-2
Hb unidentified			LA16223-2

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Fünfthäufigstes Hämoglobin:Befund:Zeitpunkt:Blut.Tropfen:Nominal:
es-ES	Spanish (Spain)	Quinta hemoglobina mas predominante:Hallazgo:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Quinta hemoglobina más predominante:Hallazgo:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Hémoglobine prédominante 5ème:Recherche:Ponctuel:Sang buvard:Résultat nominal:
it-IT	Italian (Italy)	Quinta emoglobina più predominante:Osservazione:Pt:Sangue.su carta da filtro:Nom: Synonyms: Ematologia (coagulazione) conta differenziale Osservazione Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	vijfde meest overheersende hemoglobine:bevinding:moment:gedroogde bloedspot:nominaal:
ru-RU	Russian (Russian Federation)	Пятый наиболее преобладающий гемоглобин:Находка:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Beşinci en yaygın hemoglobin:Bulgu:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	第5位最主要的血红蛋白:发现:时间点:全血.斑点:名义型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论时刻;随机;随意;瞬间最主要血红蛋白;最具优势的血红蛋白;第一位最主要的血红蛋白氧血红蛋白;血红朊;血红素;血色素第5 第五第五个第五位最主要的血红蛋白血;血液血液学/细胞计数;血液学与细胞计数

46740-7 Hemoglobin disorders newborn screen interpretation

Part Descriptions

LP31618-9 Hemoglobin disorders
A group of inherited disorders characterized by structural alterations within the hemoglobin molecule. Source: National Library of Medicine, MeSH 2006

Observation Required in Panel

Required

Fully-Specified Name

Component: Hemoglobin disorders
Property: Imp
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: Hemoglobin disorders DBS-Imp
Display Name: Hemoglobin disorders (DBS) [Interp]
Consumer Name Alpha Get Info: Hemoglobin disorders, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.19
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation
Common Test Rank Get Info: 543

Preferred Answer List LL840-0

Answer	Code	Score	Answer ID
In range			LA18592-8
Borderline			LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)			LA11884-6
Out of range			LA18593-6
Out of range requiring further dried blood spot testing for at least one condition			LA12430-7
Out of range requiring immediate referral			LA25817-0
Out of range requiring immediate second-tier testing for at least one condition			LA12431-5
Out of range requiring deferred follow-up for at least one condition			LA18594-4
One or more tests pending			LA16204-2
Specimen unsatisfactory for at least one condition			LA16205-9

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Hemoglobinopatías:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Trastornos de la hemoglobina:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Troubles de l'hémoglobine:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE	French (Belgium)	Hémoglobinopathies:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal: Synonyms: Hb
fr-CA	French (Canada)	Hémoglobinopathies:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Emoglobina, disturbi:Imp:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica disturbi di emoglobina Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	hemoglobine-aandoeningen:interpretatie:moment:gedroogde bloedspot:nominaal:
pt-BR	Portuguese (Brazil)	Hemoglobinopatias:Imp:Pt:SgPapel:Nom: Synonyms: Hemoglobinopathies; Hgb; Hb; Haemoglobin; Interpretation; Interp; Impression; Impressions; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; Chemistry
ru-RU	Russian (Russian Federation)	Гемоглобинозы:Впчт:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Hemoglobin bozuklukları:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	血红蛋白病:印象:时间点:全血.斑点:名义型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释时刻;随机;随意;瞬间氧血红蛋白;血红朊;血红素;血色素病态血红蛋白血;血液

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

57703-1 Hemoglobin disorders newborn screening comment-discussion

Part Descriptions

LP31618-9 Hemoglobin disorders
A group of inherited disorders characterized by structural alterations within the hemoglobin molecule. Source: National Library of Medicine, MeSH 2006

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Hemoglobin disorders newborn screening comment-discussion
Property: Txt
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: Hemoglobin disorders NBS comment
Display Name: Hemoglobin disorders newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info: Hemoglobin disorders newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 17794

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Hemoglobinopatías screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX	Spanish (Mexico)	Trastornos de la hemoglobina cribado neonatal comentario / discusión:Texto:Punto temporal:DBS:Narrativo:
fr-FR	French (France)	Troubles de l'hémoglobine dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE	French (Belgium)	Hémoglobinopathies Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif: Synonyms: Hb
it-IT	Italian (Italy)	Emoglobina, disturbi , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica Commento/discussione di screeening neonatale per disturbi emoglobinici disturbi di emoglobina Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL	Dutch (Netherlands)	hemoglobine-aandoeningen screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
pl-PL	Polish (Poland)	Hemoglobinopatie komentarz-dyskusja nad badaniami przesiewowymi noworodka:tekst:punkt w czasie:sucha kropla krwi:opisowy: Synonyms: Badania przesiewowe noworodków w kierunku zaburzeń hemoglobiny komentarz-dyskusja
pt-BR	Portuguese (Brazil)	Hemoglobinopatias na triagem neonatal comentários-discussão:#N/A:Pt:SgPapel:Nar: Synonyms: ; Hgb disorders NBS comment/discussion; Hemoglobinopathies; Hb; Haemoglobin; Remarks; Text; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Narrative; Report; SCN; Asymptomatic; Asympt; New born; Com; Comm; Commt; Comments; cmnt; cmmt; Chemistry
ru-RU	Russian (Russian Federation)	Гемоглобинозы новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR	Turkish (Turkey)	Hemoglobin bozuklukları yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN	Chinese (China)	血红蛋白病新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型: Synonyms: Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型备注备注;评论;注解;说明;评语意见文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验氧血红蛋白;血红朊;血红素;血色素注解病态血红蛋白短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验血;血液血红蛋白病症新生儿筛查注释/讨论解说解释评定评注评论评语说明

71592-0 Hemoglobinopathies conditions suspected [Identifier] in DBS

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Hemoglobinopathies conditions suspected
Property: Prid
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: Hemoglobinopathies suspected DBS
Display Name: Hemoglobinopathies conditions suspected Nom (DBS)
Consumer Name Alpha Get Info: Hemoglobinopathies conditions suspected, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.40
Last Updated: Version 2.61
Change Reason: Changed answer list from "Normative" to "Example" to fit the current LOINC model.
Order vs. Observation: Observation

Example Answer List LL2094-2

Answer	Code	Score	Answer ID
None Copyright http://snomed.info/sct ID:260413007 None (qualifier value)			LA137-2
Likely transfusion Copyright http://snomed.info/sct ID:10593005 Posttransfusion state (finding)			LA18557-1
Hb SS-disease (sickle cell anemia) Copyright http://snomed.info/sct ID:127040003 Sickle cell-hemoglobin SS disease (disorder)			LA12614-6
Hb S (sickle)-carrier Copyright http://snomed.info/sct ID:16402000 Sickle cell trait (disorder)			LA12606-2
Hb S beta plus thalassemia Copyright http://snomed.info/sct ID:127042006 Sickle cell beta plus thalassemia (disorder)			LA18558-9
Hb S beta zero thalassemia Copyright http://snomed.info/sct ID:127043001 Sickle cell-beta^0^-thalassemia (disorder)			LA18559-7
Hb S beta-thalassemia Copyright http://snomed.info/sct ID:127041004 Sickle cell-beta-thalassemia (disorder)			LA12615-3
Hb SC-disease Copyright http://snomed.info/sct ID:35434009 Sickle cell-hemoglobin C disease (disorder)			LA12616-1
Hb SD-disease Copyright http://snomed.info/sct ID:25472008 Sickle cell-hemoglobin D disease (disorder)			LA12617-9
Hb SE-disease Copyright http://snomed.info/sct ID:47024008 Sickle cell-hemoglobin E disease (disorder)			LA12618-7
Hb S,O-Arab			LA13012-2
Hb S variant			LA18560-5
Hb S/Hereditary persistence of fetal hemoglobin Copyright http://snomed.info/sct ID:234391009 Sickle cell anemia with high hemoglobin F (disorder)			LA18561-3
Homozygous Hereditary persistence of fetal hemoglobin Copyright http://snomed.info/sct ID:191201002 Hereditary persistence of fetal hemoglobin (disorder)			LA18562-1
Beta plus thalassemia Copyright http://snomed.info/sct ID:79592006 Beta plus thalassemia (disorder)			LA18563-9
Hb beta zero-thalassemia Copyright http://snomed.info/sct ID:86715000 Beta zero thalassemia (disorder)			LA12611-2
Beta thalassemia Copyright http://snomed.info/sct ID:65959000 beta Thalassemia (disorder)			LA18564-7
Hb C-disease Copyright http://snomed.info/sct ID:51053007 Hemoglobin C disease (disorder)			LA12607-0
Hb C-carrier Copyright http://snomed.info/sct ID:76050008 Hemoglobin C trait (disorder)			LA12602-1
Hb C beta plus thalassemia Copyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder)			LA18565-4
Hb C beta zero thalassemia Copyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder)			LA18566-2
Hb C beta-thalassemia Copyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder)			LA12608-8
Hb Constant Spring carrier			LA19957-2
Hb D-disease			LA12609-6
Hb D-carrier Copyright http://snomed.info/sct ID:7391009 Hemoglobin D trait (disorder)			LA12603-9
Hb D beta plus thalassemia			LA18567-0
Hb D beta zero thalassemia			LA18568-8
Hb D beta-thalassemia Copyright http://snomed.info/sct ID:119701000119106 Hemoglobin D/beta thalassemia disease (disorder)			LA12610-4
Hb E-disease Copyright http://snomed.info/sct ID:25065001 Hemoglobin E disease (disorder)			LA12612-0
Hb E-carrier Copyright http://snomed.info/sct ID:46248003 Hemoglobin E trait (disorder)			LA12604-7
Hb E beta plus thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder)			LA18569-6
Hb E beta zero thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder)			LA18570-4
Hb E delta beta thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder)			LA18571-2
Hb E beta-thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder)			LA12613-8
Hb G disease			LA18572-0
Hb G carrier			LA18573-8
Hb G beta plus thalassemia			LA18574-6
Hb G beta thalassemia			LA18575-3
Hb G beta zero thalassemia			LA18576-1
Hb D/G disease			LA18577-9
Hb D/G carrier			LA18578-7
Hb D/G beta plus thalassemia			LA18579-5
Hb D/G beta thalassemia			LA18580-3
Hb D/G beta zero thalassemia			LA18581-1
Hb O-Arab carrier			LA12605-4
Alpha thalassemia major Copyright http://snomed.info/sct ID:5300004 Hemoglobin Bart's hydrops syndrome (disorder)			LA18582-9
Alpha thalassemia trait Copyright http://snomed.info/sct ID:191187006 Alpha trait thalassemia (disorder)			LA18583-7
Hb H disease Copyright http://snomed.info/sct ID:48553001 Hemoglobin H disease (disorder)			LA18584-5
Hb H Constant Spring disease Copyright http://snomed.info/sct ID:447117006 Hemoglobin H constant spring thalassemia (disorder)			LA18585-2
Hb H with other variant point mutations			LA18586-0
Other Hb disease Copyright http://snomed.info/sct ID:123772008 Homozygous hemoglobinopathy (disorder)			LA18587-8
Other Hb carrier			LA18588-6
Other beta plus thalassemia			LA18589-4
Other beta zero thalassemia			LA18590-2
Other beta thalassemia			LA18591-0

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Condiciones de susceptibilidad de hemoglobinopatías:Presencia o identidad:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Sospecha de condiciones de hemoglobinopatías:Presencia o identidad:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Hémoglobinopathies conditions suspectées:Identification:Ponctuel:Sang buvard:Résultat nominal:
it-IT	Italian (Italy)	Emoglobinopatie, condizioni sospette:Prid:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	hemoglobinopathie-aandoeningen vermoed:identificator:moment:gedroogde bloedspot:nominaal: Synonyms: hemoglobinopathie aandoeningen vermoed
pl-PL	Polish (Poland)	Podejrzenie hemoglobinopatii:wykrycie lub identyfikacja:punkt w czasie:sucha kropla krwi:cecha:
pt-BR	Portuguese (Brazil)	Hemoglobinopatias condições suspeitas:Ident:Pt:SgPapel:Nom:
ru-RU	Russian (Russian Federation)	Гемоглобинопатии состояние заподозренное:ПрИд:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Кровь Кровь сухая капля Номинальный;Именной Подозрение на гемоглобинопатии Присутствие или Идентификация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Hemoglobinopati durumları süphelenilen:MevcKimlik:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	所怀疑的血红蛋白病:存在与否或特征标识:时间点:全血.斑点:名义型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类存在;存在与否;特征标识;身份;身份标识所怀疑的血红蛋白病类型;所怀疑的血红蛋白病情况;疑似血红蛋白病时刻;随机;随意;瞬间血;血液

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

54072-4 Hemoglobin A/Hemoglobin.total in DBS

Part Descriptions

LP14554-7 Hemoglobin A
Normal adult human hemoglobin. The globin moiety consists of two alpha and two beta chains. Source: National Library of Medicine, MeSH 2006

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Hemoglobin A/Hemoglobin.total
Property: MFr
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Hgb A MFr DBS
Display Name: Hemoglobin A (DBS) [Mass fraction]
Consumer Name Alpha Get Info: Hemoglobin A/Total Hgb, Dried blood spot

Basic Attributes

Class: HEM/BC
Type: Laboratory
First Released: Version 2.26
Last Updated: Version 2.61
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Hämoglobin A/Hämoglobin.gesamt:Massenfraktion:Zeitpunkt:Blut.Tropfen:Quantitativ:
es-ES	Spanish (Spain)	Hemoglobina A/Hemoglobina.total:Fracción de masa:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Hemoglobina A / Hemoglobina total:Fracción de masa:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Hemoglobiin A/hemoglobiin.üld:MFr:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA	French (Canada)	Hémoglobine A/Hémoglobine.totale:Fraction de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Hémoglobine A/hémoglobine totale:Fraction massique:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Hémoglobine A/Hémoglobine.totale:Fraction de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif: Synonyms: Hb Hb A Hb.totale
it-IT	Italian (Italy)	Emoglobina A/Emoglobina.totale:MFr:Pt:Sangue.su carta da filtro:Qn: Synonyms: Ematologia (coagulazione) conta differenziale Frazione di massa Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	hemoglobine A/hemoglobine.totaal:massafractie:moment:gedroogde bloedspot:kwantitatief:
pl-PL	Polish (Poland)	Hemoglobina A/hemoglobina całkowita:frakcja masowa:punkt w czasie:sucha kropla krwi:ilościowy: Synonyms: Hemoglobina A/Hemoglobina całkowita
pt-BR	Portuguese (Brazil)	Hemoglobina A/Hemoglobina.total:MFr:Pt:SgPapel:Qn: Synonyms: ; Hgb A; HbA; Hb; Haemoglobin; Mass fraction; Percent; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Tot; Totl; HEMATOLOGY/CELL COUNTS; HEMATOLOGY/CELL COUNTS
ru-RU	Russian (Russian Federation)	Гемоглобин А/Гемоглобин.общий:МассДол:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Массовая доля Точка во времени;Момент
tr-TR	Turkish (Turkey)	Hemoglobin A/Hemoglobin.total:KütlFr:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	血红蛋白 A/血红蛋白.总计:质量分数:时间点:全血.斑点:定量型: Synonyms: A 型 HbA;Hgb A MFr 全体数量全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 全部共计可用数量表示的;定量性;数值型;数量型;连续数值型标尺总总和总数总血红蛋白总量总额时刻;随机;随意;瞬间氧血红蛋白;血红朊;血红素;血色素汇总血;血液血液学/细胞计数;血液学与细胞计数

Example Units

Unit	Source
%	Example UCUM Units

54069-0 Hemoglobin Barts/Hemoglobin.total in DBS

Part Descriptions

LP16418-3 Hemoglobin Barts
Hemoglobin Barts is a relatively common hemoglobin variant consisting of four gamma chains. Hemoglobin Barts is an extremely high affinity hemoglobin that is not effective at delivering oxygen to tissues. Hemoglobin Barts is only seen during the newborn period and usually indicates that one or more of the baby's alpha-globin genes are deleted, resulting in alpha-thalassemia. Alpha thalassemia is caused by deletions of the alpha globin genes on chromosome 16. Normal patients have four copies of the alpha-globin gene, 2 on each chromosome. A silent carrier will have one deleted alpha gene and usually result in a benign condition. Alpha thalassmia trait occurs when there are two deleted alpha genes, resulting in mild or no anemia with microcytosis and hypochromia. Hemoglobin H disease results from the deletion of three alpha genes with resultant moderately severe alpha thalassemia. Most patients are anemic and display some degree of splenomegaly. Fetal hydrops syndrome occurs when all four alpha genes are deleted. Fetal hydrops is not compatible with life and death occurs in utero or during early infancy.Carrier states for alpha thalassemia are very common in the African, Meditteranean and Asian populations. In general, only the loss of one or two genes is seen in African Americans. Asian and Meditteranean populations may have all types of alpha thalassemia. Information from The Georgia Comphensive Sickle Cell Center at Grady Health System, Emory University School of Medicine Department of Pediatrics, Atlanta, GA at www.scinfo.org, accessed 2007 11 02, and The Utah Department of Health at www.health.utah.gov, accessed 2007 11 02. Source: Regenstrief Institute

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Hemoglobin Barts/Hemoglobin.total
Property: MFr
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Hgb Barts MFr DBS
Display Name: Hemoglobin Barts (DBS) [Mass fraction]
Consumer Name Alpha Get Info: Hemoglobin barts/Total Hgb, Dried blood spot

Basic Attributes

Class: HEM/BC
Type: Laboratory
First Released: Version 2.26
Last Updated: Version 2.61
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Hemoglobina Barts/Hemoglobina.total:Fracción de masa:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Barts de hemoglobina / hemoglobina total:Fracción de masa:Punto temporal:DBS:Cuantitativo:
fr-CA	French (Canada)	Hémoglobine Bart/Hémoglobine.totale:Fraction de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Hémoglobine Barts/hémoglobine totale:Fraction massique:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Hémoglobine Bart/Hémoglobine.totale:Fraction de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif: Synonyms: Hb Hb Bart Hb.totale
it-IT	Italian (Italy)	Emoglobina Bart/Emoglobina.totale:MFr:Pt:Sangue.su carta da filtro:Qn: Synonyms: Ematologia (coagulazione) conta differenziale Emoglobina di Bart Frazione di massa Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	hemoglobine Barts/hemoglobine.totaal:massafractie:moment:gedroogde bloedspot:kwantitatief:
pl-PL	Polish (Poland)	Hemoglobina Barts/hemoglobina całkowita:frakcja masowa:punkt w czasie:sucha kropla krwi:ilościowy: Synonyms: Hemoglobina Barta/Hemoglobina całkowita
pt-BR	Portuguese (Brazil)	Hemoglobina Barts/Hemoglobina.total:MFr:Pt:SgPapel:Qn: Synonyms: ; Hgb Barts; Hb; Haemoglobin; Mass fraction; Percent; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Tot; Totl; Bart; Bart's; HEMATOLOGY/CELL COUNTS; HEMATOLOGY/CELL COUNTS
ru-RU	Russian (Russian Federation)	Гемоглобин Barts/Гемоглобин.общий:МассДол:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Массовая доля Точка во времени;Момент
tr-TR	Turkish (Turkey)	Hemoglobin Barts/Hemoglobin.total:KütlFr:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	血红蛋白 Barts/血红蛋白.总计:质量分数:时间点:全血.斑点:定量型: Synonyms: Bart Bart's Hgb Barts MFr 全体数量全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 全部共计可用数量表示的;定量性;数值型;数量型;连续数值型标尺巴氏总总和总数总血红蛋白总量总额时刻;随机;随意;瞬间氧血红蛋白;血红朊;血红素;血色素汇总血;血液血液学/细胞计数;血液学与细胞计数

Example Units

Unit	Source
%	Example UCUM Units

54073-2 Hemoglobin C/Hemoglobin.total in DBS

Part Descriptions

LP16420-9 Hemoglobin C
A commonly occurring abnormal hemoglobin in which lysine replaces a glutamic acid residue at the sixth position of the beta chains. It results in reduced plasticity of erythrocytes. Source: National Library of Medicine, MeSH 2006

LP16420-9 Hemoglobin C
Hemoglobin C (abbreviated as Hb C or HbC) is an abnormal hemoglobin with substitution of a glutamic acid residue for a lysine residue at the 6th position of the β-globin chain.

This mutated form reduces the normal plasticity of host erythrocytes causing a hemoglobinopathy. In those who are heterozygous for the mutation, about 28-44% of total hemoglobin (Hb) is HbC, and no anemia develops. In homozygotes, nearly all Hb is in the HbC form, resulting in mild hemolytic anemia.

Target cells, microspherocytes and HbC crystals are found in a blood smear from a homozygous patient. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Wikipedia

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Hemoglobin C/Hemoglobin.total
Property: MFr
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Hgb C MFr DBS
Display Name: Hemoglobin C (DBS) [Mass fraction]
Consumer Name Alpha Get Info: Hemoglobin C/Total Hgb, Dried blood spot

Basic Attributes

Class: HEM/BC
Type: Laboratory
First Released: Version 2.26
Last Updated: Version 2.61
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Hämoglobin C/Hämoglobin.gesamt:Massenfraktion:Zeitpunkt:Blut.Tropfen:Quantitativ:
es-ES	Spanish (Spain)	Hemoglobina C/Hemoglobina.total:Fracción de masa:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Hemoglobina C / Hemoglobina total:Fracción de masa:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Hemoglobiin C/hemoglobiin.üld:MFr:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA	French (Canada)	Hémoglobine C/Hémoglobine.totale:Fraction de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Hémoglobine C/hémoglobine totale:Fraction massique:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Hémoglobine C/Hémoglobine.totale:Fraction de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif: Synonyms: Hb Hb.totale HbC
it-IT	Italian (Italy)	Emoglobina C/Emoglobina.totale:MFr:Pt:Sangue.su carta da filtro:Qn: Synonyms: Ematologia (coagulazione) conta differenziale Frazione di massa Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	hemoglobine C/hemoglobine.totaal:massafractie:moment:gedroogde bloedspot:kwantitatief:
pl-PL	Polish (Poland)	Hemoglobina C/hemoglobina całkowita:frakcja masowa:punkt w czasie:sucha kropla krwi:ilościowy: Synonyms: Hemoglobina C/Hemoglobina całkowita
pt-BR	Portuguese (Brazil)	Hemoglobina C/Hemoglobina.total:MFr:Pt:SgPapel:Qn: Synonyms: ; Hgb C; Hb; Haemoglobin; Mass fraction; Percent; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Tot; Totl; HEMATOLOGY/CELL COUNTS; HEMATOLOGY/CELL COUNTS
ru-RU	Russian (Russian Federation)	Гемоглобин С/Гемоглобин.общий:МассДол:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Массовая доля Точка во времени;Момент
tr-TR	Turkish (Turkey)	Hemoglobin C/Hemoglobin.total:KütlFr:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	血红蛋白 C/血红蛋白.总计:质量分数:时间点:全血.斑点:定量型: Synonyms: C 型;丙;丙型 Hgb C MFr 全体数量全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 全部共计可用数量表示的;定量性;数值型;数量型;连续数值型标尺总总和总数总血红蛋白总量总额时刻;随机;随意;瞬间氧血红蛋白;血红朊;血红素;血色素汇总血;血液血液学/细胞计数;血液学与细胞计数

Example Units

Unit	Source
%	Example UCUM Units

54070-8 Hemoglobin D/Hemoglobin.total in DBS

Part Descriptions

LP16424-1 Hemoglobin D
Hemoglobin D (HbD) is a common hemoglobin variant that occurs primarily in north-west India, Pakistan and Iran. Hemoglobin D disease occurs when an individual inherits two copies of the HbD gene. It is a rare and relatively mild disease associated with mild anemia. HbD levels can be detected electrophoretically and compared to the total hemoglobin. HbD Punjab, also known as HbD-Los Angeles, is the most common variant among the HbD variants. Hemoglobins exhibit different migration patterns in alkaline versus acidic electrophoresis conditions. So a combination of 2 procedures can be used in tandem to identify the hemoglobin variants. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Hemoglobin D/Hemoglobin.total
Property: MFr
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Hgb D MFr DBS
Display Name: Hemoglobin D (DBS) [Mass fraction]
Consumer Name Alpha Get Info: Hemoglobin D/Total Hgb, Dried blood spot

Basic Attributes

Class: HEM/BC
Type: Laboratory
First Released: Version 2.26
Last Updated: Version 2.61
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Hämoglobin D/Hämoglobin.gesamt:Massenfraktion:Zeitpunkt:Blut.Tropfen:Quantitativ:
es-ES	Spanish (Spain)	Hemoglobina D/Hemoglobina.total:Fracción de masa:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Hemoglobina D / Hemoglobina total:Fracción de masa:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Hemoglobiin D/hemoglobiin.üld:MFr:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA	French (Canada)	Hémoglobine D/Hémoglobine.totale:Fraction de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Hémoglobine D/hémoglobine totale:Fraction massique:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Hémoglobine D/Hémoglobine.totale:Fraction de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif: Synonyms: Hb Hb.totale HbD
it-IT	Italian (Italy)	Emoglobina D/Emoglobina.totale:MFr:Pt:Sangue.su carta da filtro:Qn: Synonyms: Ematologia (coagulazione) conta differenziale Frazione di massa Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	hemoglobine D/hemoglobine.totaal:massafractie:moment:gedroogde bloedspot:kwantitatief:
pl-PL	Polish (Poland)	Hemoglobina D/hemoglobina całkowita:frakcja masowa:punkt w czasie:sucha kropla krwi:ilościowy: Synonyms: Hemoglobina D/Hemoglobina całkowita
pt-BR	Portuguese (Brazil)	Hemoglobina D/Hemoglobina.total:MFr:Pt:SgPapel:Qn: Synonyms: ; Hgb D; Hb; Haemoglobin; Rhesus; Rh; Mass fraction; Percent; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Tot; Totl; HEMATOLOGY/CELL COUNTS; HEMATOLOGY/CELL COUNTS
ru-RU	Russian (Russian Federation)	Гемоглобин D/Гемоглобин.общий:МассДол:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Массовая доля Точка во времени;Момент
tr-TR	Turkish (Turkey)	Hemoglobin D/Hemoglobin.total:KütlFr:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	血红蛋白 D/血红蛋白.总计:质量分数:时间点:全血.斑点:定量型: Synonyms: Hgb D MFr Rh;Rhesus;恒河猴;猕猴;罗猴全体数量全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 全部共计可用数量表示的;定量性;数值型;数量型;连续数值型标尺总总和总数总血红蛋白总量总额时刻;随机;随意;瞬间氧血红蛋白;血红朊;血红素;血色素汇总血;血液血液学/细胞计数;血液学与细胞计数

Example Units

Unit	Source
%	Example UCUM Units

54071-6 Hemoglobin E/Hemoglobin.total in DBS

Part Descriptions

LP16427-4 Hemoglobin E
An abnormal hemoglobin that results from the substitution of lysine for glutamic acid at position 26 of the beta chain. It is most frequently observed in southeast Asian populations. Source: National Library of Medicine, MeSH 2006

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Hemoglobin E/Hemoglobin.total
Property: MFr
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Hgb E MFr DBS
Display Name: Hemoglobin E (DBS) [Mass fraction]
Consumer Name Alpha Get Info: Hemoglobin E/Total Hgb, Dried blood spot

Basic Attributes

Class: HEM/BC
Type: Laboratory
First Released: Version 2.26
Last Updated: Version 2.61
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Hämoglobin E/Hämoglobin.gesamt:Massenfraktion:Zeitpunkt:Blut.Tropfen:Quantitativ:
es-ES	Spanish (Spain)	Hemoglobina E/Hemoglobina.total:Fracción de masa:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Hemoglobina E / Hemoglobina total:Fracción de masa:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Hemoglobiin E/hemoglobiin.üld:MFr:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA	French (Canada)	Hémoglobine E/Hémoglobine.totale:Fraction de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Hémoglobine E/hémoglobine totale:Fraction massique:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Hémoglobine E/Hémoglobine.totale:Fraction de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif: Synonyms: Hb Hb.totale HbE
it-IT	Italian (Italy)	Emoglobina E/Emoglobina.totale:MFr:Pt:Sangue.su carta da filtro:Qn: Synonyms: Ematologia (coagulazione) conta differenziale Frazione di massa Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	hemoglobine E/hemoglobine.totaal:massafractie:moment:gedroogde bloedspot:kwantitatief:
pl-PL	Polish (Poland)	Hemoglobina E/hemoglobina całkowita:frakcja masowa:punkt w czasie:sucha kropla krwi:ilościowy: Synonyms: Hemoglobina E/Hemoglobina całkowita
pt-BR	Portuguese (Brazil)	Hemoglobina E/Hemoglobina.total:MFr:Pt:SgPapel:Qn: Synonyms: ; Hgb E; Hb; Haemoglobin; Mass fraction; Percent; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Tot; Totl; HEMATOLOGY/CELL COUNTS; HEMATOLOGY/CELL COUNTS
ru-RU	Russian (Russian Federation)	Гемоглобин Е/Гемоглобин.общий:МассДол:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Массовая доля Точка во времени;Момент
tr-TR	Turkish (Turkey)	Hemoglobin E/Hemoglobin.total:KütlFr:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	血红蛋白 E/血红蛋白.总计:质量分数:时间点:全血.斑点:定量型: Synonyms: E 型 Hgb E MFr 全体数量全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 全部共计可用数量表示的;定量性;数值型;数量型;连续数值型标尺总总和总数总血红蛋白总量总额时刻;随机;随意;瞬间氧血红蛋白;血红朊;血红素;血色素汇总血;血液血液学/细胞计数;血液学与细胞计数

Example Units

Unit	Source
%	Example UCUM Units

54074-0 Hemoglobin F/Hemoglobin.total in DBS

Part Descriptions

LP16428-2 Hemoglobin F
Hemoglobin F is used to screen for fetal-to-maternal hemorrrhage. The presence of fetal red cells in the maternal circulation may be identified by use of the acid elution principle first described by Kleihauer, Brown, and Betke, or by several modifications. Very small volumes of red cells commonly escape from the fetal intravascular compartment across the placental barrier into the maternal intervillous space. Source: Regenstrief Institute

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Hemoglobin F/Hemoglobin.total
Property: MFr
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Hgb F MFr DBS
Display Name: Hemoglobin F (DBS) [Mass fraction]
Consumer Name Alpha Get Info: Hemoglobin F/Total Hgb, Dried blood spot

Basic Attributes

Class: HEM/BC
Type: Laboratory
First Released: Version 2.26
Last Updated: Version 2.61
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Hämoglobin F/Hämoglobin.gesamt:Massenfraktion:Zeitpunkt:Blut.Tropfen:Quantitativ:
es-ES	Spanish (Spain)	Hemoglobina fetal/Hemoglobina.total:Fracción de masa:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Hemoglobina F / Hemoglobina total:Fracción de masa:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Hemoglobiin F/hemoglobiin.üld:MFr:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA	French (Canada)	Hémoglobine F/Hémoglobine.totale:Fraction de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Hémoglobine F/hémoglobine totale:Fraction massique:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Hémoglobine F/Hémoglobine.totale:Fraction de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif: Synonyms: Hb Hb.totale HbF
it-IT	Italian (Italy)	Emoglobina F/Emoglobina.totale:MFr:Pt:Sangue.su carta da filtro:Qn: Synonyms: Ematologia (coagulazione) conta differenziale Frazione di massa Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	hemoglobine F/hemoglobine.totaal:massafractie:moment:gedroogde bloedspot:kwantitatief:
pl-PL	Polish (Poland)	Hemoglobina F/hemoglobina całkowita:frakcja masowa:punkt w czasie:sucha kropla krwi:ilościowy: Synonyms: Hemoglobina F/Hemoglobina całkowita
pt-BR	Portuguese (Brazil)	Hemoglobina F/Hemoglobina.total:MFr:Pt:SgPapel:Qn: Synonyms: ; Hgb F; HbF; Fetal hemoglobin; Hb; Haemoglobin; Mass fraction; Percent; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Tot; Totl; HEMATOLOGY/CELL COUNTS; HEMATOLOGY/CELL COUNTS
ru-RU	Russian (Russian Federation)	Гемоглобин F/Гемоглобин.общий:МассДол:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Массовая доля Точка во времени;Момент
tr-TR	Turkish (Turkey)	Hemoglobin F/Hemoglobin.total:KütlFr:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	血红蛋白 F/血红蛋白.总计:质量分数:时间点:全血.斑点:定量型: Synonyms: HbF;Hgb F;胎儿血红蛋白 MFr 全体数量全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 全部共计可用数量表示的;定量性;数值型;数量型;连续数值型标尺总总和总数总血红蛋白总量总额时刻;随机;随意;瞬间氧血红蛋白;血红朊;血红素;血色素汇总血;血液血液学/细胞计数;血液学与细胞计数

Example Units

Unit	Source
%	Example UCUM Units

54068-2 Hemoglobin O - Arab/Hemoglobin.total in DBS

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Hemoglobin O-Arab/Hemoglobin.total
Property: MFr
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Hgb O-Arab MFr DBS
Display Name: Hemoglobin O - Arab (DBS) [Mass fraction]
Consumer Name Alpha Get Info: Hemoglobin O - Arab/Total Hgb, Dried blood spot

Basic Attributes

Class: HEM/BC
Type: Laboratory
First Released: Version 2.26
Last Updated: Version 2.61
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Hemoglobina O - Arab/Hemoglobina.total:Fracción de masa:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Hemoglobina O-Arab / Hemoglobina total:Fracción de masa:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Hémoglobine O-Arab/hémoglobine totale:Fraction massique:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Hémoglobine O-Arab/Hémoglobine.totale:Fraction de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif: Synonyms: Hb Hb O -Arab Hb.totale
fr-CA	French (Canada)	Hémoglobine O-Arab/Hémoglobine.totale:Fraction de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Emoglobina O-Arab/Emoglobina.totale:MFr:Pt:Sangue.su carta da filtro:Qn: Synonyms: Ematologia (coagulazione) conta differenziale Emoglobina O - Arab Frazione di massa Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	hemoglobine O-Arab/hemoglobine.totaal:massafractie:moment:gedroogde bloedspot:kwantitatief:
pl-PL	Polish (Poland)	Hemoglobina O-Arab/hemoglobina całkowita:frakcja masowa:punkt w czasie:sucha kropla krwi:ilościowy: Synonyms: Hemoglobina O-Arab/Hemoglobina całkowita
pt-BR	Portuguese (Brazil)	Hemoglobina O-Arab/Hemoglobina.total:MFr:Pt:SgPapel:Qn: Synonyms: ; Hgb O-ArAc; Hgb O-ArAc; Hb; Haemoglobin; Mass fraction; Percent; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Tot; Totl; HEMATOLOGY/CELL COUNTS; HEMATOLOGY/CELL COUNTS
ru-RU	Russian (Russian Federation)	Гемоглобин О-Arab/Гемоглобин.общий:МассДол:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Массовая доля Точка во времени;Момент
tr-TR	Turkish (Turkey)	Hemoglobin O-Arab/Hemoglobin.total:KütlFr:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	血红蛋白 O-Arab/血红蛋白.总计:质量分数:时间点:全血.斑点:定量型: Synonyms: Hgb O-Arab MFr 全体数量全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 全部共计可用数量表示的;定量性;数值型;数量型;连续数值型标尺总总和总数总血红蛋白总量总额时刻;随机;随意;瞬间氧血红蛋白;血红朊;血红素;血色素汇总血;血液血液学/细胞计数;血液学与细胞计数

Example Units

Unit	Source
%	Example UCUM Units

56476-5 Hemoglobin S/Hemoglobin.total in DBS

Part Descriptions

LP16455-5 Hemoglobin S
Hemoglobin S (HbS) is a variant form of hemoglobin found in people with sickle cell disease. The Hb S variant occurs primarily among people of African, Hispanic, and Mediterranean descent. Hb S has a variation in the β-chain gene that causes a change in the properties of hemoglobin, resulting in abnormal, rigid, sickling shape of red blood cells. Individuals with two copies of the Hb S variant have classic sickle cell disease (sickle cell anemia, HbSS). Individuals with one HbS variant and one normal hemoglobin, Hb A, have sickle cell trait (HbAS) and usually have no associated symptoms. Hemoglobins exhibit different migration patterns in alkaline versus acidic electrophoresis conditions. So a combination of 2 procedures can be used in tandem to identify the hemoglobin variants. Source: Regenstrief LOINC, Sickle-cell disease (Wikipedia)

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Hemoglobin S/Hemoglobin.total
Property: MFr
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Hgb S MFr DBS
Display Name: Hemoglobin S (DBS) [Mass fraction]
Consumer Name Alpha Get Info: Hemoglobin S/Total Hgb, Dried blood spot

Basic Attributes

Class: HEM/BC
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.61
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Hämoglobin S/Hämoglobin.gesamt:Massenfraktion:Zeitpunkt:Blut.Tropfen:Quantitativ:
es-ES	Spanish (Spain)	Hemoglobina S/Hemoglobina.total:Fracción de masa:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Hemoglobina S / Hemoglobina total:Fracción de masa:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Hemoglobiin S/hemoglobiin.üld:MFr:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA	French (Canada)	Hémoglobine S/Hémoglobine.totale:Fraction de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Hémoglobine S/hémoglobine totale:Fraction massique:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Hémoglobine S/Hémoglobine.totale:Fraction de masse:Temps ponctuel:Sang sur papier filtre:Quantitatif: Synonyms: Hb Hb.totale HbS
it-IT	Italian (Italy)	Emoglobina S/Emoglobina.totale:MFr:Pt:Sangue.su carta da filtro:Qn: Synonyms: Ematologia (coagulazione) conta differenziale Frazione di massa Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	hemoglobine S/hemoglobine.totaal:massafractie:moment:gedroogde bloedspot:kwantitatief:
pl-PL	Polish (Poland)	Hemoglobina S/hemoglobina całkowita:frakcja masowa:punkt w czasie:sucha kropla krwi:ilościowy: Synonyms: Hemoglobina S/Hemoglobina całkowita
pt-BR	Portuguese (Brazil)	Hemoglobina S/Hemoglobina.total:#N/A:Pt:SgPapel:Qn: Synonyms: ; Hgb S; Sickle cell; Sickle cells; HbS; Hb; Haemoglobin; Mass fraction; Percent; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Tot; Totl; S prime; HEMATOLOGY/CELL COUNTS; HEMATOLOGY/CELL COUNTS
ru-RU	Russian (Russian Federation)	Гемоглобин S/Гемоглобин.общий:МассДол:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кровь Кровь сухая капля Массовая доля Точка во времени;Момент
tr-TR	Turkish (Turkey)	Hemoglobin S/Hemoglobin.total:KütlFr:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	血红蛋白 S/血红蛋白.总计:质量分数:时间点:全血.斑点:定量型: Synonyms: HbS;Hgb S;镰刀形红细胞;镰刀状红细胞;镰刀状细胞;镰状红细胞;镰状细胞 MFr S 型全体数量全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 全部共计可用数量表示的;定量性;数值型;数量型;连续数值型标尺总总和总数总血红蛋白总量总额时刻;随机;随意;瞬间氧血红蛋白;血红朊;血红素;血色素汇总血;血液血液学/细胞计数;血液学与细胞计数

Example Units

Unit	Source
%	Example UCUM Units

54082-3 Infectious diseases newborn screening panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Infectious diseases newborn screening panel
Property: -
Time: Pt
System: Bld.dot
Scale: -
Method

Additional Names

Short Name: NB pnl Infectious diseases DBS
Display Name: Infectious diseases NBS panel (DBS)
Consumer Name Alpha Get Info: Infectious diseases NBS panel, Dried blood spot

Basic Attributes

Class: PANEL.MICRO
Type: Laboratory
First Released: Version 2.26
Last Updated: Version 2.77
Order vs. Observation: Order
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Panel de cribado neonatal de enfermedades infecciosas:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX	Spanish (Mexico)	Panel de cribado neonatal de enfermedades infecciosas:-:Punto temporal:DBS:-:
fr-FR	French (France)	Maladies infectieuses dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
fr-BE	French (Belgium)	Panel screening nouveau-né maladies infectieuses:-:Temps ponctuel:Sang sur papier filtre:-:
it-IT	Italian (Italy)	Malattie infettive, panel screening neonatale:-:Pt:Sangue.su carta da filtro:-: Synonyms: Microbiologia Panel screening neonatale Panel screening neonatale per malattie infettive Punto nel tempo (episodio) Sangue Set di prescrizione microbiologia Spot sangue secco
nl-NL	Dutch (Netherlands)	besmettelijke ziekten pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
pt-BR	Portuguese (Brazil)	Recém nascido triagem doenças infecciosas painel:-:Pt:SgPapel:-: Synonyms: ; NB Screen Pnl; NBS; NB pnl Infectious diseases; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; SCN; Asymptomatic; Asympt; Pan; Panl; New born; PANEL.MICROBIOLOGY; PANEL.MICROBIOLOGY; Microbiology
ru-RU	Russian (Russian Federation)	Инфекционные болезни новорождённый скрининг панель:-:ТчкВрм:Кр.Сух.капл:-: Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN	Chinese (China)	传染病新生儿筛查组套:-:时间点:全血.斑点:-: Synonyms: Asympt SCN 传染性疾病类;传染性疾病;传染病全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.微生物学;实验室组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）类.微生物学试验;医嘱组.微生物学试验;医嘱组类.微生物学;医嘱组类.微生物学试验;实验室医嘱组类.微生物学;微生物学医嘱组;微生物学医嘱组类医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类微生物学;微生物学试验;微生物学试验（培养、DNA、抗原及抗体）感染性疾病（传染病、传染性疾病）新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;传染病新生儿筛查组合;传染性疾病新生儿筛查医嘱组新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验医嘱组合类检验项目医嘱组合类检验项目组合类筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验组组合组合医嘱组合类组套血;血液

57702-3 Infectious diseases newborn screen interpretation

Observation Required in Panel

Required

Fully-Specified Name

Component: Infectious diseases
Property: Imp
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: Infectious diseases DBS-Imp
Display Name: Infectious diseases (DBS) [Interp]
Consumer Name Alpha Get Info: Infectious diseases, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.56
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation

Preferred Answer List LL833-5

Answer	Code	Score	Answer ID
Normal Copyright http://snomed.info/sct ID:17621005 Normal (qualifier value)			LA6626-1
Borderline			LA4259-3
Suspect HIV			LA12446-3
Suspect TOXO			LA12447-1

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Enfermedades infecciosas:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Enfermedades infecciosas:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Maladies infectieuses:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE	French (Belgium)	Maladies infectieuses:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Malattie infettive:Imp:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	besmettelijke ziekten:interpretatie:moment:gedroogde bloedspot:nominaal:
pt-BR	Portuguese (Brazil)	Doenças infecciosas:#N/A:Pt:SgPapel:Nom: Synonyms: Interpretation; Interp; Impression; Impressions; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; Chemistry
ru-RU	Russian (Russian Federation)	Инфекционные болезни:Впчт:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Enfeksiyöz hastalıklar:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	传染病类:印象:时间点:全血.斑点:名义型: Synonyms: 传染性疾病类;传染性疾病;传染病全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释时刻;随机;随意;瞬间血;血液

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

57701-5 Infectious diseases newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Infectious diseases newborn screening comment-discussion
Property: Txt
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: Infectious diseases NBS comment
Display Name: Infectious diseases newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info: Infectious diseases newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.42
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Enfermedades infecciosas screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX	Spanish (Mexico)	Comentario / discusión sobre enfermedades infecciosas de detección de recién nacidos:Texto:Punto temporal:DBS:Narrativo:
fr-FR	French (France)	Maladies infectieuses dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE	French (Belgium)	Maladies infectieuses Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT	Italian (Italy)	Malattie infettive , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica Commento/discussione di screening neonatale per malattie infettive Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL	Dutch (Netherlands)	besmettelijke ziekten screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
pt-BR	Portuguese (Brazil)	Doenças infecciosas na triagem neonatal comentários-discussão:#N/A:Pt:SgPapel:Nar: Synonyms: ; ID NBS comment/discussion; Remarks; Text; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Narrative; Report; SCN; Asymptomatic; Asympt; New born; Com; Comm; Commt; Comments; cmnt; cmmt; Chemistry
ru-RU	Russian (Russian Federation)	Инфекционные болезни новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR	Turkish (Turkey)	Enfeksiyöz hastalıklar yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN	Chinese (China)	传染病类新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型: Synonyms: Asympt SCN 传染性疾病类;传染性疾病;传染病传染病新生儿筛查注释/讨论全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型备注备注;评论;注解;说明;评语意见文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验注解短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验血;血液解说解释评定评注评论评语说明

54086-4 HIV 1+2 IgG Ab [Presence] in DBS

Part Descriptions

LP16715-2 HIV 1+2
Two types of human immunodeficiency viruses (HIV) have been characterized: HIV-1 and HIV-2. HIV-1 was initially discovered in the early 1980s and thought to be the sole causative agent of HIV infections and ultimately AIDS. In 1986, HIV-2 was isolated and also found to cause AIDs. HIV-1 is more virulent and the predominant cause of the HIV infections worldwide. HIV-2 is poorly transmitted and is primarily concentrated in West Africa.

