LOINC Panel Details 75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

43993-5 Age at delivery

Observation Required in Panel

Required

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Age.at delivery
Property: Time
Time: Pt
System: ^Patient
Scale: Qn
Method

Additional Names

Short Name: Age at delivery

Basic Attributes

Class: OB.US
Type: Clinical
First Released: Version 2.17
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 2477

Member of these Panels

LOINC	Long Common Name
58735-2	Alpha-1-Fetoprotein panel - Amniotic fluid
48802-3	Alpha-1-Fetoprotein panel - Serum or Plasma
49085-4	First and Second trimester integrated maternal screen panel
48798-3	First trimester maternal screen panel - Serum or Plasma
49086-2	First trimester maternal screen with nuchal translucency panel
49087-0	Maternal screen clinical predictors panel
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
48799-1	Second trimester penta maternal screen panel - Serum or Plasma
48800-7	Second trimester quad maternal screen panel - Serum or Plasma
35086-8	Second trimester triple maternal screen panel - Serum or Plasma

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Edad al momento del parto:Tiempo:Punto temporal:^ Paciente:Cuantitativo:
it-IT	Italian (Italy)	Età.al parto:Tempo:Pt:^Paziente:Qn: Synonyms: Ecografia ostetrica Età al momento del parto paziente Punto nel tempo (episodio) Tempo (e.g. secondi)
nl-NL	Dutch (Netherlands)	leeftijd van moeder bij geboorte:tijd:moment:^patiënt:kwantitatief:
pt-BR	Portuguese (Brazil)	Idade.no momento do parto:Tempo:Pt:^Paciente:Qn: Synonyms: Point in time; Random; Quantitative; QNT; Quant; Quan; OBSTERICAL.ULTRASOUND; OBSTERICAL.ULTRASOUND; Obstetrical; Obstetrics
ru-RU	Russian (Russian Federation)	Возраст.в родах:Время:ТчкВрм:^Пациент:Колич: Synonyms: Возраст женщины на момент родов Время (в т.ч. в секундах) Количественный Точка во времени;Момент
tr-TR	Turkish (Turkey)	Yaş.doğumda:Süre:Zmlı:^Hasta:Kant:
zh-CN	Chinese (China)	年龄.分娩时:时间:时间点:^患者:定量型: Synonyms: 产科产科.超声;产科.超声.印象与测量指标;产科学.超声;产科学.超声.印象与测量指标;产科学检查与测量指标.超声.印象与测量指标;产科学超声印象与测量指标产科学分娩年龄医疗服务对象;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;连续数值型标尺时刻;随机;随意;瞬间时间(如秒);时间(如秒数)

Example Units

Unit	Source
a	Example UCUM Units

18185-9 Gestational age

Part Descriptions

LP19507-0 Gestational age
The age of the conceptus, beginning from the time of fertilization. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last menstruation which is about 2 weeks before ovulation and fertilization. Source: National Library of Medicine, MeSH 2006

Reference Information

Type	Source	Reference
Mapping Guidance	Regenstrief Help	This term is preferred over the two separate terms for gestational age in weeks [LOINC: 49051-6] and in days [LOINC: 49052-4] so that only one variable is used. Mapper’s Guide for the Top 2000 plus LOINC Laboratory Observations

Observation Required in Panel

Required

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component: Gestational age
Property: Time
Time: Pt
System: ^Fetus
Scale: Qn
Method

Additional Names

Short Name: GA

Basic Attributes

Class: OB.US
Type: Clinical
First Released: Version 1.0l
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 1105

Member of these Panels

LOINC	Long Common Name
76478-7	Acetylcholinesterase panel - Amniotic fluid
58735-2	Alpha-1-Fetoprotein panel - Amniotic fluid
48802-3	Alpha-1-Fetoprotein panel - Serum or Plasma
75199-0	Congenital syphilis case investigation and report panel [CDC.CS]
49085-4	First and Second trimester integrated maternal screen panel
48798-3	First trimester maternal screen panel - Serum or Plasma
49086-2	First trimester maternal screen with nuchal translucency panel
49087-0	Maternal screen clinical predictors panel
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
100230-2	Routine prenatal assessment panel
48799-1	Second trimester penta maternal screen panel - Serum or Plasma
48800-7	Second trimester quad maternal screen panel - Serum or Plasma
35086-8	Second trimester triple maternal screen panel - Serum or Plasma