Presently (2012), HIV-1 strains are divided into four groups, including group M (major) with subtypes A through K, group O (outlier), group N (non-M or O), and group P. HIV-2 is divided into subtypes A through E. Occasionally, two viruses of different subtypes can "cross react" and blend their genetic material to create a new hybrid HIV virus. However, many of these new strains do not survive for long. Studies have also shown that the core proteins of HIV-1 and HIV-2 display frequent cross-reactivity whereas the envelope proteins are more type-specific. Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: HIV 1+2 Ab.IgG
Property: PrThr
Time: Pt
System: Bld.dot
Scale: Ord
Method

Additional Names

Short Name: HIV1+2 IgG DBS Ql
Display Name: HIV 1+2 IgG Ql (DBS)
Consumer Name Alpha Get Info: HIV 1+2 IgG antibody, Dried blood spot

Basic Attributes

Class: MICRO
Type: Laboratory
First Released: Version 2.26
Last Updated: Version 2.61
Change Reason: The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
75622-1	HIV 1 and 2 tests - Meaningful Use set
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	VIH 1-2 IgG:PrThr:Punto temporal:gota de sangre (papel de filtro):Ord:
es-MX	Spanish (Mexico)	VIH 1 + 2 Ab.IgG:Presencia o umbral:Punto temporal:DBS:Ordinal:
et-EE	Estonian (Estonia)	HIV 1+2 antikehad.IgG:PrThr:Pt:Vereplekk:Ord: Synonyms: Immuunglobuliin G Inimese immuunpuudulikkuse viirus Inimese immuunpuudulikkuse viiruse 1. ja 2 tüüp Järgarvuline Juhuslik Veri
fr-CA	French (Canada)	VIH 1+2 , IgG:Présence-Seuil:Temps ponctuel:Sang sur papier filtre:Ordinal:
fr-FR	French (France)	VIH-1+2 Ac IgG:Présence/Seuil:Ponctuel:Sang buvard:Qualitatif:
fr-BE	French (Belgium)	VIH 1+2 Anticorps. IgG:PrThr:Temps ponctuel:Sang sur papier filtre:Ordinal: Synonyms: Anticorps HIV HIV 1 HIV 1&2 HIV 1+2
it-IT	Italian (Italy)	HIV 1+2 Ab.IgG:PrThr:Pt:Sangue.su carta da filtro:Ord: Synonyms: anticorpi IgG anticorpo Microbiologia Presenza o Soglia Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	HIV 1+2 As.IgG:aanwezigheid:moment:gedroogde bloedspot:ordinaal: Synonyms: antistof; antilichaam
pl-PL	Polish (Poland)	HIV 1+2 Ab.IgG:granica wykrywalności:punkt w czasie:sucha kropla krwi:półilościowy: Synonyms: IgG Ludzki wirus niedoboru odporności typu 1 Ludzki wirus niedoboru odporności typu 1 i 2 Ludzki wirus niedoboru odporności typu 1+2 Przeciwciała do HIV 1 i 2 Przeciwciała do HIV 1+2 Przeciwciała IgG do HIV 1 i 2 Przeciwciała IgG do HIV 1+2
pt-BR	Portuguese (Brazil)	HIV 1+2 Ac.IgG:ACnc:Pt:SgPapel:Ord: Synonyms: Immune globulin G; Immunoglobulin G; HIV1+2; HIV1; HTLV III; HTLV 3; HIV type 1; HIV type I; AIDS; Human immunodeficiency virus; Arbitrary concentration; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; Antibodies; Autoantibody; Antibody; Autoantibodies; Antby; Acy; Anti; II; Microbiology
ru-RU	Russian (Russian Federation)	HIV 1+2 Ат.IgG:PrThr:ТчкВрм:Кр.Сух.капл:Пор: Synonyms: Антитело ВИЧ ВИЧ 1 ВИЧ 1 и 2 ВИЧ 1+2 Кровь Кровь сухая капля Порядковый Точка во времени;Момент
tr-TR	Turkish (Turkey)	HIV 1+2 Ab.IgG:MevcEşik:Zmlı:Kan.nokta:Srl: Synonyms: Ak Ak.IgG Mevcut
zh-CN	Chinese (China)	HIV 1 型+2 型抗体.IgG:存在情况或阈值:时间点:全血.斑点:序数型: Synonyms: Ⅰ Ⅱ Ab.IgG;IgG;抗体 IgG Ab;自身抗体 AIDS;AIDS 病毒;人类免疫缺陷病毒;人类免疫缺陷病毒（Human immunodeficiency virus，HIV）;爱滋病;艾滋病;艾滋病病毒;获得性免疫缺陷综合征;获得性免疫缺陷综合征（Acquired Immure Deficiency Syndrome，AIDS，艾滋病） HIV 1 & 2 Ab HIV 1+2 Ab HIV 1+2 Ab.IgG HIV1;HTLV 3;HTLV III;人类免疫缺陷病毒 1 型;人类免疫缺陷病毒 I 型;HIV 1 型（人类免疫缺陷病毒 1 型、人类免疫缺陷病毒 I 型、人免疫缺陷病毒 1 型、人免疫缺陷病毒 I 型、HIV I、HIV I 型、艾滋病病毒 I 型） I II 人类免疫缺陷病毒 1 & 2 型 Ab 人类免疫缺陷病毒 1 & 2 型抗体人类免疫缺陷病毒 1 与 2 型 Ab 人类免疫缺陷病毒 1 与 2 型;HIV（人类免疫缺陷病毒、人免疫缺陷病毒、艾滋病病毒） 1 型（I 型）与 2 型（II 型）人类免疫缺陷病毒 1 与 2 型抗体人类免疫缺陷病毒 1+2 型 Ab 人类免疫缺陷病毒 1+2 型 Ab.IgG 人类免疫缺陷病毒 1+2 型 IgG 人类免疫缺陷病毒 1+2 型;HIV 1+2 型（人类免疫缺陷病毒 1+2 型、人类免疫缺陷病毒 I+II 型、人免疫缺陷病毒 1+2 型、人免疫缺陷病毒 I+II 型、HIV I+II、HIV I+II 型、艾滋病病毒 I+II 型）人类免疫缺陷病毒 1+2 型抗体人类免疫缺陷病毒 1+2 型抗体.IgG 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型免疫球蛋白 G 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值）微生物学;微生物学试验;微生物学试验（培养、DNA、抗原及抗体）时刻;随机;随意;瞬间血;血液

54087-2 Toxoplasma gondii IgG Ab [Presence] in DBS

Part Descriptions

LP14252-8 Toxoplasma gondii
Toxoplasma gondii is an intestinal coccidium that multiplies within cats as definitive hosts as well as within many other mammals and birds as intermediate hosts. T. gondii reproduces sexually only in cats. It infects the intestinal epithelium and produces oocysts which are shed in the feces. Humans acquire infections most often by consumption of undercooked meat containing tissue cysts or food contaminated by cat feces. Less than 0.1 percent of human cases are acquired congenitally. Toxoplasmosis is minor and self-limiting in immunocompetent individuals who may be asymptomatic or present with fever, lymphadenopathy, muscle aches and headache. Toxoplasma may manifest as encephalitis in immunosuppressed individuals including patients with acquired immune deficiency syndrome (AIDS) and may lead to coma or death. T. gondii often infects the brain and retina in congenitally infected children. Mild symptoms include slightly diminished vision while severely diseased children exhibit a pattern of retinochoroiditis, hydrocephalus, convulsions and intracerebral calcifications. Ocular disease may also occur. Toxoplasma is diagnosed through serology and upon histologic examination of tissues. Prevention includes thorough cooking of meat and proper management of cats. Sulfadiazine and pyrimethamine can be used to treat acute cases. [NCBI Books:NBK7627] Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Toxoplasma gondii Ab.IgG
Property: PrThr
Time: Pt
System: Bld.dot
Scale: Ord
Method

Additional Names

Short Name: T gondii IgG DBS Ql
Display Name: T. gondii IgG Ql (DBS)
Consumer Name Alpha Get Info: Toxoplasma gondii IgG antibody, Dried blood spot

Basic Attributes

Class: MICRO
Type: Laboratory
First Released: Version 2.26
Last Updated: Version 2.61
Change Reason: The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Toxoplasma gondii Ak.IgG:Nachweis oder Schwellenwert:Zeitpunkt:Blut.Tropfen:Ordinal:
es-MX	Spanish (Mexico)	Toxoplasma gondii Ab.IgG:Presencia o umbral:Punto temporal:DBS:Ordinal:
es-ES	Spanish (Spain)	Toxoplasma gondii IgG:PrThr:Punto temporal:gota de sangre (papel de filtro):Ord:
et-EE	Estonian (Estonia)	Toxoplasma gondii antikehad.IgG:PrThr:Pt:Vereplekk:Ord: Synonyms: Immuunglobuliin G Järgarvuline Juhuslik Veri
fr-CA	French (Canada)	Toxoplasma gondii , IgG:Présence-Seuil:Temps ponctuel:Sang sur papier filtre:Ordinal:
fr-FR	French (France)	Toxoplasma gondii Ac IgG:Présence/Seuil:Ponctuel:Sang buvard:Qualitatif:
fr-BE	French (Belgium)	Toxoplasma gondii Anticorps. IgG:PrThr:Temps ponctuel:Sang sur papier filtre:Ordinal: Synonyms: Anticorps
it-IT	Italian (Italy)	Toxoplasma gondii Ab.IgG:PrThr:Pt:Sangue.su carta da filtro:Ord: Synonyms: anticorpi IgG anticorpo Microbiologia Presenza o Soglia Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	Toxoplasma gondii As.IgG:aanwezigheid:moment:gedroogde bloedspot:ordinaal: Synonyms: antistof; antilichaam
pt-BR	Portuguese (Brazil)	Toxoplasma gondii Ac.IgG:ACnc:Pt:SgPapel:Ord: Synonyms: ; T gondii; Immune globulin G; Immunoglobulin G; Arbitrary concentration; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; Antibodies; Autoantibody; Antibody; Autoantibodies; Antby; Acy; Anti; Toxo; Toxoplasmosis; Microbiology
ru-RU	Russian (Russian Federation)	Toxoplasma gondii Ат.IgG:PrThr:ТчкВрм:Кр.Сух.капл:Пор: Synonyms: Антитело Кровь Кровь сухая капля Порядковый Точка во времени;Момент
tr-TR	Turkish (Turkey)	Toxoplasma gondii Ab.IgG:MevcEşik:Zmlı:Kan.nokta:Srl: Synonyms: Ak Ak.IgG Mevcut
zh-CN	Chinese (China)	刚地弓形虫抗体.IgG:存在情况或阈值:时间点:全血.斑点:序数型: Synonyms: Ab.IgG;IgG;抗体 IgG Ab;自身抗体依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型免疫球蛋白 G 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 刚地弓形虫 Ab 刚地弓形虫 Ab.IgG 刚地弓形虫 IgG 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值）孢子虫纲;弓形体病;弓形虫病;龚地弓形体弓形体病弓形病弓形虫弓形虫病弓浆病弓浆虫弓浆虫病微生物学;微生物学试验;微生物学试验（培养、DNA、抗原及抗体）时刻;随机;随意;瞬间血;血液龚地弓形体 Ab 龚地弓形体 Ab.IgG 龚地弓形体抗体龚地弓形体抗体.IgG

54088-0 Toxoplasma gondii IgM Ab [Presence] in DBS

Part Descriptions

LP14252-8 Toxoplasma gondii
Toxoplasma gondii is an intestinal coccidium that multiplies within cats as definitive hosts as well as within many other mammals and birds as intermediate hosts. T. gondii reproduces sexually only in cats. It infects the intestinal epithelium and produces oocysts which are shed in the feces. Humans acquire infections most often by consumption of undercooked meat containing tissue cysts or food contaminated by cat feces. Less than 0.1 percent of human cases are acquired congenitally. Toxoplasmosis is minor and self-limiting in immunocompetent individuals who may be asymptomatic or present with fever, lymphadenopathy, muscle aches and headache. Toxoplasma may manifest as encephalitis in immunosuppressed individuals including patients with acquired immune deficiency syndrome (AIDS) and may lead to coma or death. T. gondii often infects the brain and retina in congenitally infected children. Mild symptoms include slightly diminished vision while severely diseased children exhibit a pattern of retinochoroiditis, hydrocephalus, convulsions and intracerebral calcifications. Ocular disease may also occur. Toxoplasma is diagnosed through serology and upon histologic examination of tissues. Prevention includes thorough cooking of meat and proper management of cats. Sulfadiazine and pyrimethamine can be used to treat acute cases. [NCBI Books:NBK7627] Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Toxoplasma gondii Ab.IgM
Property: PrThr
Time: Pt
System: Bld.dot
Scale: Ord
Method

Additional Names

Short Name: T gondii IgM DBS Ql
Display Name: T. gondii IgM Ql (DBS)
Consumer Name Alpha Get Info: Toxoplasma gondii IgM antibody, Dried blood spot

Basic Attributes

Class: MICRO
Type: Laboratory
First Released: Version 2.26
Last Updated: Version 2.61
Change Reason: The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Toxoplasma gondii Ak.IgM:Nachweis oder Schwellenwert:Zeitpunkt:Blut.Tropfen:Ordinal:
es-ES	Spanish (Spain)	Toxoplasma gondii IgM:PrThr:Punto temporal:gota de sangre (papel de filtro):Ord:
es-MX	Spanish (Mexico)	Toxoplasma gondii Ab.IgM:Presencia o umbral:Punto temporal:DBS:Ordinal:
et-EE	Estonian (Estonia)	Toxoplasma gondii antikehad.IgM:PrThr:Pt:Vereplekk:Ord: Synonyms: Immuunglobuliin M Järgarvuline Juhuslik Veri
fr-CA	French (Canada)	Toxoplasma gondii , IgM:Présence-Seuil:Temps ponctuel:Sang sur papier filtre:Ordinal:
fr-FR	French (France)	Toxoplasma gondii Ac IgM:Présence/Seuil:Ponctuel:Sang buvard:Qualitatif:
fr-BE	French (Belgium)	Toxoplasma gondii Anticorps. IgM:PrThr:Temps ponctuel:Sang sur papier filtre:Ordinal: Synonyms: Anticorps
it-IT	Italian (Italy)	Toxoplasma gondii Ab.IgM:PrThr:Pt:Sangue.su carta da filtro:Ord: Synonyms: Anticorpi IgM anticorpo Microbiologia Presenza o Soglia Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	Toxoplasma gondii As.IgM:aanwezigheid:moment:gedroogde bloedspot:ordinaal: Synonyms: antistof; antilichaam
pt-BR	Portuguese (Brazil)	Toxoplasma gondii Ac.IgM:ACnc:Pt:SgPapel:Ord: Synonyms: ; T gondii; Immune globulin M; Immunoglobulin M; Arbitrary concentration; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; Antibodies; Autoantibody; Antibody; Autoantibodies; Antby; Acy; Anti; Toxo; Toxoplasmosis; Microbiology
ru-RU	Russian (Russian Federation)	Toxoplasma gondii Ат.IgM:PrThr:ТчкВрм:Кр.Сух.капл:Пор: Synonyms: Антитело Кровь Кровь сухая капля Порядковый Точка во времени;Момент
tr-TR	Turkish (Turkey)	Toxoplasma gondii Ab.IgM:MevcEşik:Zmlı:Kan.nokta:Srl: Synonyms: Ak Ak.IgM Mevcut
zh-CN	Chinese (China)	刚地弓形虫抗体.IgM:存在情况或阈值:时间点:全血.斑点:序数型: Synonyms: Ab.IgM;IgM;抗体 IgM Ab;自身抗体依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型免疫球蛋白 M 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 刚地弓形虫 Ab 刚地弓形虫 Ab.IgM 刚地弓形虫 IgM 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值）孢子虫纲;弓形体病;弓形虫病;龚地弓形体弓形体病弓形病弓形虫弓形虫病弓浆病弓浆虫弓浆虫病微生物学;微生物学试验;微生物学试验（培养、DNA、抗原及抗体）时刻;随机;随意;瞬间血;血液龚地弓形体 Ab 龚地弓形体 Ab.IgM 龚地弓形体抗体龚地弓形体抗体.IgM

57087-9 Biotinidase newborn screening panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Biotinidase newborn screening panel
Property: -
Time: Pt
System: Bld.dot
Scale: -
Method

Additional Names

Short Name: BIO NB scn pnl DBS
Display Name: Biotinidase NBS panel (DBS)
Consumer Name Alpha Get Info: Biotinidase NBS Panel, Dried blood spot

Basic Attributes

Class: PANEL.CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.77
Order vs. Observation: Order
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Panel de cribado neonatal de biotinidasa:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX	Spanish (Mexico)	Panel de detección de biotinidasa en recién nacidos:-:Punto temporal:DBS:-:
fr-FR	French (France)	Biotinidase dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT	Italian (Italy)	Biotinidasi, panel di screening neonatale:-:Pt:Sangue.su carta da filtro:-: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per biotinidasi Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL	Dutch (Netherlands)	biotinidase pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
pt-BR	Portuguese (Brazil)	Biotinidase painel de triagem neonatal:#N/A:Pt:SgPapel:-: Synonyms: ; NB Screen Pnl; NBS; BIO NB scn pnl; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; SCN; Asymptomatic; Asympt; Pan; Panl; New born; PANEL.CHEMISTRY; PANEL.CHEMISTRY; Chemistry
ru-RU	Russian (Russian Federation)	Биотинидаза новорождённый скрининг панель:-:ТчкВрм:Кр.Сух.капл:-: Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN	Chinese (China)	生物素酶新生儿筛查组套:-:时间点:全血.斑点:-: Synonyms: Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验医嘱组合类检验项目医嘱组合类检验项目组合类生物素酶新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;生物素酶新生儿筛查组合;生物素化物酶新生儿筛查医嘱组筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验组组合组合医嘱组合类组套血;血液

46761-3 Biotinidase deficiency newborn screen interpretation

Part Descriptions

LP56771-6 Biotinidase deficiency
The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN. Source: National Library of Medicine, MeSH 2006

Observation Required in Panel

Required

Fully-Specified Name

Component: Biotinidase deficiency
Property: Imp
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: BIOT DBS-Imp
Display Name: Biotinidase deficiency (DBS) [Interp]
Consumer Name Alpha Get Info: Biotinidase deficiency, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.19
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation
Common Test Rank Get Info: 5014

Preferred Answer List LL840-0

Answer	Code	Score	Answer ID
In range			LA18592-8
Borderline			LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)			LA11884-6
Out of range			LA18593-6
Out of range requiring further dried blood spot testing for at least one condition			LA12430-7
Out of range requiring immediate referral			LA25817-0
Out of range requiring immediate second-tier testing for at least one condition			LA12431-5
Out of range requiring deferred follow-up for at least one condition			LA18594-4
One or more tests pending			LA16204-2
Specimen unsatisfactory for at least one condition			LA16205-9

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Deficiencia de Biotinidasa:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Deficiencia de biotinidasa:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Biotinidase carence:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE	French (Belgium)	Déficit en biotinidase:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-CA	French (Canada)	Déficit en biotinidase:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Biotinidasi, deficit:Imp:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Deficit di biotinidasi Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	biotinidasedeficiëntie:interpretatie:moment:gedroogde bloedspot:nominaal: Synonyms: biotinidase deficientie
pt-BR	Portuguese (Brazil)	Deficiência de Biotinidase:Imp:Pt:SgPapel:Nom: Synonyms: ; BIOT; Interpretation; Interp; Impression; Impressions; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; Chemistry
ru-RU	Russian (Russian Federation)	Биотинидаза недостаточность:Впчт:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Недостаточность биотинидазы Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Biyotinidaz yetmezliği:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	生物素化物酶缺陷:印象:时间点:全血.斑点:名义型: Synonyms: BIOT 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释时刻;随机;随意;瞬间血;血液

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This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

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57699-1 Biotinidase deficiency newborn screening comment-discussion

Part Descriptions

LP56771-6 Biotinidase deficiency
The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN. Source: National Library of Medicine, MeSH 2006

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Biotinidase deficiency newborn screening comment-discussion
Property: Txt
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: BIOT NBS comment
Display Name: Biotinidase deficiency newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info: Biotinidase deficiency newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 19546

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Deficiencia de Biotinidasa screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX	Spanish (Mexico)	Comentario-discusión sobre el cribado neonatal por deficiencia de biotinidasa:Texto:Punto temporal:DBS:Narrativo:
fr-FR	French (France)	Biotinidase carence dépistage néonatal (commentaire/discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE	French (Belgium)	Déficit en biotinidase Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT	Italian (Italy)	Biotinidasi, deficit , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica Commento/discussione di screening neonatale per deficit di biotinidasi Deficit di biotinidasi Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL	Dutch (Netherlands)	biotinidasedeficiëntie screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel: Synonyms: biotinidase deficientie
pt-BR	Portuguese (Brazil)	Deficiência de biotinidase na triagem neonatal comentários-discussão:#N/A:Pt:SgPapel:Nar: Synonyms: Remarks; BIOT NBS comment/discussion; Text; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Narrative; Report; SCN; Asymptomatic; Asympt; New born; Com; Comm; Commt; Comments; cmnt; cmmt; Chemistry
ru-RU	Russian (Russian Federation)	Биотинидаза недостаточность новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис: Synonyms: Кровь Кровь сухая капля Недостаточность биотинидазы Описательный Текст Точка во времени;Момент
tr-TR	Turkish (Turkey)	Biyotinidaz yetmezliği yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN	Chinese (China)	生物素化物酶缺陷新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型: Synonyms: Asympt BIOT SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型备注备注;评论;注解;说明;评语意见文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验注解生物素酶缺陷新生儿筛查注释/讨论短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验血;血液解说解释评定评注评论评语说明

38478-4 Biotinidase [Presence] in DBS

Part Descriptions

LP15452-3 Biotinidase
Biotinidase is a human enzyme coded for by the BTD gene. It facilitates the use and recycling of the B vitamin biotin, sometimes called vitamin H. It removes biotin from food because biotin is needed in its free form. Biotinidase also recycles biotin from certain enzymes, known as carboxylases. These enzymes are important in the processing of fats, carbohydrates and proteins. Biotin is attached to the carboxylases through an amino acid called lysine, forming a complex called biocytin. Biotinidase removes biotin from biocytin and makes it available to be reused by other enzymes.

Mutations in the BTD gene cause biotinidase deficiency. Approximately 100 mutations in the BTD gene that lead to biotinidase deficiency have been discovered. These mutations either prevent the enzyme from being made or cause the enzyme that is produced to be nonfunctional. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Biotinidase

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Biotinidase
Property: PrThr
Time: Pt
System: Bld.dot
Scale: Ord
Method

Additional Names

Short Name: Biotinidase DBS Ql
Display Name: Biotinidase Ql (DBS)
Consumer Name Alpha Get Info: Biotinidase, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.14
Last Updated: Version 2.73
Change Reason: The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation: Both
Common Test Rank Get Info: 1407

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Biotinidase:Nachweis oder Schwellenwert:Zeitpunkt:Blut.Tropfen:Ordinal:
es-ES	Spanish (Spain)	Biotinidasa:PrThr:Punto temporal:gota de sangre (papel de filtro):Ord:
es-MX	Spanish (Mexico)	Biotinidasa:Presencia o umbral:Punto temporal:DBS:Ordinal:
es-AR	Spanish (Argentina)	biotinidasa:concentración arbitraria:punto en el tiempo:sangre.gota:ordinal:
et-EE	Estonian (Estonia)	Biotinidaas:PrThr:Pt:Vereplekk:Ord: Synonyms: Järgarvuline Juhuslik Veri
fr-FR	French (France)	Biotinidase:Présence/Seuil:Ponctuel:Sang buvard:Qualitatif:
fr-BE	French (Belgium)	Biotinidase:PrThr:Temps ponctuel:Sang sur papier filtre:Ordinal:
fr-CA	French (Canada)	Biotinidase:Présence-Seuil:Temps ponctuel:Sang sur papier filtre:Ordinal:
it-IT	Italian (Italy)	Biotinidasi:PrThr:Pt:Sangue.su carta da filtro:Ord: Synonyms: Chimica Presenza o Soglia Punto nel tempo (episodio) Sangue Spot sangue secco
ko-KR	Korean (Korea, Republic Of)	바이오티니다아제:임의농도:검사시점:필터지혈액:순위척도:
nl-NL	Dutch (Netherlands)	biotinidase:aanwezigheid:moment:gedroogde bloedspot:ordinaal:
pt-BR	Portuguese (Brazil)	Biotinidase:ACnc:Pt:SgPapel:Ord: Synonyms: Arbitrary concentration; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; Chemistry
ru-RU	Russian (Russian Federation)	Биотинидаза:PrThr:ТчкВрм:Кр.Сух.капл:Пор: Synonyms: Кровь Кровь сухая капля Порядковый Точка во времени;Момент
tr-TR	Turkish (Turkey)	Biyotinidaz:MevcEşik:Zmlı:Kan.nokta:Srl: Synonyms: Mevcut
zh-CN	Chinese (China)	生物素化物酶:存在情况或阈值:时间点:全血.斑点:序数型: Synonyms: 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值）时刻;随机;随意;瞬间血;血液

75217-0 Biotinidase [Enzymatic activity/volume] in DBS

Term Description

Biotinidase is a marker for biotinidase deficiency, which is one of the core conditions on the HHS Secretary's Recommended Uniform Screening Panel for newborn screening. The submitter's lab uses Astoria-Pacific's SPOTCHECK analyzer to measure biotinidase, which is reported in ERUs (enzyme response units). ERU units are defined as follows: "One ERU is equal to one micromole of PABA (product) produced from Biotin-PAB (substrate) per 100 mL per 90 minutes in the extract from a dried blood spot."
Source: Regenstrief LOINC

Part Descriptions

LP15452-3 Biotinidase
Biotinidase is a human enzyme coded for by the BTD gene. It facilitates the use and recycling of the B vitamin biotin, sometimes called vitamin H. It removes biotin from food because biotin is needed in its free form. Biotinidase also recycles biotin from certain enzymes, known as carboxylases. These enzymes are important in the processing of fats, carbohydrates and proteins. Biotin is attached to the carboxylases through an amino acid called lysine, forming a complex called biocytin. Biotinidase removes biotin from biocytin and makes it available to be reused by other enzymes.

Mutations in the BTD gene cause biotinidase deficiency. Approximately 100 mutations in the BTD gene that lead to biotinidase deficiency have been discovered. These mutations either prevent the enzyme from being made or cause the enzyme that is produced to be nonfunctional. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Biotinidase

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Biotinidase
Property: CCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Biotinidase DBS-cCnc
Display Name: Biotinidase (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info: Biotinidase, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.48
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 16427

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Biotinidasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Biotinidasa:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Biotinidaas:CCnc:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA	French (Canada)	Biotinidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Biotinidase:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Biotinidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Biotinidasi:CCnC:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	biotinidase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Biotinidase::Pt:SgPapel:Qn:
ru-RU	Russian (Russian Federation)	Биотинидаза:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR	Turkish (Turkey)	Biyotinidaz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	生物素化物酶:催化浓度:时间点:全血.斑点:定量型: Synonyms: 催化浓度(单位体积);单位体积内酶的单位数全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
nmol/mL/min	Example UCUM Units

58091-0 Glucose-6-Phosphate dehydrogenase newborn screen panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Glucose-6-Phosphate dehydrogenase newborn screen panel
Property: -
Time: Pt
System: Bld.dot
Scale: -
Method

Additional Names

Short Name: G6PD NBS pnl DBS
Display Name: G6PD NBS panel (DBS)
Consumer Name Alpha Get Info: G6PD NBS Panel, Dried blood spot

Basic Attributes

Class: PANEL.CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.77
Order vs. Observation: Order
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Panel de cribado de la glucosa-6-fosfato deshidrogenasa en el recién nacido:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX	Spanish (Mexico)	Panel de pantalla para recién nacidos de glucosa-6-fosfato deshidrogenasa:-:Punto temporal:DBS:-:
et-EE	Estonian (Estonia)	Glükoos-6-fosfaatdehüdrogenaasi sõeluuring vastsündinul:-:Pt:Vereplekk:-: Synonyms: Juhuslik Veri
fr-FR	French (France)	Glucose-6-phosphate déhydrogénase dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
fr-BE	French (Belgium)	Panel screening néonatal G6PDH:-:Temps ponctuel:Sang sur papier filtre:-: Synonyms: G6P-déshydrogénase, G6PD,G6PDH Panel screening néonatal Glucose-6Phosphate-DésHydrogénase
it-IT	Italian (Italy)	Glucosio-6-Fosfato deidrogenasi, panel screening neonatale:-:Pt:Sangue.su carta da filtro:-: Synonyms: Chimica G6PD Panel screening neonatale per glucosio-6-Fosfato d Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL	Dutch (Netherlands)	glucose-6-fosfatedehydrogenase pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
pl-PL	Polish (Poland)	Panel przesiewowy dla noworodków dehydrogenazy glukozo-6-fosforanowej:-:punkt w czasie:sucha kropla krwi:-:
pt-BR	Portuguese (Brazil)	Glicose-6-Fosfato dehidrogenase triagem neonatal painel:#N/A:Pt:SgPapel:-: Synonyms: Phos; Phosphrous; Phosphorous; Pi; i Phos; PO4; Phosphorus; Inorganic phosphate; Phosphate total; G6PD NBS pnl; G-6-PD; Glucose-6-PD; GPD; G6PDH; Glucose-6-PDH; Glu; Gluc; Glucoseur; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Scr; Scn; Scrn; Pnl; Pan; Panl; New born; Dehydrog; Dehyrdogenase; PANEL.CHEMISTRY; PANEL.CHEMISTRY; Chemistry
ru-RU	Russian (Russian Federation)	Глюкозо-6-Фосфат дегидрогеназа новорождённый скрин панель:-:ТчкВрм:Кр.Сух.капл:-: Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN	Chinese (China)	葡萄糖-6-磷酸脱氢酶新生儿筛查组套:-:时间点:全血.斑点:-: Synonyms: G6PD;G-6-PD;G6PDH;GPD;葡萄糖-6-PD;葡萄糖-6-PDH Glu;Gluc;右旋糖;葡糖 i Phos;Phos;Pi;PO4;总磷酸;无机磷酸;无机磷酸;磷酸根;磷酸盐;磷酸酯全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类去氢酶多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类时刻;随机;随意;瞬间检验医嘱组合类检验项目医嘱组合类检验项目组合类筛查筛查试验筛选试验组组合组合医嘱组合类组套葡萄糖-6-磷酸脱氢酶新生儿筛查组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;G6PD;G-6-PD;G6PDH;GPD;葡萄糖-6-PD;葡萄糖-6-PDH;葡萄糖-6-磷酸脱氢酶新生儿筛查组套;葡萄糖-6-磷酸脱氢酶新生儿筛查组合;G6PD 新生儿筛查医嘱组血;血液过筛过筛试验

58089-4 Glucose-6-Phosphate dehydrogenase newborn screen interpretation

Part Descriptions

LP15601-5 Glucose-6-Phosphate dehydrogenase
Glucose 6-Phosphate Dehydrogenase (G6PD) deficiency causes hemolytic anemia following the use of some drugs, bacterial or viral infections, or metabolic disorder such as acidosis. Three G6PD variants occur frequently and have clinical implications in different ethnic groups. Heinz bodies may appear in peripheral red blood cells when G6PD-mediated hemolysis occurs. Younger red cells and reticulocytes contain more G6PD and may cause normal values if blood is collected following a hemolytic crisis. Source: Regenstrief Institute

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Glucose-6-Phosphate dehydrogenase
Property: Imp
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: G6PD DBS-Imp
Display Name: G6PD Nar (DBS) [Interp]
Consumer Name Alpha Get Info: Interpretation of Glucose-6-Phosphate dehydrogenase test result, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.56
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation

Preferred Answer List LL840-0

Answer	Code	Score	Answer ID
In range			LA18592-8
Borderline			LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)			LA11884-6
Out of range			LA18593-6
Out of range requiring further dried blood spot testing for at least one condition			LA12430-7
Out of range requiring immediate referral			LA25817-0
Out of range requiring immediate second-tier testing for at least one condition			LA12431-5
Out of range requiring deferred follow-up for at least one condition			LA18594-4
One or more tests pending			LA16204-2
Specimen unsatisfactory for at least one condition			LA16205-9

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Glucosa 6-Fosfatodeshidrogenasa:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX	Spanish (Mexico)	Glucosa-6-fosfato deshidrogenasa:Impresión / interpretación del estudio:Punto temporal:DBS:Narrativo:
fr-CA	French (Canada)	Glucose-6-phosphate déshydrogénase:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Narratif:
fr-FR	French (France)	Glucose-6-phosphate déhydrogénase:Interprétation:Ponctuel:Sang buvard:Résultat textuel:
fr-BE	French (Belgium)	Glucose-6-phosphate déshydrogénase:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Narratif: Synonyms: G6P-déshydrogénase, G6PD,G6PDH
it-IT	Italian (Italy)	Glucosio-6-Fosfato deidrogenasi:Imp:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica G6PD Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	glucose-6-fosfatedehydrogenase:interpretatie:moment:gedroogde bloedspot:tekstueel:
pt-BR	Portuguese (Brazil)	Glicose-6-Fosfato dehidrogenase:#N/A:Pt:SgPapel:Nar: Synonyms: Phos; Phosphrous; Phosphorous; Pi; i Phos; PO4; Phosphorus; Inorganic phosphate; Phosphate total; G6PD; G-6-PD; Glucose-6-PD; GPD; G6PDH; Glucose-6-PDH; Glu; Gluc; Glucoseur; Interpretation; Interp; Impression; Impressions; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Narrative; Report; Dehydrog; Dehyrdogenase; Chemistry
ru-RU	Russian (Russian Federation)	Глюкозо-6-фосфат дегидрогеназа:Впчт:ТчкВрм:Кр.Сух.капл:Опис: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Описательный Точка во времени;Момент
tr-TR	Turkish (Turkey)	Glukoz-6-Fosfat dehidrojenaz:İzlnm:Zmlı:Kan.nokta:Öykü:
zh-CN	Chinese (China)	葡萄糖-6-磷酸脱氢酶:印象:时间点:全血.斑点:叙述型: Synonyms: G6PD;G-6-PD;G6PDH;GPD;葡萄糖-6-PD;葡萄糖-6-PDH Glu;Gluc;右旋糖;葡糖 i Phos;Phos;Pi;PO4;总磷酸;无机磷酸;无机磷酸;磷酸根;磷酸盐;磷酸酯全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释去氢酶叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型时刻;随机;随意;瞬间血;血液

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This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

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58090-2 Glucose-6-Phosphate dehydrogenase newborn screening comment-discussion

Part Descriptions

LP15601-5 Glucose-6-Phosphate dehydrogenase
Glucose 6-Phosphate Dehydrogenase (G6PD) deficiency causes hemolytic anemia following the use of some drugs, bacterial or viral infections, or metabolic disorder such as acidosis. Three G6PD variants occur frequently and have clinical implications in different ethnic groups. Heinz bodies may appear in peripheral red blood cells when G6PD-mediated hemolysis occurs. Younger red cells and reticulocytes contain more G6PD and may cause normal values if blood is collected following a hemolytic crisis. Source: Regenstrief Institute

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Glucose-6-Phosphate dehydrogenase newborn screening comment-discussion
Property: Txt
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: G6PD NBS comment
Display Name: G6PD newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info: Glucose-6-Phosphate dehydrogenase newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.42
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Glucosa 6-Fosfatodeshidrogenasa screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX	Spanish (Mexico)	Comentario-discusión del cribado de recién nacidos con glucosa-6-fosfato deshidrogenasa:Texto:Punto temporal:DBS:Narrativo:
fr-FR	French (France)	Glucose-6-phosphate déhydrogénase dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE	French (Belgium)	Glucose-6-phosphate déshydrogénase Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif: Synonyms: G6P-déshydrogénase, G6PD,G6PDH
it-IT	Italian (Italy)	Glucosio-6-Fosfato deidrogenasi , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica Commento/discussione di screening neonatale per glucosio-6-Fosfato deidrogenasi G6PD Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL	Dutch (Netherlands)	glucose-6-fosfatedehydrogenase screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
pl-PL	Polish (Poland)	Dehydrogenaza glukozo-6-fosforanu komentarz-dyskusja nad badaniami przesiewowymi noworodka:tekst:punkt w czasie:sucha kropla krwi:opisowy: Synonyms: Dehydrogenaza glukozo-6-fosforanu (G6PD) badanie przesiewowe noworodków interpretacja
pt-BR	Portuguese (Brazil)	Glicose-6-Fosfato dehidrogenase triagem neonatal comentários-discussão:#N/A:Pt:SgPapel:Nar: Synonyms: Phos; Phosphrous; Phosphorous; Pi; i Phos; PO4; Phosphorus; Inorganic phosphate; Phosphate total; G6PD NBS comment/discussion; G-6-PD; Glucose-6-PD; GPD; G6PDH; Glucose-6-PDH; Glu; Gluc; Glucoseur; Remarks; Text; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Narrative; Report; SCN; Asymptomatic; Asympt; New born; Dehydrog; Dehyrdogenase; Com; Comm; Commt; Comments; cmnt; cmmt; Chemistry
ru-RU	Russian (Russian Federation)	Глюкозо-6-фосфат дегидрогеназа новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR	Turkish (Turkey)	Glukoz-6-Fosfat dehidrojenaz yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN	Chinese (China)	葡萄糖-6-磷酸脱氢酶新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型: Synonyms: Asympt G6PD;G-6-PD;G6PDH;GPD;葡萄糖-6-PD;葡萄糖-6-PDH Glu;Gluc;右旋糖;葡糖 i Phos;Phos;Pi;PO4;总磷酸;无机磷酸;无机磷酸;磷酸根;磷酸盐;磷酸酯 SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类去氢酶叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型备注备注;评论;注解;说明;评语意见文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验注解短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验葡萄糖-6-磷酸脱氢酶新生儿筛查注释/讨论血;血液解说解释评定评注评论评语说明

33287-4 Glucose-6-Phosphate dehydrogenase [Presence] in DBS

Part Descriptions

LP15601-5 Glucose-6-Phosphate dehydrogenase
Glucose 6-Phosphate Dehydrogenase (G6PD) deficiency causes hemolytic anemia following the use of some drugs, bacterial or viral infections, or metabolic disorder such as acidosis. Three G6PD variants occur frequently and have clinical implications in different ethnic groups. Heinz bodies may appear in peripheral red blood cells when G6PD-mediated hemolysis occurs. Younger red cells and reticulocytes contain more G6PD and may cause normal values if blood is collected following a hemolytic crisis. Source: Regenstrief Institute

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Glucose-6-Phosphate dehydrogenase
Property: PrThr
Time: Pt
System: Bld.dot
Scale: Ord
Method

Additional Names

Short Name: G6PD DBS Ql
Display Name: G6PD Ql (DBS)
Consumer Name Alpha Get Info: Glucose-6-Phosphate dehydrogenase, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.09
Last Updated: Version 2.73
Change Reason: The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation: Both
Common Test Rank Get Info: 2488

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Glucosa-6-fosfato deshidrogenasa:Presencia o umbral:Punto temporal:DBS:Ordinal:
es-ES	Spanish (Spain)	Glucosa 6-Fosfatodeshidrogenasa:PrThr:Punto temporal:gota de sangre (papel de filtro):Ord:
es-AR	Spanish (Argentina)	glucosa-6-fosfato deshidrogenasa:concentración arbitraria:punto en el tiempo:sangre.gota:ordinal:
et-EE	Estonian (Estonia)	Glükoos-6-fosfaadi dehüdrogenaas:PrThr:Pt:Vereplekk:Ord: Synonyms: Järgarvuline Juhuslik Veri
fr-FR	French (France)	Glucose-6-phosphate déhydrogénase:Présence/Seuil:Ponctuel:Sang buvard:Qualitatif:
fr-BE	French (Belgium)	Glucose-6-phosphate déshydrogénase:PrThr:Temps ponctuel:Sang sur papier filtre:Ordinal: Synonyms: G6P-déshydrogénase, G6PD,G6PDH
fr-CA	French (Canada)	Glucose-6-phosphate déshydrogénase:Présence-Seuil:Temps ponctuel:Sang sur papier filtre:Ordinal:
it-IT	Italian (Italy)	Glucosio-6-Fosfato deidrogenasi:PrThr:Pt:Sangue.su carta da filtro:Ord: Synonyms: Chimica G6PD Presenza o Soglia Punto nel tempo (episodio) Sangue Spot sangue secco
ko-KR	Korean (Korea, Republic Of)	포도당-6-인산탈수소효소:임의농도:검사시점:필터지혈액:순위척도:
nl-NL	Dutch (Netherlands)	glucose-6-fosfatedehydrogenase:aanwezigheid:moment:gedroogde bloedspot:ordinaal:
pl-PL	Polish (Poland)	Dehydrogenaza glukozo-6-fosforanu:granica wykrywalności:punkt w czasie:sucha kropla krwi:półilościowy:
pt-BR	Portuguese (Brazil)	Glicose-6-Fosfato Dehidrogenase:ACnc:Pt:SgPapel:Ord: Synonyms: Phos; Phosphrous; Phosphorous; Pi; i Phos; PO4; Phosphorus; Inorganic phosphate; Phosphate total; G6PD; G-6-PD; Glucose-6-PD; GPD; G6PDH; Glucose-6-PDH; Glu; Gluc; Glucoseur; Arbitrary concentration; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; Dehydrog; Dehyrdogenase; Chemistry
ru-RU	Russian (Russian Federation)	Глюкозо-6-фосфат дегидрогеназа:PrThr:ТчкВрм:Кр.Сух.капл:Пор: Synonyms: Кровь Кровь сухая капля Порядковый Точка во времени;Момент
tr-TR	Turkish (Turkey)	Glukoz-6-Fosfat dehidrojenaz:MevcEşik:Zmlı:Kan.nokta:Srl: Synonyms: Mevcut
zh-CN	Chinese (China)	葡萄糖-6-磷酸脱氢酶:存在情况或阈值:时间点:全血.斑点:序数型: Synonyms: G6PD;G-6-PD;G6PDH;GPD;葡萄糖-6-PD;葡萄糖-6-PDH Glu;Gluc;右旋糖;葡糖 i Phos;Phos;Pi;PO4;总磷酸;无机磷酸;无机磷酸;磷酸根;磷酸盐;磷酸酯依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类去氢酶存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值）时刻;随机;随意;瞬间血;血液

62300-9 Lysosomal storage disorders newborn screening panel

Reference Information

Type	Source	Reference
Article	National Library of Medicine	Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Lysosomal storage disorders newborn screening panel
Property: -
Time: Pt
System: Bld.dot
Scale: -
Method

Additional Names

Short Name: LSD NBS pnl DBS
Display Name: Lysosomal storage disorders NBS panel (DBS)
Consumer Name Alpha Get Info: Lysosomal Storage Disorders NBS Panel, Dried blood spot

Basic Attributes

Class: PANEL.CHEM
Type: Laboratory
First Released: Version 2.34
Last Updated: Version 2.77
Order vs. Observation: Order
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Cribado de trastornos de almacenamiento lisosomal en recién nacido:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX	Spanish (Mexico)	Panel de cribado neonatal de trastornos por almacenamiento lisosómico:-:Punto temporal:DBS:-:
fr-FR	French (France)	Maladie lysosomiales dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT	Italian (Italy)	Disturbo da accumulo lisosomiale, panel screening neonatale:-:Pt:Sangue.su carta da filtro:-: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per disturbo da accumulo Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL	Dutch (Netherlands)	lysosomale stapelingsziekte pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
pt-BR	Portuguese (Brazil)	Doenças de depósito lisossômico painel de triagem neonatal::Pt:SgPapel:-:
ru-RU	Russian (Russian Federation)	Лизосомальные болезни накопления новорождённых скрининг панель:-:ТчкВрм:Кр.Сух.капл:-: Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN	Chinese (China)	溶酶体贮积症新生儿筛查组套:-:时间点:全血.斑点:-: Synonyms: Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验医嘱组合类检验项目医嘱组合类检验项目组合类溶酶体累积病;lysosomal storage diseases;溶酶体贮积病;溶酶体储积疾病;Lysosomal storage disorders 溶酶体贮积症（溶酶体贮积病、溶酶体储积疾病、溶酶体储存障碍、溶酶体蓄积病、溶酶体堆积病）新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;溶酶体贮积症新生儿筛查组合;溶酶体贮积病新生儿筛查医嘱组;溶酶体储积病新生儿筛查医嘱组;Lysosomal storage diseases;Lysosomal storage disorders 筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验组组合组合医嘱组合类组套血;血液

62301-7 Lysosomal storage disorders newborn screen interpretation

Part Descriptions

LP111174-1 Lysosomal storage disorders
Lysosomal storage diseases (LSDs) are a group of approximately 40 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomal storage diseases result when a specific organelle in the body's cells - the lysosome - malfunctions.

Tay-Sachs disease was the first of these disorders to be described, followed by Gaucher disease.

Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar containing proteins) or so-called mucopolysaccharides. Individually, LSDs occur with incidences of less than 1:100.000, however, as a group the incidence is about 1:5000 - 1:10.000. Most of these disorders are autosomal recessively inherited, however a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome (MPS II). Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Wikipedia

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Lysosomal storage disorders
Property: Imp
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: LSD DBS-Imp
Display Name: Lysosomal storage disorders (DBS) [Interp]
Consumer Name Alpha Get Info: Lysosomal storage disorders, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.34
Last Updated: Version 2.71
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation

Preferred Answer List LL840-0

Answer	Code	Score	Answer ID
In range			LA18592-8
Borderline			LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)			LA11884-6
Out of range			LA18593-6
Out of range requiring further dried blood spot testing for at least one condition			LA12430-7
Out of range requiring immediate referral			LA25817-0
Out of range requiring immediate second-tier testing for at least one condition			LA12431-5
Out of range requiring deferred follow-up for at least one condition			LA18594-4
One or more tests pending			LA16204-2
Specimen unsatisfactory for at least one condition			LA16205-9

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Trastornos de almacenamiento lisosomal:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Trastornos por almacenamiento lisosómico:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Maladie lysosomiales:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE	French (Belgium)	Lysosomes.Maladie stockage.:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Disturbo da accumulo lisosomiale:Imp:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	lysosomale stapelingsziekte:interpretatie:moment:gedroogde bloedspot:nominaal:
pt-BR	Portuguese (Brazil)	Doenças de depósito lisossômico::Pt:SgPapel:Nom:
ru-RU	Russian (Russian Federation)	Лизосомальные болезни накопления:Впчт:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Lizozomal depo bozukluğu:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	溶酶体贮积症:印象:时间点:全血.斑点:名义型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释时刻;随机;随意;瞬间溶酶体累积病;lysosomal storage diseases;溶酶体贮积病;溶酶体储积疾病;Lysosomal storage disorders 血;血液

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

62303-3 Lysosomal storage disorders newborn screening comment-discussion

Part Descriptions

LP111174-1 Lysosomal storage disorders
Lysosomal storage diseases (LSDs) are a group of approximately 40 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomal storage diseases result when a specific organelle in the body's cells - the lysosome - malfunctions.

Tay-Sachs disease was the first of these disorders to be described, followed by Gaucher disease.

Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar containing proteins) or so-called mucopolysaccharides. Individually, LSDs occur with incidences of less than 1:100.000, however, as a group the incidence is about 1:5000 - 1:10.000. Most of these disorders are autosomal recessively inherited, however a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome (MPS II). Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Wikipedia

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Lysosomal storage disorders newborn screening comment-discussion
Property: Txt
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: LSD NBS comment
Display Name: Lysosomal storage disorders newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info: Lysosomal storage disorders newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.34
Last Updated: Version 2.42
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Trastornos de almacenamiento lisosomal screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX	Spanish (Mexico)	Trastornos por almacenamiento lisosómico cribado neonatal comentario / discusión:Texto:Punto temporal:DBS:Narrativo:
fr-FR	French (France)	Maladie lysosomiales dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE	French (Belgium)	Lysosomes.Maladie stockage. Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT	Italian (Italy)	Disturbo da accumulo lisosomiale , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica Commento-discussione di screening neonatale per disturbo da accumulo lisosomiale Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL	Dutch (Netherlands)	lysosomale stapelingsziekte screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
pt-BR	Portuguese (Brazil)	Doenças de depósito lisossômico triagem neonatal comentários-discussão::Pt:SgPapel:Nar:
ru-RU	Russian (Russian Federation)	Лизосомальные болезни накопления новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR	Turkish (Turkey)	Lizozomal depo bozukluğu yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN	Chinese (China)	溶酶体贮积症新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型: Synonyms: Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型备注备注;评论;注解;说明;评语意见文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验注解溶酶体累积病;lysosomal storage diseases;溶酶体贮积病;溶酶体储积疾病;Lysosomal storage disorders 溶酶体贮积症新生儿筛查注释/讨论短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验血;血液解说解释评定评注评论评语说明

62302-5 Lysosomal storage disorders suspected [Identifier] in DBS

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Lysosomal storage disorders suspected
Property: Prid
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: LSD suspected DBS
Display Name: Lysosomal storage disorders suspected Nom (DBS)
Consumer Name Alpha Get Info: Lysosomal storage disorders suspected, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.34
Last Updated: Version 2.61
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation

Preferred Answer List LL1043-0

Answer	Code	Score	Answer ID
Fabry disease Copyright http://snomed.info/sct ID:16652001 Fabry's disease (disorder)			LA14036-0
Pompe disease Copyright http://snomed.info/sct ID:274864009 Glycogen storage disease, type II (disorder)			LA14037-8
Krabbe disease Copyright http://snomed.info/sct ID:192782005 Galactosylceramide beta-galactosidase deficiency (disorder)			LA14038-6
Niemann Pick disease A/B Copyright http://snomed.info/sct ID:58459009 Sphingomyelin/cholesterol lipidosis (disorder)			LA14040-2
Gaucher disease Copyright http://snomed.info/sct ID:190794006 Glucosylceramide beta-glucosidase deficiency (disorder)			LA14039-4
Mucopolysaccharidosis type I Copyright http://snomed.info/sct ID:75610003 Mucopolysaccharidosis type I (disorder)			LA25797-4

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Sospecha de trastornos de almacenamiento lisosomal:Presencia o identidad:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Se sospecha de trastornos por almacenamiento lisosómico:Presencia o identidad:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Maladie lysosomiales suspectées:Identification:Ponctuel:Sang buvard:Résultat nominal:
fr-BE	French (Belgium)	Lysosomes.Suspicion Maladie stockage.:Présence ou identité:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Disturbo da accumulo lisosomiale sospetto:Prid:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	lysosomale stapelingsziekte verdenking:identificator:moment:gedroogde bloedspot:nominaal:
pt-BR	Portuguese (Brazil)	Suspeita de Doenças de depósito lisossômico:Ident:Pt:SgPapel:Nom:
ru-RU	Russian (Russian Federation)	Лизосомальные болезни накопления предполагаемые:ПрИд:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Кровь Кровь сухая капля Номинальный;Именной Присутствие или Идентификация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Lizozomal depo bozukluğu şüpheli:MevcKimlik:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	所怀疑的溶酶体贮积症:存在与否或特征标识:时间点:全血.斑点:名义型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类存在;存在与否;特征标识;身份;身份标识所怀疑的（已怀疑的、疑似）溶酶体贮积症（溶酶体贮积病、溶酶体储积疾病、溶酶体储存障碍、溶酶体蓄积病、溶酶体堆积病）;溶酶体贮积症;溶酶体累积病;lysosomal storage diseases;溶酶体贮积病;溶酶体储积疾病;Lysosomal storage disorders 时刻;随机;随意;瞬间溶酶体累积病;lysosomal storage diseases;溶酶体贮积病;溶酶体储积疾病;Lysosomal storage disorders 血;血液

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

62304-1 Fabry disease newborn screening panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Fabry disease newborn screening panel
Property: -
Time: Pt
System: Bld.dot
Scale: -
Method

Additional Names

Short Name: Fabry disease NBS pnl DBS
Display Name: Fabry disease NBS panel (DBS)
Consumer Name Alpha Get Info: Fabry Disease NBS Panel, Dried blood spot

Basic Attributes

Class: PANEL.CHEM
Type: Laboratory
First Released: Version 2.34
Last Updated: Version 2.77
Order vs. Observation: Order
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Cribado de enfermedad de Fabry en recién nacido:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX	Spanish (Mexico)	Panel de cribado neonatal de la enfermedad de Fabry:-:Punto temporal:DBS:-:
fr-FR	French (France)	Maladie de Fabry dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT	Italian (Italy)	Malattia di Fabry, panel screening neonatale:-:Pt:Sangue.su carta da filtro:-: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per malattia di Fabry Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL	Dutch (Netherlands)	ziekte van Fabry pasgeborene screeningspanel:-:moment:gedroogde bloedspot:-:
pt-BR	Portuguese (Brazil)	Doença de Fabry painel de triagem neonatal::Pt:SgPapel:-:
ru-RU	Russian (Russian Federation)	Фабри болезнь новорожденных скрининг панель:-:ТчкВрм:Кр.Сух.капл:-: Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN	Chinese (China)	法布里病新生儿筛查组套:-:时间点:全血.斑点:-: Synonyms: Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验医嘱组合类检验项目医嘱组合类检验项目组合类法布莱病;Fabry 病法布里病新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;法布里病新生儿筛查组合;法布莱病新生儿筛查医嘱组;Fabry 病新生儿筛查医嘱组疾病症筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验组组合组合医嘱组合类组套血;血液

62305-8 Fabry disease newborn screen interpretation

Observation Required in Panel

Required

Fully-Specified Name

Component: Fabry disease
Property: Imp
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: Fabry disease DBS-Imp
Display Name: Fabry disease (DBS) [Interp]
Consumer Name Alpha Get Info: Fabry disease, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.34
Last Updated: Version 2.56
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation

Preferred Answer List LL840-0

Answer	Code	Score	Answer ID
In range			LA18592-8
Borderline			LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)			LA11884-6
Out of range			LA18593-6
Out of range requiring further dried blood spot testing for at least one condition			LA12430-7
Out of range requiring immediate referral			LA25817-0
Out of range requiring immediate second-tier testing for at least one condition			LA12431-5
Out of range requiring deferred follow-up for at least one condition			LA18594-4
One or more tests pending			LA16204-2
Specimen unsatisfactory for at least one condition			LA16205-9

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Enfemedad de Fabry:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Enfermedad de Fabry:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-CA	French (Canada)	Toxine 1 du syndrôme du choc toxique de Staphylococcus aureus+Staphylococcus aureus entérotoxine B:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-FR	French (France)	Maladie de Fabry:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE	French (Belgium)	Maladie de Fabry:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Malattia di Fabry:Imp:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	ziekte van Fabry:interpretatie:moment:gedroogde bloedspot:nominaal:
pt-BR	Portuguese (Brazil)	Doença de Fabry::Pt:SgPapel:Nom:
ru-RU	Russian (Russian Federation)	Фабри болезнь:Впчт:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Fabry hastalığı:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	法布里病:印象:时间点:全血.斑点:名义型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释时刻;随机;随意;瞬间法布莱病;Fabry 病疾病症血;血液

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

62306-6 Fabry disease newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Fabry disease newborn screening comment-discussion
Property: Txt
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: Fabry disease NBS comment
Display Name: Fabry disease newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info: Fabry disease newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.34
Last Updated: Version 2.42
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Enfemedad de Fabry screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX	Spanish (Mexico)	Comentario-discusión sobre la detección del recién nacido de la enfermedad de Fabry:Texto:Punto temporal:DBS:Narrativo:
fr-FR	French (France)	Maladie de Fabry dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE	French (Belgium)	Maladie de Fabry Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT	Italian (Italy)	Malattia di Fabry , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica Commento-discussione di screening neonatale per malattia di Fabry Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL	Dutch (Netherlands)	ziekte van Fabry screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
pt-BR	Portuguese (Brazil)	Doença de Fabry triagem neonatal comentários-discussão::Pt:SgPapel:Nar:
ru-RU	Russian (Russian Federation)	Фабри болезнь новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR	Turkish (Turkey)	Fabry hastalığı yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN	Chinese (China)	法布里病新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型: Synonyms: Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型备注备注;评论;注解;说明;评语意见文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验法布莱病;Fabry 病法布里病新生儿筛查注释/讨论注解疾病症短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验血;血液解说解释评定评注评论评语说明

55908-8 Alpha galactosidase A [Enzymatic activity/volume] in DBS

Term Description

This is a newborn screening test to detect enzymatic activity in dried blood spot to screen for Fabry disease, which is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin called angiokeratomas; decreased sweating (hypohidrosis); corneal opacity; and hearing loss. Fabry disease can also involve potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. This disorder is caused by mutations in the GLA gene; it has an X-linked pattern of inheritance.
Source: Regenstrief LOINC

Part Descriptions

LP14012-6 Alpha galactosidase A
Alpha (A) galactosidase is an enzyme used in sphingolipid metabolism. The deficiency of the enzyme leads to accumulation of various products that may lead to Fabry's disease, which is lysosomal storage disorder. Source: Regenstrief Institute

Reference Information

Type	Source	Reference
Article	National Library of Medicine	Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Alpha galactosidase A
Property: CCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: A-Galactosidase A DBS-cCnc
Display Name: Alpha galactosidase A (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info: Alpha Galactosidase A, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.70
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-AT	German (Austria)	Synonyms: Alpha-Galaktosid./BT
es-ES	Spanish (Spain)	Alfa galactosidasa A:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Alfa galactosidasa A:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Alfagalaktosidaas:CCnc:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA	French (Canada)	Alpha galactosidase A:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Alpha galactosidase A:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Alpha galactosidase A:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Alfa galattosidasi A:CCnC:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	alfa-galactosidase A:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Alfa galactosidase:#N/A:Pt:SgPapel:Qn: Synonyms: ; A-Galactosidase; Morquio disease type B; MPS IV B; GM1-gangliosidosis; Alpha-D-galactosidase; Alpha galactosidase A; Catalytic Concentration; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Alfa; Chemistry
ru-RU	Russian (Russian Federation)	Альфа галактозидаза A:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR	Turkish (Turkey)	Alfa galaktozidaz A:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	Alpha 半乳糖苷酶:催化浓度:时间点:全血.斑点:定量型: Synonyms: A 型 A-D-半乳糖苷酶;A-D-半乳糖苷酶 A;Alpha 半乳糖苷酶 A;Alpha-D-半乳糖苷酶;Alpha-D-半乳糖苷酶 A;Alpha-半乳糖苷酶;Alpha-半乳糖苷酶 A;A-半乳糖苷酶;A-半乳糖苷酶 A;GM1-神经节苷脂沉积症;GM1-神经节苷脂贮积病;Morquio 氏病 B 型;Morquio 病 B 型;MPS IV B;α-D-半乳糖苷酶;α-D-半乳糖苷酶 A;α半乳糖苷酶;α-半乳糖苷酶;α半乳糖苷酶 A;α-半乳糖苷酶 A;半乳糖苷酶病;半乳糖苷酶缺乏病 α 催化浓度(单位体积);单位体积内酶的单位数全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液阿尔法

Example Units

Unit	Source
umol/L/h	Example UCUM Units

62307-4 Krabbe disease newborn screening panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Krabbe disease newborn screening panel
Property: -
Time: Pt
System: Bld.dot
Scale: -
Method

Additional Names

Short Name: Krabbe disease NBS pnl DBS
Display Name: Krabbe disease NBS panel (DBS)
Consumer Name Alpha Get Info: Krabbe Disease NBS Panel, Dried blood spot

Basic Attributes

Class: PANEL.CHEM
Type: Laboratory
First Released: Version 2.34
Last Updated: Version 2.77
Order vs. Observation: Order
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Cribado de enfermedad de Krabbe en recién nacido:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX	Spanish (Mexico)	Panel de detección de recién nacidos con enfermedad de Krabbe:-:Punto temporal:DBS:-:
fr-FR	French (France)	Maladie de Krabbe dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT	Italian (Italy)	Malattia di Krabbe, panel screening neonatale:-:Pt:Sangue.su carta da filtro:-: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per malattia di Krabbe Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL	Dutch (Netherlands)	ziekte van Krabbe pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
pt-BR	Portuguese (Brazil)	Doença de Krabbe painel de triagem neonatal::Pt:SgPapel:-:
ru-RU	Russian (Russian Federation)	Краббе болезнь новорожденных скрининг панель:-:ТчкВрм:Кр.Сух.капл:-: Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN	Chinese (China)	遗传性脑白质萎缩新生儿筛查组套:-:时间点:全血.斑点:-: Synonyms: Asympt SCN 克拉伯病;Krabbe 病全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验医嘱组合类检验项目医嘱组合类检验项目组合类疾病症筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验组组合组合医嘱组合类组套血;血液遗传性脑白质萎缩新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;遗传性脑白质萎缩新生儿筛查组合; 克拉伯病新生儿筛查医嘱组;Krabbe 病新生儿筛查医嘱组

62308-2 Krabbe disease newborn screen interpretation

Observation Required in Panel

Required

Fully-Specified Name

Component: Krabbe disease
Property: Imp
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: Krabbe disease DBS-Imp
Display Name: Krabbe disease (DBS) [Interp]
Consumer Name Alpha Get Info: Krabbe disease, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.34
Last Updated: Version 2.56
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation

Preferred Answer List LL840-0

Answer	Code	Score	Answer ID
In range			LA18592-8
Borderline			LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)			LA11884-6
Out of range			LA18593-6
Out of range requiring further dried blood spot testing for at least one condition			LA12430-7
Out of range requiring immediate referral			LA25817-0
Out of range requiring immediate second-tier testing for at least one condition			LA12431-5
Out of range requiring deferred follow-up for at least one condition			LA18594-4
One or more tests pending			LA16204-2
Specimen unsatisfactory for at least one condition			LA16205-9

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Enfermedad de Krabbe:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Enfermedad de Krabbe:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-CA	French (Canada)	Maladie de Krabbe:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-FR	French (France)	Maladie de Krabbe:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE	French (Belgium)	Maladie de Krabbe:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Malattia di Krabbe:Imp:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	ziekte van Krabbe:interpretatie:moment:gedroogde bloedspot:nominaal:
pt-BR	Portuguese (Brazil)	Doença de Krabbe::Pt:SgPapel:Nom:
ru-RU	Russian (Russian Federation)	Краббе болезнь:Впчт:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Krabbe hastalığı:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	遗传性脑白质萎缩:印象:时间点:全血.斑点:名义型: Synonyms: 克拉伯病;Krabbe 病全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释时刻;随机;随意;瞬间疾病症血;血液

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

62309-0 Krabbe disease newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Krabbe disease newborn screening comment-discussion
Property: Txt
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: Krabbe disease NBS comment
Display Name: Krabbe disease newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info: Krabbe disease newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.34
Last Updated: Version 2.42
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Enfermedad de Krabbe screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX	Spanish (Mexico)	Comentario-discusión sobre la detección del recién nacido de la enfermedad de Krabbe:Texto:Punto temporal:DBS:Narrativo:
fr-FR	French (France)	Maladie de Krabbe dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE	French (Belgium)	Maladie de Krabbe Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT	Italian (Italy)	Malattia di Krabbe , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica Commento-discussione di screening neonatale per malattia di Krabbe Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL	Dutch (Netherlands)	ziekte van Krabbe screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
pt-BR	Portuguese (Brazil)	Doença de Krabbe triagem neonatal comentários-discussão::Pt:SgPapel:Nar:
ru-RU	Russian (Russian Federation)	Краббе болезнь новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR	Turkish (Turkey)	Krabbe hastalığı yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN	Chinese (China)	遗传性脑白质萎缩新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型: Synonyms: Asympt SCN 克拉伯病;Krabbe 病全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型备注备注;评论;注解;说明;评语意见文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验注解疾病症短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验血;血液解说解释评定评注评论评语说明遗传性脑白质萎缩新生儿筛查注释/讨论

62310-8 Galactosylceramidase [Enzymatic activity/volume] in DBS

Part Descriptions

LP14027-4 Galactosylceramidase
An enzyme that hydrolyzes galactose from ceramide monohexosides. Deficiency of this enzyme may cause globoid cell leukodystrophy (LEUKODYSTROPHY, GLOBOID CELL). EC 3.2.1.46. Source: National Library of Medicine, MeSH 2006

Reference Information

Type	Source	Reference
Article	National Library of Medicine	Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Galactosylceramidase
Property: CCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: GALC DBS-cCnc
Display Name: Galactosylceramidase (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info: Galactosylceramidase, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.34
Last Updated: Version 2.61
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Galactosilceramidasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Galactosilceramidasa:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Galaktosüülkeramidaas:CCnc:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA	French (Canada)	Galactosylcéramidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Galactosylcéramidase:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Galactosylcéramidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Galattosilceramidasi:CCnC:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	galactosylceramidase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Galactocerebrosidase::Pt:SgPapel:Qn:
ru-RU	Russian (Russian Federation)	Галактозилцерамидаза:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR	Turkish (Turkey)	Galaktozilseramidaz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	半乳糖苷神经酰胺酶:催化浓度:时间点:全血.斑点:定量型: Synonyms: Beta-半乳糖脑苷沉积症;Krabbe 氏病;Krabbe 白质营养不良;Krabbe 脑白质病变;Krabbe 脑白质营养不良;β-半乳糖脑苷沉积症;克拉勃脑白质营养不良;半乳培脑苷脂累积病;半乳糖脑苷脂酶;球样细胞脑白质营养不良;脑白质营养不良催化浓度(单位体积);单位体积内酶的单位数全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L/h	Example UCUM Units

62311-6 Gaucher disease newborn screening panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Gaucher disease newborn screening panel
Property: -
Time: Pt
System: Bld.dot
Scale: -
Method

Additional Names

Short Name: Gaucher disease NBS pnl DBS
Display Name: Gaucher disease NBS panel (DBS)
Consumer Name Alpha Get Info: Gaucher Disease NBS Panel, Dried blood spot

Basic Attributes

Class: PANEL.CHEM
Type: Laboratory
First Released: Version 2.34
Last Updated: Version 2.77
Order vs. Observation: Order
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Cribado de enfermedad de Gaucher recién nacido:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX	Spanish (Mexico)	Panel de cribado neonatal de la enfermedad de Gaucher:-:Punto temporal:DBS:-:
fr-FR	French (France)	Maladie de Gaucher dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT	Italian (Italy)	Malattia di Gaucher, panel screening neonatale:-:Pt:Sangue.su carta da filtro:-: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per malattia di Gaucher Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL	Dutch (Netherlands)	ziekte van Gaucher pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
pt-BR	Portuguese (Brazil)	Doença de Gaucher painel de triagem neonatal::Pt:SgPapel:-:
ru-RU	Russian (Russian Federation)	Гоше болезнь новорожденных скрининг панель:-:ТчкВрм:Кр.Сух.капл:-: Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN	Chinese (China)	戈谢病新生儿筛查组套:-:时间点:全血.斑点:-: Synonyms: Asympt Gaucher 病;高雪病;Gaucher disease;GD SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类戈谢病新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;戈谢病新生儿筛查组合;Gaucher 病新生儿筛查医嘱组;高雪病新生儿筛查医嘱组新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验医嘱组合类检验项目医嘱组合类检验项目组合类疾病症筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验组组合组合医嘱组合类组套血;血液

62312-4 Gaucher disease newborn screen interpretation

Observation Required in Panel

Required

Fully-Specified Name

Component: Gaucher disease
Property: Imp
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: Gaucher disease DBS-Imp
Display Name: Gaucher disease (DBS) [Interp]
Consumer Name Alpha Get Info: Gaucher disease, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.34
Last Updated: Version 2.56
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation

Preferred Answer List LL840-0

Answer	Code	Score	Answer ID
In range			LA18592-8
Borderline			LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)			LA11884-6
Out of range			LA18593-6
Out of range requiring further dried blood spot testing for at least one condition			LA12430-7
Out of range requiring immediate referral			LA25817-0
Out of range requiring immediate second-tier testing for at least one condition			LA12431-5
Out of range requiring deferred follow-up for at least one condition			LA18594-4
One or more tests pending			LA16204-2
Specimen unsatisfactory for at least one condition			LA16205-9

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Enfermedad de Gaucher:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Enfermedad de Gaucher:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Maladie de Gaucher:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
it-IT	Italian (Italy)	Malattia di Gaucher:Imp:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	ziekte van Gaucher:interpretatie:moment:gedroogde bloedspot:nominaal:
pt-BR	Portuguese (Brazil)	Doença de Gaucher::Pt:SgPapel:Nom:
ru-RU	Russian (Russian Federation)	Гоше болезнь:Впчт:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Gaucher hastalığı:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	戈谢病:印象:时间点:全血.斑点:名义型: Synonyms: Gaucher 病;高雪病;Gaucher disease;GD 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释时刻;随机;随意;瞬间疾病症血;血液

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

62313-2 Gaucher disease newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Gaucher disease newborn screening comment-discussion
Property: Txt
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: Gaucher disease NBS comment
Display Name: Gaucher disease newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info: Gaucher disease newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.34
Last Updated: Version 2.42
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Enfermedad de Gaucher screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX	Spanish (Mexico)	Comentario-discusión sobre la detección del recién nacido de la enfermedad de Gaucher:Texto:Punto temporal:DBS:Narrativo:
fr-FR	French (France)	Maladie de Gaucher dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
it-IT	Italian (Italy)	Malattia di Gaucher , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica Commento-discussione di screening neonatale per malattia di Gaucher Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL	Dutch (Netherlands)	ziekte van Gaucher screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
pt-BR	Portuguese (Brazil)	Doença de Gaucher triagem neonatal comentários-discussão::Pt:SgPapel:Nar:
ru-RU	Russian (Russian Federation)	Гоше болезнь новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR	Turkish (Turkey)	Gaucher hastalığı yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN	Chinese (China)	戈谢病新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型: Synonyms: Asympt Gaucher 病;高雪病;Gaucher disease;GD SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型备注备注;评论;注解;说明;评语意见戈谢病新生儿筛查注释/讨论文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验注解疾病症短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验血;血液解说解释评定评注评论评语说明

55917-9 Glucosylceramidase [Enzymatic activity/volume] in DBS

Part Descriptions

LP15604-9 Glucosylceramidase
A glycosidase that hydrolyzes a glucosylceramide to yield free ceramide plus glucose. Deficiency of this enzyme leads to abnormally high concentrations of glucosylceramide in the brain in GAUCHER DISEASE. EC 3.2.1.45. Source: National Library of Medicine, MeSH 2006

Reference Information

Type	Source	Reference
Article	National Library of Medicine	Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Glucosylceramidase
Property: CCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Glucosylceramidase DBS-cCnc
Display Name: Glucosylceramidase (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info: Glucosylceramidase, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.70
Change Reason: Updated Component from "Acid beta glucosidase" per the recommended nomenclature [UniProt: P04062]
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Beta-Glucosidase:Katalytische Konzentration:Zeitpunkt:Blut.Tropfen:Quantitativ:
es-ES	Spanish (Spain)	Glucosilceramidasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Glucosilceramidasa:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Glükosüülkeramidaas:CCnc:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA	French (Canada)	Glucosylcéramidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Glucosylcéramidase:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Glucosylcéramidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Glucosilceramidasi:CCnC:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	glucosylceramidase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pl-PL	Polish (Poland)	Ceramidaza glukozylowa:stężenie katalityczne:punkt w czasie:sucha kropla krwi:ilościowy: Synonyms: Ceramidaza glukozylowa
pt-BR	Portuguese (Brazil)	Beta glucosidase:#N/A:Pt:SgPapel:Qn: Synonyms: Glucoinvertase; Glucosidosucrase; Maltase; Maltase-glucoamylase; B-Glucosidase; Gaucher disease; Glucocerebrosidase; Catalytic Concentration; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; B; Chemistry
ru-RU	Russian (Russian Federation)	Глюкозилцерамидаза:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR	Turkish (Turkey)	Glukozilseramidaz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	葡糖神经酰胺酶:催化浓度:时间点:全血.斑点:定量型: Synonyms: Beta 葡糖脑苷脂酶;Beta-葡糖脑苷脂酶;B-葡糖脑苷脂酶;β-葡糖脑苷脂酶;葡糖基神经酰胺酶;葡糖基苷酰鞘氨醇酶;葡萄糖基神经酰胺酶催化浓度(单位体积);单位体积内酶的单位数全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
umol/L/h	Example UCUM Units

79563-3 Mucopolysaccharidosis type I newborn screening panel

Term Description

The Mucopolysaccharidosis type I (MPS I) newborn screening panel is used to report the results of newborn screening for the diagnosis of MPS I, also known as Hurler syndrome, an inherited disorder in which the body is unable to produce an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). MPS I is caused by mutations in the IDUA gene and has an autosomal recessive pattern of inheritance.
Source: Regenstrief LOINC

Fully-Specified Name

Component: Mucopolysaccharidosis type I newborn screening panel
Property: -
Time: Pt
System: Bld.dot
Scale: -
Method

Additional Names

Short Name: MPS I NBS Pnl DBS
Display Name: Mucopolysaccharidosis type I NBS panel (DBS)
Consumer Name Alpha Get Info: Mucopolysaccharidosis Type I NBS Panel, Dried blood spot

Basic Attributes

Class: PANEL.CHEM
Type: Laboratory
First Released: Version 2.54
Last Updated: Version 2.77
Order vs. Observation: Order
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Panel de cribado neonatal Mucopolisacaridosis tipo I:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX	Spanish (Mexico)	Panel de cribado neonatal de mucopolisacaridosis tipo I:-:Punto temporal:DBS:-:
fr-FR	French (France)	Mucopolysaccharidoses type I dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT	Italian (Italy)	Mucopolisaccaridosi tipologia 1 screening neonatale, panel:-:Pt:Sangue.su carta da filtro:-: Synonyms: Chimica Panel Mucopolisaccaridosi tipologia 1 screening ne Panel screening neonatale Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL	Dutch (Netherlands)	mucopolysaccharidose type I pasgeborene screening panel:-:moment:gedroogde bloedspot:-: Synonyms: soort
zh-CN	Chinese (China)	粘多糖贮积症 I 型新生儿筛查组套:-:时间点:全血.斑点:-: Synonyms: Asympt I 型 SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类型多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验医嘱组合类检验项目医嘱组合类检验项目组合类筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验粘多糖病 I 型;黏多糖病 I 型;黏多糖贮积症 I 型;粘多糖沉积病 I 型;黏多糖沉积病 I 型;MPS-I;MPSⅠ 粘多糖病 I 型;黏多糖病 I 型;黏多糖贮积症 I 型;粘多糖沉积病 I 型;黏多糖沉积病 I 型;MPS-I;MPSⅠ新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）组组合组合医嘱组合类组套血;血液

55909-6 Alpha-L-iduronidase [Enzymatic activity/volume] in DBS

Part Descriptions

LP14016-7 Alpha-L-iduronidase
Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), Hurler's disease or gargoylism, is a genetic disorder that results in the buildup of mucopolysaccharides due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of mucopolysaccharides in lysosomes. Without this enzyme, a buildup of heparan sulfate and dermatan sulfate occurs in the body. Symptoms appear during childhood and early death can occur due to organ damage. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Alpha-L iduronidase

Fully-Specified Name

Component: Alpha-L-iduronidase
Property: CCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: A-L-Iduronidase DBS-cCnc
Display Name: Alpha-L-iduronidase (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info: Alpha-L-iduronidase, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.70
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-AT	German (Austria)	Synonyms: Alpha-Iduronidase/BT
es-ES	Spanish (Spain)	Alfa-L-iduronidasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Alfa-L-iduronidasa:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Alfa-L-iduronidaas:CCnc:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA	French (Canada)	Alpha-L-iduronidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Alpha L-idurodinase:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Alpha-L-iduronidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Alfa-L-iduronidasi:CCnC:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	alfa-L-iduronidase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Alfa-L-iduronidase:#N/A:Pt:SgPapel:Qn: Synonyms: ; A-L-Iduronidase; Hurler disease; Scheie disease; Catalytic Concentration; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Left; Alfa; Chemistry
ru-RU	Russian (Russian Federation)	Альфа-L-идуронидазы:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR	Turkish (Turkey)	Alfa-L-iduronidaz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	Alpha-L-艾杜糖苷酶:催化浓度:时间点:全血.斑点:定量型: Synonyms: Alpha-L-艾杜糖醛酸苷酶;A-L-艾杜糖苷酶;A-L-艾杜糖醛酸苷酶;Hurler 氏病;Hurler 病;I 型粘多糖贮积病;Scheie 氏病;Scheie 病;α-L-艾杜糖苷酶;α-L-艾杜糖醛酸苷酶;α-L-艾牡糖醛酸酶;粘多糖代谢病 1 型;粘多糖代谢病 I 型;粘多糖第一型 S 分型（Scheie 症候群）;粘多糖贮积症 1 型;粘多糖贮积症 I 型 α 催化浓度(单位体积);单位体积内酶的单位数全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺左左侧左侧（Left，L）时刻;随机;随意;瞬间血;血液阿尔法

Example Units

Unit	Source
umol/h/L	Example UCUM Units

79564-1 Mucopolysaccharidosis type I newborn screen interpretation

Term Description

This observation indicates whether the newborn screen was in-range or out-of-range for the analytes related to Mucopolysaccharidosis type I (MPS I).
Source: Regenstrief LOINC

Part Descriptions

LP203226-8 Mucopolysaccharidosis type I
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types. Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme. The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS I, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[MedlinePlus Condition: mucopolysaccharidosis-type-i] Source: Genetic Home Reference, National Library of Medicine

Fully-Specified Name

Component: Mucopolysaccharidosis type I
Property: Imp
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: MPS I DBS-Imp
Display Name: Mucopolysaccharidosis type I (DBS) [Interp]
Consumer Name Alpha Get Info: Mucopolysaccharidosis Type I, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.54
Last Updated: Version 2.54
Order vs. Observation: Observation

Preferred Answer List LL840-0

Answer	Code	Score	Answer ID
In range			LA18592-8
Borderline			LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)			LA11884-6
Out of range			LA18593-6
Out of range requiring further dried blood spot testing for at least one condition			LA12430-7
Out of range requiring immediate referral			LA25817-0
Out of range requiring immediate second-tier testing for at least one condition			LA12431-5
Out of range requiring deferred follow-up for at least one condition			LA18594-4
One or more tests pending			LA16204-2
Specimen unsatisfactory for at least one condition			LA16205-9

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Mucopolisacaridosis tipo I:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Mucopolisacaridosis tipo I:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Mucopolysaccharidose type 1:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
it-IT	Italian (Italy)	Mucopolisaccaridosi tipologia 1:Imp:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	mucopolysaccharidose type I:interpretatie:moment:gedroogde bloedspot:nominaal: Synonyms: soort
tr-TR	Turkish (Turkey)	Mukopolisakkaridozis tip I:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	粘多糖贮积症 I 型:印象:时间点:全血.斑点:名义型: Synonyms: I 型全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释型时刻;随机;随意;瞬间粘多糖病 I 型;黏多糖病 I 型;黏多糖贮积症 I 型;粘多糖沉积病 I 型;黏多糖沉积病 I 型;MPS-I;MPSⅠ 血;血液

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

79565-8 Mucopolysaccharidosis type I newborn screening comment-discussion

Part Descriptions

LP203226-8 Mucopolysaccharidosis type I
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types. Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme. The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS I, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[MedlinePlus Condition: mucopolysaccharidosis-type-i] Source: Genetic Home Reference, National Library of Medicine

Fully-Specified Name

Component: Mucopolysaccharidosis type I newborn screening comment-discussion
Property: Txt
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: MPS I NBS comment
Display Name: Mucopolysaccharidosis type I newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info: Mucopolysaccharidosis Type I newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.54
Last Updated: Version 2.54
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Mucopolisacaridosis tipo I screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX	Spanish (Mexico)	Mucopolisacaridosis tipo I cribado neonatal comentario-discusión:Texto:Punto temporal:DBS:Narrativo:
fr-FR	French (France)	Mucopolysaccharidose type 1 dépistage nouveau né commentaire-discussion:Texte:Ponctuel:Sang buvard:Résultat textuel:
it-IT	Italian (Italy)	Mucopolisaccaridosi tipologia 1 , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL	Dutch (Netherlands)	mucopolysaccharidose type I screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel: Synonyms: soort
tr-TR	Turkish (Turkey)	Mukopolisakkaridozis tip I yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN	Chinese (China)	粘多糖贮积症 I 型新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型: Synonyms: Asympt I 型 SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型型备注备注;评论;注解;说明;评语意见文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验注解短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验粘多糖病 I 型;黏多糖病 I 型;黏多糖贮积症 I 型;粘多糖沉积病 I 型;黏多糖沉积病 I 型;MPS-I;MPSⅠ 血;血液解说解释评定评注评论评语说明

62315-7 Niemann Pick disease A/B newborn screening panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Niemann Pick disease A+B newborn screening panel
Property: -
Time: Pt
System: Bld.dot
Scale: -
Method

Additional Names

Short Name: Niemann Pick disease A/B NBS pnl DBS
Display Name: Niemann Pick disease A/B NBS panel (DBS)
Consumer Name Alpha Get Info: Niemann Pick Disease A/B NBS Panel, Dried blood spot

Basic Attributes

Class: PANEL.CHEM
Type: Laboratory
First Released: Version 2.34
Last Updated: Version 2.77
Order vs. Observation: Order
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Cribado de enfermedad de Niemann Pick A+B en recién nacido:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX	Spanish (Mexico)	Panel de cribado neonatal de enfermedad de Niemann Pick A + B:-:Punto temporal:DBS:-:
fr-FR	French (France)	Maladie de Niemann Pick A+B dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT	Italian (Italy)	Malattia di Niemann Pick A+B, panel screening neonatale:-:Pt:Sangue.su carta da filtro:-: Synonyms: Chimica Malattia di Niemann Pick A/B Panel screening neonatale Panel screening neonatale per malattia di Niemann Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL	Dutch (Netherlands)	ziekte van Niemann Pick A+B pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
pt-BR	Portuguese (Brazil)	Doença de Niemann Pick A+B painel de triagem neonatal::Pt:SgPapel:-:
ru-RU	Russian (Russian Federation)	Ниманн-Пик болезнь A+B новорождённый скрининг панель:-:ТчкВрм:Кр.Сух.капл:-: Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN	Chinese (China)	尼曼-匹克病 A+B 新生儿筛查组套:-:时间点:全血.斑点:-: Synonyms: A 型 A,B 型;AB 型 Asympt B 型 Niemann Pick 病 A+B;Niemann-Pick 病 A+B SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类尼曼-匹克病 A+B 新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;尼曼-匹克病 A+B 新生儿筛查组合;Niemann Pick 病 A+B 新生儿筛查医嘱组;Niemann-Pick 病 A+B 新生儿筛查医嘱组新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验医嘱组合类检验项目医嘱组合类检验项目组合类疾病症筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验组组合组合医嘱组合类组套血;血液

62318-1 Niemann Pick disease A/B newborn screen interpretation

Observation Required in Panel

Required

Fully-Specified Name

Component: Niemann Pick disease A+B
Property: Imp
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: Niemann Pick disease A/B DBS-Imp
Display Name: Niemann Pick disease A/B (DBS) [Interp]
Consumer Name Alpha Get Info: Niemann pick disease a/B, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.34
Last Updated: Version 2.56
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation

Preferred Answer List LL840-0

Answer	Code	Score	Answer ID
In range			LA18592-8
Borderline			LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)			LA11884-6
Out of range			LA18593-6
Out of range requiring further dried blood spot testing for at least one condition			LA12430-7
Out of range requiring immediate referral			LA25817-0
Out of range requiring immediate second-tier testing for at least one condition			LA12431-5
Out of range requiring deferred follow-up for at least one condition			LA18594-4
One or more tests pending			LA16204-2
Specimen unsatisfactory for at least one condition			LA16205-9

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Enfermedad de Niemann-Pick A+B:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Enfermedad de Niemann Pick A + B:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-CA	French (Canada)	Maladie de Niemann Pick A+B:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-FR	French (France)	Maladie de Niemann Pick A+B:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE	French (Belgium)	Maladie de Niemann Pick A+B:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Malattia di Niemann Pick A+B:Imp:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Impressione/interpretazione di studio Malattia di Niemann Pick A/B Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	ziekte van Niemann Pick A+B:interpretatie:moment:gedroogde bloedspot:nominaal:
ru-RU	Russian (Russian Federation)	Ниманна-Пика болезнь A+B:Впчт:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Niemann Pick hastalığı A+B:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	尼曼-匹克病 A+B:印象:时间点:全血.斑点:名义型: Synonyms: A 型 A,B 型;AB 型 B 型 Niemann Pick 病 A+B;Niemann-Pick 病 A+B 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释时刻;随机;随意;瞬间疾病症血;血液

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

62319-9 Niemann Pick disease A/B newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Niemann Pick disease A+B newborn screening comment-discussion
Property: Txt
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: Niemann Pick disease A/B NBS comment
Display Name: Niemann Pick disease A/B newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info: Niemann pick disease a/B newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.34
Last Updated: Version 2.42
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Enfermedad de Niemann-Pick A+B screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX	Spanish (Mexico)	Discusión de comentario sobre detección neonatal A + B de enfermedad de Niemann Pick:Texto:Punto temporal:DBS:Narrativo:
fr-FR	French (France)	Maladie de Niemann Pick A+B dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE	French (Belgium)	Maladie de Niemann Pick A+B Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT	Italian (Italy)	Malattia di Niemann Pick A+B , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica Commento-discussione di screening neonatale per malattia di Niemann Pick A/B Malattia di Niemann Pick A/B Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL	Dutch (Netherlands)	ziekte van Niemann Pick A+B screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
ru-RU	Russian (Russian Federation)	Ниманна-Пика болезнь A+B новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR	Turkish (Turkey)	Niemann Pick hastalığı A+B yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN	Chinese (China)	尼曼-匹克病 A+B 新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型: Synonyms: A 型 A,B 型;AB 型 Asympt B 型 Niemann Pick 病 A+B;Niemann-Pick 病 A+B SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型备注备注;评论;注解;说明;评语尼曼-匹克病 A+B 新生儿筛查注释/讨论意见文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验注解疾病症短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验血;血液解说解释评定评注评论评语说明

62316-5 Acid sphingomyelinase [Enzymatic activity/volume] in DBS

Part Descriptions

LP14035-7 Acid sphingomyelinase
Sphingomyelin phosphodiesterase or simply Sphingomyelinase (SMase) is a hydrolase enzyme that is involved in sphingolipid metabolism reactions. SMase is a member of the DNase I superfamily of enzymes and is responsible for breaking sphingomyelin (SM) down into phosphocholine and ceramide. The activation of SMase has been suggested as a major route for the production of ceramide in response to cellular stresses. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Wikipedia