Member of these Groups Get Info

LOINC Group	Group Name
LG50112-8	Gestational ageTime^Fetus

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Edad gestacional:Tiempo:Punto temporal:^ Feto:Cuantitativo:
es-AR	Spanish (Argentina)	edad gestacional:tiempo:punto en el tiempo:^feto:cuantitativo:
es-ES	Spanish (Spain)	Edad gestacional:Tiempo:Punto temporal:^Feto:Qn: Synonyms: Cuantitativo
et-EE	Estonian (Estonia)	Raseduse kestus:Aeg:Pt:^loode:Qn: Synonyms: Juhuslik Kvantitatiivne
fr-FR	French (France)	Âge gestationnel:Temps:Ponctuel:Concerne le foetus:Numérique:
fr-BE	French (Belgium)	Age gestationnel:Durée:Temps ponctuel:^Foetus:Quantitatif:
it-IT	Italian (Italy)	Età gestazionale:Tempo:Pt:^feto:Qn: Synonyms: Ecografia ostetrica Punto nel tempo (episodio) Tempo (e.g. secondi)
nl-NL	Dutch (Netherlands)	zwangerschapsduur:tijd:moment:^foetus:kwantitatief:
pt-BR	Portuguese (Brazil)	Idade gestacional:Tempo:Pt:^Feto:Qn: Synonyms: ; GA; Point in time; Random; Fet; Fetal; Quantitative; QNT; Quant; Quan; Gest; Gestation; Prenatal; OBSTERICAL.ULTRASOUND; OBSTERICAL.ULTRASOUND; Obstetrical; Obstetrics
ru-RU	Russian (Russian Federation)	Гестационный возраст:Время:ТчкВрм:^Плод:Колич: Synonyms: Время (в т.ч. в секундах) Гестационный срок Количественный Точка во времени;Момент
tr-TR	Turkish (Turkey)	Doğurma yaşı:Süre:Zmlı:^Fetus:Kant: Synonyms: Gestasyonel yaş
uk-UA	Ukrainian (Ukraine)	Гестаційний вік:Час:МоментЧасу:^Плід:Кількісно: Synonyms: Fetal; GA; Gest; Gestation; Gyn; Gynecology; OB; ObGyn; OBSTERICAL; OBSTERICAL.ULTRASOUND; Obstetrical; Obstetrics; Point in time; Prenatal; QNT; Quan; Quant; Quantitative; Random
zh-CN	Chinese (China)	孕龄:时间:时间点:^胎儿:定量型: Synonyms: 产科产科.超声;产科.超声.印象与测量指标;产科学.超声;产科学.超声.印象与测量指标;产科学检查与测量指标.超声.印象与测量指标;产科学超声印象与测量指标产科学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) 胎;超系统 - 胎儿胎龄;Gestational Age;GA

Example Units

Unit	Source
wk	Example UCUM Units
week	REGENSTRIEF

Related Codes

Code System	Code	Code Text	Code Version
https://www.phenxtoolkit.org	PX241501100100	PX241501_Fetal_Growth_Assessment_Estimated_Weight_Medical_Record_Abstraction_Gestational_Age_Weeks

75607-2 Paternal sample received Qualitative

Part Descriptions

LP185911-7 Paternal sample received
Paternal sample received is an indicator of whether a specimen from the father was sent to the testing laboratory. Paternal and maternal samples are relevant for prenatal fetal or postnatal testing for genetic disorders or paternity. Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component: Paternal sample received
Property: Find
Time: Pt
System: ^Father
Scale: Ord
Method

Additional Names

Short Name: Pat sample rec Father Ql
Display Name: Paternal Sample Received
Consumer Name Alpha Get Info: Paternal Sample Received

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Order vs. Observation: Observation

Example Answer List LL361-7

Answer	Code	Score	Answer ID
Yes Copyright http://snomed.info/sct ID:373066001 Yes (qualifier value)			LA33-6
No Copyright http://snomed.info/sct ID:373067005 No (qualifier value)			LA32-8

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Muestra paterna recibida:Hallazgo:Punto temporal:^ Padre:Ordinal:
es-ES	Spanish (Spain)	Muestra paterna recibida:Hallazgo:Punto temporal:^Padre:Ord:
fr-FR	French (France)	Échantillon du père reçu:Recherche:Ponctuel:Père:Qualitatif:
it-IT	Italian (Italy)	Campione paterno ricevuto:Osservazione:Pt:^padre:Ord: Synonyms: Osservazione Patologia molecolare Punto nel tempo (episodio)
tr-TR	Turkish (Turkey)	Paternal örnek alınmış:Bulgu:Zmlı:^baba:Srl:
zh-CN	Chinese (China)	已收到父方样本:发现:时间点:^父亲: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;顺序型分子病理学;分子病理学试验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;结论已收到（接收、接受、收悉、接到）父方（父亲、父亲方、父系、父本）样本（样品、标本、试样）时刻;随机;随意;瞬间爸爸;爸;父;爹

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.