Reference Information

Type	Source	Reference
Article	National Library of Medicine	Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Acid sphingomyelinase
Property: CCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Acid sphingomyelinase DBS-cCnc
Display Name: Acid sphingomyelinase (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info: Acid sphingomyelinase, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.34
Last Updated: Version 2.61
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-AT	German (Austria)	Synonyms: Sphingomyelinase /BT
es-ES	Spanish (Spain)	Esfingomielinasa ácida:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Esfingomielinasa ácida:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Sfingomüelinaas:CCnc:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA	French (Canada)	Sphingomyélinase acide:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Sphingomyélinase acide:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Sphingomyélinase acide:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Sfingomielinasi acida:CCnC:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	zure sfingomyelinase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR	Portuguese (Brazil)	Ácido esfingomielinase::Pt:SgPapel:Qn:
ru-RU	Russian (Russian Federation)	Кислая сфингомиелиназа:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR	Turkish (Turkey)	Asit sfingomiyelinaz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	神经磷脂酶:催化浓度:时间点:全血.斑点:定量型: Synonyms: A 型和 B 型 Niemann-Pick 病;A 型和 B 型尼曼-匹克病;Niemann-Pick 氏症;Niemann-Pick 病;Niemann-Pick 病 A 型和 B 型;尼曼-匹克病;尼曼-匹克病 A 型和 B 型;尼曼匹克症;神经鞘磷脂磷酸二酯酶;鞘磷脂磷酸二酯酶;鞘磷脂酶;鞘髓磷脂储积症催化浓度(单位体积);单位体积内酶的单位数全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液酸

Example Units

Unit	Source
umol/L/h	Example UCUM Units

63414-7 Pompe disease newborn screening panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Pompe disease newborn screening panel
Property: -
Time: Pt
System: Bld.dot
Scale: -
Method

Additional Names

Short Name: Pompe disease NBS pnl DBS
Display Name: Pompe disease NBS panel (DBS)
Consumer Name Alpha Get Info: Pompe Disease NBS Panel, Dried blood spot

Basic Attributes

Class: PANEL.CHEM
Type: Laboratory
First Released: Version 2.36
Last Updated: Version 2.77
Order vs. Observation: Order
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Panel screening de la enfermedad de Pompe en recien nacidos:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX	Spanish (Mexico)	Panel de cribado neonatal de la enfermedad de Pompe:-:Punto temporal:DBS:-:
fr-FR	French (France)	Maladie de Pompe dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT	Italian (Italy)	Morbo di Pompe, panel screening neonatale:-:Pt:Sangue.su carta da filtro:-: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per morbo di Pompe Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL	Dutch (Netherlands)	ziekte van Pompe pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
ru-RU	Russian (Russian Federation)	Помпе болезнь новорожденных скрининг панель:-:ТчкВрм:Кр.Сух.капл:-: Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN	Chinese (China)	庞贝病新生儿筛查组套:-:时间点:全血.斑点:-: Synonyms: Ⅱ型糖原累积病;glycogen storage disease typeⅡ;GSDⅡ;酸性麦芽糖酶缺乏症;Pompe病;属于常染色体隐性遗传性疾病,是由于酸性α-糖苷酶的缺乏,导致溶酶体内的糖原分解障碍并大量贮积而致病 Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类庞贝病新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;庞贝病新生儿筛查组合;II型糖原累积病新生儿筛查医嘱组;酸性麦芽糖酶缺乏症新生儿筛查医嘱组;Pompe 病新生儿筛查医嘱组;Ⅱ型糖原累积病;glycogen storage disease typeⅡ;GSDⅡ;酸性麦芽糖酶缺乏症;Pompe病;庞贝病;属于常染色体隐性遗传性疾病,是由于酸性α-糖苷酶的缺乏,导致溶酶体内的糖原分解障碍并大量贮积而致病新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验医嘱组合类检验项目医嘱组合类检验项目组合类疾病症筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验组组合组合医嘱组合类组套血;血液

63415-4 Pompe disease newborn screen interpretation

Observation Required in Panel

Required

Fully-Specified Name

Component: Pompe disease
Property: Imp
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: Pompe disease DBS-Imp
Display Name: Pompe disease (DBS) [Interp]
Consumer Name Alpha Get Info: Pompe disease, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.36
Last Updated: Version 2.56
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation

Preferred Answer List LL840-0

Answer	Code	Score	Answer ID
In range			LA18592-8
Borderline			LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)			LA11884-6
Out of range			LA18593-6
Out of range requiring further dried blood spot testing for at least one condition			LA12430-7
Out of range requiring immediate referral			LA25817-0
Out of range requiring immediate second-tier testing for at least one condition			LA12431-5
Out of range requiring deferred follow-up for at least one condition			LA18594-4
One or more tests pending			LA16204-2
Specimen unsatisfactory for at least one condition			LA16205-9

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Enfermedad de Pompe:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Enfermedad de Pompe:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Maladie de Pompe:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
it-IT	Italian (Italy)	Morbo di Pompe:Imp:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	ziekte van Pompe:interpretatie:moment:gedroogde bloedspot:nominaal:
ru-RU	Russian (Russian Federation)	Помпе болезнь:Впчт:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Pompe hastalığı:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	庞贝病:印象:时间点:全血.斑点:名义型: Synonyms: Ⅱ型糖原累积病;glycogen storage disease typeⅡ;GSDⅡ;酸性麦芽糖酶缺乏症;Pompe病;属于常染色体隐性遗传性疾病,是由于酸性α-糖苷酶的缺乏,导致溶酶体内的糖原分解障碍并大量贮积而致病全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释时刻;随机;随意;瞬间疾病症血;血液

Third Party Copyright

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This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

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63416-2 Pompe disease newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Pompe disease newborn screening comment-discussion
Property: Txt
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: Pompe disease NBS comment
Display Name: Pompe disease newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info: Pompe disease newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.36
Last Updated: Version 2.42
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Enfermedad de Pompe screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX	Spanish (Mexico)	Comentario-discusión del cribado neonatal de la enfermedad de Pompe:Texto:Punto temporal:DBS:Narrativo:
fr-FR	French (France)	Maladie de Pompe dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
it-IT	Italian (Italy)	Morbo di Pompe , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica Commento-discussione di screening neonatale per morbo di Pompe Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL	Dutch (Netherlands)	ziekte van Pompe screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
ru-RU	Russian (Russian Federation)	Помпе болезнь новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR	Turkish (Turkey)	Pompe hastalığı yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN	Chinese (China)	庞贝病新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型: Synonyms: Ⅱ型糖原累积病;glycogen storage disease typeⅡ;GSDⅡ;酸性麦芽糖酶缺乏症;Pompe病;属于常染色体隐性遗传性疾病,是由于酸性α-糖苷酶的缺乏,导致溶酶体内的糖原分解障碍并大量贮积而致病 Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型备注备注;评论;注解;说明;评语庞贝病新生儿筛查注释/讨论意见文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验注解疾病症短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验血;血液解说解释评定评注评论评语说明

55827-0 Acid alpha glucosidase [Enzymatic activity/volume] in DBS

Term Description

This is a newborn screening test to detect enzymatic activity in dried blood spot to screen for Pompe disease, which is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially in muscles, impairs their ability to function normally. Major features of Pompe disease include muscle weakness, heart abnormalities, and breathing problems. This disorder is caused by mutations in the GAA gene; it has an autosomal recessive pattern of inheritance.
Source: Regenstrief LOINC

Part Descriptions

LP14013-4 Acid alpha glucosidase
Alpha (A) glucosidase is an enzyme found in tissue fibroblasts that is useful for delineatig the reason for muscle wasting and ruling out Pompe's disease. Source: Regenstrief Institute

Reference Information

Type	Source	Reference
Article	National Library of Medicine	Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Acid alpha glucosidase
Property: CCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: Acid A-Glucosidase DBS-cCnc
Display Name: Acid alpha glucosidase (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info: Acid alpha glucosidase, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.70
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-AT	German (Austria)	Synonyms: Alpha-Glucosidase/BT
es-ES	Spanish (Spain)	Alfa glucoxidasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Alfa glucosidasa ácida:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
et-EE	Estonian (Estonia)	Alfaglükosidaas:CCnc:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA	French (Canada)	Alpha glucosidase acide:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Alpha glucosidase acide:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Alpha glucosidase acide:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Acido alfa glucosidasi:CCnC:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	zure alfa-glucosidase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pl-PL	Polish (Poland)	Kwaśna alfa-glukozydaza:stężenie katalityczne:punkt w czasie:sucha kropla krwi:ilościowy: Synonyms: Glukozydaza Kwaśna alfa-glukozydaza
pt-BR	Portuguese (Brazil)	Alfa glucosidase:#N/A:Pt:SgPapel:Qn: Synonyms: Glucoinvertase; Glucosidosucrase; Maltase; Maltase-glucoamylase; A-Glucosidase; Pompe disease; GAA; Alpha-1,4-glucosidase; Acid maltase; Catalytic Concentration; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Alfa; Chemistry
ru-RU	Russian (Russian Federation)	Кислая альфа глюкозидаза:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR	Turkish (Turkey)	Asit alfa glukozidaz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	Alpha 葡糖苷酶:催化浓度:时间点:全血.斑点:定量型: Synonyms: Alpha 葡萄糖苷酶;Alpha-1,4-葡糖苷酶;Alpha-1,4-葡萄糖苷酶;Alpha-葡糖苷酶;Alpha-葡萄糖苷酶;A-葡糖苷酶;A-葡萄糖苷酶;GAA;Pompe 氏病;Pompe 病;α-1,4-葡糖苷酶;α-1,4-葡萄糖苷酶;α葡糖苷酶;α-葡糖苷酶;α葡萄糖苷酶;α-葡萄糖苷酶;酸性麦牙糖酶;酸性麦芽糖酵素;酸性麦芽糖酶;麦牙糖酶;麦芽糖酵素;麦芽糖酶 α 催化浓度(单位体积);单位体积内酶的单位数全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间葡糖基蔗糖酶;葡萄糖苷酶;葡萄糖转化酶;麦牙糖酶;麦芽糖酶;麦芽糖酶-葡糖淀粉酶;麦芽糖酶-葡糖糖化酶血;血液酸阿尔法

Example Units

Unit	Source
umol/L/h	Example UCUM Units

62333-0 Severe combined immunodeficiency (SCID) newborn screening panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Severe combined immunodeficiency (SCID) newborn screening panel
Property: -
Time: Pt
System: Bld.dot
Scale: -
Method

Additional Names

Short Name: SCID NBS pnl DBS
Display Name: Severe combined immunodeficiency (SCID) NBS panel (DBS)
Consumer Name Alpha Get Info: Severe Combined Immunodeficiency (SCID) NBS Panel, Dried blood spot

Basic Attributes

Class: PANEL.CHEM
Type: Laboratory
First Released: Version 2.34
Last Updated: Version 2.77
Order vs. Observation: Order
Common Test Rank Get Info: 2081
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Cribado de Inmunodeficiencia combinada severa (SCID) en recién nacido:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX	Spanish (Mexico)	Panel de cribado neonatal de inmunodeficiencia combinada grave (SCID):-:Punto temporal:DBS:-:
fr-FR	French (France)	Immunodéficience sévère associée dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT	Italian (Italy)	Immunodeficienza combinata grave (SCID), panel screening neonatale:-:Pt:Sangue.su carta da filtro:-: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per immunodeficienza com Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL	Dutch (Netherlands)	ernstige gecombineerde immunodeficiëntie (SCID) pasgeborene screening panel:-:moment:gedroogde bloedspot:-: Synonyms: ernstige gecombineerde immunodeficientie ernstige gecombineerde immunodeficientie (SCID) pasgeborene screening panel
ru-RU	Russian (Russian Federation)	Тяжелый комбинированный иммунодефицит (ТКИД) новорождённых скрининга панель:-:ТчкВрм:Кр.Сух.капл:-: Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN	Chinese (China)	严重联合免疫缺陷 (SCID) 新生儿筛查组套:-:时间点:全血.斑点:-: Synonyms: Asympt SCN 严重联合免疫缺陷 (SCID) 新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;严重联合免疫缺陷 (SCID) 新生儿筛查组合;严重联合免疫缺陷病 (SCID) 新生儿筛查医嘱组;严重联合免疫缺陷;严重联合免疫缺陷病;Severe combined immunodeficiency;SCID 严重联合免疫缺陷病;Severe combined immunodeficiency;SCID 免疫机能缺陷;免疫缺乏;免疫缺陷病全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验医嘱组合类检验项目医嘱组合类检验项目组合类筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验组组合组合医嘱组合类组套血;血液

62321-5 Severe combined immunodeficiency newborn screen interpretation

Part Descriptions

LP111254-1 Severe combined immunodeficiency
Severe combined immunodeficiency (SCID), or Bubble Boy Syndrome, (also known as "Alymphocytosis," "Glanzmann-Riniker syndrome," "Severe mixed immunodeficiency syndrome," and "Thymic alymphoplasia" is a genetic disorder in which both "arms" (B cells and T cells) of the adaptive immune system are crippled, due to a defect in one of several possible genes. SCID is a severe form of heritable immunodeficiency. It is also known as the "bubble boy" disease because its victims are extremely vulnerable to infectious diseases and some of them, such as David Vetter, become famous for living in a sterile environment. SCID is the effect of a highly compromised, so much it is almost considered absent, immune system. The gene mutations that cause SCID are not just for the disorder. The buildup of dATP, which induces the cell to make cytochrome c, destroys and signals for apoptosis in all rapidly proliferating cells. This includes cells in the GI tract, immune system lymphocytes, and sperm cells.

Chronic diarrhoea, ear infections, recurrent Pneumocystis jirovecii pneumonia, and profuse oral candidiasis commonly occur. These babies, if untreated, usually die within 1 year due to severe, recurrent infections unless they have undergone successful Hematopoietic stem cell transplantation. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Wikipedia

Observation Required in Panel

Required

Fully-Specified Name

Component: Severe combined immunodeficiency
Property: Imp
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: SCID DBS-Imp
Display Name: Severe combined immunodeficiency (DBS) [Interp]
Consumer Name Alpha Get Info: Severe combined immunodeficiency, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.34
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to"Preferred" to fit the current LOINC model.
Order vs. Observation: Observation
Common Test Rank Get Info: 14230

Preferred Answer List LL840-0

Answer	Code	Score	Answer ID
In range			LA18592-8
Borderline			LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)			LA11884-6
Out of range			LA18593-6
Out of range requiring further dried blood spot testing for at least one condition			LA12430-7
Out of range requiring immediate referral			LA25817-0
Out of range requiring immediate second-tier testing for at least one condition			LA12431-5
Out of range requiring deferred follow-up for at least one condition			LA18594-4
One or more tests pending			LA16204-2
Specimen unsatisfactory for at least one condition			LA16205-9

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Inmunodeficiencia combinada severa:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Inmunodeficiencia combinada grave:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Immunodéficience sévère associée:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE	French (Belgium)	Immunodéficience combinée sévère:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Immunodeficienza combinata grave:Imp:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	ernstige gecombineerde immunodeficiëntie:interpretatie:moment:gedroogde bloedspot:nominaal: Synonyms: ernstige gecombineerde immunodeficientie
ru-RU	Russian (Russian Federation)	Тяжелый комбинированный иммунодефицит:Впчт:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Ciddi kombine immun bozukluk:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	严重联合免疫缺陷:印象:时间点:全血.斑点:名义型: Synonyms: 严重联合免疫缺陷病;Severe combined immunodeficiency;SCID 免疫机能缺陷;免疫缺乏;免疫缺陷病全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释时刻;随机;随意;瞬间血;血液

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

62322-3 Severe combined immunodeficiency newborn screening comment-discussion

Part Descriptions

LP111254-1 Severe combined immunodeficiency
Severe combined immunodeficiency (SCID), or Bubble Boy Syndrome, (also known as "Alymphocytosis," "Glanzmann-Riniker syndrome," "Severe mixed immunodeficiency syndrome," and "Thymic alymphoplasia" is a genetic disorder in which both "arms" (B cells and T cells) of the adaptive immune system are crippled, due to a defect in one of several possible genes. SCID is a severe form of heritable immunodeficiency. It is also known as the "bubble boy" disease because its victims are extremely vulnerable to infectious diseases and some of them, such as David Vetter, become famous for living in a sterile environment. SCID is the effect of a highly compromised, so much it is almost considered absent, immune system. The gene mutations that cause SCID are not just for the disorder. The buildup of dATP, which induces the cell to make cytochrome c, destroys and signals for apoptosis in all rapidly proliferating cells. This includes cells in the GI tract, immune system lymphocytes, and sperm cells.

Chronic diarrhoea, ear infections, recurrent Pneumocystis jirovecii pneumonia, and profuse oral candidiasis commonly occur. These babies, if untreated, usually die within 1 year due to severe, recurrent infections unless they have undergone successful Hematopoietic stem cell transplantation. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Wikipedia

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Severe combined immunodeficiency newborn screening comment-discussion
Property: Txt
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: SCID NBS comment
Display Name: Severe combined immunodeficiency newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info: Severe combined immunodeficiency newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.34
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 18235

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Inmunodeficiencia combinada severa screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX	Spanish (Mexico)	Comentario-discusión de cribado neonatal de inmunodeficiencia combinada grave:Texto:Punto temporal:DBS:Narrativo:
fr-FR	French (France)	Immunodéficience sévère associée dépistage néonatal (commentaire-discusssion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE	French (Belgium)	Immunodéficience combinée sévère Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT	Italian (Italy)	Immunodeficienza combinata grave , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica Commento-discussione di screening neonatale per immunodeficienza combinata grave Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL	Dutch (Netherlands)	ernstige gecombineerde immunodeficiëntie screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel: Synonyms: ernstige gecombineerde immunodeficientie
ru-RU	Russian (Russian Federation)	Тяжелый комбинированный иммунодефицит новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR	Turkish (Turkey)	Ciddi kombine immun bozukluk yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN	Chinese (China)	严重联合免疫缺陷新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型: Synonyms: Asympt SCN 严重联合免疫缺陷新生儿筛查注释/讨论严重联合免疫缺陷病;Severe combined immunodeficiency;SCID 免疫机能缺陷;免疫缺乏;免疫缺陷病全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型备注备注;评论;注解;说明;评语意见文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验注解短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验血;血液解说解释评定评注评论评语说明

62320-7 T-cell receptor excision circle [#/volume] in DBS by NAA with probe detection

Term Description

In newborn screening laboratories where dried blood spots (DBS) are the only available specimens, the test for T cell receptor excision circles (TREC) has been established as a reliable method in population-based pilot studies. TRECs are circular episomal DNA generated at the rearrangement of T cell antigen-receptor gene segments during maturation of T lymphocytes in the thymus. They are non-replicating byproducts that stay in the recent thymic emigrants in the peripheral blood. As such, they can serve as sensitive markers of T cell production in the newborn infant.
Source: Regenstrief LOINC

Part Descriptions

LP111251-7 T-cell receptor excision circle
T cell receptor excision circles (TRECs) are formed as a byproduct of T cell receptor (TCR) generation in the thymus. Every T cell has a unique TCR, and formation of TCRs involves DNA rearrangement into different combinations of variable, diversity, and joining sequences. As these combinations are created, the remaining fragments of excised DNA form circular structures, or TRECs. The number of TRECs is proportional to T cell production, with low TREC numbers being an indicator of inadequate T cell production. In newborns, dried blood spot TREC analysis is used to screen for severe combined immunodeficiency as well as other disorders associated with low T cell counts, such as DiGeorge syndrome, trisomy 21, CHARGE syndrome, and congenital leukemia. PMID: 25937517 Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: T-cell receptor excision circle
Property: NCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method: Probe.amp.tar

Additional Names

Short Name: TREC # DBS NAA+probe
Display Name: T-cell receptor excision circle NAA+probe (DBS) [#/Vol]
Consumer Name Alpha Get Info: T-cell receptor excision circle, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.34
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 11973

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Círculos de escisión del receptor de células T:Concentración de número:Punto temporal:gota de sangre (papel de filtro):Qn:Sonda con amplificación dirigida Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Círculo de escisión del receptor de células T:Concentración numérica:Punto temporal:DBS:Cuantitativo:Amplificación de ácidos nucleicos con detección de sonda
fr-FR	French (France)	Récepteur cellules T cercle d'excision:Nombre/Volume:Ponctuel:Sang buvard:Numérique:PCR amplification de cible
it-IT	Italian (Italy)	Linfocita T, circolo di escissione recettore:NCnc:Pt:Sangue.su carta da filtro:Qn:Sonda.amp.tar Synonyms: Chimica Circolo di escissione di recettore di linfocita T Concentrazione Numerica Linfocita T Punto nel tempo (episodio) Sangue Sonda con amplificazione Sonda con amplificazione del target Sonda di DNA Spot sangue secco
nl-NL	Dutch (Netherlands)	T-celreceptor excisiecirkel:aantal/volume:moment:gedroogde bloedspot:kwantitatief:probe-detectie Synonyms: probe.amp.tar
ru-RU	Russian (Russian Federation)	T-клеточного рецептора исключения круг:КолОб:ТчкВрм:Кр.Сух.капл:Колич:Проба.усил.миш Synonyms: ДНК проба;ДНК зонд Количественный Количество в объеме Кровь Кровь сухая капля Проба с мишени усилением Точка во времени;Момент
tr-TR	Turkish (Turkey)	T-hücresi reseptörü excision circle:SayKons:Zmlı:Kan.nokta:Kant:Prob.amf.hdf
zh-CN	Chinese (China)	T-细胞受体重排删除环:计数型浓度:时间点:全血.斑点:定量型:探针法.基因扩增.靶向 Synonyms: T 细胞;UCHL-1 T-細胞受體重排刪除環;T-細胞受體切除環;T-细胞受体重排删除环;T-细胞受体重排切割环;T-cell receptor excision circle;TREC;T cell receptor rearrangement excision circle 借助扩增的探针方法;借助扩增的探针法;探针法.扩增借助靶向扩增的探针方法;借助靶向扩增的探针法;探针法.扩增.靶向全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类单位体积内的数量或计数;数量型浓度(单位体积);数量或计数型浓度(计数/体积);数量或计数型浓度(单位体积);计数型浓度(单位体积) 可用数量表示的;定量性;数值型;数量型;连续数值型标尺扩增型扩增性数量型浓度探针法.基因扩增.靶向数量型浓度探针法.扩增.靶向数量或计数型浓度探针法.扩增.靶向时刻;随机;随意;瞬间病毒负荷病毒负荷量病毒负载病毒载量病毒载量（Viral load）经过扩增的脱氧核糖核酸探针血;血液计数型浓度探针法.基因扩增.靶向计数型浓度探针法.扩增.靶向

Example Units

Unit	Source
{copies}	Example UCUM Units

92006-6 T-cell receptor excision circle [Cycle Threshold #] in DBS

Part Descriptions

LP111251-7 T-cell receptor excision circle
T cell receptor excision circles (TRECs) are formed as a byproduct of T cell receptor (TCR) generation in the thymus. Every T cell has a unique TCR, and formation of TCRs involves DNA rearrangement into different combinations of variable, diversity, and joining sequences. As these combinations are created, the remaining fragments of excised DNA form circular structures, or TRECs. The number of TRECs is proportional to T cell production, with low TREC numbers being an indicator of inadequate T cell production. In newborns, dried blood spot TREC analysis is used to screen for severe combined immunodeficiency as well as other disorders associated with low T cell counts, such as DiGeorge syndrome, trisomy 21, CHARGE syndrome, and congenital leukemia. PMID: 25937517 Source: Regenstrief LOINC

Fully-Specified Name

Component: T-cell receptor excision circle
Property: ThreshNum
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: TREC ThreshNum DBS Qn
Display Name: T-cell receptor excision circle (DBS) [ThreshNum]
Consumer Name Alpha Get Info: T-cell receptor excision circle, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.66
Last Updated: Version 2.66
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Círculo de escisión del receptor de células T:ThreshNum:Punto temporal:DBS:Cuantitativo:
es-ES	Spanish (Spain)	Círculos de escisión del receptor de células T:ThreshNnum:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
fr-FR	French (France)	Récepteur cellules T cercle d'excision:Cycle seuil:Ponctuel:Sang buvard:Numérique:
it-IT	Italian (Italy)	Linfocita T, circolo di escissione recettore:Thresnum:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Circolo di escissione di recettore di linfocita T Limite di soglia Linfocita T Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	T-celreceptor excisiecirkel:drempelwaarde nummer:moment:gedroogde bloedspot:kwantitatief:
tr-TR	Turkish (Turkey)	T-hücresi reseptörü excision circle:EşikDeğ:Zmlı:Kan.nokta:Kant: Synonyms: Eşik Değer
zh-CN	Chinese (China)	T-细胞受体重排删除环:阈值循环圈数:时间点:全血.斑点:定量型: Synonyms: T 细胞;UCHL-1 T-細胞受體重排刪除環;T-細胞受體切除環;T-细胞受体重排删除环;T-细胞受体重排切割环;T-cell receptor excision circle;TREC;T cell receptor rearrangement excision circle 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间界值数;界限数;阀值数;临界值数;阈值循环数;阈值数;达到阈值时的循环圈数;荧光信号到达设定阈值时所经历的循环数;Ct 值;Cycle threshold;循环阈值血;血液

Example Units

Unit	Source
{Ct_value}	Example UCUM Units

92007-4 T-cell receptor excision circle [Z-score] in DBS

Part Descriptions

LP111251-7 T-cell receptor excision circle
T cell receptor excision circles (TRECs) are formed as a byproduct of T cell receptor (TCR) generation in the thymus. Every T cell has a unique TCR, and formation of TCRs involves DNA rearrangement into different combinations of variable, diversity, and joining sequences. As these combinations are created, the remaining fragments of excised DNA form circular structures, or TRECs. The number of TRECs is proportional to T cell production, with low TREC numbers being an indicator of inadequate T cell production. In newborns, dried blood spot TREC analysis is used to screen for severe combined immunodeficiency as well as other disorders associated with low T cell counts, such as DiGeorge syndrome, trisomy 21, CHARGE syndrome, and congenital leukemia. PMID: 25937517 Source: Regenstrief LOINC

Fully-Specified Name

Component: T-cell receptor excision circle
Property: Zscore
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: TREC Z-score DBS
Display Name: T-cell receptor excision circle (DBS) [Z-score]
Consumer Name Alpha Get Info: T-cell receptor excision circle, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.66
Last Updated: Version 2.66
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Círculo de escisión del receptor de células T:Puntuación Z:Punto temporal:DBS:Cuantitativo:
es-ES	Spanish (Spain)	Círculos de escisión del receptor de células T:Puntuación Z:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
fr-FR	French (France)	Récepteur cellules T cercle d'excision:Z score:Ponctuel:Sang buvard:Numérique:
it-IT	Italian (Italy)	Linfocita T, circolo di escissione recettore:Zscore:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Circolo di escissione di recettore di linfocita T Linfocita T Punto nel tempo (episodio) Sangue Spot sangue secco Z-score
nl-NL	Dutch (Netherlands)	T-celreceptor excisiecirkel:Z-score:moment:gedroogde bloedspot:kwantitatief:
ru-RU	Russian (Russian Federation)	T-клеточного рецептора исключения круг:Z-тест:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Z-тест Фишера Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR	Turkish (Turkey)	T-hücresi reseptörü excision circle:Zskoru:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	T-细胞受体重排删除环:Z评分:时间点:全血.斑点:定量型: Synonyms: T 细胞;UCHL-1 T-細胞受體重排刪除環;T-細胞受體切除環;T-细胞受体重排删除环;T-细胞受体重排切割环;T-cell receptor excision circle;TREC;T cell receptor rearrangement excision circle Z分;Z分值;Z分数;Z得分;Z-评分;Z评分（分值、得分、分数）全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
{Zscore}	Example UCUM Units

92008-2 T-cell receptor excision circle [Multiple of the median] in DBS

Part Descriptions

LP111251-7 T-cell receptor excision circle
T cell receptor excision circles (TRECs) are formed as a byproduct of T cell receptor (TCR) generation in the thymus. Every T cell has a unique TCR, and formation of TCRs involves DNA rearrangement into different combinations of variable, diversity, and joining sequences. As these combinations are created, the remaining fragments of excised DNA form circular structures, or TRECs. The number of TRECs is proportional to T cell production, with low TREC numbers being an indicator of inadequate T cell production. In newborns, dried blood spot TREC analysis is used to screen for severe combined immunodeficiency as well as other disorders associated with low T cell counts, such as DiGeorge syndrome, trisomy 21, CHARGE syndrome, and congenital leukemia. PMID: 25937517 Source: Regenstrief LOINC

Fully-Specified Name

Component: T-cell receptor excision circle
Property: MoM
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: TREC MoM DBS
Display Name: T-cell receptor excision circle (DBS) [MoM]
Consumer Name Alpha Get Info: T-cell receptor excision circle, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.66
Last Updated: Version 2.66
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Círculo de escisión del receptor de células T:Múltiplo de la mediana:Punto temporal:DBS:Cuantitativo:
es-ES	Spanish (Spain)	Círculos de escisión del receptor de células T:MoM:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
fr-FR	French (France)	Récepteur cellules T cercle d'excision:Multiple de la médiane:Ponctuel:Sang buvard:Numérique:
it-IT	Italian (Italy)	Linfocita T, circolo di escissione recettore:MoM:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Circolo di escissione di recettore di linfocita T Linfocita T Multipli della mediana Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	T-celreceptor excisiecirkel:veelvoud van de mediaan:moment:gedroogde bloedspot:kwantitatief: Synonyms: MoM
ru-RU	Russian (Russian Federation)	T-клеточного рецептора исключения круг:КратМед:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Количественный Кратность по отношению к среднему уровню Кровь Кровь сухая капля Точка во времени;Момент
tr-TR	Turkish (Turkey)	T-hücresi reseptörü excision circle:MoM:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	T-细胞受体重排删除环:中位数的倍数:时间点:全血.斑点:定量型: Synonyms: MoM;中位数之倍数;中位数倍数;Multiple of the Median T 细胞;UCHL-1 T-細胞受體重排刪除環;T-細胞受體切除環;T-细胞受体重排删除环;T-细胞受体重排切割环;T-cell receptor excision circle;TREC;T cell receptor rearrangement excision circle 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液

Example Units

Unit	Source
{M.o.M}	Example UCUM Units

92005-8 Spinal muscular atrophy newborn screening panel

Fully-Specified Name

Component: Spinal muscular atrophy newborn screening panel
Property: -
Time: Pt
System: Bld.dot
Scale: -
Method

Additional Names

Short Name: SMA NB scn pnl DBS
Display Name: Spinal muscular atrophy newborn screening panel (DBS)
Consumer Name Alpha Get Info: Spinal muscular atrophy newborn screening panel, Dried blood spot

Basic Attributes

Class: PANEL.MOLPATH
Type: Laboratory
First Released: Version 2.66
Last Updated: Version 2.70
Order vs. Observation: Order
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Panel de detección de atrofia muscular espinal en recién nacidos:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX	Spanish (Mexico)	Panel de detección de recién nacidos de atrofia muscular espinal:-:Punto temporal:DBS:-:
fr-FR	French (France)	Atrophie musculaire spinale Dépistage néonatale panel:-:Ponctuel:Sang buvard:-:
it-IT	Italian (Italy)	Atrofia muscolare spinale, panel screening neonato:-:Pt:Sangue.su carta da filtro:-: Synonyms: Panel screening neonatale Panel screening neonato di atrofia muscolare spinale Patologia molecolare Punto nel tempo (episodio) Sangue Set di prescrizione patologia molecolare SMA Spot sangue secco
zh-CN	Chinese (China)	脊髓性肌萎缩新生儿筛查组套:-:时间点:全血.斑点:-: Synonyms: Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分子病理学;分子病理学试验医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.分子病理学;分子病理学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;分子病理学医嘱组类;医嘱组类.分子病理学;实验室医嘱组类.分子病理学医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验医嘱组合类检验项目医嘱组合类检验项目组合类筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验组组合组合医嘱组合类组套脊髓性肌肉萎缩症;脊髓性肌萎缩症;脊髓肌肉萎缩症脊髓性肌萎缩新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）血;血液

92004-1 Spinal muscular atrophy newborn screen interpretation

Fully-Specified Name

Component: Spinal muscular atrophy
Property: Imp
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: SMA DBS-Imp
Display Name: Spinal muscular atrophy (DBS) [Interp]
Consumer Name Alpha Get Info: Spinal muscular atrophy, Dried blood spot

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.66
Last Updated: Version 2.66
Order vs. Observation: Observation

Preferred Answer List LL840-0

Answer	Code	Score	Answer ID
In range			LA18592-8
Borderline			LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)			LA11884-6
Out of range			LA18593-6
Out of range requiring further dried blood spot testing for at least one condition			LA12430-7
Out of range requiring immediate referral			LA25817-0
Out of range requiring immediate second-tier testing for at least one condition			LA12431-5
Out of range requiring deferred follow-up for at least one condition			LA18594-4
One or more tests pending			LA16204-2
Specimen unsatisfactory for at least one condition			LA16205-9

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Atrofia muscular en la columna:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Atrofia muscular en la columna:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Atrophie musculaire spinale:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
it-IT	Italian (Italy)	Atrofia muscolare spinale:Imp:Pt:Sangue.su carta da filtro:Nom: Synonyms: Impressione/interpretazione di studio Patologia molecolare Punto nel tempo (episodio) Sangue SMA Spot sangue secco
zh-CN	Chinese (China)	脊髓性肌萎缩:印象:时间点:全血.斑点:名义型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分子病理学;分子病理学试验分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释时刻;随机;随意;瞬间脊髓性肌肉萎缩症;脊髓性肌萎缩症;脊髓肌肉萎缩症血;血液

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

92003-3 Spinal muscular atrophy newborn screening comment-discussion

Fully-Specified Name

Component: Spinal muscular atrophy newborn screening comment-discussion
Property: Txt
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: SMA NBS comment
Display Name: Spinal muscular atrophy newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info: Spinal muscular atrophy newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.66
Last Updated: Version 2.66
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Atrofia muscular en la columna screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX	Spanish (Mexico)	Atrofia muscular espinal cribado neonatal comentario-discusión:Texto:Punto temporal:DBS:Narrativo:
fr-FR	French (France)	Atrophie musculaire spinale Dépistage néonatale (commentaire-discusssion):Texte:Ponctuel:Sang buvard:Résultat textuel:
it-IT	Italian (Italy)	Atrofia muscolare spinale , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar: Synonyms: Patologia molecolare Punto nel tempo (episodio) Sangue SMA Spot sangue secco Testo
zh-CN	Chinese (China)	脊髓性肌萎缩新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型: Synonyms: Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分子病理学;分子病理学试验叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型备注备注;评论;注解;说明;评语意见文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验注解短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验脊髓性肌肉萎缩症;脊髓性肌萎缩症;脊髓肌肉萎缩症血;血液解说解释评定评注评论评语说明

92002-5 SMN1 gene [Cycle Threshold #] in DBS by NAA with probe detection

Term Description

The number of cycles at which the SNM1 gene was detected using real-time PCR. If the maximum number of cycles is reached without detection of the gene, this indicates the absence of SNM1 and requires follow-up evaluation for spinal muscular atrophy (SMA).
Source: Regenstrief LOINC

Part Descriptions

LP33177-4 SMN1 gene
The SMN1 gene (survival of motor neuron 1, telomeric) [HGNC Gene ID:11117] is located on chromosome 5q13.2. This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014] [NCBI Gene ID:6606] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component: SMN1 gene
Property: ThreshNum
Time: Pt
System: Bld.dot
Scale: Qn
Method: Probe.amp.tar

Additional Names

Short Name: SMN1 gene Ct DBS Qn NAA+probe
Display Name: SMN1 gene NAA+probe (DBS) [ThreshNum]
Consumer Name Alpha Get Info: SMN1 gene, Dried blood spot

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.66
Last Updated: Version 2.66
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Gen SMN1:ThreshNum:Punto temporal:DBS:Cuantitativo:Amplificación de ácidos nucleicos con detección de sonda
es-ES	Spanish (Spain)	Gen SMN1:ThreshNnum:Punto temporal:gota de sangre (papel de filtro):Qn:Sonda con amplificación dirigida Synonyms: Cuantitativo
fr-FR	French (France)	SMN1 gène:Cycle seuil:Ponctuel:Sang buvard:Numérique:PCR amplification de cible
it-IT	Italian (Italy)	SMN1, gene:Thresnum:Pt:Sangue.su carta da filtro:Qn:Sonda.amp.tar Synonyms: Gene SMN1 Limite di soglia Patologia molecolare Punto nel tempo (episodio) Sangue Sonda con amplificazione Sonda con amplificazione del target Sonda di DNA Spot sangue secco
nl-NL	Dutch (Netherlands)	SMN1-gen:drempelwaarde nummer:moment:gedroogde bloedspot:kwantitatief:probe-detectie Synonyms: probe.amp.tar SMN1 gen
tr-TR	Turkish (Turkey)	SMN1 geni:EşikDeğ:Zmlı:Kan.nokta:Kant:Prob.amf.hdf Synonyms: Eşik Değer
zh-CN	Chinese (China)	SMN1 基因:阈值循环圈数:时间点:全血.斑点:定量型:探针法.基因扩增.靶向 Synonyms: BCD541;Gemin 1;Kugelberg-Welander 病;SMA1;SMA2;SMA3;SMN;SMN 蛋白基因;SMV;Werdnig-Hoffmann 病;少年型家族性进行性脊肌萎缩症;少年型脊肌萎缩症;脊肌萎缩症;运动神经元存活蛋白基因;运动神经元生存蛋白基因借助扩增的探针方法;借助扩增的探针法;探针法.扩增借助靶向扩增的探针方法;借助靶向扩增的探针法;探针法.扩增.靶向全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分子病理学;分子病理学试验可用数量表示的;定量性;数值型;数量型;连续数值型标尺扩增型扩增性时刻;随机;随意;瞬间界值数;界限数;阀值数;临界值数;阈值循环数;阈值数;达到阈值时的循环圈数;荧光信号到达设定阈值时所经历的循环数;Ct 值;Cycle threshold;循环阈值经过扩增的脱氧核糖核酸探针血;血液遗传基因;遗传因子;吉恩;生物基因

Example Units

Unit	Source
{Ct_value}	Example UCUM Units

97654-8 SMN2 gene copy number in Blood or Tissue by Molecular genetics method

Term Description

The SMN2 copy number varies from 0 to 3 copies in the population, with about 10-15% of unaffected individuals having no SMN2 gene. The SMN2 copy number does not impact the carrier status but rather influences severity of disease in patients with spinal muscular atrophy (SMA), where the presence of more copies is associated with milder disease. PMID: 21673580
Source: Regenstrief LOINC

Part Descriptions

LP426531-2 SMN2 gene copy number
The SMN2 gene (survival of motor neuron 2, centromeric) [HGNC Gene ID:11118] is located on chromosome 5q13.2. This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease. This gene may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The full length protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Four transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Sep 2008] [NCBI Gene ID:6607] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component: SMN2 gene copy number
Property: EntNum
Time: Pt
System: Bld/Tiss
Scale: Qn
Method: Molgen

Additional Names

Short Name: SMN2 copy num EntNum Bld/T
Display Name: SMN2 copy num Molgen (Bld/Tiss) [Entitic number]
Consumer Name Alpha Get Info: SMN2 copy number, Blood or tissue specimen

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.70
Last Updated: Version 2.72
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Número de copias del gen SMN2:Número entítico:Punto temporal:Sangre o tejido:Qn:Genética molecular Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Número de copia del gen SMN2:EntNum:Punto temporal:Bld / Tiss:Cuantitativo:Molgen
fr-FR	French (France)	SMN2 gène - Nombre de copie:Nombre/entité:Ponctuel:Sang/Tissu:Numérique:Biologie moléculaire
it-IT	Italian (Italy)	Gene SMN2, numero copia:EntNum:Pt:Sangue/Tess:Qn:Molgen Synonyms: Gene SMN2 Genetica molecolare Numero copia di gene SMN2 Numero entitico Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL	Dutch (Netherlands)	aantal kopieën van SMN2-gen:aantal/eenheid:moment:bloed of weefsel:kwantitatief:moleculair genetisch onderzoek Synonyms: molgen SMN2 gen
zh-CN	Chinese (China)	SMN2 基因拷贝数:实体数量:时间点:全血/组织:定量型:分子遗传学类实验室方法 Synonyms: BCD541;SMN;SMNC;SMNT;着丝粒运动神经元生存基因;运动神经元生存 2, 着丝点;运动神经元生存 2, 着丝点性;运动神经元生存 2, 着丝粒;运动神经元生存 2, 着丝粒性;运动神经元生存基因 2 SMN2 基因拷贝（副本）数（数量、计数）个数;数目全血或组织;血液/组织;血液或组织分子病理学;分子病理学试验分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应可用数量表示的;定量性;数值型;数量型;连续数值型标尺实体计数时刻;随机;随意;瞬间未作说明的组织;组织;组织 & 涂片血;血液遗传基因;遗传因子;吉恩;生物基因

Example Units

Unit	Source
{#}	Example UCUM Units

85267-3 X-linked adrenoleukodystrophy (X-ALD) newborn screening panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component: X-linked adrenoleukodystrophy (X-ALD) newborn screening panel
Property: -
Time: Pt
System: Bld.dot
Scale: -
Method

Additional Names

Short Name: X-ALD NBS Pnl DBS
Display Name: X-linked adrenoleukodystrophy (X-ALD) NBS panel (DBS)
Consumer Name Alpha Get Info: X-linked Adrenoleukodystrophy (X-ALD) NBS Panel, Dried blood spot

Basic Attributes

Class: PANEL.CHEM
Type: Laboratory
First Released: Version 2.58
Last Updated: Version 2.77
Order vs. Observation: Order
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Panel de cribado en recién nacidos para adrenoleucodistrofia ligada al crosoma X:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX	Spanish (Mexico)	Panel de cribado neonatal de adrenoleucodistrofia ligada al cromosoma X (X-ALD):-:Punto temporal:DBS:-:
fr-FR	French (France)	Adrénoleucodystrophie liée à l'X dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT	Italian (Italy)	Adrenoleucodistrofia legata all'X (X-ALD), panel screening neonatale:-:Pt:Sangue.su carta da filtro:-: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per adrenoleucodistrofia Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
zh-CN	Chinese (China)	X连锁肾上腺脑白质营养不良新生儿筛查组套:-:时间点:全血.斑点:-: Synonyms: Asympt SCN X染色体连锁肾上腺脑白质营养不良;X-连锁肾上腺脑白质营养不良;X-ALD;ALD X连锁肾上腺脑白质营养不良新生儿（NB）（X染色体连锁肾上腺脑白质营养不良、X-连锁肾上腺脑白质营养不良、X-ALD、ALD）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验医嘱组合类检验项目医嘱组合类检验项目组合类筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验组组合组合医嘱组合类组套血;血液

85269-9 X-linked adrenoleukodystrophy newborn screen interpretation

Observation Required in Panel

Conditional

Fully-Specified Name

Component: X-linked adrenoleukodystrophy
Property: Imp
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: X-ALD DBS-Imp
Display Name: X-linked adrenoleukodystrophy (DBS) [Interp]
Consumer Name Alpha Get Info: X-linked adrenoleukodystrophy, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.58
Last Updated: Version 2.58
Order vs. Observation: Observation

Preferred Answer List LL840-0

Answer	Code	Score	Answer ID
In range			LA18592-8
Borderline			LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)			LA11884-6
Out of range			LA18593-6
Out of range requiring further dried blood spot testing for at least one condition			LA12430-7
Out of range requiring immediate referral			LA25817-0
Out of range requiring immediate second-tier testing for at least one condition			LA12431-5
Out of range requiring deferred follow-up for at least one condition			LA18594-4
One or more tests pending			LA16204-2
Specimen unsatisfactory for at least one condition			LA16205-9

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Adrenoleucodistrofia ligada al crosoma X:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Adrenoleucodistrofia ligada al cromosoma X:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Adrénoleucodystrophie liée à l'X:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
it-IT	Italian (Italy)	Adrenoleucodistrofia legata all'X:Imp:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
zh-CN	Chinese (China)	X连锁肾上腺脑白质营养不良:印象:时间点:全血.斑点:名义型: Synonyms: X染色体连锁肾上腺脑白质营养不良;X-连锁肾上腺脑白质营养不良;X-ALD;ALD 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释时刻;随机;随意;瞬间血;血液

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

85268-1 X-linked adrenoleukodystrophy newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

Component: X-linked adrenoleukodystrophy newborn screening comment-discussion
Property: Txt
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: X-ALD NBS comment
Display Name: X-linked adrenoleukodystrophy newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info: X-linked adrenoleukodystrophy newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.58
Last Updated: Version 2.58
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Adrenoleucodistrofia ligada al crosoma X screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX	Spanish (Mexico)	Adrenoleucodistrofia ligada al cromosoma X examen de detección de recién nacidos comentario-discusión:Texto:Punto temporal:DBS:Narrativo:
fr-FR	French (France)	Adrénoleucodystrophie liée à l'X dépistage néonatal (commentaire-discusssion):Texte:Ponctuel:Sang buvard:Résultat textuel:
it-IT	Italian (Italy)	Adrenoleucodistrofia legata all'X , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica Punto nel tempo (episodio) Sangue Spot sangue secco Testo
zh-CN	Chinese (China)	X连锁肾上腺脑白质营养不良新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型: Synonyms: Asympt SCN X染色体连锁肾上腺脑白质营养不良;X-连锁肾上腺脑白质营养不良;X-ALD;ALD 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型备注备注;评论;注解;说明;评语意见文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验注解短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验血;血液解说解释评定评注评论评语说明

79321-6 Lysophosphatidylcholine(26:0) [Moles/volume] in DBS

Part Descriptions

LP200432-5 Lysophosphatidylcholine(26:0)
Lysophosphatidylcholine(26:0), or LysoPC(26:0), is a lysophospholipid (LyP) and diagnostic marker for X-linked adrenoleukodystrophy (X-ALD), peroxisomal biogenesis disorders (PBD) and single enzyme defects (SED) of peroxisomal fatty acid oxidation. PMID: 19423374 For newborn screening, 26:0 lyso-PC is measured in dried blood spots (DBS) for the diagnosis, monitoring and treatment of X-ALD other peroxisomal disorders. Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component: Lysophosphatidylcholine(26:0)
Property: SCnc
Time: Pt
System: Bld.dot
Scale: Qn
Method

Additional Names

Short Name: LysoPC(26:0) DBS-sCnc
Display Name: LysoPC(26:0) (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: LysoPC(26:0), Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.54
Last Updated: Version 2.67
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Member of these Groups Get Info

LOINC Group	Group Name
LG50129-2	Lysophosphatidylcholine(26:0)\|Pt\|Bld.dot\|635.908 g/mole
LG30563-7	Lysophosphatidylcholine(26:0)\|SCnc\|Pt\|Bld.dot

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Lisofosfatidilcolina (26:0):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Lisofosfatidilcolina (26:0):Concentración de sustancias:Punto temporal:DBS:Cuantitativo
fr-FR	French (France)	Lysophosphatidylcholine(26:0):Moles/Volume:Ponctuel:Sang buvard:Numérique:
it-IT	Italian (Italy)	Lisofosfatidilcolina(26:0):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	lysofosfatidylcholine(26:0):mol/volume:moment:gedroogde bloedspot:kwantitatief:
tr-TR	Turkish (Turkey)	Lizofosfatidilkolin(26:0):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	溶血磷脂酰胆碱(26:0):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间溶血磷脂胆碱(26:0);溶血卵磷脂(26:0);溶血性磷脂酰胆碱(26:0) 血;血液

Example Units

Unit	Source
umol/L	Example UCUM Units

57128-1 Newborn Screening Report summary panel

Term Description

This panel includes a LOINC code that could carry a summary report as text , or PDF , the overall interpretation of the report to permit easy searching for abnormal , a list of the conditions suspected based on the marker results as codes - to make it easy for receiving systems to find cases requiring follow up.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Newborn Screening Report summary panel
Property: -
Time: Pt
System: ^Patient
Scale: -
Method

Additional Names

Short Name: NBS report summary pnl Patient
Display Name: NBS Report summary panel
Consumer Name Alpha Get Info: NBS report summary panel

Basic Attributes

Class: PANEL.CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.77
Order vs. Observation: Order
Common Test Rank Get Info: 9088
Panel Type: Organizer

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Resumen de Informe del panel de cribado del recién nacido:Propiedades mixtas (sólo paneles):Punto temporal:^paciente:-:
es-MX	Spanish (Mexico)	Panel de resumen del informe de detección del recién nacido:-:Punto temporal:^ Paciente:-:
fr-BE	French (Belgium)	Rapport screening néonatal.Panel résumé:-:Temps ponctuel:^Patient:-:
fr-FR	French (France)	Dépistage néonatal - Résumé du compte rendu panel:-:Ponctuel:Patient:-:
it-IT	Italian (Italy)	Screening neonatale, panel riassuntivo di referto:-:Pt:^Paziente:-: Synonyms: Chimica Panel riassuntivo di referto di screening neonatal paziente Punto nel tempo (episodio) Referto Set di prescrizione chimica
nl-NL	Dutch (Netherlands)	pasgeborene screening rapport samenvattend panel:-:moment:^patiënt:-:
pt-BR	Portuguese (Brazil)	Resumo de relatório da triagem Neonatal painel:#N/A:Pt:^Paciente:-: Synonyms: ; NBS report summary pnl; Point in time; Random; SCN; Asymptomatic; Asympt; Pnl; Pan; Panl; New born; PANEL.CHEMISTRY; PANEL.CHEMISTRY; Chemistry
ru-RU	Russian (Russian Federation)	Новорождённый Скрининг Отчёт краткие сведения панель:-:ТчкВрм:^Пациент:-: Synonyms: Точка во времени;Момент
zh-CN	Chinese (China)	新生儿筛查报告摘要组套:-:时间点:^患者:-: Synonyms: Asympt SCN 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类医疗服务对象;客户;病人;病患;病号;超系统 - 病人多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类报道;汇报;调查报告;报表;报导新生儿筛查报告摘要组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;新生儿筛查报告摘要组套;新生儿筛查报告摘要组合无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验医嘱组合类检验项目医嘱组合类检验项目组合类筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验组组合组合医嘱组合类组套

57721-3 Reason for lab test in Dried blood spot

Term Description

Definitions of answer codes for reason for newborn screen lab test in dried blood spot:

Initial Screen: This answer code is used for the first screen performed on an infant after birth. When the first specimen obtained is of unacceptable quality and cannot be used, a replacement specimen is still considered the initial screen. When an initial screen is performed before 24 hrs because of a planned transfusion or an extremely ill infant, it is still considered the initial screen even though it may need to be repeated later.

Subsequent screen - required by law: This answer code is used for mandatory second screens as required by law and assumes that the first screen was normal and that the second screen was performed only because it was mandated by law. For example, [give name of state(s)] currently performs a second screen on every infant born in the state at a particular point in time, such as between 1 and 2 weeks. The purpose of identifying the reason for a subsequent screen is that it will change the expected time interval when the subsequent screen should be performed.

Subsequent screen - required by protocol: This answer code is used for subsequent screens that are performed because of clinical conditions in the newborn that require a repeat screen as specified by a protocol to assure valid test results. Many of these subsequent screens have abnormal or out-of-range results on the initial screen that can be explained by the clinical condition of the infant. Typical examples include premature infants, infants who receive blood product transfusions, and infants who are receiving intravenous alimentation. This category should not include abnormal tests that should be considered presumptive positives (which would require a diagnostic evaluation rather than a repeat screen by protocol). The purpose of identifying the reason for a subsequent screen is that it will change the expected time interval when the subsequent screen should be performed.

Subsequent screen - for clarification of initial results (not by law or protocol): When the results of the initial screen are abnormal or out of range, many states perform an "immediate" repeat screen to confirm the results before considering the test a presumptive positive that will require a diagnostic evaluation. Many of these results may be considered or reported as equivocal or borderline until a clear abnormality is confirmed on the subsequent screen. This category does not include abnormal or borderline results for which there is a clear clinical explanation, such as prematurity, for which there is a clear protocol for obtaining a second screen. The purpose of identifying the reason for a subsequent screen is that it will change the expected time interval when the subsequent screen should be performed.

Subsequent screen - reason unknown: The purpose of identifying the reason for a subsequent screen is that it will change the expected time interval when the subsequent screen should be performed. States should use this answer code if they are unable to identify the specific reason for a subsequent screen, but they are able to separate initial screens from subsequent screens. The reason for the second screen might be any of the above. A repeat initial screen because the first specimen was of unacceptable quality should not be considered a subsequent screen, but some states may use this code if they are unable to track that the reason for a second specimen was unacceptable quality of the first screen.

No sample collected due to parental refusal: This answer code is used to document parental refusal of newborn screening so that a report can be generated which will contain no test results because no specimen was submitted. This will enable complete matching of newborn screening results to all infants born even if no laboratory testing was performed.
Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component: Reason for lab test
Property: Type
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: Reason for lab test DBS
Display Name: Reason for lab test Nom (DBS)
Consumer Name Alpha Get Info: Reason for lab test, Dried blood spot

Basic Attributes

Class: MISC
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 13935

Normative Answer List LL831-9

Answer	Code	Score	Answer ID
Initial screen			LA12421-6
Subsequent screen - required by law			LA12425-7
Subsequent screen - required by protocol			LA12426-5
Subsequent screen - for clarification of initial results (not by law or protocol)			LA12427-3
Subsequent screen - reason unknown			LA16473-3
No sample collected due to parental refusal			LA14132-7

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Motivo de la prueba de laboratorio:Tipo:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Razón de la prueba de laboratorio:Tipo:Punto temporal:DBS:Nominal:
fr-CA	French (Canada)	Indication de l'examen de laboratoire:Type:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-FR	French (France)	Motif du test en laboratoire:Type:Ponctuel:Sang buvard:Résultat nominal:
fr-BE	French (Belgium)	Justification des tests de labo:Type:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Motivo di prova di laboratorio:Tipo:Pt:Sangue.su carta da filtro:Nom: Synonyms: Miscellanea Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	reden voor labtest:type:moment:gedroogde bloedspot:nominaal:
pt-BR	Portuguese (Brazil)	Razão para teste de laboratório:Tipo:Pt:SgPapel:Nom: Synonyms: Typ; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal
ru-RU	Russian (Russian Federation)	Причина лабораторный тест:Тип:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Sebep lab testi için:Tip:Zmlı:Kan.nokta:Snf: Synonyms: Tür
zh-CN	Chinese (China)	关于实验室检验项目的原因:类型:时间点:全血.斑点:名义型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 关于实验室检验项目的理由;关于检验项目的原因;关于化验项目的原因;关于试验项目的原因分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答型时刻;随机;随意;瞬间杂项;杂项类;杂项试验血;血液

57718-9 Sample quality of Dried blood spot

Observation Required in Panel

Required

Fully-Specified Name

Component: Sample condition
Property: Type
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: Sample quality of DBS
Display Name: Sample condition Nom (DBS)
Consumer Name Alpha Get Info: Sample condition, Dried blood spot

Basic Attributes

Class: SPEC
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation
Common Test Rank Get Info: 18177

Preferred Answer List LL832-7

Answer	Code	Score	Answer ID
Acceptable			LA12432-3
No sample received			LA12433-1
Specimen damaged during transport			LA20623-7
Specimen received in sealed plastic container			LA20624-5
Specimen quantity insufficient due to incomplete saturation (blood did not soak through paper) Copyright http://snomed.info/sct ID:281268007 Insufficient sample (finding)			LA20625-2
Specimen quantity insufficient because blood did not completely fill specimen circles Copyright http://snomed.info/sct ID:281268007 Insufficient sample (finding)			LA20626-0
Specimen has uneven saturation			LA20627-8
Specimen appears scratched or abraded			LA12682-3
Specimen not dry before mailing			LA12683-1
Specimen appears supersaturated			LA12684-9
Specimen appears diluted, discolored or contaminated			LA12685-6
Specimen exhibits serum rings			LA12686-4
Specimen appears clotted or layered			LA12435-6
Specimen not eluting			LA20628-6
No blood			LA12687-2
Sample too old			LA12441-4
Testing of this specimen indicates more than one source of blood is present on the filter paper card			LA20630-2
Unsuitable for other reasons			LA20629-4

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
74874-9	Metabolic disorder therapy monitoring panel - DBS
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Condición de la muestra:Tipo:Punto temporal:DBS:Nominal:
es-ES	Spanish (Spain)	Condición de la muestra:Tipo:Punto temporal:gota de sangre (papel de filtro):Nom:
fr-FR	French (France)	Échantillon condition:Type:Ponctuel:Sang buvard:Résultat nominal:
fr-BE	French (Belgium)	Condition échantillon:Type:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-CA	French (Canada)	Qualité de l'échantillon:Type:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Campione, condizione:Tipo:Pt:Sangue.su carta da filtro:Nom: Synonyms: Caratteristiche campione Condizione del campione Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	monsterconditie:type:moment:gedroogde bloedspot:nominaal:
pt-BR	Portuguese (Brazil)	Condição da amostra:Tipo:Pt:SgPapel:Nom: Synonyms: Typ; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal
ru-RU	Russian (Russian Federation)	Образец состояние:Тип:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Örnek koşulu:Tip:Zmlı:Kan.nokta:Snf: Synonyms: Tür
zh-CN	Chinese (China)	标本状况:类型:时间点:全血.斑点:名义型: Synonyms: 健康状况;疾病;情况;病情;状态;条件全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答型时刻;随机;随意;瞬间标本（样本、样品、试样）状况（状态、情况）;样本状态;样本情况标本;标本信息;标本类血;血液

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57130-7 Newborn screening report - overall interpretation

Term Description

Reports the summary interpretation of the screening test from a short list of specified codes (to be developed by the NBS community)
Source: Regenstrief LOINC

Condition for Inclusion

If the state reports a summary impression.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Newborn screening report - overall interpretation
Property: Imp
Time: Pt
System: ^Patient
Scale: Nom
Method

Additional Names

Short Name: NBS report - overall interp
Display Name: NBS report - overall interpretation [Interp]
Consumer Name Alpha Get Info: NBS report - overall interpretation

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 1845

Example Answer List LL771-7

Answer	Code	Score	Answer ID
All screening is in range for the conditions tested			LA12428-1
Screen is borderline for at least one condition			LA12429-9
Screen is indeterminate for at least one condition			LA18943-3
Screen is out of range for at least one condition			LA18944-1
Out of range requiring further dried blood spot testing for at least one condition			LA12430-7
Out of range requiring immediate referral			LA25817-0
Out of range requiring immediate second-tier testing for at least one condition			LA12431-5
Out of range requiring deferred follow-up for at least one condition			LA18594-4
Screening not done due to parental refusal			LA14133-5
One or more tests pending			LA16204-2
Specimen unsatisfactory for at least one condition			LA16205-9

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Informe del cribado del recién nacido-interpretación general:Impresión/interpretación del estudio:Punto temporal:^paciente:Nom:
es-MX	Spanish (Mexico)	Informe de detección del recién nacido:interpretación general:Impresión / interpretación del estudio:Punto temporal:^ Paciente:Nominal
fr-FR	French (France)	Compte rendu dépistage néonatal - Interprétation:Interprétation:Ponctuel:Patient:Résultat nominal:
fr-BE	French (Belgium)	Rapport screening néonatal - interprétation générale:Impression/interprétation d'étude:Temps ponctuel:^Patient:Nominal:
it-IT	Italian (Italy)	Screening neonatale, referto - interpretazione generale:Imp:Pt:^Paziente:Nom: Synonyms: Chimica Impressione/interpretazione di studio Interpretazione generale di referto di screening n paziente Punto nel tempo (episodio) Referto
nl-NL	Dutch (Netherlands)	pasgeborene screening rapport - overall interpretatie:interpretatie:moment:^patiënt:nominaal:
pt-BR	Portuguese (Brazil)	Relatório de triagem neonatal - interpretação global:#N/A:Pt:^Paciente:Nom: Synonyms: ; NBS report - overall interp; Interp; Intrp; Interpret; Interpt; Impression; Impressions; Point in time; Random; Nominal; SCN; Asymptomatic; Asympt; Chemistry
ru-RU	Russian (Russian Federation)	Новорождённый скрининг отчёт - общая интерпретация:Впчт:ТчкВрм:^Пациент:Ном: Synonyms: Впечатление/интерпретация исследования Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Yenidoğan tarama raporu - genel yorum:İzlnm:Zmlı:^Hasta:Snf:
zh-CN	Chinese (China)	新生儿筛查报告 - 总体解释:印象:时间点:^患者:名义型: Synonyms: Asympt SCN 全面;整体;总体情况分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答判读;解释说明;说明;释义;阐明化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医疗服务对象;客户;病人;病患;病号;超系统 - 病人印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释报道;汇报;调查报告;报表;报导新生儿（NB）筛查（筛选、过筛、筛检）报告 - 总体（整体、宏观、大体、概括）解释（说明、阐释、诠释）无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验

57131-5 Newborn conditions with positive markers [Identifier] in DBS

Term Description

This variable list the conditions that that the markers suggest may be present. It is a coded result intended for easy access by decision support systems to identify the cases that need special attention. The LOINC code will include an answer list that covers all of the conditions screened for by any state. States would only make statements about the conditions they screen for. (This item is still under discussion by the NBS community and subject to change)
Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component: Newborn conditions with positive markers
Property: Prid
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: NB conditions positive DBS
Display Name: Newborn conditions with positive markers Nom (DBS)
Consumer Name Alpha Get Info: Newborn conditions with positive markers, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation
Common Test Rank Get Info: 17418

Preferred Answer List LL835-0

Answer	Code	Answer ID
None Copyright http://snomed.info/sct ID:260413007 None (qualifier value)		LA137-2
Hearing loss Copyright http://snomed.info/sct ID:15188001 Hearing loss (disorder)	HEAR	LA24366-9
2-Methyl-3-hydroxybutyric aciduria Copyright http://snomed.info/sct ID:791000124107 2-methyl-3-hydroxybutyric aciduria (disorder)	2M3HBA	LA12464-6
2-Methylbutyrylglycinuria Copyright http://snomed.info/sct ID:445596006 2-methylbutyrylglycinuria (disorder)	2MBG	LA12465-3
3-Methylcrotonyl-CoA carboxylase deficiency Copyright http://snomed.info/sct ID:13144005 Methylcrotonyl-coenzyme A carboxylase deficiency (disorder)	3-MCC	LA12466-1
3-Methylcrotonyl-CoA carboxylase deficiency (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder)	3-MCC (mat)	LA12467-9
3-Methylglutaconic aciduria Copyright http://snomed.info/sct ID:237950009 3-Methylglutaconic aciduria (disorder)	3MGA	LA12468-7
Pyroglutamic acidemia Copyright http://snomed.info/sct ID:39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder)	5-OXO	LA12469-5
Argininemia	ARG	LA21161-7
Argininosuccinic aciduria	ASA	LA21162-5
Biopterin defect in cofactor biosynthesis Copyright http://snomed.info/sct ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder)	BIOPT-BS	LA12472-9
Biopterin defect in cofactor regeneration Copyright http://snomed.info/sct ID:58256000 Dihydropteridine reductase deficiency (disorder)	BIOPT-REG	LA12473-7
Beta-ketothiolase deficiency Copyright http://snomed.info/sct ID:237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder)	BKT	LA12474-5
Carnitine acylcarnitine translocase deficiency Copyright http://snomed.info/sct ID:238003000 Carnitine acylcarnitine translocase deficiency (disorder)	CACT	LA12475-2
Cobalamin A disease Copyright http://snomed.info/sct ID:73843004 Cobalamin A disease (disorder)	CBL A	LA12476-0
Cobalamin B disease Copyright http://snomed.info/sct ID:82245003 Cobalamin B disease (disorder)	CBL B	LA12477-8
Cobalamin C disease Copyright http://snomed.info/sct ID:74653006 Cobalamin C disease (disorder)	CBL C	LA12478-6
Cobalamin D disease Copyright http://snomed.info/sct ID:31220004 Cobalamin D disease (disorder)	CBL D	LA12479-4
Cobalamin E disease Copyright http://snomed.info/sct ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder)	CBL E	LA12480-2
CBL G type Methylcobalamin deficiency Copyright http://snomed.info/sct ID:721187005 Methylcobalamin deficiency type cbl G (disorder)	CBL G	LA12481-0
Citrullinemia, type I Copyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder)	CIT-I	LA12482-8
Citrullinemia, type II Copyright http://snomed.info/sct ID:716863007 Citrullinemia type II (disorder)	CIT-II	LA12483-6
Carbamoyl-phosphate synthase deficiency Copyright http://snomed.info/sct ID:62522004 Congenital hyperammonemia, type I (disorder)	CPS	LA12484-4
Carnitine palmitoyltransferase type I deficiency Copyright http://snomed.info/sct ID:238001003 Carnitine palmitoyltransferase I deficiency (disorder)	CPT-Ia	LA12485-1
Carnitine palmitoyltransferase type II deficiency Copyright http://snomed.info/sct ID:238002005 Carnitine palmitoyltransferase II deficiency (disorder)	CPT-II	LA12486-9
Carnitine uptake deficiency/carnitine transport defect Copyright http://snomed.info/sct ID:21764004 Renal carnitine transport defect (disorder)	CUD	LA12487-7
Carnitine uptake deficiency/carnitine transport defect (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder)	CUD (mat)	LA12488-5
2,4-Dienoyl-CoA reductase deficiency Copyright http://snomed.info/sct ID:444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder)	De-Red	LA12489-3
Dihydrolipoamide dehydrogenase deficiency Copyright http://snomed.info/sct ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder)	E3	LA12490-1
Ethylmalonic encephalopathy Copyright http://snomed.info/sct ID:723307008 Ethylmalonic encephalopathy (disorder)	EMA	LA12491-9
Formiminoglutamic acidemia Copyright http://snomed.info/sct ID:59761008 Glutamate formiminotransferase deficiency (disorder)	FIGLU	LA12492-7
Glutaric acidemia type I Copyright http://snomed.info/sct ID:76175005 Glutaric aciduria, type 1 (disorder)	GA-1	LA12493-5
Glutaric acidemia (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder)	GA-1 (mat)	LA12494-3
Glutaric acidemia type II Copyright http://snomed.info/sct ID:22886006 Glutaric aciduria, type 2 (disorder)	GA-2	LA12495-0
Homocystinuria Copyright http://snomed.info/sct ID:11282001 Homocystinuria (disorder)	HCY	LA12496-8
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Copyright http://snomed.info/sct ID:30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder)	HHH	LA12497-6
Histidinemia Copyright http://snomed.info/sct ID:410058007 Histidinemia (disorder)	HIS	LA12498-4
3-Hydroxy-3-methylglutaric aciduria Copyright http://snomed.info/sct ID:410059004 Hydroxymethylglutaric aciduria (disorder)	HMG	LA12499-2
Hyperphenylalaninemia (variant, benign) Copyright http://snomed.info/sct ID:68528007 Hyperphenylalaninemia (disorder)	H-PHE	LA12500-7
Hyperlysinemia Copyright http://snomed.info/sct ID:58558003 Hyperlysinemia (disorder)	Hyper LYS	LA12501-5
Girate atrophy of the retina Copyright http://snomed.info/sct ID:314467007 Gyrate atrophy (disorder)	Hyper ORN	LA12502-3
Valinemia Copyright http://snomed.info/sct ID:47719001 Hypervalinemia (disorder)	Hyper VAL	LA12503-1
Isobutyrylglycinuria Copyright http://snomed.info/sct ID:445571008 Isobutyrylglycinuria (disorder)	IBG	LA12504-9
Isovaleric acidemia Copyright http://snomed.info/sct ID:87827003 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder)	IVA	LA12505-6
Primary lactic acidemia Copyright http://snomed.info/sct ID:190882007 Lactic acidemia (disorder)	LACTIC	LA12506-4
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:307127004 Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder)	LCHAD	LA12507-2
Malonic acidemia Copyright http://snomed.info/sct ID:124594007 Deficiency of malonyl-coenzyme A decarboxylase (disorder)	MAL	LA12508-0
Medium-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder)	MCAD	LA12509-8
Holoocarboxylase synthase deficiency Copyright http://snomed.info/sct ID:360369003 Holocarboxylase synthase deficiency (disorder)	MCD	LA12510-6
Medium-chain ketoacyl-CoA thiolase deficiency Copyright http://snomed.info/sct ID:124265004 Deficiency of acetyl-coenzyme A acyltransferase (disorder)	MCKAT	LA12511-4
Hypermethioninemia Copyright http://snomed.info/sct ID:43123004 Hypermethioninemia (disorder)	MET	LA12512-2
Maple syrup urine disease Copyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder)	MSUD	LA21168-2
Methylene tetrahydrofolate reductase deficiency Copyright http://snomed.info/sct ID:41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder)	MTHFR	LA12514-8
Methylmalonic acidemia Copyright http://snomed.info/sct ID:124680001 Deficiency of methylmalonyl-coenzyme A mutase (disorder)	MUT	LA12515-5
Nonketotic hyperglycinemia (glycine encephalopathy) Copyright http://snomed.info/sct ID:237939006 Non-ketotic hyperglycinemia (disorder)	NKHG	LA12516-3
Hydroxyprolinemia Copyright http://snomed.info/sct ID:25739007 Hyperhydroxyprolinemia (disorder)	OH PRO	LA12517-1
Ornithine transcarbamylase deficiency Copyright http://snomed.info/sct ID:80908008 Ornithine carbamoyltransferase deficiency (disorder)	OTC	LA12518-9
Pyruvate carboxylase deficiency Copyright http://snomed.info/sct ID:87694001 Pyruvate carboxylase deficiency (disorder)	PC	LA12519-7
Classic phenylketonuria Copyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder)	PKU	LA12520-5
Hyperprolinemia type I Copyright http://snomed.info/sct ID:61071003 Proline dehydrogenase deficiency (disorder)	PRO I	LA12521-3
Hyperprolinemia type II Copyright http://snomed.info/sct ID:717181004 Hyperprolinemia type 2 (disorder)	PRO II	LA12522-1
Propionic acidemia Copyright http://snomed.info/sct ID:69080001 Propionic acidemia (disorder)	PROP	LA12523-9
Short-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:124166007 Deficiency of butyryl-CoA dehydrogenase (disorder)	SCAD	LA12524-7
Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237998000 Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)	SCHAD	LA12525-4
Succinyl-CoA ligase deficiency Copyright http://snomed.info/sct ID:445275003 Deficiency of succinate-coenzyme A ligase (disorder)	SUCLA2	LA12526-2
Trifunctional protein deficiency Copyright http://snomed.info/sct ID:237999008 Mitochondrial trifunctional protein deficiency (disorder)	TFP	LA12527-0
Tyrosinemia, type I Copyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder)	TYR-I	LA12528-8
Tyrosinemia, type II Copyright http://snomed.info/sct ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder)	TYR-II	LA12529-6
Tyrosinemia, type III Copyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder)	TYR-III	LA12530-4
Very long-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237997005 Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder)	VLCAD	LA12531-2
Biotinidase deficiency Copyright http://snomed.info/sct ID:8808004 Biotinidase deficiency (disorder)	BIO	LA12532-0
Congenital adrenal hyperplasia Copyright http://snomed.info/sct ID:237751000 Congenital adrenal hyperplasia (disorder)	CAH	LA12533-8
Cystic fibrosis Copyright http://snomed.info/sct ID:190905008 Cystic fibrosis (disorder)	CF	LA22202-8
Primary congenital hypothyroidism Copyright http://snomed.info/sct ID:190268003 Congenital hypothyroidism (disorder)	CH	LA12538-7
Secondary congenital hypothyroidism Copyright http://snomed.info/sct ID:82598004 Secondary hypothyroidism (disorder)	CH2	LA12539-5
Glucose-6-phosphate dehydrogenase deficiency Copyright http://snomed.info/sct ID:124134002 Deficiency of glucose-6-phosphate dehydrogenase (disorder)	G6PD	LA12540-3
Galactoepimerase deficiency Copyright http://snomed.info/sct ID:8849004 Uridine diphosphate glucose-4-epimerase deficiency (disorder)	GALE	LA12541-1
Galactokinase deficiency Copyright http://snomed.info/sct ID:124302001 Deficiency of galactokinase (disorder)	GALT	LA12542-9
Classical galactosemia		LA21165-8
Hb C-carrier Copyright http://snomed.info/sct ID:76050008 Hemoglobin C trait (disorder)		LA12602-1
Hb D-carrier Copyright http://snomed.info/sct ID:7391009 Hemoglobin D trait (disorder)		LA12603-9
Hb E-carrier Copyright http://snomed.info/sct ID:46248003 Hemoglobin E trait (disorder)		LA12604-7
Hb O-Arab carrier		LA12605-4
Hb S (sickle)-carrier Copyright http://snomed.info/sct ID:16402000 Sickle cell trait (disorder)		LA12606-2
Hb C-disease Copyright http://snomed.info/sct ID:51053007 Hemoglobin C disease (disorder)		LA12607-0
Hb C beta-thalassemia Copyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder)		LA12608-8
Hb D-disease		LA12609-6
Hb D beta-thalassemia Copyright http://snomed.info/sct ID:119701000119106 Hemoglobin D/beta thalassemia disease (disorder)		LA12610-4
Hb beta zero-thalassemia Copyright http://snomed.info/sct ID:86715000 Beta zero thalassemia (disorder)		LA12611-2
Hb E-disease Copyright http://snomed.info/sct ID:25065001 Hemoglobin E disease (disorder)		LA12612-0
Hb E beta-thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder)		LA12613-8
Hb SS-disease (sickle cell anemia) Copyright http://snomed.info/sct ID:127040003 Sickle cell-hemoglobin SS disease (disorder)		LA12614-6
Hb S beta-thalassemia Copyright http://snomed.info/sct ID:127041004 Sickle cell-beta-thalassemia (disorder)		LA12615-3
Hb SC-disease Copyright http://snomed.info/sct ID:35434009 Sickle cell-hemoglobin C disease (disorder)		LA12616-1
Hb SD-disease Copyright http://snomed.info/sct ID:25472008 Sickle cell-hemoglobin D disease (disorder)		LA12617-9
Hb SE-disease Copyright http://snomed.info/sct ID:47024008 Sickle cell-hemoglobin E disease (disorder)		LA12618-7
Hb S O-Arab disease Copyright http://snomed.info/sct ID:127048005 Sickle cell-Hemoglobin O Arab disease (disorder)		LA12619-5
Hb S plus Hb other than A,C,D,E,O-Arab disease Copyright http://snomed.info/sct ID:23269001 Double heterozygous sickling disorder (disorder)		LA12620-3
Hb disease other than A, C, D, E, H,O-Arab, S Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder)		LA12621-1
Hb carrier other than C, D, E, S ,O-Arab		LA12622-9
Congenital HIV Copyright http://snomed.info/sct ID:52079000 Congenital human immunodeficiency virus infection (disorder)	HIV	LA12565-0
Severe combined immunodeficiency Copyright http://snomed.info/sct ID:31323000 Severe combined immunodeficiency disease (disorder)	SCID	LA12566-8
Thyroid-binding globulin deficiency Copyright http://snomed.info/sct ID:237544006 Thyroid-binding globulin deficiency (disorder)	TBG	LA12567-6
Congenital toxoplasmosis Copyright http://snomed.info/sct ID:73893000 Congenital toxoplasmosis (disorder)	TOXO	LA12568-4
CIT-I or CIT-II or ASA		LA12569-2
HCY or MET or CBL C		LA12570-0
PKU or BIPT-BS or BIOPT-REG or H-PHE		LA12571-8
TYR-1 or TYR-II or TYR-III		LA12572-6
CPT-II or CACT		LA12573-4
LCHAD or TFP		LA12574-2
MCAD or SCAD or GA-2(MADD)		LA12575-9
SCAD or EMA or IBG or GA-2 (MADD)		LA12576-7
2M3HBA or BKT-2		LA12577-5
IVA or 2MBG or GA-2 or EMA		LA12578-3
PROP or CBL A or CBL B or MUT or CBL C or MCD		LA12579-1
3-MCC or 3-MCC (mat) or 3MGA or BKT or HMG or MCD or BIO		LA12915-7
CUD or CUD (mat) or CPT-Ia		LA12916-5
GA-1 or GA-2		LA12917-3
Fabry disease Copyright http://snomed.info/sct ID:16652001 Fabry's disease (disorder)	GLA	LA14036-0
Pompe disease Copyright http://snomed.info/sct ID:274864009 Glycogen storage disease, type II (disorder)	GAA	LA14037-8
Krabbe disease Copyright http://snomed.info/sct ID:192782005 Galactosylceramide beta-galactosidase deficiency (disorder)	GALC	LA14038-6
Gaucher disease Copyright http://snomed.info/sct ID:190794006 Glucosylceramide beta-glucosidase deficiency (disorder)	GBA	LA14039-4
Niemann Pick disease A/B Copyright http://snomed.info/sct ID:58459009 Sphingomyelin/cholesterol lipidosis (disorder)	ASM	LA14040-2
Hb H-disease Copyright http://snomed.info/sct ID:48553001 Hemoglobin H disease (disorder)		LA16007-9
Hemoglobinopathies Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder)		LA16207-5
Critical congenital heart disease	CCHD	LA20349-9
X-linked adrenoleukodystrophy Copyright http://snomed.info/sct ID:65389002 Adrenoleukodystrophy (disorder)	X-ALD	LA25796-6
Mucopolysaccharidosis type I Copyright http://snomed.info/sct ID:75610003 Mucopolysaccharidosis type I (disorder)	MPS-I	LA25797-4
Guanidinoacetate N-methyltransferase deficiency Copyright http://snomed.info/sct ID:124239003 Deficiency of guanidinoacetate methyltransferase (disorder)	GAMT	LA30113-7
L-arginine:glycine amidinotransferase deficiency Copyright http://snomed.info/sct ID:702440000 Cerebral creatine deficiency syndrome 3 (disorder)	AGAT	LA30114-5
X-linked creatine transporter (CRTR) deficiency Copyright http://snomed.info/sct ID:698290008 X-linked creatine deficiency (disorder)	CRTR	LA30492-5
Spinal muscular atrophy Copyright http://snomed.info/sct ID:5262007 Spinal muscular atrophy (disorder)	SMA	LA22279-6

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Estado del recién nacido con marcadores positivos:Presencia o identidad:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Condiciones del recién nacido con marcadores positivos:Presencia o identidad:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Conditions néonatales avec marqueurs présents:Identification:Ponctuel:Sang buvard:Résultat nominal:
fr-BE	French (Belgium)	Conditions néonatales avec marqueurs positifs:Présence ou identité:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Neonato, condizioni con marcatori positivi:Prid:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Condizioni del neonato con marcatori positivi Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco
pt-BR	Portuguese (Brazil)	Condições de recém-nascidos com marcadores positivos:Ident:Pt:SgPapel:Nom: Synonyms: ; NB conditions positive; Identity or presence; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; Pos; New born; Chemistry
ru-RU	Russian (Russian Federation)	Новорождённый состояния с позитивными маркерами:ПрИд:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Кровь Кровь сухая капля Номинальный;Именной Присутствие или Идентификация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Pozitif belirteçli yenidoğan durumları:MevcKimlik:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	带有阳性标志的新生儿健康状况:存在与否或特征标识:时间点:全血.斑点:名义型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类存在;存在与否;特征标识;身份;身份标识带有阳性标记的新生儿健康状况（状况、情况、病情）时刻;随机;随意;瞬间结果阳性血;血液试验阳性试验阳性的阳性结果

Third Party Copyright

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57720-5 Newborn conditions with equivocal markers [Identifier] in DBS

Observation Required in Panel

Required

Fully-Specified Name

Component: Newborn conditions with equivocal markers
Property: Prid
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: NB conditions with equivocal markers
Display Name: Newborn conditions with equivocal markers Nom (DBS)
Consumer Name Alpha Get Info: Newborn conditions with equivocal markers, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation
Common Test Rank Get Info: 17163