75605-6 Cell-free DNA.fetal/Cell-free DNA.total in Plasma cell-free DNA by Dosage of chromosome-specific cfDNA

Observation Required in Panel

Required

Fully-Specified Name

Component: Cell-free DNA.fetal/Cell-free DNA.total
Property: SFr
Time: Pt
System: Plas.cfDNA
Scale: Qn
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: cfDNA.fet/cfDNA.total SFr Fetus
Display Name: Cell-free DNA.fetal/Cell-free DNA.total Dosage of chromosome-specific cfDNA (cfDNA) [Molar fraction]
Consumer Name Alpha Get Info: Fetal Cell-free DNA/Total Cell-free DNA, Cell-free DNA

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 6650

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	ADN libre de células ADN fetal / libre de células total:Fracción de sustancia:Punto temporal:ADN libre de células plasmáticas:Cuantitativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	ADN fetal libre de células/ADN total libre de células:Fraccion de sustancia:Punto temporal:ADN en plasma libre de células:Qn:Dosificación de ADN ccf de cromosoma específico Synonyms: Cuantitativo
fr-FR	French (France)	ADN libre foetal/ADN libre total:Fraction molaire:Ponctuel:Plasma avec ADN libre circulant:Numérique:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	DNA libero circolante.fetale/DNA libero circolante.totale:SFr:Pt:Plasma.DNA libero circolante:Qn:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: DNA fetale libero circolante DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Frazione di Sostanza Patologia molecolare Plasma Punto nel tempo (episodio)
pl-PL	Polish (Poland)	Pozakomórkowy DNA płodu/całkowita pula wolnego DNA:frakcja molowa:punkt w czasie:pozakomórkowy DNA w osoczu:ilościowy:dawkowanie swoistego dla chromosomu pozakomórkowego DNA
zh-CN	Chinese (China)	cfDNA.胎儿/cfDNA.总计:物质的量分数:时间点:血浆.cfDNA:定量型:染色体特异性 cfDNA 剂量测定 Synonyms: 克分子分数;摩尔分数全体数量全部共计分子病理学;分子病理学试验去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸（Deoxyribonucleic acid，DNA）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浆循环 cfDNA;总血浆循环 DNA;总循环游离核酸;总血浆游离 DNA;总血浆无细胞 DNA;Total free circulating/cell-free DNA;Total free circulating DNA 总量总额时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 汇总游离特异特异性的特异的胎儿血浆循环 cfDNA;胎儿血浆循环 DNA;胎儿循环游离核酸;胎儿血浆游离 DNA;胎儿血浆无细胞 DNA;Fetal free circulating/cell-free DNA;Fetal free circulating DNA 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA 非蛋白结合型非蛋白质结合型

Example Units

Unit	Source
%	Example UCUM Units

75606-4 Cell-free DNA.fetal/Cell-free DNA.total in Plasma cell-free DNA by Dosage of chromosome-specific cfDNA Narrative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component: Cell-free DNA.fetal/Cell-free DNA.total
Property: Find
Time: Pt
System: Plas.cfDNA
Scale: Nar
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: cfDNA.fet/total Plas.cfDNA
Display Name: Cell-free DNA.fetal/Cell-free DNA.total Dosage of chromosome-specific cfDNA Nar (cfDNA)
Consumer Name Alpha Get Info: Fetal Cell-free DNA/Total Cell-free DNA, Cell-free DNA

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 10540

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	ADN libre de células ADN fetal / libre de células total:Hallazgo:Punto temporal:ADN libre de células plasmáticas:Narrativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	ADN fetal libre de células/ADN total libre de células:Hallazgo:Punto temporal:ADN en plasma libre de células:Narrativo:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	ADN libre foetal/ADN libre total:Recherche:Ponctuel:Plasma avec ADN libre circulant:Résultat textuel:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	DNA libero circolante.fetale/DNA libero circolante.totale:Osservazione:Pt:Plasma.DNA libero circolante:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: DNA fetale libero circolante DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Osservazione Patologia molecolare Plasma Punto nel tempo (episodio)
pl-PL	Polish (Poland)	Pozakomórkowy DNA płodu/całkowita pula wolnego DNA:wynik:punkt w czasie:pozakomórkowy DNA w osoczu:opisowy:dawkowanie swoistego dla chromosomu pozakomórkowego DNA
zh-CN	Chinese (China)	cfDNA.胎儿/cfDNA.总计:发现:时间点:血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定 Synonyms: 全体数量全部共计分子病理学;分子病理学试验去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸（Deoxyribonucleic acid，DNA）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;文本描述型总总和总数总血浆循环 cfDNA;总血浆循环 DNA;总循环游离核酸;总血浆游离 DNA;总血浆无细胞 DNA;Total free circulating/cell-free DNA;Total free circulating DNA 总量总额时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 汇总游离特异特异性的特异的胎儿血浆循环 cfDNA;胎儿血浆循环 DNA;胎儿循环游离核酸;胎儿血浆游离 DNA;胎儿血浆无细胞 DNA;Fetal free circulating/cell-free DNA;Fetal free circulating DNA 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA 非蛋白结合型非蛋白质结合型

75604-9 Fetal sex in Cell-free+Maternal WBC DNA by Dosage of chromosome specific circulating cell free (ccf) DNA

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
Source: Regenstrief LOINC

Condition for Inclusion

Fetal sex will be included on the report if requested by the parent(s).