Preferred Answer List LL835-0

Answer	Code	Answer ID
None Copyright http://snomed.info/sct ID:260413007 None (qualifier value)		LA137-2
Hearing loss Copyright http://snomed.info/sct ID:15188001 Hearing loss (disorder)	HEAR	LA24366-9
2-Methyl-3-hydroxybutyric aciduria Copyright http://snomed.info/sct ID:791000124107 2-methyl-3-hydroxybutyric aciduria (disorder)	2M3HBA	LA12464-6
2-Methylbutyrylglycinuria Copyright http://snomed.info/sct ID:445596006 2-methylbutyrylglycinuria (disorder)	2MBG	LA12465-3
3-Methylcrotonyl-CoA carboxylase deficiency Copyright http://snomed.info/sct ID:13144005 Methylcrotonyl-coenzyme A carboxylase deficiency (disorder)	3-MCC	LA12466-1
3-Methylcrotonyl-CoA carboxylase deficiency (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder)	3-MCC (mat)	LA12467-9
3-Methylglutaconic aciduria Copyright http://snomed.info/sct ID:237950009 3-Methylglutaconic aciduria (disorder)	3MGA	LA12468-7
Pyroglutamic acidemia Copyright http://snomed.info/sct ID:39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder)	5-OXO	LA12469-5
Argininemia	ARG	LA21161-7
Argininosuccinic aciduria	ASA	LA21162-5
Biopterin defect in cofactor biosynthesis Copyright http://snomed.info/sct ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder)	BIOPT-BS	LA12472-9
Biopterin defect in cofactor regeneration Copyright http://snomed.info/sct ID:58256000 Dihydropteridine reductase deficiency (disorder)	BIOPT-REG	LA12473-7
Beta-ketothiolase deficiency Copyright http://snomed.info/sct ID:237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder)	BKT	LA12474-5
Carnitine acylcarnitine translocase deficiency Copyright http://snomed.info/sct ID:238003000 Carnitine acylcarnitine translocase deficiency (disorder)	CACT	LA12475-2
Cobalamin A disease Copyright http://snomed.info/sct ID:73843004 Cobalamin A disease (disorder)	CBL A	LA12476-0
Cobalamin B disease Copyright http://snomed.info/sct ID:82245003 Cobalamin B disease (disorder)	CBL B	LA12477-8
Cobalamin C disease Copyright http://snomed.info/sct ID:74653006 Cobalamin C disease (disorder)	CBL C	LA12478-6
Cobalamin D disease Copyright http://snomed.info/sct ID:31220004 Cobalamin D disease (disorder)	CBL D	LA12479-4
Cobalamin E disease Copyright http://snomed.info/sct ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder)	CBL E	LA12480-2
CBL G type Methylcobalamin deficiency Copyright http://snomed.info/sct ID:721187005 Methylcobalamin deficiency type cbl G (disorder)	CBL G	LA12481-0
Citrullinemia, type I Copyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder)	CIT-I	LA12482-8
Citrullinemia, type II Copyright http://snomed.info/sct ID:716863007 Citrullinemia type II (disorder)	CIT-II	LA12483-6
Carbamoyl-phosphate synthase deficiency Copyright http://snomed.info/sct ID:62522004 Congenital hyperammonemia, type I (disorder)	CPS	LA12484-4
Carnitine palmitoyltransferase type I deficiency Copyright http://snomed.info/sct ID:238001003 Carnitine palmitoyltransferase I deficiency (disorder)	CPT-Ia	LA12485-1
Carnitine palmitoyltransferase type II deficiency Copyright http://snomed.info/sct ID:238002005 Carnitine palmitoyltransferase II deficiency (disorder)	CPT-II	LA12486-9
Carnitine uptake deficiency/carnitine transport defect Copyright http://snomed.info/sct ID:21764004 Renal carnitine transport defect (disorder)	CUD	LA12487-7
Carnitine uptake deficiency/carnitine transport defect (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder)	CUD (mat)	LA12488-5
2,4-Dienoyl-CoA reductase deficiency Copyright http://snomed.info/sct ID:444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder)	De-Red	LA12489-3
Dihydrolipoamide dehydrogenase deficiency Copyright http://snomed.info/sct ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder)	E3	LA12490-1
Ethylmalonic encephalopathy Copyright http://snomed.info/sct ID:723307008 Ethylmalonic encephalopathy (disorder)	EMA	LA12491-9
Formiminoglutamic acidemia Copyright http://snomed.info/sct ID:59761008 Glutamate formiminotransferase deficiency (disorder)	FIGLU	LA12492-7
Glutaric acidemia type I Copyright http://snomed.info/sct ID:76175005 Glutaric aciduria, type 1 (disorder)	GA-1	LA12493-5
Glutaric acidemia (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder)	GA-1 (mat)	LA12494-3
Glutaric acidemia type II Copyright http://snomed.info/sct ID:22886006 Glutaric aciduria, type 2 (disorder)	GA-2	LA12495-0
Homocystinuria Copyright http://snomed.info/sct ID:11282001 Homocystinuria (disorder)	HCY	LA12496-8
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Copyright http://snomed.info/sct ID:30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder)	HHH	LA12497-6
Histidinemia Copyright http://snomed.info/sct ID:410058007 Histidinemia (disorder)	HIS	LA12498-4
3-Hydroxy-3-methylglutaric aciduria Copyright http://snomed.info/sct ID:410059004 Hydroxymethylglutaric aciduria (disorder)	HMG	LA12499-2
Hyperphenylalaninemia (variant, benign) Copyright http://snomed.info/sct ID:68528007 Hyperphenylalaninemia (disorder)	H-PHE	LA12500-7
Hyperlysinemia Copyright http://snomed.info/sct ID:58558003 Hyperlysinemia (disorder)	Hyper LYS	LA12501-5
Girate atrophy of the retina Copyright http://snomed.info/sct ID:314467007 Gyrate atrophy (disorder)	Hyper ORN	LA12502-3
Valinemia Copyright http://snomed.info/sct ID:47719001 Hypervalinemia (disorder)	Hyper VAL	LA12503-1
Isobutyrylglycinuria Copyright http://snomed.info/sct ID:445571008 Isobutyrylglycinuria (disorder)	IBG	LA12504-9
Isovaleric acidemia Copyright http://snomed.info/sct ID:87827003 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder)	IVA	LA12505-6
Primary lactic acidemia Copyright http://snomed.info/sct ID:190882007 Lactic acidemia (disorder)	LACTIC	LA12506-4
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:307127004 Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder)	LCHAD	LA12507-2
Malonic acidemia Copyright http://snomed.info/sct ID:124594007 Deficiency of malonyl-coenzyme A decarboxylase (disorder)	MAL	LA12508-0
Medium-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder)	MCAD	LA12509-8
Holoocarboxylase synthase deficiency Copyright http://snomed.info/sct ID:360369003 Holocarboxylase synthase deficiency (disorder)	MCD	LA12510-6
Medium-chain ketoacyl-CoA thiolase deficiency Copyright http://snomed.info/sct ID:124265004 Deficiency of acetyl-coenzyme A acyltransferase (disorder)	MCKAT	LA12511-4
Hypermethioninemia Copyright http://snomed.info/sct ID:43123004 Hypermethioninemia (disorder)	MET	LA12512-2
Maple syrup urine disease Copyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder)	MSUD	LA21168-2
Methylene tetrahydrofolate reductase deficiency Copyright http://snomed.info/sct ID:41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder)	MTHFR	LA12514-8
Methylmalonic acidemia Copyright http://snomed.info/sct ID:124680001 Deficiency of methylmalonyl-coenzyme A mutase (disorder)	MUT	LA12515-5
Nonketotic hyperglycinemia (glycine encephalopathy) Copyright http://snomed.info/sct ID:237939006 Non-ketotic hyperglycinemia (disorder)	NKHG	LA12516-3
Hydroxyprolinemia Copyright http://snomed.info/sct ID:25739007 Hyperhydroxyprolinemia (disorder)	OH PRO	LA12517-1
Ornithine transcarbamylase deficiency Copyright http://snomed.info/sct ID:80908008 Ornithine carbamoyltransferase deficiency (disorder)	OTC	LA12518-9
Pyruvate carboxylase deficiency Copyright http://snomed.info/sct ID:87694001 Pyruvate carboxylase deficiency (disorder)	PC	LA12519-7
Classic phenylketonuria Copyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder)	PKU	LA12520-5
Hyperprolinemia type I Copyright http://snomed.info/sct ID:61071003 Proline dehydrogenase deficiency (disorder)	PRO I	LA12521-3
Hyperprolinemia type II Copyright http://snomed.info/sct ID:717181004 Hyperprolinemia type 2 (disorder)	PRO II	LA12522-1
Propionic acidemia Copyright http://snomed.info/sct ID:69080001 Propionic acidemia (disorder)	PROP	LA12523-9
Short-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:124166007 Deficiency of butyryl-CoA dehydrogenase (disorder)	SCAD	LA12524-7
Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237998000 Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)	SCHAD	LA12525-4
Succinyl-CoA ligase deficiency Copyright http://snomed.info/sct ID:445275003 Deficiency of succinate-coenzyme A ligase (disorder)	SUCLA2	LA12526-2
Trifunctional protein deficiency Copyright http://snomed.info/sct ID:237999008 Mitochondrial trifunctional protein deficiency (disorder)	TFP	LA12527-0
Tyrosinemia, type I Copyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder)	TYR-I	LA12528-8
Tyrosinemia, type II Copyright http://snomed.info/sct ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder)	TYR-II	LA12529-6
Tyrosinemia, type III Copyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder)	TYR-III	LA12530-4
Very long-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237997005 Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder)	VLCAD	LA12531-2
Biotinidase deficiency Copyright http://snomed.info/sct ID:8808004 Biotinidase deficiency (disorder)	BIO	LA12532-0
Congenital adrenal hyperplasia Copyright http://snomed.info/sct ID:237751000 Congenital adrenal hyperplasia (disorder)	CAH	LA12533-8
Cystic fibrosis Copyright http://snomed.info/sct ID:190905008 Cystic fibrosis (disorder)	CF	LA22202-8
Primary congenital hypothyroidism Copyright http://snomed.info/sct ID:190268003 Congenital hypothyroidism (disorder)	CH	LA12538-7
Secondary congenital hypothyroidism Copyright http://snomed.info/sct ID:82598004 Secondary hypothyroidism (disorder)	CH2	LA12539-5
Glucose-6-phosphate dehydrogenase deficiency Copyright http://snomed.info/sct ID:124134002 Deficiency of glucose-6-phosphate dehydrogenase (disorder)	G6PD	LA12540-3
Galactoepimerase deficiency Copyright http://snomed.info/sct ID:8849004 Uridine diphosphate glucose-4-epimerase deficiency (disorder)	GALE	LA12541-1
Galactokinase deficiency Copyright http://snomed.info/sct ID:124302001 Deficiency of galactokinase (disorder)	GALT	LA12542-9
Classical galactosemia		LA21165-8
Hb C-carrier Copyright http://snomed.info/sct ID:76050008 Hemoglobin C trait (disorder)		LA12602-1
Hb D-carrier Copyright http://snomed.info/sct ID:7391009 Hemoglobin D trait (disorder)		LA12603-9
Hb E-carrier Copyright http://snomed.info/sct ID:46248003 Hemoglobin E trait (disorder)		LA12604-7
Hb O-Arab carrier		LA12605-4
Hb S (sickle)-carrier Copyright http://snomed.info/sct ID:16402000 Sickle cell trait (disorder)		LA12606-2
Hb C-disease Copyright http://snomed.info/sct ID:51053007 Hemoglobin C disease (disorder)		LA12607-0
Hb C beta-thalassemia Copyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder)		LA12608-8
Hb D-disease		LA12609-6
Hb D beta-thalassemia Copyright http://snomed.info/sct ID:119701000119106 Hemoglobin D/beta thalassemia disease (disorder)		LA12610-4
Hb beta zero-thalassemia Copyright http://snomed.info/sct ID:86715000 Beta zero thalassemia (disorder)		LA12611-2
Hb E-disease Copyright http://snomed.info/sct ID:25065001 Hemoglobin E disease (disorder)		LA12612-0
Hb E beta-thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder)		LA12613-8
Hb SS-disease (sickle cell anemia) Copyright http://snomed.info/sct ID:127040003 Sickle cell-hemoglobin SS disease (disorder)		LA12614-6
Hb S beta-thalassemia Copyright http://snomed.info/sct ID:127041004 Sickle cell-beta-thalassemia (disorder)		LA12615-3
Hb SC-disease Copyright http://snomed.info/sct ID:35434009 Sickle cell-hemoglobin C disease (disorder)		LA12616-1
Hb SD-disease Copyright http://snomed.info/sct ID:25472008 Sickle cell-hemoglobin D disease (disorder)		LA12617-9
Hb SE-disease Copyright http://snomed.info/sct ID:47024008 Sickle cell-hemoglobin E disease (disorder)		LA12618-7
Hb S O-Arab disease Copyright http://snomed.info/sct ID:127048005 Sickle cell-Hemoglobin O Arab disease (disorder)		LA12619-5
Hb S plus Hb other than A,C,D,E,O-Arab disease Copyright http://snomed.info/sct ID:23269001 Double heterozygous sickling disorder (disorder)		LA12620-3
Hb disease other than A, C, D, E, H,O-Arab, S Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder)		LA12621-1
Hb carrier other than C, D, E, S ,O-Arab		LA12622-9
Congenital HIV Copyright http://snomed.info/sct ID:52079000 Congenital human immunodeficiency virus infection (disorder)	HIV	LA12565-0
Severe combined immunodeficiency Copyright http://snomed.info/sct ID:31323000 Severe combined immunodeficiency disease (disorder)	SCID	LA12566-8
Thyroid-binding globulin deficiency Copyright http://snomed.info/sct ID:237544006 Thyroid-binding globulin deficiency (disorder)	TBG	LA12567-6
Congenital toxoplasmosis Copyright http://snomed.info/sct ID:73893000 Congenital toxoplasmosis (disorder)	TOXO	LA12568-4
CIT-I or CIT-II or ASA		LA12569-2
HCY or MET or CBL C		LA12570-0
PKU or BIPT-BS or BIOPT-REG or H-PHE		LA12571-8
TYR-1 or TYR-II or TYR-III		LA12572-6
CPT-II or CACT		LA12573-4
LCHAD or TFP		LA12574-2
MCAD or SCAD or GA-2(MADD)		LA12575-9
SCAD or EMA or IBG or GA-2 (MADD)		LA12576-7
2M3HBA or BKT-2		LA12577-5
IVA or 2MBG or GA-2 or EMA		LA12578-3
PROP or CBL A or CBL B or MUT or CBL C or MCD		LA12579-1
3-MCC or 3-MCC (mat) or 3MGA or BKT or HMG or MCD or BIO		LA12915-7
CUD or CUD (mat) or CPT-Ia		LA12916-5
GA-1 or GA-2		LA12917-3
Fabry disease Copyright http://snomed.info/sct ID:16652001 Fabry's disease (disorder)	GLA	LA14036-0
Pompe disease Copyright http://snomed.info/sct ID:274864009 Glycogen storage disease, type II (disorder)	GAA	LA14037-8
Krabbe disease Copyright http://snomed.info/sct ID:192782005 Galactosylceramide beta-galactosidase deficiency (disorder)	GALC	LA14038-6
Gaucher disease Copyright http://snomed.info/sct ID:190794006 Glucosylceramide beta-glucosidase deficiency (disorder)	GBA	LA14039-4
Niemann Pick disease A/B Copyright http://snomed.info/sct ID:58459009 Sphingomyelin/cholesterol lipidosis (disorder)	ASM	LA14040-2
Hb H-disease Copyright http://snomed.info/sct ID:48553001 Hemoglobin H disease (disorder)		LA16007-9
Hemoglobinopathies Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder)		LA16207-5
Critical congenital heart disease	CCHD	LA20349-9
X-linked adrenoleukodystrophy Copyright http://snomed.info/sct ID:65389002 Adrenoleukodystrophy (disorder)	X-ALD	LA25796-6
Mucopolysaccharidosis type I Copyright http://snomed.info/sct ID:75610003 Mucopolysaccharidosis type I (disorder)	MPS-I	LA25797-4
Guanidinoacetate N-methyltransferase deficiency Copyright http://snomed.info/sct ID:124239003 Deficiency of guanidinoacetate methyltransferase (disorder)	GAMT	LA30113-7
L-arginine:glycine amidinotransferase deficiency Copyright http://snomed.info/sct ID:702440000 Cerebral creatine deficiency syndrome 3 (disorder)	AGAT	LA30114-5
X-linked creatine transporter (CRTR) deficiency Copyright http://snomed.info/sct ID:698290008 X-linked creatine deficiency (disorder)	CRTR	LA30492-5
Spinal muscular atrophy Copyright http://snomed.info/sct ID:5262007 Spinal muscular atrophy (disorder)	SMA	LA22279-6

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Estado del recién nacido con marcadores equívocos:Presencia o identidad:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Condiciones del recién nacido con marcadores equívocos:Presencia o identidad:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Conditions néonatales avec marqueurs équivoques:Identification:Ponctuel:Sang buvard:Résultat nominal:
fr-BE	French (Belgium)	Conditions néonatales avec marqueurs équivoques:Présence ou identité:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Neonato, condizioni con marcatori sospetti:Prid:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Condizioni del neonato con marcatori sospetti Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco
pt-BR	Portuguese (Brazil)	Condições de recém-nascidos com marcadores equívocos:Ident:Pt:SgPapel:Nom: Synonyms: ; NB conditions with equivocal markers; Identity or presence; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; New born; Chemistry
ru-RU	Russian (Russian Federation)	Новорождённый состояние с неопределённые маркеры:ПрИд:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Кровь Кровь сухая капля Номинальный;Именной Присутствие или Идентификация Точка во времени;Момент
tr-TR	Turkish (Turkey)	Kuşkulu belirteçli yenidoğan şartları:MevcKimlik:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	带有模糊标志的新生儿健康状况:存在与否或特征标识:时间点:全血.斑点:名义型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类存在;存在与否;特征标识;身份;身份标识带有模糊（含糊、模棱两可、不明确、含糊其词、不明）标记新生儿健康状况（状况、情况、病情）时刻;随机;随意;瞬间血;血液

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

57724-7 Newborn screening short narrative summary

Observation Required in Panel

Optional

Fully-Specified Name

Component: Newborn screening short narrative summary
Property: Txt
Time: Pt
System: ^Patient
Scale: Nar
Method

Additional Names

Short Name: NBS short summary
Display Name: NBS short narrative summary Nar
Consumer Name Alpha Get Info: NBS short narrative summary

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 17668

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Resumen narrativo corto del cribado del recién nacido:Texto:Punto temporal:^paciente:Narrativo:
es-MX	Spanish (Mexico)	Breve resumen narrativo de la detección del recién nacido:Texto:Punto temporal:^ Paciente:Narrativo:
fr-FR	French (France)	Dépistage néonatal résumé compte rendu:Texte:Ponctuel:Patient:Résultat textuel:
fr-BE	French (Belgium)	Screening Nouveau-né. Résumé court:Texte:Temps ponctuel:^Patient:Narratif:
it-IT	Italian (Italy)	Screening neonatale, breve resoconto:Txt:Pt:^Paziente:Nar: Synonyms: Breve resoconto di screening neonatale Chimica paziente Punto nel tempo (episodio) Testo
nl-NL	Dutch (Netherlands)	pasgeborene screening korte tekstuele samnvatting:tekst:moment:^patiënt:tekstueel:
pt-BR	Portuguese (Brazil)	Triagem neonatal pequeno sumário narrativo:#N/A:Pt:^Paciente:Nar: Synonyms: ; NBSshort summary; Point in time; Random; Report; SCN; Asymptomatic; Asympt; New born; Chemistry
ru-RU	Russian (Russian Federation)	Новорождённый скрининг краткий описательный краткие сведения:Txt:ТчкВрм:^Пациент:Опис: Synonyms: Описательный Текст Точка во времени;Момент
tr-TR	Turkish (Turkey)	Yenidoğan tarama kısa yazılı özet:Metin:Zmlı:^Hasta:Öykü:
zh-CN	Chinese (China)	新生儿筛查简述摘要:文本型属性:时间点:^患者:叙述型: Synonyms: Asympt SCN 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医疗服务对象;客户;病人;病患;病号;超系统 - 病人叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）简述摘要（小结、概要、总结、梗概、概括、总汇）;新生儿筛查简短叙述摘要无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验

57129-9 Full newborn screening summary report for display or printing

Term Description

This code indicates that the OBX-5 carries a summary new born screen report as formatted text. Use HL7 type FT or if you want to see as PDF use HL7 encoded data type (ED) and send as binary data in the OBX-5. It is an option entry that provides a convenient way for laboratories to send reports for display and/or printing to clinicians with whatever format they now deliver. If sent as a PDF it could include letter head, water marks etc.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component: Full newborn screening summary report for display or printing
Property: -
Time: Pt
System: ^Patient
Scale: Doc
Method

Additional Names

Short Name: Full NBS summary for display/printing
Display Name: Full NBS summary report for display or printing Doc
Consumer Name Alpha Get Info: Full NBS Summary Report for Display Or Printing

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.38
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Informe de cribado total en el recién nacido para su visualización o impresión:Propiedades mixtas (sólo paneles):Punto temporal:^paciente:Doc:
es-MX	Spanish (Mexico)	Informe resumido completo de las pruebas de detección del recién nacido para su visualización o impresión:-:Punto temporal:^ Paciente:Documento:
it-IT	Italian (Italy)	Screening neonatale completo, referto generale per la visualizzazione o la stampa:-:Pt:^Paziente:Doc: Synonyms: Chimica paziente Punto nel tempo (episodio) Referto Referto generale di screening neonatale completo p
nl-NL	Dutch (Netherlands)	volledig verslag screening nieuwgeborene voor weergave en afdrukken:-:moment:^patiënt:document: Synonyms: volledige pasgeborene screening samenvattend rapport voor weergave of om te printen
pt-BR	Portuguese (Brazil)	Relatório completo de síntese de Triagem Neonatal para exibição ou impressão:#N/A:Pt:^Paciente:Doc: Synonyms: ; Full NBS summary for display & print; Point in time; Random; SCN; Asymptomatic; Asympt; New born; Chemistry
ru-RU	Russian (Russian Federation)	Полный новорождённый скрининг краткие сведения отчёт для вывода на экран или печати:-:ТчкВрм:^Пациент:Док: Synonyms: Документ Точка во времени;Момент
tr-TR	Turkish (Turkey)	Tam yenidoğan tarama özet raporu görüntü veya baskı için:-:Zmlı:^Hasta:Dokm:
zh-CN	Chinese (China)	适用于显示或打印的全面新生儿筛查摘要报告:-:时间点:^患者:文档型: Synonyms: Asympt SCN 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医疗服务对象;客户;病人;病患;病号;超系统 - 病人报道;汇报;调查报告;报表;报导无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验适于显示或打印的全面新生儿（NB）筛查（筛选、过筛、筛检）摘要报告;用于显示或打印的全面新生儿筛查摘要报告;适用于显示或打印的完整新生儿筛查摘要报告

57719-7 Conditions tested for in this newborn screening study [Identifier] in DBS

Observation Required in Panel

Required

Fully-Specified Name

Component: Conditions tested for in this newborn screening study
Property: ID
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: Conditions tested for in NBS study DBS
Display Name: Conditions tested for in this NBS study Nom (DBS) [ID]
Consumer Name Alpha Get Info: Conditions Tested for in This NBS Study, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation
Common Test Rank Get Info: 673

Preferred Answer List LL841-8

Answer	Code	Answer ID
Hemoglobin C crystals		LA11231-0
Hearing loss Copyright http://snomed.info/sct ID:15188001 Hearing loss (disorder)	HEAR	LA24366-9
2-Methyl-3-hydroxybutyric aciduria Copyright http://snomed.info/sct ID:791000124107 2-methyl-3-hydroxybutyric aciduria (disorder)	2M3HBA	LA12464-6
2-Methylbutyrylglycinuria Copyright http://snomed.info/sct ID:445596006 2-methylbutyrylglycinuria (disorder)	2MBG	LA12465-3
3-Methylcrotonyl-CoA carboxylase deficiency Copyright http://snomed.info/sct ID:13144005 Methylcrotonyl-coenzyme A carboxylase deficiency (disorder)	3-MCC	LA12466-1
3-Methylcrotonyl-CoA carboxylase deficiency (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder)	3-MCC (mat)	LA12467-9
3-Methylglutaconic aciduria Copyright http://snomed.info/sct ID:237950009 3-Methylglutaconic aciduria (disorder)	3MGA	LA12468-7
Pyroglutamic acidemia Copyright http://snomed.info/sct ID:39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder)	5-OXO	LA12469-5
Argininemia	ARG	LA21161-7
Argininosuccinic aciduria	ASA	LA21162-5
Biopterin defect in cofactor biosynthesis Copyright http://snomed.info/sct ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder)	BIOPT-BS	LA12472-9
Biopterin defect in cofactor regeneration Copyright http://snomed.info/sct ID:58256000 Dihydropteridine reductase deficiency (disorder)	BIOPT-REG	LA12473-7
Beta-ketothiolase deficiency Copyright http://snomed.info/sct ID:237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder)	BKT	LA12474-5
Carnitine acylcarnitine translocase deficiency Copyright http://snomed.info/sct ID:238003000 Carnitine acylcarnitine translocase deficiency (disorder)	CACT	LA12475-2
Cobalamin A disease Copyright http://snomed.info/sct ID:73843004 Cobalamin A disease (disorder)	CBL A	LA12476-0
Cobalamin B disease Copyright http://snomed.info/sct ID:82245003 Cobalamin B disease (disorder)	CBL B	LA12477-8
Cobalamin C disease Copyright http://snomed.info/sct ID:74653006 Cobalamin C disease (disorder)	CBL C	LA12478-6
Cobalamin D disease Copyright http://snomed.info/sct ID:31220004 Cobalamin D disease (disorder)	CBL D	LA12479-4
Cobalamin E disease Copyright http://snomed.info/sct ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder)	CBL E	LA12480-2
CBL G type Methylcobalamin deficiency Copyright http://snomed.info/sct ID:721187005 Methylcobalamin deficiency type cbl G (disorder)	CBL G	LA12481-0
Citrullinemia, type I Copyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder)	CIT-I	LA12482-8
Citrullinemia, type II Copyright http://snomed.info/sct ID:716863007 Citrullinemia type II (disorder)	CIT-II	LA12483-6
Carbamoyl-phosphate synthase deficiency Copyright http://snomed.info/sct ID:62522004 Congenital hyperammonemia, type I (disorder)	CPS	LA12484-4
Carnitine palmitoyltransferase type I deficiency Copyright http://snomed.info/sct ID:238001003 Carnitine palmitoyltransferase I deficiency (disorder)	CPT-Ia	LA12485-1
Carnitine palmitoyltransferase type II deficiency Copyright http://snomed.info/sct ID:238002005 Carnitine palmitoyltransferase II deficiency (disorder)	CPT-II	LA12486-9
Carnitine uptake deficiency/carnitine transport defect Copyright http://snomed.info/sct ID:21764004 Renal carnitine transport defect (disorder)	CUD	LA12487-7
Carnitine uptake deficiency/carnitine transport defect (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder)	CUD (mat)	LA12488-5
2,4-Dienoyl-CoA reductase deficiency Copyright http://snomed.info/sct ID:444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder)	De-Red	LA12489-3
Dihydrolipoamide dehydrogenase deficiency Copyright http://snomed.info/sct ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder)	E3	LA12490-1
Ethylmalonic encephalopathy Copyright http://snomed.info/sct ID:723307008 Ethylmalonic encephalopathy (disorder)	EMA	LA12491-9
Formiminoglutamic acidemia Copyright http://snomed.info/sct ID:59761008 Glutamate formiminotransferase deficiency (disorder)	FIGLU	LA12492-7
Glutaric acidemia type I Copyright http://snomed.info/sct ID:76175005 Glutaric aciduria, type 1 (disorder)	GA-1	LA12493-5
Glutaric acidemia (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder)	GA-1 (mat)	LA12494-3
Glutaric acidemia type II Copyright http://snomed.info/sct ID:22886006 Glutaric aciduria, type 2 (disorder)	GA-2	LA12495-0
Homocystinuria Copyright http://snomed.info/sct ID:11282001 Homocystinuria (disorder)	HCY	LA12496-8
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Copyright http://snomed.info/sct ID:30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder)	HHH	LA12497-6
Histidinemia Copyright http://snomed.info/sct ID:410058007 Histidinemia (disorder)	HIS	LA12498-4
3-Hydroxy-3-methylglutaric aciduria Copyright http://snomed.info/sct ID:410059004 Hydroxymethylglutaric aciduria (disorder)	HMG	LA12499-2
Hyperphenylalaninemia (variant, benign) Copyright http://snomed.info/sct ID:68528007 Hyperphenylalaninemia (disorder)	H-PHE	LA12500-7
Hyperlysinemia Copyright http://snomed.info/sct ID:58558003 Hyperlysinemia (disorder)	Hyper LYS	LA12501-5
Girate atrophy of the retina Copyright http://snomed.info/sct ID:314467007 Gyrate atrophy (disorder)	Hyper ORN	LA12502-3
Valinemia Copyright http://snomed.info/sct ID:47719001 Hypervalinemia (disorder)	Hyper VAL	LA12503-1
Isobutyrylglycinuria Copyright http://snomed.info/sct ID:445571008 Isobutyrylglycinuria (disorder)	IBG	LA12504-9
Isovaleric acidemia Copyright http://snomed.info/sct ID:87827003 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder)	IVA	LA12505-6
Primary lactic acidemia Copyright http://snomed.info/sct ID:190882007 Lactic acidemia (disorder)	LACTIC	LA12506-4
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:307127004 Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder)	LCHAD	LA12507-2
Malonic acidemia Copyright http://snomed.info/sct ID:124594007 Deficiency of malonyl-coenzyme A decarboxylase (disorder)	MAL	LA12508-0
Medium-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder)	MCAD	LA12509-8
Holoocarboxylase synthase deficiency Copyright http://snomed.info/sct ID:360369003 Holocarboxylase synthase deficiency (disorder)	MCD	LA12510-6
Medium-chain ketoacyl-CoA thiolase deficiency Copyright http://snomed.info/sct ID:124265004 Deficiency of acetyl-coenzyme A acyltransferase (disorder)	MCKAT	LA12511-4
Hypermethioninemia Copyright http://snomed.info/sct ID:43123004 Hypermethioninemia (disorder)	MET	LA12512-2
Maple syrup urine disease Copyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder)	MSUD	LA21168-2
Methylene tetrahydrofolate reductase deficiency Copyright http://snomed.info/sct ID:41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder)	MTHFR	LA12514-8
Methylmalonic acidemia Copyright http://snomed.info/sct ID:124680001 Deficiency of methylmalonyl-coenzyme A mutase (disorder)	MUT	LA12515-5
Nonketotic hyperglycinemia (glycine encephalopathy) Copyright http://snomed.info/sct ID:237939006 Non-ketotic hyperglycinemia (disorder)	NKHG	LA12516-3
Hydroxyprolinemia Copyright http://snomed.info/sct ID:25739007 Hyperhydroxyprolinemia (disorder)	OH PRO	LA12517-1
Ornithine transcarbamylase deficiency Copyright http://snomed.info/sct ID:80908008 Ornithine carbamoyltransferase deficiency (disorder)	OTC	LA12518-9
Pyruvate carboxylase deficiency Copyright http://snomed.info/sct ID:87694001 Pyruvate carboxylase deficiency (disorder)	PC	LA12519-7
Classic phenylketonuria Copyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder)	PKU	LA12520-5
Hyperprolinemia type I Copyright http://snomed.info/sct ID:61071003 Proline dehydrogenase deficiency (disorder)	PRO I	LA12521-3
Hyperprolinemia type II Copyright http://snomed.info/sct ID:717181004 Hyperprolinemia type 2 (disorder)	PRO II	LA12522-1
Propionic acidemia Copyright http://snomed.info/sct ID:69080001 Propionic acidemia (disorder)	PROP	LA12523-9
Short-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:124166007 Deficiency of butyryl-CoA dehydrogenase (disorder)	SCAD	LA12524-7
Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237998000 Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)	SCHAD	LA12525-4
Succinyl-CoA ligase deficiency Copyright http://snomed.info/sct ID:445275003 Deficiency of succinate-coenzyme A ligase (disorder)	SUCLA2	LA12526-2
Trifunctional protein deficiency Copyright http://snomed.info/sct ID:237999008 Mitochondrial trifunctional protein deficiency (disorder)	TFP	LA12527-0
Tyrosinemia, type I Copyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder)	TYR-I	LA12528-8
Tyrosinemia, type II Copyright http://snomed.info/sct ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder)	TYR-II	LA12529-6
Tyrosinemia, type III Copyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder)	TYR-III	LA12530-4
Very long-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237997005 Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder)	VLCAD	LA12531-2
Biotinidase deficiency Copyright http://snomed.info/sct ID:8808004 Biotinidase deficiency (disorder)	BIO	LA12532-0
Congenital adrenal hyperplasia Copyright http://snomed.info/sct ID:237751000 Congenital adrenal hyperplasia (disorder)	CAH	LA12533-8
Cystic fibrosis Copyright http://snomed.info/sct ID:190905008 Cystic fibrosis (disorder)	CF	LA22202-8
Primary congenital hypothyroidism Copyright http://snomed.info/sct ID:190268003 Congenital hypothyroidism (disorder)	CH	LA12538-7
Secondary congenital hypothyroidism Copyright http://snomed.info/sct ID:82598004 Secondary hypothyroidism (disorder)	CH2	LA12539-5
Glucose-6-phosphate dehydrogenase deficiency Copyright http://snomed.info/sct ID:124134002 Deficiency of glucose-6-phosphate dehydrogenase (disorder)	G6PD	LA12540-3
Galactoepimerase deficiency Copyright http://snomed.info/sct ID:8849004 Uridine diphosphate glucose-4-epimerase deficiency (disorder)	GALE	LA12541-1
Galactokinase deficiency Copyright http://snomed.info/sct ID:124302001 Deficiency of galactokinase (disorder)	GALT	LA12542-9
Classical galactosemia	GALT	LA21165-8
Hb C-carrier Copyright http://snomed.info/sct ID:76050008 Hemoglobin C trait (disorder)		LA12602-1
Hb D-carrier Copyright http://snomed.info/sct ID:7391009 Hemoglobin D trait (disorder)		LA12603-9
Hb E-carrier Copyright http://snomed.info/sct ID:46248003 Hemoglobin E trait (disorder)		LA12604-7
Hb O-Arab carrier		LA12605-4
Hb S (sickle)-carrier Copyright http://snomed.info/sct ID:16402000 Sickle cell trait (disorder)		LA12606-2
Hb C-disease Copyright http://snomed.info/sct ID:51053007 Hemoglobin C disease (disorder)		LA12607-0
Hb C beta-thalassemia Copyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder)		LA12608-8
Hb D-disease		LA12609-6
Hb D beta-thalassemia Copyright http://snomed.info/sct ID:119701000119106 Hemoglobin D/beta thalassemia disease (disorder)		LA12610-4
Hb beta zero-thalassemia Copyright http://snomed.info/sct ID:86715000 Beta zero thalassemia (disorder)		LA12611-2
Hb E-disease Copyright http://snomed.info/sct ID:25065001 Hemoglobin E disease (disorder)		LA12612-0
Hb E beta-thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder)		LA12613-8
Hb SS-disease (sickle cell anemia) Copyright http://snomed.info/sct ID:127040003 Sickle cell-hemoglobin SS disease (disorder)		LA12614-6
Hb S beta-thalassemia Copyright http://snomed.info/sct ID:127041004 Sickle cell-beta-thalassemia (disorder)		LA12615-3
Hb SC-disease Copyright http://snomed.info/sct ID:35434009 Sickle cell-hemoglobin C disease (disorder)		LA12616-1
Hb SD-disease Copyright http://snomed.info/sct ID:25472008 Sickle cell-hemoglobin D disease (disorder)		LA12617-9
Hb SE-disease Copyright http://snomed.info/sct ID:47024008 Sickle cell-hemoglobin E disease (disorder)		LA12618-7
Hb S O-Arab disease Copyright http://snomed.info/sct ID:127048005 Sickle cell-Hemoglobin O Arab disease (disorder)		LA12619-5
Hb S plus Hb other than A,C,D,E,O-Arab disease Copyright http://snomed.info/sct ID:23269001 Double heterozygous sickling disorder (disorder)		LA12620-3
Hb disease other than A, C, D, E, H,O-Arab, S Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder)		LA12621-1
Hb carrier other than C, D, E, S ,O-Arab		LA12622-9
Congenital HIV Copyright http://snomed.info/sct ID:52079000 Congenital human immunodeficiency virus infection (disorder)	HIV	LA12565-0
Severe combined immunodeficiency Copyright http://snomed.info/sct ID:31323000 Severe combined immunodeficiency disease (disorder)	SCID	LA12566-8
Thyroid-binding globulin deficiency Copyright http://snomed.info/sct ID:237544006 Thyroid-binding globulin deficiency (disorder)	TBG	LA12567-6
Congenital toxoplasmosis Copyright http://snomed.info/sct ID:73893000 Congenital toxoplasmosis (disorder)	TOXO	LA12568-4
Fabry disease Copyright http://snomed.info/sct ID:16652001 Fabry's disease (disorder)	GLA	LA14036-0
Pompe disease Copyright http://snomed.info/sct ID:274864009 Glycogen storage disease, type II (disorder)	GAA	LA14037-8
Krabbe disease Copyright http://snomed.info/sct ID:192782005 Galactosylceramide beta-galactosidase deficiency (disorder)	GALC	LA14038-6
Gaucher disease Copyright http://snomed.info/sct ID:190794006 Glucosylceramide beta-glucosidase deficiency (disorder)	GBA	LA14039-4
Niemann Pick disease A/B Copyright http://snomed.info/sct ID:58459009 Sphingomyelin/cholesterol lipidosis (disorder)	ASM	LA14040-2
Hb H-disease Copyright http://snomed.info/sct ID:48553001 Hemoglobin H disease (disorder)		LA16007-9
Hemoglobinopathies Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder)		LA16207-5
Critical congenital heart disease	CCHD	LA20349-9
X-linked adrenoleukodystrophy Copyright http://snomed.info/sct ID:65389002 Adrenoleukodystrophy (disorder)	X-ALD	LA25796-6
Mucopolysaccharidosis type I Copyright http://snomed.info/sct ID:75610003 Mucopolysaccharidosis type I (disorder)	MPS-I	LA25797-4
Guanidinoacetate N-methyltransferase deficiency Copyright http://snomed.info/sct ID:124239003 Deficiency of guanidinoacetate methyltransferase (disorder)	GAMT	LA30113-7
L-arginine:glycine amidinotransferase deficiency Copyright http://snomed.info/sct ID:702440000 Cerebral creatine deficiency syndrome 3 (disorder)	AGAT	LA30114-5
X-linked creatine transporter (CRTR) deficiency Copyright http://snomed.info/sct ID:698290008 X-linked creatine deficiency (disorder)	CRTR	LA30492-5
Spinal muscular atrophy Copyright http://snomed.info/sct ID:5262007 Spinal muscular atrophy (disorder)	SMA	LA22279-6

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Condiciones probadas en este estudio de cribado neonatal:Código identificador:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Condiciones examinadas en este estudio de detección de recién nacidos:Identificador:Punto temporal:DBS:Nominal:
fr-FR	French (France)	Conditions requises pour le dépistage néonatal:Identifiant:Ponctuel:Sang buvard:Résultat nominal:
it-IT	Italian (Italy)	Condizioni analizzate in questo studio di screening neonatale:ID:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Identificatore Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	geteste aandoeningen in dit pasgeborene screeningsonderzoek:identificator:moment:gedroogde bloedspot:nominaal:
pt-BR	Portuguese (Brazil)	Condições testadas no presente estudo de triagem neonatal:#N/A:Pt:SgPapel:Nom: Synonyms: ; Conditions tested for in this NBS study; Identifier; Ident; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; SCN; Asymptomatic; Asympt; New born; Chemistry
ru-RU	Russian (Russian Federation)	Состояния тестированные в данное новорождённый скрининг исследование:ID:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Идентификатор Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Koşullar yenidoğan tarama çalışmasında test edilen:Tnmlyc:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	这项新生儿筛查检查当中的试验所针对的情况:标识符:时间点:全血.斑点:名义型: Synonyms: Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验标识;身份标识符;身份标识检查分析研究;检查项目;调查;考察;研究项目;学习筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验考察血;血液调查这项新生儿（NB）筛查（筛选、过筛、筛检）检查当中的试验所针对的健康状况;此项新生儿筛查检查当中的试验所针对的情况;此该新生儿筛查当中的试验所针对的情况

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69969-4 Newborn screening report overall laboratory comment

Term Description

The use of ZNB or NTE segments for report boilerplate information, such as the list of conditions tested, is not recommended because receiving organizations may not know how to process the data. This LOINC code for Newborn Screening Report Overall Laboratory Comment enables sending this data in an OBX segment. If you send a list of conditions tested or another list, we suggest you use semicolons instead of commas to separate conditions in a list to avoid problems if the condition names contain commas.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component: Newborn screening report overall laboratory comment
Property: Txt
Time: Pt
System: ^Patient
Scale: Nar
Method

Additional Names

Short Name: NBS report overall lab comment
Display Name: NBS report overall laboratory comment Nar
Consumer Name Alpha Get Info: NBS report overall laboratory comment

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.40
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 13235

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Informe de evaluación del recién nacido comentario general laboratorio:Texto:Punto temporal:^paciente:Narrativo:
es-MX	Spanish (Mexico)	Informe de cribado neonatal comentario general de laboratorio:Texto:Punto temporal:^ Paciente:Narrativo:
fr-FR	French (France)	Compte rendu dépistage néonatal - Commentaire:Texte:Ponctuel:Patient:Résultat textuel:
it-IT	Italian (Italy)	Screening neonatale, referto di commento complessivo risultati di laboratorio:Txt:Pt:^Paziente:Nar: Synonyms: Chimica Commento di laboratorio paziente Punto nel tempo (episodio) Referto Testo
nl-NL	Dutch (Netherlands)	pasgeborene screening rapport overall laboratoriumopmerkingen:tekst:moment:^patiënt:tekstueel:
ru-RU	Russian (Russian Federation)	Новорождённых скрининг отчёт полный лаборатории комментарий:Txt:ТчкВрм:^Пациент:Опис: Synonyms: Описательный Текст Точка во времени;Момент
tr-TR	Turkish (Turkey)	Yenidoğan tarama raporu genel laboratuvar önerisi:Metin:Zmlı:^Hasta:Öykü:
zh-CN	Chinese (China)	新生儿筛查报告总体实验室注释:文本型属性:时间点:^患者:叙述型: Synonyms: Asympt SCN 全面;整体;总体情况化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医疗服务对象;客户;病人;病患;病号;超系统 - 病人叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型备注备注;评论;注解;说明;评语实验室（检验科、检验室、化验室）注释（备注、注解、评论、说明、意见）意见报道;汇报;调查报告;报表;报导文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）报告总体实验室注释（备注、注解、评论说明、意见）;新生儿筛查报告总体实验室备注;新生儿筛查报告总体实验室评论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验检验科;化验室;化验科注解短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验解说解释评定评注评论评语说明

57717-1 Newborn screen card data panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Newborn screen card data panel
Property: -
Time: Pt
System: Bld.dot
Scale: -
Method

Additional Names

Short Name: NBS card data pnl
Display Name: NBS card data panel (DBS)
Consumer Name Alpha Get Info: NBS card data panel, Dried blood spot

Basic Attributes

Class: PANEL.CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.77
Order vs. Observation: Order
Panel Type: Organizer

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Panel de datos de la tarjeta de pantalla para recién nacidos:-:Punto temporal:DBS:-:
es-ES	Spanish (Spain)	Panel de cribado de tarjeta de datos del recién nacido:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
fr-BE	French (Belgium)	Newborn screen card data panel:-:Temps ponctuel:Sang sur papier filtre:-:
fr-FR	French (France)	Dépistage néonatal - carte panel:-:Ponctuel:Sang buvard:-:
it-IT	Italian (Italy)	Screening neonatale, panel scheda dati:-:Pt:Sangue.su carta da filtro:-: Synonyms: Chimica Panel scheda dati di screening neonatale Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL	Dutch (Netherlands)	pasgeborene screening card data panel:-:moment:gedroogde bloedspot:-:
pt-BR	Portuguese (Brazil)	Recém-nascido quadro cartão painel de dados:#N/A:Pt:SgPapel:-: Synonyms: ; NBS card data pnl; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Scr; Scn; Scrn; Pnl; Pan; Panl; New born; PANEL.CHEMISTRY; PANEL.CHEMISTRY; Chemistry
ru-RU	Russian (Russian Federation)	Новорождённый скрин карта данные панель:-:ТчкВрм:Кр.Сух.капл:-: Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN	Chinese (China)	新生儿筛查卡数据组套:-:时间点:全血.斑点:-: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类新生儿筛查卡数据组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;新生儿筛查卡片数据医嘱组;新生儿筛查卡资料医嘱组时刻;随机;随意;瞬间检验医嘱组合类检验项目医嘱组合类检验项目组合类筛查筛查试验筛选试验组组合组合医嘱组合类组套血;血液过筛过筛试验

57716-3 State printed on filter paper card [Identifier] in NBS card

Term Description

This is the state pre-printed on the NBS card
Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component: State printed on filter paper card
Property: ID
Time: Pt
System: NBS card
Scale: Nom
Method

Additional Names

Short Name: State printed on card NBS card
Display Name: State printed on filter paper card Nom (NBS card) [ID]
Consumer Name Alpha Get Info: State printed on filter paper card, NBS Card

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 19647

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Estado impreso en tarjeta de papel de filtro:Identificador:Punto temporal:Tarjeta NBS:Nominal:
es-ES	Spanish (Spain)	Estado de origen:Código identificador:Punto temporal:Tarjeta NBS:Nom:
fr-FR	French (France)	État imprimé carte filtre:Identifiant:Ponctuel:Carte d'identité:Résultat nominal:
it-IT	Italian (Italy)	Stato di origine:ID:Pt:NBS, gene:Nom: Synonyms: Chimica Gene NBS Identificatore Punto nel tempo (episodio)
nl-NL	Dutch (Netherlands)	gesteldheid afgedrukt op filtreerpapierkaartje:identificator:moment:NBS kaart:nominaal:
pt-BR	Portuguese (Brazil)	Estado de origem:#N/A:Pt:Cartão NBS:Nom: Synonyms: Identifier; Ident; Point in time; Random; Nominal; Chemistry
ru-RU	Russian (Russian Federation)	Штат, напечатанный на фильтрующей бумажной карте:ID:ТчкВрм:NBS карта:Ном: Synonyms: Идентификатор Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Filtre kağıdına basılmış durum:Tnmlyc:Zmlı:YenidoğanKart:Snf: Synonyms: Yeni doğan tarama kartı
zh-CN	Chinese (China)	印刷在滤纸卡片上的州名:标识符:时间点:新生儿筛查卡:名义型: Synonyms: 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类印刷在滤纸卡片上的州;印刷在滤纸卡上的州名;滤纸卡上印刷的州名州;邦;政府;国家;状况;情况新生儿筛查卡片;NBS card;Newborn screen card 时刻;随机;随意;瞬间标识;身份标识符;身份标识纸张

79566-6 Collection method - DBS

Term Description

The method used to collect a dried blood spot specimen, typically for newborn screening.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component: Collection method
Property: Type
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: Collection method DBS
Display Name: Collection method Nom (DBS)
Consumer Name Alpha Get Info: Collection method, Dried blood spot

Basic Attributes

Class: SPEC
Type: Laboratory
First Released: Version 2.54
Last Updated: Version 2.61
Order vs. Observation: Observation

Preferred Answer List LL3860-5

Answer	Code	Score	Answer ID
Heel stick			LA25402-1
Capillary tube			LA25403-9
Line draw			LA25404-7
Other			LA46-8
Unknown Copyright http://snomed.info/sct ID:261665006 Unknown (qualifier value)			LA4489-6

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Método de recolección:Tipo:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Método de recolección:Tipo:Punto temporal:DBS:Nominal:
et-EE	Estonian (Estonia)	Kogumise meetod:Tüüp:Pt:Vereplekk:Nom: Synonyms: Juhuslik Veri
fr-CA	French (Canada)	Méthode de prélèvement:Type:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-FR	French (France)	Méthode du recueil:Type:Ponctuel:Sang buvard:Résultat nominal:
fr-BE	French (Belgium)	Méthode de prélèvement:Type:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Raccolta, metodo:Tipo:Pt:Sangue.su carta da filtro:Nom: Synonyms: Caratteristiche campione Metodo di collezionamento Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	verzamelmethode:type:moment:gedroogde bloedspot:nominaal:
ru-RU	Russian (Russian Federation)	Изъятия метод:Тип:ТчкВрм:Кр.Сух.капл:Ном: Synonyms: Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Toplama yöntemi:Tip:Zmlı:Kan.nokta:Snf: Synonyms: Tür
zh-CN	Chinese (China)	采集方法:类型:时间点:全血.斑点:名义型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答型收集收集方法方;法;办法;方式时刻;随机;随意;瞬间标本;标本信息;标本类血;血液采取

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

8339-4 Birthweight

Observation Required in Panel

Required

Fully-Specified Name

Component: Body weight^at birth
Property: Mass
Time: Pt
System: ^Patient
Scale: Qn
Method: Measured

Additional Names

Short Name: Birth weight Measured
Consumer Name Alpha Get Info: Birth Weight

Basic Attributes

Class: BDYWGT.MOLEC
Type: Clinical
First Released: Version 1.0h(2)
Last Updated: Version 2.73
Common Test Rank Get Info: 6750

Member of these Panels

LOINC	Long Common Name
39294-4	Children's preventive health services attachment Set
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)
86347-2	U.S. standard certificate of live birth - recommended 2003 revision set

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Körpergewicht^bei Geburt:Masse:Zeitpunkt:^Patient:Quantitativ:Gemessen
es-MX	Spanish (Mexico)	Peso corporal ^ al nacer:Masa:Punto temporal:^ Paciente:Cuantitativo:Measured
es-AR	Spanish (Argentina)	peso corporal^al nacimiento:masa:punto en el tiempo:^paciente:cuantitativo:medido
fr-FR	French (France)	Poids corporel à la naissance:Masse:Ponctuel:Patient:Numérique:Résultat mesuré
it-IT	Italian (Italy)	Peso corporeo^alla nascita:Massa:Pt:^Paziente:Qn:Misurato Synonyms: paziente Peso del corpo - molecolare Punto nel tempo (episodio)
nl-NL	Dutch (Netherlands)	lichaamsgewicht^bij geboorte:massa:moment:^patiënt:kwantitatief:meting
pt-BR	Portuguese (Brazil)	Peso corpóreo^no nascimento:Massa:Pt:^Paciente:Qn:Mensurado Synonyms: ; Wt; Bdy weight; @ birth; Newborn; New born; Point in time; Random; Quantitative; QNT; Quant; Quan; bod; Bodies; BODY WEIGHT.MOLEC; BODY WEIGHT.MOLEC
ru-RU	Russian (Russian Federation)	Масса тела^при рождении:Масса:ТчкВрм:^Пациент:Колич:Измеренный Synonyms: Количественный Точка во времени;Момент
zh-CN	Chinese (China)	体重^出生时:质量:时间点:^患者:定量型:测量法 Synonyms: 医疗服务对象;客户;病人;病患;病号;超系统 - 病人可用数量表示的;定量性;数值型;数量型;连续数值型标尺在出生时时刻;随机;随意;瞬间标本重量;重测定法;量度法;量测法物体特殊体重;特殊身体重量;身体重量.分子型身体重量重量

Example Units

Unit	Source
[lb_av];kg;g	Example UCUM Units
lb	REGENSTRIEF

Related Codes

Code System	Code	Code Text
https://www.phenxtoolkit.org	PX020201010100	PX020201_Medical_Record_Birthweight_Gram
https://www.phenxtoolkit.org	PX020201010200	PX020201_Medical_Record_Birthweight_Pound
https://www.phenxtoolkit.org	PX020201010300	PX020201_Medical_Record_Birthweight_Ounce
https://www.phenxtoolkit.org	PX221201070000	PX221201_Growth_Chart_Birth_Weight

58229-6 Body weight Measured --when specimen taken

Term Description

requested as option in new born screening for interpretation of NBS results which may vary with infants weight at the time of the specimen which might be different enough from birth weight to be important.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component: Body weight^when specimen taken
Property: Mass
Time: Pt
System: ^Patient
Scale: Qn
Method: Measured

Additional Names

Short Name: Weight when spec taken Measured
Consumer Name Alpha Get Info: Body weight When specimen Taken, Measured

Basic Attributes

Class: CLIN
Type: Clinical
First Released: Version 2.30
Last Updated: Version 2.70
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Peso corporal ^ cuando se toma la muestra:Masa:Punto temporal:^ Paciente:Cuantitativo:Measured
it-IT	Italian (Italy)	Peso corporeo^quando è prelevato il campione:Massa:Pt:^Paziente:Qn:Misurato Synonyms: Clinico paziente Punto nel tempo (episodio)
pt-BR	Portuguese (Brazil)	Peso corporal^quando a amostra é utilizada:#N/A:Pt:^Paciente:Qn:Mensurado Synonyms: ; Wt; Bdy weight; when spec taken; Point in time; Random; Quantitative; QNT; Quant; Quan; Spec; bod; Bodies
ru-RU	Russian (Russian Federation)	Масса тела^когда образец изъят:Масса:ТчкВрм:^Пациент:Колич:Измеренный Synonyms: Количественный Точка во времени;Момент
zh-CN	Chinese (China)	体重^采集标本时:质量:时间点:^患者:定量型:测量法 Synonyms: 医疗服务对象;客户;病人;病患;病号;超系统 - 病人受检物可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间标本重量;重样品样本测定法;量度法;量测法物体试样身体重量采集标本的时候;采取标本时;获取标本时;取标本时;采样时重量

Example Units

Unit	Source
[lb_av];kg	Example UCUM Units

57715-5 Time of birth

Observation Required in Panel

Required

Fully-Specified Name

Component: Birth time
Property: ClockTime
Time: Pt
System: ^Patient
Scale: Qn
Method

Additional Names

Short Name: Birth time

Basic Attributes

Class: H&P.HX
Type: Clinical
First Released: Version 2.29
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 4314

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)
75854-0	PCORnet common data model set - version 1.0 [PCORnet]
85057-8	PCORnet Common Data Model set - version 3.0 [PCORnet]

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Hora de nacimiento:Hora del reloj:Punto temporal:^ Paciente:Cuantitativo:
it-IT	Italian (Italy)	Nascita, ora:ClockTime:Pt:^Paziente:Qn: Synonyms: Anamnesi Ora Ora di nascita paziente Punto nel tempo (episodio)
pt-BR	Portuguese (Brazil)	Tempo de Nascimento:Tempo:Pt:^Paciente:Qn: Synonyms: Point in time; Random; Quantitative; QNT; Quant; Quan
ru-RU	Russian (Russian Federation)	Рождение время:ClockTime:ТчкВрм:^Пациент:Колич: Synonyms: Время рождения Время, измеренное при помощи хронометра (часов) Количественный Точка во времени;Момент
zh-CN	Chinese (China)	出生时间:时钟时间:时间点:^患者:定量型: Synonyms: 医疗服务对象;客户;病人;病患;病号;超系统 - 病人历史纪录与体格检查历史纪录与体格检查.历史记录;历史纪录与体格检查.历史记录类;历史纪录与体格检查.历史记录类别;历史纪录与体格检查.病史;历史纪录与体格检查.病史类;历史纪录与体格检查.病史类别;历史纪录与体格检查.病史记录;历史纪录与体格检查.病史记录类;历史纪录与体格检查.病史记录类别;历史纪录与体格检查小节.历史记录;历史纪录与体格检查小节.历史记录类;历史纪录与体格检查小节.历史记录类别;历史纪录与体格检查小节.病史;历史纪录与体格检查小节.病史类;历史纪录与体格检查小节.病史类别历史纪录与体格检查小节可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间时间(如秒);时间(如秒数) 病史与体格检查钟表时间

Example Units

Unit	Source
{clock_time}	Example UCUM Units

73806-2 Newborn age in hours

Term Description

Age of the newborn reported in hours.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component: Newborn age in hours
Property: Time
Time: Pt
System: ^Patient
Scale: Qn
Method

Additional Names

Short Name: Nwbrn age hours

Basic Attributes

Class: H&P.PX
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.52
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Edad del recién nacido en horas:Tiempo:Punto temporal:^ Paciente:Cuantitativo:
it-IT	Italian (Italy)	Neonato, età in ore:Tempo:Pt:^Paziente:Qn: Synonyms: Esame obbiettivo Età in ore del neonato paziente Punto nel tempo (episodio) Tempo (e.g. secondi)
ru-RU	Russian (Russian Federation)	Новорождённый возраст в часах:Время:ТчкВрм:^Пациент:Колич: Synonyms: Время (в т.ч. в секундах) Количественный Точка во времени;Момент
zh-CN	Chinese (China)	按小时数计算的新生儿年龄:时间:时间点:^患者:定量型: Synonyms: 体格检查小节与指标;体格检查小节与测量指标;历史纪录与体格检查.体格检查小节与指标;历史纪录与体格检查.体格检查小节与测量指标;历史纪录与体格检查小节.体格检查小节与指标;历史纪录与体格检查小节.体格检查小节与测量指标;病史与体格检查.体格检查小节与指标;病史与体格检查.体格检查小节与测量指标;病史与体格检查小节.体格检查小节与指标医疗服务对象;客户;病人;病患;病号;超系统 - 病人历史纪录与体格检查历史纪录与体格检查小节可用数量表示的;定量性;数值型;数量型;连续数值型标尺新生儿年龄小时数;小时数新生儿年龄时刻;随机;随意;瞬间时间(如秒);时间(如秒数) 病史与体格检查

Example Units

Unit	Source
h	Example UCUM Units

57722-1 Birth plurality of Pregnancy

Term Description

The number of fetuses delivered live or dead at any time in the pregnancy regardless of gestational age or if the fetuses were delivered at different dates in the pregnancy.
Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component: Birth plurality
Property: Num
Time: Pt
System: Pregnancy
Scale: Ord
Method

Additional Names

Short Name: Birth plurality

Basic Attributes

Class: H&P.PX
Type: Clinical
First Released: Version 2.29
Last Updated: Version 2.73
Common Test Rank Get Info: 10871

Normative Answer List LL829-3

Answer	Code	Answer ID
1	1	LA6112-2
2	2	LA6113-0
3	3	LA6114-8
4	4	LA6115-5
5	5	LA10137-0
6	6	LA10138-8
7	7	LA10139-6
8	8	LA10140-4
9	9	LA10141-2
10	10	LA13942-0
11	11	LA14557-5
12	12	LA14558-3
Unknown plurality	99	LA12914-0

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)
86347-2	U.S. standard certificate of live birth - recommended 2003 revision set
86346-4	U.S. standard report of fetal death - recommended 2003 revision set

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Pluralidad de nacimiento:Num:Punto temporal:El embarazo:Ordinal:
it-IT	Italian (Italy)	Nascita, pluralità:Num:Pt:Gravidanza:Ord: Synonyms: Esame obbiettivo Numero (conta) Pluralità di nascita Punto nel tempo (episodio)
pt-BR	Portuguese (Brazil)	Nascimentos múltiplos:#N/A:Pt:Gravidez:Ord: Synonyms: Birth pleurality; Number; Count; Cnt; Point in time; Random; Ql; Ordinal; QL; Qualitative; Qual; Screen
ru-RU	Russian (Russian Federation)	Рождение множественность:Кол:ТчкВрм:Беременность:Пор: Synonyms: Количество Порядковый Точка во времени;Момент
zh-CN	Chinese (China)	出生胎儿数量:数量(计数):时间点:妊娠:序数型: Synonyms: 个数;数量;数量或计数（非负整数）;计数体格检查小节与指标;体格检查小节与测量指标;历史纪录与体格检查.体格检查小节与指标;历史纪录与体格检查.体格检查小节与测量指标;历史纪录与体格检查小节.体格检查小节与指标;历史纪录与体格检查小节.体格检查小节与测量指标;病史与体格检查.体格检查小节与指标;病史与体格检查.体格检查小节与测量指标;病史与体格检查小节.体格检查小节与指标依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型出生胎数;出生胞胎数;出生胎儿数历史纪录与体格检查历史纪录与体格检查小节怀孕;怀孕期;妊娠期时刻;随机;随意;瞬间病史与体格检查

57714-8 Obstetric estimation of gestational age

Term Description

The obstetric estimate of the infant's gestation in completed weeks based on the birth attendant's final estimate of gestation which should be determined by all perinatal factors and assessments such as ultrasound, but not the neonatal exam.
Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component: Obstetric estimation of gestational age
Property: Time
Time: Pt
System: ^Patient
Scale: Qn
Method

Additional Names

Short Name: OB est of GA

Basic Attributes

Class: H&P.HX
Type: Clinical
First Released: Version 2.29
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 15375

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Member of these Groups Get Info

LOINC Group	Group Name
LG50113-6	Gestational ageTime^Patient

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Estimación obstétrica de la edad gestacional:Tiempo:Punto temporal:^ Paciente:Cuantitativo:
it-IT	Italian (Italy)	Stima ostetrica di età gestazionale:Tempo:Pt:^Paziente:Qn: Synonyms: Anamnesi paziente Punto nel tempo (episodio) Tempo (e.g. secondi)
pt-BR	Portuguese (Brazil)	Estimativa obstétrica da idade gestacional:Tempo:Pt:^Paciente:Qn: Synonyms: ; OB est of GA; Point in time; Random; Quantitative; QNT; Quant; Quan; Gest; Gestation; Prenatal; Obstetrics
ru-RU	Russian (Russian Federation)	Акушерская оценка гестационный возраст:Время:ТчкВрм:^Пациент:Колич: Synonyms: Время (в т.ч. в секундах) Гестационный срок Количественный Точка во времени;Момент
zh-CN	Chinese (China)	孕龄的产科学估计:时间:时间点:^患者:定量型: Synonyms: 医疗服务对象;客户;病人;病患;病号;超系统 - 病人历史纪录与体格检查历史纪录与体格检查.历史记录;历史纪录与体格检查.历史记录类;历史纪录与体格检查.历史记录类别;历史纪录与体格检查.病史;历史纪录与体格检查.病史类;历史纪录与体格检查.病史类别;历史纪录与体格检查.病史记录;历史纪录与体格检查.病史记录类;历史纪录与体格检查.病史记录类别;历史纪录与体格检查小节.历史记录;历史纪录与体格检查小节.历史记录类;历史纪录与体格检查小节.历史记录类别;历史纪录与体格检查小节.病史;历史纪录与体格检查小节.病史类;历史纪录与体格检查小节.病史类别历史纪录与体格检查小节受孕受孕期受孕期的受孕的可用数量表示的;定量性;数值型;数量型;连续数值型标尺妊娠妊娠期的妊娠的孕龄的产科估计;产科学孕龄估计;产科孕龄估计怀卵怀卵期怀卵期的怀卵的怀孕怀孕期怀孕期的怀孕的时刻;随机;随意;瞬间时间(如秒);时间(如秒数) 病史与体格检查胎龄;Gestational Age;GA

Example Units

Unit	Source
wk	Example UCUM Units

57713-0 Infant factors that affect newborn screening interpretation

Term Description

Use this term to record various infant factors (also known as events), including treatments or conditions, that occur prior to collection of the newborn screening (NBS) specimen, and can affect the interpretation of NBS results. Select any answers that apply; you can select more than one answer. If you select "other," use the additional narrative LOINC code for "Other infant factors that affect newborn screening interpretation" to give additional details. Select the answer "Infant in ICU at time of specimen collection" if the infant was in an intensive care unit, neonatal intensive care unit (NICU) or special care baby unit (SCBU). ECMO (extra corporeal membrane oxygenation, aka heart-lung bypass) can affect NBS results for hemoglobinopathies and GALT. Dopamine can affect NBS results for TSH. Steroid treatment can affect NBS results for TSH and 17-OHP. Iodine can affect NBS results for TSH and T4. Antibiotics can affect NBS results for C5. Some anti-seizure medications can affect NBS results for fatty acids. In screening for cystic fibrosis (CF), those babies presenting with meconium ileus or other bowel obstruction often have falsely low IRT's, so some states when they have that information, skip the IRT and go directly to DNA for their screen. SOURCES: Newborn Screening Guidelines for Preterm, Low Birth Weight, and Sick Newborns; Approved Guideline. CLSI document I/LA31-A. Wayne, PA: Clinical and Laboratory Standards Institute; (2009). LABORATORY MEDICINE PRACTICE GUIDELINES: FOLLOW-UP TESTING FOR METABOLIC DISEASES IDENTIFIED BY EXPANDED NEWBORN SCREENING USING TANDEM MASS SPECTROMETRY, The National Academy of Clinical Biochemistry, 2009 http://www.aacc.org/members/nacb/lmpg/onlineguide/publishedguidelines/newborn/pages/default.aspx. Utah Department of Health's "Newborn Screening For Sick or Preterm Newborns" Available at: http://health.utah.gov/newbornscreening/PDF/SupportProcScreeningSickPreterm.pdf.
Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component: Infant factors that affect newborn screening interpretation
Property: Find
Time: Pt
System: ^Patient
Scale: Nom
Method

Additional Names

Short Name: Inf factors affecting NBS imp

Basic Attributes

Class: H&P.HX
Type: Clinical
First Released: Version 2.29
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.; Removed "NICU" from Component based on recommendation from APHL NBS workgroup because this term could also be used for infants that are not in the NICU
Order vs. Observation: Observation
Common Test Rank Get Info: 18287

Preferred Answer List LL830-1

Answer	Code	Score	Answer ID
None Copyright http://snomed.info/sct ID:260413007 None (qualifier value)			LA137-2
Infant in NICU at time of specimen collection			LA12419-0
Infant in special care setting (other than ICU) at time of specimen collection			LA25801-4
Preterm/Low birth weight (LBW)			LA25802-2
Any blood product transfusion (including ECLS/ECMO)			LA12417-4
Dopamine Copyright http://snomed.info/sct ID:412383006 Dopamine (substance)			LA16923-7
Topical iodine			LA16924-5
Acute illness			LA25803-0
Hypothyroxinemia of preterm birth			LA25804-8
Significant hypoxia			LA25812-1
Immature hypothalamic/pituitary axis			LA25805-5
Immature liver enzymes			LA25806-3
Immature renal system			LA25807-1
Iodine deficiency			LA25809-7
Liver disease			LA25810-5
Other conditions, such as biliary atresia, intestinal perforation, abdominal wall defects, septicemia, CMV, renal failure, T21, T18, T13			LA25811-3
Parenteral steroid treatment			LA16925-2
Systemic antibiotics before newborn screening			LA12420-8
Meconium ileus or other bowel obstruction			LA16927-8
Thoracic surgery involving thymectomy			LA25815-4
Immunosuppressive therapy of baby or mother			LA25808-9
Total parenteral nutrition (TPN) or similar feeding			LA25816-2
Special lactose-free diet			LA25813-9
Special low protein diet			LA25814-7
Other			LA46-8

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Factores infantiles que afectan la interpretación del cribado neonatal:Tipo:Punto temporal:^ Paciente:Nominal:
it-IT	Italian (Italy)	Fattori di unità di cura infantile neonatale che influenzano interpretazione di screening neonatale:Osservazione:Pt:^Paziente:Nom: Synonyms: Anamnesi Osservazione paziente Punto nel tempo (episodio)
pt-BR	Portuguese (Brazil)	Os eventos clínicos que afetam a interpretação de triagem neonatal:Achado:Pt:^Paciente:Nom: Synonyms: Interp; Intrp; Interpret; Interpt; Clinical events that affect NBS interp; Finding; Findings; Point in time; Random; Nominal; SCN; Asymptomatic; Asympt; New born
ru-RU	Russian (Russian Federation)	Младенец NICU факторы, которые влияют на новорождённого скрининга интерпретацию:Находка:ТчкВрм:^Пациент:Ном: Synonyms: Номинальный;Именной Точка во времени;Момент
zh-CN	Chinese (China)	影响新生儿筛查解释的婴儿因素:发现:时间点:^患者:名义型: Synonyms: Asympt SCN 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答判读;解释说明;说明;释义;阐明医疗服务对象;客户;病人;病患;病号;超系统 - 病人历史纪录与体格检查历史纪录与体格检查.历史记录;历史纪录与体格检查.历史记录类;历史纪录与体格检查.历史记录类别;历史纪录与体格检查.病史;历史纪录与体格检查.病史类;历史纪录与体格检查.病史类别;历史纪录与体格检查.病史记录;历史纪录与体格检查.病史记录类;历史纪录与体格检查.病史记录类别;历史纪录与体格检查小节.历史记录;历史纪录与体格检查小节.历史记录类;历史纪录与体格检查小节.历史记录类别;历史纪录与体格检查小节.病史;历史纪录与体格检查小节.病史类;历史纪录与体格检查小节.病史类别历史纪录与体格检查小节发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论影响新生儿（NB）筛查（筛选、过筛、筛检）解释的婴儿NICU因素;影响新生儿筛查解释的婴幼儿NICU因素;neonatal intensive care unit;NICU;新生儿重症监护病房;新生儿重症监护单元无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验病史与体格检查筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验

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67703-9 Other infant factors that affect newborn screening interpretation Narrative

Condition for Inclusion

Use this term to give additional detail if you select answer "Other" (LA46-8) for Infant NICU factors that affect newborn screening interpretation (57713-0).

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Other infant factors that affect newborn screening interpretation
Property: Find
Time: Pt
System: ^Patient
Scale: Nar
Method

Additional Names

Short Name: Other Inf factors affecting NBS imp

Basic Attributes

Class: H&P.HX
Type: Clinical
First Released: Version 2.38
Last Updated: Version 2.58
Change Reason: Removed "NICU" from Component based on recommendation from APHL NBS workgroup because this term could also be used for infants that are not in the NICU
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Otros factores infantiles que afectan la interpretación del cribado neonatal:Tipo:Punto temporal:^ Paciente:Narrativo:
it-IT	Italian (Italy)	Altri fattori UTIN che influenzano interpretazione screening neonatale:Osservazione:Pt:^Paziente:Nar: Synonyms: Altri fattori di Unità di Terapia Intensiva Neonat Anamnesi Osservazione paziente Punto nel tempo (episodio)
ru-RU	Russian (Russian Federation)	Другие младенец NICU факторы, которые влияют на новорождённого скрининга интерпретацию:Находка:ТчкВрм:^Пациент:Опис: Synonyms: Описательный Точка во времени;Момент
zh-CN	Chinese (China)	影响新生儿筛查解释的其他婴儿因素:发现:时间点:^患者:叙述型: Synonyms: Asympt SCN 其他的其它其它的判读;解释说明;说明;释义;阐明别的医疗服务对象;客户;病人;病患;病号;超系统 - 病人历史纪录与体格检查历史纪录与体格检查.历史记录;历史纪录与体格检查.历史记录类;历史纪录与体格检查.历史记录类别;历史纪录与体格检查.病史;历史纪录与体格检查.病史类;历史纪录与体格检查.病史类别;历史纪录与体格检查.病史记录;历史纪录与体格检查.病史记录类;历史纪录与体格检查.病史记录类别;历史纪录与体格检查小节.历史记录;历史纪录与体格检查小节.历史记录类;历史纪录与体格检查小节.历史记录类别;历史纪录与体格检查小节.病史;历史纪录与体格检查小节.病史类;历史纪录与体格检查小节.病史类别历史纪录与体格检查小节发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型另外的影响新生儿（NB）筛查（筛选、过筛、筛检）解释的其他婴儿NICU因素;影响新生儿筛查解释的其他婴幼儿NICU因素;影响新生儿筛查解释的其它婴儿NICU因素;neonatal intensive care unit;NICU;新生儿重症监护病房;新生儿重症监护单元影响新生儿（NB）筛查（筛选、过筛、筛检）解释的婴儿NICU因素;影响新生儿筛查解释的婴幼儿NICU因素;neonatal intensive care unit;NICU;新生儿重症监护病房;新生儿重症监护单元无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验病史与体格检查筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验

67706-2 Maternal factors that affect newborn screening interpretation

Term Description

Use this term to record various maternal factors (also known as events), including treatments applied to the newborn's mother or conditions that affect the newborn's mother, that can affect the interpretation of NBS results. Select any answers that apply; you can select more than one answer. If you select "other," use the additional narrative LOINC code for "Other maternal factors that affect newborn screening interpretation" to give additional details. Thyroid treatments (PTU - propylthiouracil, methimazole (tapazole), and radioactive iodine (I-131)) can affect NBS results for T4 and TSH. Steroid treatment (prednisone, betamethasone, dexamethasone) can affect NBS results for 17-OHP. Fatty liver of pregnancy and HELLP syndrome can affect NBS results for acylcarnitines. TPN can affect NBS results for amino acids and fatty acids. PRBC (packed red blood cell) transfusion can affect NBS results for GALT and hemoglobin. SOURCES: Newborn Screening Guidelines for Preterm, Low Birth Weight, and Sick Newborns; Approved Guideline. CLSI document I/LA31-A. Wayne, PA: Clinical and Laboratory Standards Institute; (2009). LABORATORY MEDICINE PRACTICE GUIDELINES: FOLLOW-UP TESTING FOR METABOLIC DISEASES IDENTIFIED BY EXPANDED NEWBORN SCREENING USING TANDEM MASS SPECTROMETRY, The National Academy of Clinical Biochemistry, 2009 http://www.aacc.org/members/nacb/lmpg/onlineguide/publishedguidelines/newborn/pages/default.aspx. Utah Department of Health's "Newborn Screening For Sick or Preterm Newborns" Available at: http://health.utah.gov/newbornscreening/PDF/SupportProcScreeningSickPreterm.pdf.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component: Maternal factors that affect newborn screening interpretation
Property: Find
Time: Pt
System: ^Mother
Scale: Nom
Method

Additional Names

Short Name: Mat factors affecting NBS imp

Basic Attributes

Class: H&P.HX
Type: Clinical
First Released: Version 2.38
Last Updated: Version 2.56
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation

Preferred Answer List LL1736-9

Answer	Code	Score	Answer ID
None Copyright http://snomed.info/sct ID:260413007 None (qualifier value)			LA137-2
HELLP syndrome			LA16928-6
Fatty liver of pregnancy			LA16929-4
Packed red blood cell (PRBC) transfusion			LA16930-2
Steroid treatment			LA16931-0
Thyroid treatment (including propylthiouracil (PTU), methimazole (Tapazole), or past treatment with radioactive iodine (I-131))			LA16932-8
TPN			LA12418-2
Other			LA46-8

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Factores maternos que afectan la interpretación del cribado neonatal:Tipo:Punto temporal:^ Madre:Nominal:
it-IT	Italian (Italy)	Fattori materni che influenzano l'interpretazione di screening neonatale:Osservazione:Pt:^madre:Nom: Synonyms: Anamnesi Osservazione Punto nel tempo (episodio)
ru-RU	Russian (Russian Federation)	Мать факторы, которые влияют на новорождённый скрининг интерпретация:Находка:ТчкВрм:^Мать:Ном: Synonyms: Номинальный;Именной Точка во времени;Момент
zh-CN	Chinese (China)	影响新生儿筛查解释的产妇因素:发现:时间点:^母亲:名义型: Synonyms: Asympt SCN 产妇;孕妇;母性;母方;母系;超系统 - 母亲分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答判读;解释说明;说明;释义;阐明历史纪录与体格检查历史纪录与体格检查.历史记录;历史纪录与体格检查.历史记录类;历史纪录与体格检查.历史记录类别;历史纪录与体格检查.病史;历史纪录与体格检查.病史类;历史纪录与体格检查.病史类别;历史纪录与体格检查.病史记录;历史纪录与体格检查.病史记录类;历史纪录与体格检查.病史记录类别;历史纪录与体格检查小节.历史记录;历史纪录与体格检查小节.历史记录类;历史纪录与体格检查小节.历史记录类别;历史纪录与体格检查小节.病史;历史纪录与体格检查小节.病史类;历史纪录与体格检查小节.病史类别历史纪录与体格检查小节发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论影响新生儿（NB）筛查（筛选、过筛、筛检）解释的母亲（孕妇、产妇、孕产妇）因素无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验病史与体格检查筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

67707-0 Other maternal factors that affect newborn screening interpretation Narrative

Condition for Inclusion

Use this term to give additional detail if you select answer "Other" (LA46-8) for Maternal factors that affect newborn screening interpretation (67706-2).

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Other maternal factors that affect newborn screening interpretation
Property: Find
Time: Pt
System: ^Mother
Scale: Nar
Method

Additional Names

Short Name: Other mat factors affecting NBS imp

Basic Attributes

Class: H&P.HX
Type: Clinical
First Released: Version 2.38
Last Updated: Version 2.48
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Otros factores maternos que afectan la interpretación del cribado neonatal:Tipo:Punto temporal:^ Madre:Narrativo:
it-IT	Italian (Italy)	Altri fattori materni che influenzano interpretazione screening neonatale:Osservazione:Pt:^madre:Nar: Synonyms: Altri fattori materni che influenzano l''interpret Anamnesi Osservazione Punto nel tempo (episodio)
ru-RU	Russian (Russian Federation)	Другие мать факторы, которые влияют на новорождённый скрининг интерпретация:Находка:ТчкВрм:^Мать:Опис: Synonyms: Описательный Точка во времени;Момент
zh-CN	Chinese (China)	影响新生儿筛查解释的其他产妇因素:发现:时间点:^母亲:叙述型: Synonyms: Asympt SCN 产妇;孕妇;母性;母方;母系;超系统 - 母亲其他的其它其它的判读;解释说明;说明;释义;阐明别的历史纪录与体格检查历史纪录与体格检查.历史记录;历史纪录与体格检查.历史记录类;历史纪录与体格检查.历史记录类别;历史纪录与体格检查.病史;历史纪录与体格检查.病史类;历史纪录与体格检查.病史类别;历史纪录与体格检查.病史记录;历史纪录与体格检查.病史记录类;历史纪录与体格检查.病史记录类别;历史纪录与体格检查小节.历史记录;历史纪录与体格检查小节.历史记录类;历史纪录与体格检查小节.历史记录类别;历史纪录与体格检查小节.病史;历史纪录与体格检查小节.病史类;历史纪录与体格检查小节.病史类别历史纪录与体格检查小节发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型另外的影响新生儿（NB）筛查（筛选、过筛、筛检）解释的其它产妇因素影响新生儿（NB）筛查（筛选、过筛、筛检）解释的母亲（孕妇、产妇、孕产妇）因素无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验病史与体格检查筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验

77739-1 Mother's Hepatitis B virus surface Ag status

Term Description

This term should be used to report the birth mother's Hepatitis B surface antigen status.
Source: Regenstrief LOINC

Part Descriptions

LP14820-2 Hepatitis B virus surface
The hepatitis B surface antigen (HBsAg) is most frequently used to screen for the presence of this infection. It is the first detectable viral antigen to appear during infection. However, early in an infection, this antigen may not be present and it may be undetectable later in the infection as it is being cleared by the host. The infectious virion contains an inner "core particle" enclosing viral genome. The icosahedral core particle is made of 180 or 240 copies of core protein, alternatively known as hepatitis B core antigen, or HBcAg. During this 'window' in which the host remains infected but is successfully clearing the virus, IgM antibodies to the hepatitis B core antigen (anti-HBc IgM) may be the only serological evidence of disease. Therefore most hepatitis B diagnostic panels contain HBsAg and total anti-HBc(both IgM and IgG). Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Hepatitis B Virus

Condition for Inclusion

This term should be used in the context of the card data panel if maternal Hep B surface Ag result is included on the DBS card

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Hepatitis B virus surface Ag
Property: PrThr
Time: Pt
System: ^Mother
Scale: Ord
Method

Additional Names

Short Name: Mother's HBV surface Ag Ql
Display Name: HBV surface Ag Ql (Mother)
Consumer Name Alpha Get Info: Hepatitis B virus (HBV) Surface antigen, Mother

Basic Attributes

Class: MICRO
Type: Laboratory
First Released: Version 2.52
Last Updated: Version 2.56
Change Reason: The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation: Both

Preferred Answer List LL3639-3

Answer	Code	Score	Answer ID
Positive Copyright http://snomed.info/sct ID:10828004 Positive (qualifier value)			LA6576-8
Negative Copyright http://snomed.info/sct ID:260385009 Negative (qualifier value)			LA6577-6
Not tested			LA13538-6
Unknown Copyright http://snomed.info/sct ID:261665006 Unknown (qualifier value)			LA4489-6

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Member of these Groups Get Info

LOINC Group	Group Name
LG32752-4	Hepatitis B virus

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Hepatitis-B-Virus-surface Ag:Nachweis oder Schwellenwert:Zeitpunkt:^Mutter:Ordinal: Synonyms: HBsAg
es-ES	Spanish (Spain)	Antígeno de superficie virus Hepatitis B Antígeno:PrThr:Punto temporal:^Madre:Ord:
es-MX	Spanish (Mexico)	Ag de superficie del virus de la hepatitis B:Presencia o umbral:Punto temporal:^ Madre:Ordinal:
fr-FR	French (France)	Hépatite B virus surface Ag:Présence/Seuil:Ponctuel:Mère:Qualitatif:
it-IT	Italian (Italy)	Epatite B virus, superficie , Ag:PrThr:Pt:^madre:Ord: Synonyms: HBV Microbiologia Presenza o Soglia Punto nel tempo (episodio) Superficie del virus dell''epatite B
nl-NL	Dutch (Netherlands)	Hepatitis B-virusoppervlakte Ag:aanwezigheid:moment:^moeder:ordinaal: Synonyms: antigeen
pl-PL	Polish (Poland)	Powierzchnia wirusa zapalenia wątroby typu B Ag:granica wykrywalności:punkt w czasie:^matka:półilościowy: Synonyms: Antygen powierzchniowy wirusa zapalenia wątroby typu B
ru-RU	Russian (Russian Federation)	Гепатита В вируса поверхностный Аг:PrThr:ТчкВрм:^Мать:Пор: Synonyms: Порядковый Точка во времени;Момент
tr-TR	Turkish (Turkey)	Hepatit B virüsü yüzey Ag:MevcEşik:Zmlı:^Anne:Srl: Synonyms: Antijen Mevcut
zh-CN	Chinese (China)	乙型肝炎病毒表面抗原:存在情况或阈值:时间点:^母亲:序数型: Synonyms: Ag B 型 HBs Ag HBs 抗原 HBs;HBV s;HBV 表面;HBVs;Hep B 表面;Hep Bs;乙肝病毒表面;肝炎病毒 B 型表面 HBsAg HBV s Ag HBV s 抗原 HBV 表面 Ag HBV 表面抗原 HBV;Hep B;乙型肝炎;乙肝;乙肝病毒;肝炎病毒 B 型 HBVs Ag HBVs 抗原 HBVsAg Hep B 表面 Ag Hep B 表面抗原 Hep Bs Ag Hep Bs 抗原乙型肝炎病毒表面 Ag 乙肝病毒表面 Ag 乙肝病毒表面抗原产妇;孕妇;母性;母方;母系;超系统 - 母亲传染性肝炎传染毒;传染毒素;滤过性病原体;病毒类;过滤性病原体依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值）微生物学;微生物学试验;微生物学试验（培养、DNA、抗原及抗体）时刻;随机;随意;瞬间澳大利亚抗原澳抗澳洲抗原肝肝炎病毒 B 型表面 Ag 肝炎病毒 B 型表面抗原肝炎相关抗原面;表层;上面;外表;表象;面上

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

57712-2 Highest level of education Mother

Term Description

Record the highest degree or level of school completed at the time of delivery.
Source: Regenstrief LOINC

Part Descriptions

LP72877-1 Highest level of education
The highest level of education attained. Source: Centers for Disease Control and Prevention

Observation Required in Panel

Optional

Fully-Specified Name

Component: Highest level of education
Property: Hx
Time: Pt
System: ^Mother
Scale: Ord
Method

Additional Names

Short Name: Highest level of education Mother

Basic Attributes

Class: H&P.HX
Type: Clinical
First Released: Version 2.29
Last Updated: Version 2.63
Change Reason: Changed Component from Mother's education to Highest level of education to match the pattern other level of education terms, such as 80913-7
Order vs. Observation: Observation

Normative Answer List LL836-8

Answer	Code	Score	Answer ID
8th grade/less			LA36-9
9th - 12th grade, no diploma			LA12456-2
High school graduate or GED completed			LA12457-0
Some college credit but no degree			LA12458-8
Associate degree (e.g., AA, AS)			LA12459-6
Bachelor's degree (e.g., BA, AB, BS)			LA12460-4
Master's degree (e.g., MA, MS, MEng, MEd, MSW, MBA)			LA12461-2
Doctorate (e.g., PhD, EdD) or Professional degree (e.g., MD, DDS, DVM, LLB, JD)			LA12462-0
Unknown Copyright http://snomed.info/sct ID:261665006 Unknown (qualifier value)			LA4489-6

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)
63009-5	PhenX domain - Social environments

Member of these Groups Get Info

LOINC Group	Group Name
LG51306-5	SDOH

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	El mas alto nivel de educación:Hx:Punto temporal:^ Madre:Ordinal:
it-IT	Italian (Italy)	Livello più elevato di istruzione:Hx:Pt:^madre:Ord: Synonyms: Anamnesi Punto nel tempo (episodio) Storia;Anamnesi
pt-BR	Portuguese (Brazil)	Educação da mãe:#N/A:Pt:^Mãe:Ord: Synonyms: History; Point in time; Random; Mat; Maternal; Matnl; Ql; Ordinal; QL; Qualitative; Qual; Screen; S prime
ru-RU	Russian (Russian Federation)	Уровень образования:Hx:ТчкВрм:^Мать:Пор: Synonyms: История Порядковый Точка во времени;Момент
zh-CN	Chinese (China)	文化程度:历史记录:时间点:^母亲:序数型: Synonyms: 产妇;孕妇;母性;母方;母系;超系统 - 母亲依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型历史;史;病史历史纪录与体格检查历史纪录与体格检查.历史记录;历史纪录与体格检查.历史记录类;历史纪录与体格检查.历史记录类别;历史纪录与体格检查.病史;历史纪录与体格检查.病史类;历史纪录与体格检查.病史类别;历史纪录与体格检查.病史记录;历史纪录与体格检查.病史记录类;历史纪录与体格检查.病史记录类别;历史纪录与体格检查小节.历史记录;历史纪录与体格检查小节.历史记录类;历史纪录与体格检查小节.历史记录类别;历史纪录与体格检查小节.病史;历史纪录与体格检查小节.病史类;历史纪录与体格检查小节.病史类别历史纪录与体格检查小节教育程度;教育水平;教育等级;受教育程度时刻;随机;随意;瞬间病史与体格检查程度等级级级别

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

67704-7 Feeding types

Term Description

Use this term to record the feeding types the infant consumed prior to collection of the newborn screening specimen. Select any answers that apply; you can select more than one answer. If you select "other," use the additional narrative LOINC code for "Other feeding types" to give additional details. Total Parenteral Nutrition (TPN) can affect NBS results for amino acids, and possibly for acylcarnitines if TPN includes carnitine. Carnitine can affect NBS results for acylcarnitines. MCT oil can affect NBS results for fatty acids. IV dextrose can affect NBS results for C16-OH carnitine. SOURCES: Newborn Screening Guidelines for Preterm, Low Birth Weight, and Sick Newborns; Approved Guideline. CLSI document I/LA31-A. Wayne, PA: Clinical and Laboratory Standards Institute; (2009). Martinez JA, Ballew MP. Infant Formulas. Pediatr Rev 2011 May;32(5):179-89.
Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component: Feeding types
Property: Find
Time: Pt
System: ^Patient
Scale: Nom
Method

Additional Names

Short Name: Feeding types

Basic Attributes

Class: H&P.HX
Type: Clinical
First Released: Version 2.38
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 18491

Normative Answer List LL1735-1

Answer	Code	Score	Answer ID
Breast milk			LA16914-6
Lactose formula			LA16915-3
Lactose free formula (including soy or hydrolyzed)			LA14041-0
NPO			LA16917-9
TPN			LA12418-2
Carnitine Copyright http://snomed.info/sct ID:59888006 Carnitine (substance)			LA16918-7
MCT (medium-chain triglyceride) oil			LA16919-5
IV dextrose			LA16920-3
Other			LA46-8
None Copyright http://snomed.info/sct ID:260413007 None (qualifier value)			LA137-2
Unknown Copyright http://snomed.info/sct ID:261665006 Unknown (qualifier value)			LA4489-6

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Tipos de alimentación:Tipo:Punto temporal:^ Paciente:Nominal:
fr-FR	French (France)	Types de repas:Recherche:Ponctuel:Patient:Résultat nominal:
it-IT	Italian (Italy)	Alimentazione, tipi:Osservazione:Pt:^Paziente:Nom: Synonyms: Anamnesi Osservazione paziente Punto nel tempo (episodio) Tipi di alimentazione
ru-RU	Russian (Russian Federation)	Кормления типы:Находка:ТчкВрм:^Пациент:Ном: Synonyms: Номинальный;Именной Точка во времени;Момент
zh-CN	Chinese (China)	喂养类型:发现:时间点:^患者:名义型: Synonyms: 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答医疗服务对象;客户;病人;病患;病号;超系统 - 病人历史纪录与体格检查历史纪录与体格检查.历史记录;历史纪录与体格检查.历史记录类;历史纪录与体格检查.历史记录类别;历史纪录与体格检查.病史;历史纪录与体格检查.病史类;历史纪录与体格检查.病史类别;历史纪录与体格检查.病史记录;历史纪录与体格检查.病史记录类;历史纪录与体格检查.病史记录类别;历史纪录与体格检查小节.历史记录;历史纪录与体格检查小节.历史记录类;历史纪录与体格检查小节.历史记录类别;历史纪录与体格检查小节.病史;历史纪录与体格检查小节.病史类;历史纪录与体格检查小节.病史类别历史纪录与体格检查小节发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论喂养（喂食、饲喂、饲养、供给、给食、进食、摄食、哺育、哺乳）类型时刻;随机;随意;瞬间病史与体格检查

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

67705-4 Other feeding types Narrative

Condition for Inclusion

Use this term to give additional detail if you select answer "Other" (LA46-8) for Feeding Types (67704-7).

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Other feeding types
Property: Find
Time: Pt
System: ^Patient
Scale: Nar
Method

Additional Names

Short Name: Other feeding types

Basic Attributes

Class: H&P.HX
Type: Clinical
First Released: Version 2.38
Last Updated: Version 2.40
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Otros tipos de alimentación:Tipo:Punto temporal:^ Paciente:Narrativo:
it-IT	Italian (Italy)	Altri tipi di alimentazione:Osservazione:Pt:^Paziente:Nar: Synonyms: Anamnesi Osservazione paziente Punto nel tempo (episodio) Tipi di alimentazione
ru-RU	Russian (Russian Federation)	Другие кормления типы:Находка:ТчкВрм:^Пациент:Опис: Synonyms: Описательный Точка во времени;Момент
zh-CN	Chinese (China)	其他喂养类型:发现:时间点:^患者:叙述型: Synonyms: 其他喂养（喂食、饲喂、饲养、供给、给食、进食、摄食、哺育、哺乳）类型其他的其它其它的别的医疗服务对象;客户;病人;病患;病号;超系统 - 病人历史纪录与体格检查历史纪录与体格检查.历史记录;历史纪录与体格检查.历史记录类;历史纪录与体格检查.历史记录类别;历史纪录与体格检查.病史;历史纪录与体格检查.病史类;历史纪录与体格检查.病史类别;历史纪录与体格检查.病史记录;历史纪录与体格检查.病史记录类;历史纪录与体格检查.病史记录类别;历史纪录与体格检查小节.历史记录;历史纪录与体格检查小节.历史记录类;历史纪录与体格检查小节.历史记录类别;历史纪录与体格检查小节.病史;历史纪录与体格检查小节.病史类;历史纪录与体格检查小节.病史类别历史纪录与体格检查小节发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型另外的喂养（喂食、饲喂、饲养、供给、给食、进食、摄食、哺育、哺乳）类型时刻;随机;随意;瞬间病史与体格检查

79569-0 Blood product given [Type]

Term Description

Use this term to record the blood transfusion types the infant received prior to collection of the newborn screening specimen. Select any answers that apply; you can select more than one answer.
Source: Regenstrief LOINC

Condition for Inclusion

If an infant was given a blood product, the type should be reported.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Blood product given
Property: Type
Time: Pt
System: ^Patient
Scale: Nom
Method

Additional Names

Short Name: Blood product Gvn Type

Basic Attributes

Class: H&P.HX
Type: Clinical
First Released: Version 2.54
Last Updated: Version 2.54
Order vs. Observation: Both

Preferred Answer List LL3859-7

Answer	Code	Score	Answer ID
Blood product transfusion that includes Red Blood Cells (RBC)			LA25396-5
Blood product transfusion that does NOT include Red Blood Cells (RBC)			LA25397-3
Extracorporeal life support (ECLS)/Extracorporeal membrane oxygenation (ECMO)			LA25398-1
Intrauterine Fetal Blood Transfusion that includes Red Blood Cells (RBC)			LA25399-9
Intrauterine Fetal Blood Transfusion that does not includes Red Blood Cells (RBC)			LA25400-5
Other blood product transfusion			LA25401-3

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Producto de sangre dado:Tipo:Punto temporal:^paciente:Nom:
es-MX	Spanish (Mexico)	Hemoderivado administrado:Tipo:Punto temporal:^ Paciente:Nominal:
it-IT	Italian (Italy)	Prodotto Sangue , somministrato:Tipo:Pt:^Paziente:Nom: Synonyms: Anamnesi paziente Punto nel tempo (episodio)
zh-CN	Chinese (China)	血液制品给予的:类型:时间点:^患者:名义型: Synonyms: 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答医疗服务对象;客户;病人;病患;病号;超系统 - 病人历史纪录与体格检查历史纪录与体格检查.历史记录;历史纪录与体格检查.历史记录类;历史纪录与体格检查.历史记录类别;历史纪录与体格检查.病史;历史纪录与体格检查.病史类;历史纪录与体格检查.病史类别;历史纪录与体格检查.病史记录;历史纪录与体格检查.病史记录类;历史纪录与体格检查.病史记录类别;历史纪录与体格检查小节.历史记录;历史纪录与体格检查小节.历史记录类;历史纪录与体格检查小节.历史记录类别;历史纪录与体格检查小节.病史;历史纪录与体格检查小节.病史类;历史纪录与体格检查小节.病史类别历史纪录与体格检查小节型指定的;特定的;给定的时刻;随机;随意;瞬间病史与体格检查血;全血血液制剂;血制品

62317-3 Date of last blood product transfusion

Observation Required in Panel

Optional

Fully-Specified Name

Component: Date of last blood product transfusion
Property: TmStp
Time: Pt
System: ^Patient
Scale: Qn
Method

Additional Names

Short Name: Date last blood product transfusion

Basic Attributes

Class: H&P.HX
Type: Clinical
First Released: Version 2.34
Last Updated: Version 2.36

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Fecha de la última transfusión de hemoderivados:TmStp:Punto temporal:^ Paciente:Cuantitativo:
it-IT	Italian (Italy)	Data di ultima trasfusione prodotto sangue:TmStp:Pt:^Paziente:Qn: Synonyms: Anamnesi paziente Punto nel tempo (episodio) Time stamp (Data e Ora)
ru-RU	Russian (Russian Federation)	Дата последнее переливание продукт крови:TmStp:ТчкВрм:^Пациент:Колич: Synonyms: Time Stamp (Дата и Время) Количественный Точка во времени;Момент
zh-CN	Chinese (China)	末次血液制品输注日期:时间戳:时间点:^患者:定量型: Synonyms: 医疗服务对象;客户;病人;病患;病号;超系统 - 病人印时戳;时标;时间戳(日期与时间);时间标记;计时标记历史纪录与体格检查历史纪录与体格检查.历史记录;历史纪录与体格检查.历史记录类;历史纪录与体格检查.历史记录类别;历史纪录与体格检查.病史;历史纪录与体格检查.病史类;历史纪录与体格检查.病史类别;历史纪录与体格检查.病史记录;历史纪录与体格检查.病史记录类;历史纪录与体格检查.病史记录类别;历史纪录与体格检查小节.历史记录;历史纪录与体格检查小节.历史记录类;历史纪录与体格检查小节.历史记录类别;历史纪录与体格检查小节.病史;历史纪录与体格检查小节.病史类;历史纪录与体格检查小节.病史类别历史纪录与体格检查小节可用数量表示的;定量性;数值型;数量型;连续数值型标尺日子;几号时刻;随机;随意;瞬间最后（最后一次、末次、最近一次、最近、最新）血液制品输注日期;最后血液制品输注日期注入灌输病史与体格检查血;全血血库成分 - 输血血液制剂;血制品输注输液输血法

58232-0 Hearing loss risk indicators [Identifier]

Term Description

This question should be answered as part of the order and/or result of new born screen for hearing loss. It is intended to capture the risk factors identified by the Joint committee on Infant Hearing (JCIH) in appendix 2 of their recommendations (Pediatrics 2007;120;898-921). The user should always provide an answer (none if no risk factors exist) and otherwise pick as many answers as apply. The observations must be included IF the hearing screening result is delivered as part of this report.
Source: Regenstrief LOINC

Condition for Inclusion

This term should be used in the context of the card data panel if newborn hearing screen information is included on the DBS card.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Hearing loss risk indicators
Property: Prid
Time: Pt
System: ^Patient
Scale: Nom
Method

Additional Names

Short Name: Hearing loss risk indicators

Basic Attributes

Class: H&P.HX
Type: Clinical
First Released: Version 2.30
Last Updated: Version 2.56
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.

Preferred Answer List LL862-4

Answer	Code	Score	Answer ID
Family Hx of hearing loss			LA12668-2
ICU stay > 5 days			LA12669-0
Hyperbilirubinemia with exchange transfusion			LA12673-2
Aminoglycoside administration for more than 5 days			LA12672-4
Asphyxia or Hypoxic Ischemic Encephalopathy			LA31563-2
ECMO			LA12670-8
In utero infection(s) such as herpes, rubella, syphilis, and toxoplasmosis			LA12674-0
In utero infection with cytomegalovirus (CMV)			LA31564-0
Mother + Zika and infant with no laboratory evidence and no clinical findings			LA31565-7
Mother + Zika and infant with laboratory evidence of Zika			LA31566-5
Craniofacial malformations: Other (e.g., ear dysplasia, oral facial clefting, white forelock, microphthalmia)			LA31852-9
Craniofacial malformations: microtia/atresia			LA31853-7
Congenital microcephaly, congenital or acquired hydrocephalus			LA31567-3
Temporal bone abnormalities			LA31568-1
Syndromes associated with atypical hearing thresholds			LA12676-5
Culture-positive infections associated with sensorineural hearing loss			LA12678-1
Significant head trauma			LA12679-9
Chemotherapy			LA6172-6
Caregiver concern about hearing			LA12667-4
None Copyright http://snomed.info/sct ID:260413007 None (qualifier value)			LA137-2

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54111-0	Newborn hearing screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Hörverlust Risikoindikatoren:Nachweis oder Identität:Zeitpunkt:^Patient:Nominal:
es-MX	Spanish (Mexico)	Indicadores de riesgo de pérdida auditiva:Tipo:Punto temporal:^ Paciente:Nominal:
it-IT	Italian (Italy)	Perdita uditiva, indicatori di rischio:Prid:Pt:^Paziente:Nom: Synonyms: Anamnesi Indicatori di rischio di perdita uditiva paziente Presenza o Identità Punto nel tempo (episodio)
pt-BR	Portuguese (Brazil)	Indicadores de risco para perda auditiva:Ident:Pt:^Paciente:Nom: Synonyms: Identity or presence; Point in time; Random; Nominal
ru-RU	Russian (Russian Federation)	Слух потеря риск индикаторы:ПрИд:ТчкВрм:^Пациент:Ном: Synonyms: Номинальный;Именной Потеря слуха Присутствие или Идентификация Точка во времени;Момент
zh-CN	Chinese (China)	听力损失风险指标:存在与否或特征标识:时间点:^患者:名义型: Synonyms: 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答医疗服务对象;客户;病人;病患;病号;超系统 - 病人历史纪录与体格检查历史纪录与体格检查.历史记录;历史纪录与体格检查.历史记录类;历史纪录与体格检查.历史记录类别;历史纪录与体格检查.病史;历史纪录与体格检查.病史类;历史纪录与体格检查.病史类别;历史纪录与体格检查.病史记录;历史纪录与体格检查.病史记录类;历史纪录与体格检查.病史记录类别;历史纪录与体格检查小节.历史记录;历史纪录与体格检查小节.历史记录类;历史纪录与体格检查小节.历史记录类别;历史纪录与体格检查小节.病史;历史纪录与体格检查小节.病史类;历史纪录与体格检查小节.病史类别历史纪录与体格检查小节听力损失（听力损害、听力丧失、听觉损耗）风险指标（迹象、标志）听力损害;听力丧失;听觉损耗听觉存在;存在与否;特征标识;身份;身份标识时刻;随机;随意;瞬间病史与体格检查

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

54106-0 Newborn hearing screen method

Condition for Inclusion

This term should be used in the context of the card data panel if newborn hearing screen information is included on the DBS card

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Newborn hearing screen method
Property: Type
Time: Pt
System: Ear
Scale: Nom
Method

Additional Names

Short Name: NB hearing scn meth

Basic Attributes

Class: H&P.HX
Type: Clinical
First Released: Version 2.26
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation

Preferred Answer List LL617-2

Answer	Code	Answer ID
Automated auditory brainstem response	AABR	LA10387-1
Auditory brain stem response	ABR	LA10388-9
Otoacoustic emissions	OAE	LA10389-7
Distortion product otoacoustic emissions	DPOAE	LA10390-5
Transient otoacoustic emissions	TOAE	LA10391-3
Methodology unknown		LA12406-7

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54111-0	Newborn hearing screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
de-DE	German (Germany)	Hören bei Neugeborenen Screening:Typ:Zeitpunkt:Ohr:Nominal:
es-MX	Spanish (Mexico)	Método de evaluación auditiva para recién nacidos:Tipo:Punto temporal:Oreja:Nominal:
it-IT	Italian (Italy)	Neonato, udito , screening, metodo:Tipo:Pt:Orecchio:Nom: Synonyms: , metodo di screening Anamnesi Punto nel tempo (episodio) Screening uditivo del neonato Udito del neonato
pt-BR	Portuguese (Brazil)	Recém-nascido método de triagem da audição:Tipo:Pt:Orelha:Nom: Synonyms: ; NB hearing scn meth; NBS; Method of; Meth; Typ; Point in time; Random; Otologic; Nominal; Scr; Scn; Scrn; New born
ru-RU	Russian (Russian Federation)	Новорождённого слух скрин метод:Тип:ТчкВрм:Ухо:Ном: Synonyms: Номинальный;Именной Точка во времени;Момент
zh-CN	Chinese (China)	新生儿听力筛查方法:类型:时间点:耳:名义型: Synonyms: 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答历史纪录与体格检查历史纪录与体格检查.历史记录;历史纪录与体格检查.历史记录类;历史纪录与体格检查.历史记录类别;历史纪录与体格检查.病史;历史纪录与体格检查.病史类;历史纪录与体格检查.病史类别;历史纪录与体格检查.病史记录;历史纪录与体格检查.病史记录类;历史纪录与体格检查.病史记录类别;历史纪录与体格检查小节.历史记录;历史纪录与体格检查小节.历史记录类;历史纪录与体格检查小节.历史记录类别;历史纪录与体格检查小节.病史;历史纪录与体格检查小节.病史类;历史纪录与体格检查小节.病史类别历史纪录与体格检查小节听觉型新生儿听力（听觉）筛查方;法;办法;方式时刻;随机;随意;瞬间病史与体格检查筛查筛查试验筛选方法;过筛方法筛选试验耳朵;耳部过筛过筛试验

54108-6 Newborn hearing screen of Ear - left

Condition for Inclusion

This term should be used in the context of the card data panel if newborn hearing screen information is included on the DBS card

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Newborn hearing screen
Property: Arb
Time: Pt
System: Ear.left
Scale: Ord
Method

Additional Names

Short Name: NB hearing scn Ear-L

Basic Attributes

Class: H&P.HX
Type: Clinical
First Released: Version 2.26
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Both

Preferred Answer List LL618-0

Answer	Code	Score	Answer ID
Pass			LA10392-1
Refer Copyright http://snomed.info/sct ID:183924009 Referral needed (finding)			LA10393-9
Parental refusal Copyright http://snomed.info/sct ID:609589008 Refused by parents of subject (qualifier value)			LA6644-4
Attempted, but unsuccessful - technical fail Copyright http://snomed.info/sct ID:103709008 Failed attempted procedure (situation)			LA12408-3
Not performed Copyright http://snomed.info/sct ID:262008008 Not performed (qualifier value)			LA7304-4
Not performed, medical exclusion - not indicated Copyright http://snomed.info/sct ID:410534003 Not indicated (qualifier value)			LA12409-1

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54111-0	Newborn hearing screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Pantalla de audición para recién nacidos:Arb:Punto temporal:Oreja izquierda:Ordinal:
it-IT	Italian (Italy)	Neonato, screening udito:Arb:Pt:Orecchio.sinistro:Ord: Synonyms: Anamnesi Arbitrario Orecchio Sinistro Punto nel tempo (episodio) Screening uditivo del neonato Udito del neonato
pt-BR	Portuguese (Brazil)	Recém-nascido triagem de audição:Arb:Pt:Orelha.esquerda:Ord: Synonyms: ; NB hearing scn; NBS; Arbitrary; Point in time; Random; Ear-L; Ear-L; Otologic; Ql; Ordinal; QL; Qualitative; Qual; Scr; Scn; Scrn; New born
ru-RU	Russian (Russian Federation)	Новорождённый слух скрин:Произв:ТчкВрм:Ухо.левое:Пор: Synonyms: Порядковый Произвольный Точка во времени;Момент
zh-CN	Chinese (China)	新生儿听力筛查:任意型:时间点:耳.左侧:序数型: Synonyms: L LT 任意;任意的;人工型依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型历史纪录与体格检查历史纪录与体格检查.历史记录;历史纪录与体格检查.历史记录类;历史纪录与体格检查.历史记录类别;历史纪录与体格检查.病史;历史纪录与体格检查.病史类;历史纪录与体格检查.病史类别;历史纪录与体格检查.病史记录;历史纪录与体格检查.病史记录类;历史纪录与体格检查.病史记录类别;历史纪录与体格检查小节.历史记录;历史纪录与体格检查小节.历史记录类;历史纪录与体格检查小节.历史记录类别;历史纪录与体格检查小节.病史;历史纪录与体格检查小节.病史类;历史纪录与体格检查小节.病史类别历史纪录与体格检查小节向左向左侧听觉左左侧（Left，LT，L）左向左耳左边新生儿听力（听觉）筛查时刻;随机;随意;瞬间病史与体格检查筛查筛查试验筛选试验耳朵;耳部过筛过筛试验

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

54109-4 Newborn hearing screen of Ear - right

Condition for Inclusion

This term should be used in the context of the card data panel if newborn hearing screen information is included on the DBS card

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Newborn hearing screen
Property: Arb
Time: Pt
System: Ear.right
Scale: Ord
Method

Additional Names

Short Name: NB hearing scn Ear-R

Basic Attributes

Class: H&P.HX
Type: Clinical
First Released: Version 2.26
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Both

Preferred Answer List LL618-0

Answer	Code	Score	Answer ID
Pass			LA10392-1
Refer Copyright http://snomed.info/sct ID:183924009 Referral needed (finding)			LA10393-9
Parental refusal Copyright http://snomed.info/sct ID:609589008 Refused by parents of subject (qualifier value)			LA6644-4
Attempted, but unsuccessful - technical fail Copyright http://snomed.info/sct ID:103709008 Failed attempted procedure (situation)			LA12408-3
Not performed Copyright http://snomed.info/sct ID:262008008 Not performed (qualifier value)			LA7304-4
Not performed, medical exclusion - not indicated Copyright http://snomed.info/sct ID:410534003 Not indicated (qualifier value)			LA12409-1

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54111-0	Newborn hearing screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Pantalla de audición para recién nacidos:Arb:Punto temporal:Oído derecho:Ordinal:
it-IT	Italian (Italy)	Neonato, screening udito:Arb:Pt:Orecchio.destro:Ord: Synonyms: Anamnesi Arbitrario Orecchio Destro Punto nel tempo (episodio) Screening uditivo del neonato Udito del neonato
pt-BR	Portuguese (Brazil)	Recém-nascido triagem de audição:Arb:Pt:Orelha.direita:Ord: Synonyms: ; NB hearing scn; NBS; Arbitrary; Point in time; Random; Ear-R; Ear-R; Otologic; Ql; Ordinal; QL; Qualitative; Qual; Scr; Scn; Scrn; New born
ru-RU	Russian (Russian Federation)	Новорождённый слух скрин:Произв:ТчкВрм:Ухо.правое:Пор: Synonyms: Порядковый Произвольный Точка во времени;Момент
zh-CN	Chinese (China)	新生儿听力筛查:任意型:时间点:耳.右侧:序数型: Synonyms: R RT 任意;任意的;人工型依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型历史纪录与体格检查历史纪录与体格检查.历史记录;历史纪录与体格检查.历史记录类;历史纪录与体格检查.历史记录类别;历史纪录与体格检查.病史;历史纪录与体格检查.病史类;历史纪录与体格检查.病史类别;历史纪录与体格检查.病史记录;历史纪录与体格检查.病史记录类;历史纪录与体格检查.病史记录类别;历史纪录与体格检查小节.历史记录;历史纪录与体格检查小节.历史记录类;历史纪录与体格检查小节.历史记录类别;历史纪录与体格检查小节.病史;历史纪录与体格检查小节.病史类;历史纪录与体格检查小节.病史类别历史纪录与体格检查小节右右侧（Right，R，RT）右侧的右向右向的右耳右边右边的向右向右的听觉新生儿听力（听觉）筛查时刻;随机;随意;瞬间病史与体格检查筛查筛查试验筛选试验耳朵;耳部过筛过筛试验

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

73700-7 CCHD newborn screening interpretation

Term Description

The critical congenital heart defects (CCHD) newborn screening interpretation is the end result of the screening event and is based on the preductal and postductal oxygen saturation measurements as well as the difference between the preductal and postductal measurement. The interpretation will also depend on the particular protocol used for screening.
Source: Regenstrief LOINC

Condition for Inclusion

This term should be used in the context of the card data panel if newborn CCHD screening information is included on the DBS card

Observation Required in Panel

Conditional

Fully-Specified Name

Component: CCHD newborn screening interpretation
Property: Imp
Time: Pt
System: ^Patient
Scale: Nom
Method

Additional Names

Short Name: CCHD NBS interp

Basic Attributes

Class: H&P.PX
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.73
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation

Preferred Answer List LL2453-0

Answer	Code	Score	Answer ID
In range			LA18592-8
Out of range			LA18593-6
Inconclusive, repeat screen needed			LA19816-0
Attempted but unsuccessful - technical fail			LA19817-8
Not performed Copyright http://snomed.info/sct ID:262008008 Not performed (qualifier value)			LA7304-4

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Interpretación del cribado neonatal de CCHD:Interpretación:Punto temporal:^ Paciente:Nominal:
it-IT	Italian (Italy)	CCHD neonato, screening, interpretazione:Imp:Pt:^Paziente:Nom: Synonyms: Esame obbiettivo Impressione/interpretazione di studio Interpretazione dello screening neonato CCHD paziente Punto nel tempo (episodio)
ru-RU	Russian (Russian Federation)	CCHD новорождённого скрининг интерпретация:Впчт:ТчкВрм:^Пациент:Ном: Synonyms: Впечатление/интерпретация исследования Номинальный;Именной Точка во времени;Момент
zh-CN	Chinese (China)	CCHD 新生儿筛查解释:印象:时间点:^患者:名义型: Synonyms: Asympt CCHD 新生儿（NB）筛查（筛选、过筛、筛检）解释;Critical Congenital Heart Defect;Critical Congenital Heart Disease;CCHD;危重先天性心脏病;危重先天性心脏缺陷 SCN 体格检查小节与指标;体格检查小节与测量指标;历史纪录与体格检查.体格检查小节与指标;历史纪录与体格检查.体格检查小节与测量指标;历史纪录与体格检查小节.体格检查小节与指标;历史纪录与体格检查小节.体格检查小节与测量指标;病史与体格检查.体格检查小节与指标;病史与体格检查.体格检查小节与测量指标;病史与体格检查小节.体格检查小节与指标分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答判读;解释说明;说明;释义;阐明医疗服务对象;客户;病人;病患;病号;超系统 - 病人印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释历史纪录与体格检查历史纪录与体格检查小节无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验病史与体格检查筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

73698-3 Reason CCHD oxygen saturation screening not performed

Term Description

Virtually every infant born in the hospital in the United States should have critical congenital heart defects (CCHD) oxygen saturation screening. However, there are some cases in which screening was not appropriate or was not done for other reasons. This term is meant to capture the reason that screening was not performed in those rare instances that an infant did not get screened.
Source: Regenstrief LOINC

Condition for Inclusion

This term should be used in the context of the card data panel if newborn CCHD screening information is included on the DBS card

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Reason CCHD oxygen saturation screening not performed
Property: Find
Time: Pt
System: ^Patient
Scale: Nom
Method

Additional Names

Short Name: CCHD SaO2 scrn not prfrmd

Basic Attributes

Class: H&P.PX
Type: Clinical
First Released: Version 2.44
Last Updated: Version 2.56
Change Reason: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation: Observation

Preferred Answer List LL2458-9

Answer	Code	Score	Answer ID
Prior prenatal diagnosis of CCHD			LA19819-4
Prior postnatal diagnosis of CCHD			LA19820-2
Early discharge			LA19821-0
Transfer prior to screening			LA19822-8
Infant in NICU			LA19823-6
Medically unstable and inappropriate for screen			LA19824-4
Receiving supplemental oxygen			LA19825-1
Infant deceased			LA19826-9
Parental refusal based on religious beliefs			LA19827-7
Parental refusal for reasons other than religious beliefs			LA19828-5
Equipment failure			LA7497-6
Diagnostic testing begun in lieu of screening based on clinical suspicion for CCHD			LA20946-2
Infant being monitored or treated for non-CCHD condition			LA20947-0
Comfort care only			LA25798-2
Echocardiography normal			LA25799-0
Missed/not documented			LA25800-6
Other, Please describe			LA46-8

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Razón por la que no se realizó el cribado de saturación de oxígeno de la CCHD:Tipo:Punto temporal:^ Paciente:Nominal:
it-IT	Italian (Italy)	Motivo per cui non è stato eseguito lo screening della saturazione di ossigeno per difetti cardiaci congeniti critici:Osservazione:Pt:^Paziente:Nom: Synonyms: Esame obbiettivo Osservazione paziente Punto nel tempo (episodio)
ru-RU	Russian (Russian Federation)	Причина CCHD кислорода сатурации скрининг не выполнен:Находка:ТчкВрм:^Пациент:Ном: Synonyms: Насыщение кислородом Номинальный;Именной Точка во времени;Момент
zh-CN	Chinese (China)	未进行 CCHD 氧饱和度筛查的原因:发现:时间点:^患者:名义型: Synonyms: Asympt O2;tO2;总氧;氧气 SCN 体格检查小节与指标;体格检查小节与测量指标;历史纪录与体格检查.体格检查小节与指标;历史纪录与体格检查.体格检查小节与测量指标;历史纪录与体格检查小节.体格检查小节与指标;历史纪录与体格检查小节.体格检查小节与测量指标;病史与体格检查.体格检查小节与指标;病史与体格检查.体格检查小节与测量指标;病史与体格检查小节.体格检查小节与指标分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答医疗服务对象;客户;病人;病患;病号;超系统 - 病人历史纪录与体格检查历史纪录与体格检查小节发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验未执行（完成、开展、进行、做、检查、履行） CCHD 氧饱和度筛查的原因（理由）;Critical Congenital Heart Defect;Critical Congenital Heart Disease;CCHD;危重先天性心脏病;危重先天性心脏缺陷病史与体格检查筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验饱和饱和状态饱和程度

57723-9 Unique bar code number of Current sample

Observation Required in Panel

Required

Fully-Specified Name

Component: Unique bar code number
Property: ID
Time: Pt
System: Current sample
Scale: Nom
Method

Additional Names

Short Name: Unique bar code # Current sample
Display Name: Unique bar code number Nom (Current sample) [ID]
Consumer Name Alpha Get Info: Unique bar code number, Current Sample

Basic Attributes

Class: SPEC
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 6255

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Número único de código de barras:Código identificador:Punto temporal:Muestra actual:Nom:
es-MX	Spanish (Mexico)	Número de código de barras único:Identificador:Punto temporal:Muestra actual:Nominal:
fr-FR	French (France)	Code barre numéro unique:Identifiant:Ponctuel:Échantillon courant:Résultat nominal:
it-IT	Italian (Italy)	Numero unico di codice a barre:ID:Pt:Campione attuale:Nom: Synonyms: Caratteristiche campione Identificatore Punto nel tempo (episodio)
nl-NL	Dutch (Netherlands)	unieke barcodenummer:identificator:moment:huidig monster:nominaal:
pt-BR	Portuguese (Brazil)	Único número de código de barras:#N/A:Pt:Amostra atual:Nom: Synonyms: ; Unique bar code #; Num; No; Identifier; Ident; Point in time; Random; Nominal
ru-RU	Russian (Russian Federation)	Уникальный штрих-код номер:ID:ТчкВрм:Текущий образец:Ном: Synonyms: Идентификатор Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Benzersiz/tek bar kod numarası:Tnmlyc:Zmlı:Mevcut örnek:Snf:
zh-CN	Chinese (China)	唯一性条形码编号:标识符:时间点:当前样品:名义型: Synonyms: 个数;数目分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答唯一性条形码;唯一性条形码编码当前样本;当前标本;当前试样时刻;随机;随意;瞬间标本;标本信息;标本类标识;身份标识符;身份标识

57711-4 Unique bar code number of Initial sample

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Unique bar code number
Property: ID
Time: Pt
System: Initial sample
Scale: Nom
Method

Additional Names

Short Name: Unique bar code # Initial sample
Display Name: Unique bar code number Nom (Initial sample) [ID]
Consumer Name Alpha Get Info: Unique bar code number, Initial Sample

Basic Attributes

Class: SPEC
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.36
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Número único de código de barras:Código identificador:Punto temporal:Muestra inicial:Nom:
es-MX	Spanish (Mexico)	Número de código de barras único:Identificador:Punto temporal:Muestra inicial:Nominal:
fr-FR	French (France)	Code barre numéro unique:Identifiant:Ponctuel:Échantillon initial:Résultat nominal:
fr-BE	French (Belgium)	Numéro Bar-code unique:Identifiant:Temps ponctuel:Echantillon initial:Nominal:
it-IT	Italian (Italy)	Numero unico di codice a barre:ID:Pt:Campione iniziale:Nom: Synonyms: Caratteristiche campione Identificatore Punto nel tempo (episodio)
nl-NL	Dutch (Netherlands)	unieke barcodenummer:identificator:moment:initieel monster:nominaal:
pt-BR	Portuguese (Brazil)	Único número de código de barras:#N/A:Pt:Amostra inicial:Nom: Synonyms: ; Unique bar code #; Num; No; Identifier; Ident; Point in time; Random; Nominal
ru-RU	Russian (Russian Federation)	Уникальный штрих-код номер:ID:ТчкВрм:Начальный образец:Ном: Synonyms: Идентификатор Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Benzersiz/tek bar kod numarası:Tnmlyc:Zmlı:İlk örnek:Snf:
zh-CN	Chinese (China)	唯一性条形码编号:标识符:时间点:初始样品:名义型: Synonyms: 个数;数目分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答初期样品;初始样本;初始标本;初次样品唯一性条形码;唯一性条形码编码时刻;随机;随意;瞬间标本;标本信息;标本类标识;身份标识符;身份标识

62323-1 Post-discharge provider ID [Identifier]

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Post-discharge provider ID
Property: ID
Time: Pt
System: Provider
Scale: Nom
Method

Additional Names

Short Name: Post-discharge provider ID
Display Name: Post-discharge provider ID Nom (Provider) [ID]
Consumer Name Alpha Get Info: Post-discharge Provider ID, Provider

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.56
Last Updated: Version 2.56
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	ID del proveedor después del alta:Código identificador:Punto temporal:Proveedores:Nom:
es-MX	Spanish (Mexico)	Identificación del proveedor posterior al alta:Identificador:Punto temporal:Proveedor:Nominal:
it-IT	Italian (Italy)	Provider post-dimissione, ID:ID:Pt:Provider:Nom: Synonyms: Chimica ID di provider post-dimissione Identificatore Punto nel tempo (episodio)
ru-RU	Russian (Russian Federation)	После выбытие провайдер ID:ID:ТчкВрм:Провайдер:Ном: Synonyms: Выписка Идентификатор Номинальный;Именной Точка во времени;Момент
zh-CN	Chinese (China)	出院后服务提供者标识符:标识符:时间点:服务提供者:名义型: Synonyms: XXX刺激 - 在...之后之后于... 允许...离开(医院、军队);(从监狱)释放出院后服务提供者（服务提供方、服务提供人员、服务人员、服务工作人员、医务人员） ID;出院后服务提供方标识符;出院后服务提供人员标识符分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类在...以后在后提供方;提供者;服务人员;服务提供方;服务方;服务机构;服务者时刻;随机;随意;瞬间标志标志符标识标识;身份标识符;身份标识标识符标识符（Identifier，ID）皮下皮下的皮内皮内（Intradermal，ID）皮内的皮层内皮层内的真皮下真皮下的真皮内的识别识别符

62324-9 Post-discharge provider name in Provider

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Post-discharge provider name
Property: Pn
Time: Pt
System: Provider
Scale: Nom
Method

Additional Names

Short Name: Post-discharge provider name Provider
Display Name: Post-discharge provider name Nom (Provider)
Consumer Name Alpha Get Info: Post-discharge provider name, Provider

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.56
Last Updated: Version 2.56
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Nombre del proveedor después del alta:Pn:Punto temporal:Proveedores:Nom:
es-MX	Spanish (Mexico)	Nombre del proveedor posterior al alta:Nombre de la persona:Punto temporal:Proveedor:Nominal:
it-IT	Italian (Italy)	Provider post-dimissione, nome:Pn:Pt:Provider:Nom: Synonyms: Chimica Nome di persona Nome di provider post-dimissione Punto nel tempo (episodio)
ru-RU	Russian (Russian Federation)	После выбытие провайдер имя:Фам:ТчкВрм:Провайдер:Ном: Synonyms: Выписка Номинальный;Именной Точка во времени;Момент Фамилия
zh-CN	Chinese (China)	出院后服务提供者姓名:人员姓名:时间点:服务提供者:名义型: Synonyms: XXX刺激 - 在...之后之后于... 人名允许...离开(医院、军队);(从监狱)释放出院后服务提供者（服务提供方、服务提供人员、服务人员、服务工作人员、医务人员）名称;出院后服务提供人员姓名;出院后服务提供方姓名分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类在...以后在后姓名;名字;名提供方;提供者;服务人员;服务提供方;服务方;服务机构;服务者时刻;随机;随意;瞬间

62325-6 Post-discharge provider practice ID

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Post-discharge provider practice ID
Property: ID
Time: Pt
System: Provider
Scale: Nom
Method

Additional Names

Short Name: Post-discharge provider practice ID
Display Name: Post-discharge provider practice ID Nom (Provider) [ID]
Consumer Name Alpha Get Info: Post-discharge Provider Practice ID, Provider

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.56
Last Updated: Version 2.56
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	ID del proveedor del servicio después del alta:Código identificador:Punto temporal:Proveedores:Nom:
es-MX	Spanish (Mexico)	Identificación de la práctica del proveedor posterior al alta:Identificador:Punto temporal:Proveedor:Nominal:
it-IT	Italian (Italy)	Provider post-dimissione, ID studio:ID:Pt:Provider:Nom: Synonyms: Chimica ID studio di provider post-dimissione Identificatore Punto nel tempo (episodio)
ru-RU	Russian (Russian Federation)	После выбытие провайдер практика ID:ID:ТчкВрм:Провайдер:Ном: Synonyms: Выписка Идентификатор Номинальный;Именной Точка во времени;Момент
zh-CN	Chinese (China)	出院后服务提供者执业标识符:标识符:时间点:服务提供者:名义型: Synonyms: XXX刺激 - 在...之后之后于... 允许...离开(医院、军队);(从监狱)释放出院后服务提供者（服务提供方、服务提供人员、服务人员、服务工作人员、医务人员）执业 ID;出院后服务提供方执业标识符;出院后服务提供人员执业标识符;出院后服务提供者开业标识符分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类在...以后在后提供方;提供者;服务人员;服务提供方;服务方;服务机构;服务者时刻;随机;随意;瞬间标志标志符标识标识;身份标识符;身份标识标识符标识符（Identifier，ID）皮下皮下的皮内皮内（Intradermal，ID）皮内的皮层内皮层内的真皮下真皮下的真皮内的识别识别符

62326-4 Post-discharge provider practice name

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Post-discharge provider practice name
Property: ID
Time: Pt
System: Provider
Scale: Nom
Method

Additional Names

Short Name: Post-discharge provider practice name
Display Name: Post-discharge provider practice name Nom (Provider) [ID]
Consumer Name Alpha Get Info: Post-discharge provider practice name, Provider

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.56
Last Updated: Version 2.56
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Nombre del proveedor del servicio después del alta:Código identificador:Punto temporal:Proveedores:Nom:
es-MX	Spanish (Mexico)	Nombre de la práctica del proveedor posterior al alta:Identificador:Punto temporal:Proveedor:Nominal:
it-IT	Italian (Italy)	Provider post-dimissione, nome studio:ID:Pt:Provider:Nom: Synonyms: Chimica Identificatore Nome studio di provider post-dimissione Punto nel tempo (episodio)
ru-RU	Russian (Russian Federation)	После выбытие провайдер практика наименование:ID:ТчкВрм:Провайдер:Ном: Synonyms: Выписка Идентификатор Номинальный;Именной Точка во времени;Момент
zh-CN	Chinese (China)	出院后服务提供者执业姓名:标识符:时间点:服务提供者:名义型: Synonyms: XXX刺激 - 在...之后之后于... 允许...离开(医院、军队);(从监狱)释放出院后服务提供者（服务提供方、服务提供人员、服务人员、服务工作人员、医务人员）执业名称;出院后服务提供人员执业姓名;出院后服务提供方执业姓名;出院后服务提供者开业姓名分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类在...以后在后姓名;名字;名提供方;提供者;服务人员;服务提供方;服务方;服务机构;服务者时刻;随机;随意;瞬间标识;身份标识符;身份标识

62327-2 Post-discharge provider practice address

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Post-discharge provider practice address
Property: Addr
Time: Pt
System: Provider
Scale: Nom
Method

Additional Names

Short Name: Post-disch prov practice address
Display Name: Post-discharge provider practice address Nom (Provider)
Consumer Name Alpha Get Info: Post-discharge provider practice address, Provider

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.56
Last Updated: Version 2.56
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Dirección del proveedor del servicio después del alta:Dirección:Punto temporal:Proveedores:Nom:
es-MX	Spanish (Mexico)	Dirección de la práctica del proveedor después del alta:Dirección (tipo de datos HL7):Punto temporal:Proveedor:Nominal:
fr-FR	French (France)	Adresse fournisseur après traitement:Adresse:Ponctuel:Fournisseur:Résultat nominal:
it-IT	Italian (Italy)	Provider post-dimissione, indirizzo studio:Addr:Pt:Provider:Nom: Synonyms: Chimica Indirizzo (HL7 data type) Indirizzo studio di provider post-dimissione Punto nel tempo (episodio)
ru-RU	Russian (Russian Federation)	После выбытие провайдер практика адрес:Адр:ТчкВрм:Провайдер:Ном: Synonyms: Адрес (HL7 data type) Выписка Номинальный;Именной Точка во времени;Момент
zh-CN	Chinese (China)	出院后服务提供者执业地址:地址:时间点:服务提供者:名义型: Synonyms: XXX刺激 - 在...之后之后于... 允许...离开(医院、军队);(从监狱)释放出院后服务提供者（服务提供方、服务提供人员、服务人员、服务工作人员、医务人员）开业地址;出院后服务提供人员执业地址;出院后服务提供方执业地址分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类在...以后在后地址(来自HL7) 提供方;提供者;服务人员;服务提供方;服务方;服务机构;服务者时刻;随机;随意;瞬间

62328-0 Post-discharge provider practice phone number

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Post-discharge provider practice phone number
Property: Tele
Time: Pt
System: Provider
Scale: Nom
Method

Additional Names

Short Name: Post-disch prov practice phone #
Display Name: Post-discharge provider practice telephone number Nom (Provider)
Consumer Name Alpha Get Info: Post-discharge Provider Practice Phone Number

Basic Attributes

Class: ADMIN
Type: Clinical
First Released: Version 2.56
Last Updated: Version 2.66
Change Reason: Updated "telephone" in Component to "phone" for consistency across terms that report a phone number. Updated Class from "LAB" to "ADMIN".
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Número de teléfono de la consulta del proveedor después del alta:NúmeroTeléfono:Punto temporal:Proveedor:Nominal:
es-ES	Spanish (Spain)	Número de telefono del proveedor del servicio después del alta:Teléfono:Punto temporal:Proveedores:Nom: Synonyms: Número de teléfono (datos de HL7)
it-IT	Italian (Italy)	Provider post-dimissione, numero di telefono studio:Tele:Pt:Provider:Nom: Synonyms: Amministrativo Numero di telefono (HL7 datatype) Numero di telefono studio di provider post-dimissi Punto nel tempo (episodio)
ru-RU	Russian (Russian Federation)	После выбытие провайдер практика телефонный номер:Тел:ТчкВрм:Провайдер:Ном: Synonyms: Выписка Номинальный;Именной Телефонный номер (HL7 datatype) Точка во времени;Момент
zh-CN	Chinese (China)	出院后服务提供者执业机构电话号码:电话号码:时间点:服务提供者:名义型: Synonyms: XXX刺激 - 在...之后个数;数目之后于... 允许...离开(医院、军队);(从监狱)释放出院后服务提供者（服务提供方、服务提供人员、服务人员、服务工作人员、医务人员）执业机构（开业机构、执业、开业、从业）电话号码（电话号、电话号码、电话、手机号码、手机号、手机）;出院后服务提供人员执业电话号码;出院后服务提供方执业电话号码;出院后服务提供者执业电话分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答在...以后在后提供方;提供者;服务人员;服务提供方;服务方;服务机构;服务者无线电通讯号码;无线电通讯编号;电话号码(来自HL7);远程通信号码;远程通信编号;长途通信号码;长途通信编号时刻;随机;随意;瞬间电话行政;管理;施行;执行;经营

62329-8 Birth hospital facility ID

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Birth hospital facility ID
Property: ID
Time: Pt
System: Facility
Scale: Nom
Method

Additional Names

Short Name: Birth hospital ID
Display Name: Birth hospital facility ID Nom (Facility) [ID]
Consumer Name Alpha Get Info: Birth hospital facility ID

Basic Attributes

Class: ADMIN.FACILITY
Type: Clinical
First Released: Version 2.34
Last Updated: Version 2.67
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)
62863-6	PhenX domain - Infectious diseases and immunity

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	ID facilitada por el hospital de origen:Código identificador:Punto temporal:Facilidad:Nom:
es-MX	Spanish (Mexico)	Identificación de la instalación del hospital de nacimiento:ID:Punto temporal:Instalaciones:Nominal:
fr-FR	French (France)	ID hôpital de naissance:Identifiant:Ponctuel:Facilité:Résultat nominal:
it-IT	Italian (Italy)	Ospedale di nascita, ID struttura:ID:Pt:Struttura:Nom: Synonyms: Amministrativo ID ospedale di nascita Identificatore Punto nel tempo (episodio) Struttura
nl-NL	Dutch (Netherlands)	geboorteziekenhuis ID:identificator:moment:faciliteit:nominaal:
ru-RU	Russian (Russian Federation)	Рождение госпиталь учреждение ID:ID:ТчкВрм:Учреждение:Ном: Synonyms: Идентификатор Идентификатор медицинской организации, зафиксировавшей рождение Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Doğum hastanesi tesis ID:Tnmlyc:Zmlı:Tesis:Snf:
zh-CN	Chinese (China)	出生医院设施标识符:标识符:时间点:设施:名义型: Synonyms: 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答时刻;随机;随意;瞬间标志标志符标识标识;身份标识符;身份标识标识符标识符（Identifier，ID）病院皮下皮下的皮内皮内（Intradermal，ID）皮内的皮层内皮层内的真皮下真皮下的真皮内的行政;管理;施行;执行;经营行政管理（行政、管理、施行、执行、经营）.设施（场所、设备、特别装置、服务特色）识别识别符院

Related Codes

Code System	Code	Code Text	Code Version
https://www.phenxtoolkit.org	PX161601010100	PX161601_Birth_Hospital

62330-6 Birth hospital facility name

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Birth hospital facility name
Property: ID
Time: Pt
System: Facility
Scale: Nom
Method

Additional Names

Short Name: Birth hospital name
Display Name: Birth hospital facility name Nom (Facility) [ID]
Consumer Name Alpha Get Info: Birth hospital facility name

Basic Attributes

Class: ADMIN.FACILITY
Type: Clinical
First Released: Version 2.34
Last Updated: Version 2.67
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Nombre facilitado por el hospital de origen:Código identificador:Punto temporal:Facilidad:Nom:
es-MX	Spanish (Mexico)	Nombre de la instalación del hospital de nacimiento:ID:Punto temporal:Instalaciones:Nominal:
fr-FR	French (France)	Nom hôpital de naissance:Identifiant:Ponctuel:Facilité:Résultat nominal:
it-IT	Italian (Italy)	Ospedale di nascita, nome struttura:ID:Pt:Struttura:Nom: Synonyms: Amministrativo Identificatore Nome ospedale di nascita Punto nel tempo (episodio) Struttura
nl-NL	Dutch (Netherlands)	geboorteziekenhuis naam:identificator:moment:faciliteit:nominaal:
ru-RU	Russian (Russian Federation)	Рождение госпиталь учреждение наименование:ID:ТчкВрм:Учреждение:Ном: Synonyms: Идентификатор Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Doğum hastanesi tesis adı:Tnmlyc:Zmlı:Tesis:Snf:
zh-CN	Chinese (China)	出生医院设施名称:标识符:时间点:设施:名义型: Synonyms: 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答姓名;名字;名时刻;随机;随意;瞬间标识;身份标识符;身份标识病院行政;管理;施行;执行;经营行政管理（行政、管理、施行、执行、经营）.设施（场所、设备、特别装置、服务特色）院

62331-4 Birth hospital facility address

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Birth hospital facility address
Property: Addr
Time: Pt
System: Facility
Scale: Nom
Method

Additional Names

Short Name: Birth hospital address
Display Name: Birth hospital facility address Nom (Facility)
Consumer Name Alpha Get Info: Birth hospital facility address

Basic Attributes

Class: ADMIN.FACILITY
Type: Clinical
First Released: Version 2.34
Last Updated: Version 2.67
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Dirección facilitada por el hospital de origen:Dirección:Punto temporal:Facilidad:Nom:
es-MX	Spanish (Mexico)	Dirección de la instalación del hospital de nacimiento:Dirección:Punto temporal:Instalaciones:Nominal:
fr-FR	French (France)	Adresse hôpital de naissance:Adresse:Ponctuel:Facilité:Résultat nominal:
it-IT	Italian (Italy)	Ospedale di nascita, indirizzo struttura:Addr:Pt:Struttura:Nom: Synonyms: Amministrativo Indirizzo (HL7 data type) Indirizzo ospedale di nascita Punto nel tempo (episodio) Struttura
nl-NL	Dutch (Netherlands)	geboorteziekenhuis adres:adres (HL7-datatype):moment:faciliteit:nominaal:
ru-RU	Russian (Russian Federation)	Рождение госпиталь учреждение адрес:Адр:ТчкВрм:Учреждение:Ном: Synonyms: Адрес (HL7 data type) Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Doğum hastanesi tesis adresi:Adr:Zmlı:Tesis:Snf:
zh-CN	Chinese (China)	出生医院设施地址:地址:时间点:设施:名义型: Synonyms: 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答地址(来自HL7) 时刻;随机;随意;瞬间病院行政;管理;施行;执行;经营行政管理（行政、管理、施行、执行、经营）.设施（场所、设备、特别装置、服务特色）院

62332-2 Birth hospital facility phone number

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Birth hospital facility phone number
Property: Tele
Time: Pt
System: Facility
Scale: Nom
Method

Additional Names

Short Name: Birth hospital phone #
Display Name: Birth hospital facility phone number Nom (Facility)
Consumer Name Alpha Get Info: Birth hospital facility phone number

Basic Attributes

Class: ADMIN.FACILITY
Type: Clinical
First Released: Version 2.34
Last Updated: Version 2.66
Change Reason: Updated Class from "LAB" to "ADMIN".
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Número de teléfono facilitado por el hospital de origen:Teléfono:Punto temporal:Facilidad:Nom: Synonyms: Número de teléfono (datos de HL7)
es-MX	Spanish (Mexico)	Número de teléfono de la instalación del hospital de nacimiento:NúmeroTeléfono:Punto temporal:Instalaciones:Nominal:
fr-FR	French (France)	Numéro de téléphone hôpital de naissance:Numéro de téléphone:Ponctuel:Facilité:Résultat nominal:
it-IT	Italian (Italy)	Ospedale di nascita, numero di telefono struttura:Tele:Pt:Struttura:Nom: Synonyms: Amministrativo Numero di telefono (HL7 datatype) Numero di telefono ospedale di nascita Punto nel tempo (episodio) Struttura
nl-NL	Dutch (Netherlands)	geboorteziekenhuis telefoonnummer:telefoonnummer (HL7-datatype):moment:faciliteit:nominaal:
ru-RU	Russian (Russian Federation)	Рождение госпиталь учреждение телефонный номер:Тел:ТчкВрм:Учреждение:Ном: Synonyms: Номинальный;Именной Телефонный номер (HL7 datatype) Точка во времени;Момент
tr-TR	Turkish (Turkey)	Doğum hastanesi telefon numarası:Tel:Zmlı:Tesis:Snf:
zh-CN	Chinese (China)	出生医院设施电话号码:电话号码:时间点:设施:名义型: Synonyms: 个数;数目分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答无线电通讯号码;无线电通讯编号;电话号码(来自HL7);远程通信号码;远程通信编号;长途通信号码;长途通信编号时刻;随机;随意;瞬间电话病院行政;管理;施行;执行;经营行政管理（行政、管理、施行、执行、经营）.设施（场所、设备、特别装置、服务特色）院

54089-8

Newborn screening panel American Health Information Community (AHIC)

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73738-7 Newborn screening test results panel - Point of Care

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54111-0 Newborn hearing screening panel

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57700-7 Hearing loss newborn screening comment/discussion

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58232-0 Hearing loss risk indicators [Identifier]

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Preferred Answer List LL862-4

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54106-0 Newborn hearing screen method

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Preferred Answer List LL617-2

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73741-1 Newborn hearing screen panel - Left Ear

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54108-6 Newborn hearing screen of Ear - left

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Preferred Answer List LL618-0

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73740-3 Screening duration of Ear - left

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73739-5 Newborn hearing screen reason not performed of Ear - left

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Preferred Answer List LL2769-9

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