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Fetal sex
Property: Find
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Nom
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet sex cfDNA+DNA.Mat
Display Name: Sex Dosage of chromosome-specific cfDNA Nom (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal Sex

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Example Answer List LL2903-4

Answer	Code	Score	Answer ID
Female fetus			LA21135-1
Male fetus			LA21134-4
No result			LA21136-9

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Sexo fetal:Hallazgo:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Nominal:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Sexo fetal:Hallazgo:Punto temporal:ADN en plasma libre de células y leucocitos:Nom:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Sexe foetal:Recherche:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Résultat nominal:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Sesso fetale:Osservazione:Pt:WBC.DNA+Plas.cfDNA:Nom:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Osservazione Patologia molecolare Plasma Punto nel tempo (episodio)
zh-CN	Chinese (China)	胎儿性别:发现:时间点:白细胞.DNA+血浆.cfDNA:名义型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞分子病理学;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;结论性;性别特征;性行为;性交;性活动时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

75560-3 Fetal Trisomy 21 prior risk [Likelihood] Based on maternal age

Part Descriptions

LP185800-2 Based on maternal age
The fetal risk for having certain disorders, such as Trisomy 21, varies based on maternal age. For such disorders, an individual infant's risk can be estimated based on known population statistics for how many women in a particular age group have an infant born with the condition compared to the total number of pregnancies for that age group. For example, the fetal Trisomy 21 risk is 1 out of 1,000 for a maternal age of 30 and 1 out of 100 for a maternal age of 40. Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component: Trisomy 21 prior risk
Property: Likelihood
Time: Pt
System: ^Fetus
Scale: Qn
Method: Based on maternal age

Additional Names

Short Name: Fet Ts 21 prior risk from Mat age
Display Name: Trisomy 21 prior risk Based on maternal age Qn (fetus)
Consumer Name Alpha Get Info: Fetal Trisomy 21 prior risk

Basic Attributes

Class: MOLPATH.TRISOMY
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo previo de trisomía 21:Probabilidad:Punto temporal:^ Feto:Cuantitativo:Según la edad materna
es-ES	Spanish (Spain)	Riesgo previo de Trisomía 21:Probabilidad:Punto temporal:^Feto:Qn:Basado en edad materna Synonyms: Cuantitativo
fr-FR	French (France)	Risque prédominant trisomie 21:Probabilité:Ponctuel:Concerne le foetus:Numérique:Basé sur l'âge de la mère
it-IT	Italian (Italy)	Trisomia 21, rischio preesistente:Probabilità:Pt:^feto:Qn:basato sull'età materna Synonyms: Patologia molecolare Punto nel tempo (episodio) Rischio preesistente di trisomia 21 Trisomia cromosoma genetica
pl-PL	Polish (Poland)	Trisomia 21 - ryzyko wstępne:prawdopodobieństwo:punkt w czasie:^płód:ilościowy:na podstawie wieku matki
zh-CN	Chinese (China)	三体型 21 先验风险:似然性:时间点:^胎儿:定量型:基于母亲年龄的方法 Synonyms: 21 三体型综合征（唐氏综合征、Down 氏综合征、Down 综合征、21 三体性、21 号染色体三体型、21 号染色体三体性）三体型三体型 21 先验风险（事前风险、事先风险）;T21 prior risk;21 三体型综合征先验风险（危险性、风险性、危险）;21 三体型先验风险;21 三体性综合征先验风险;21 三体性先验风险;21 三体综合征先验风险;21 三体综合症先验风险;21 号染色体三体型先验风险;21 号染色体三体性先验风险;Down 氏综合征先验风险;Down 综合征先验风险;DS;T21 先验风险;Ts 21 先验风险;三体性 21 先验风险;唐氏综合征先验风险;染色体 21 三体型先验风险;染色体 21 三体性先验三体细胞三染色体性三染色体细胞分子病理学;分子病理学试验分子病理学试验类.三体性（三体型）可用数量表示的;定量性;数值型;数量型;连续数值型标尺可能性;似然;可能基于母亲（孕妇、产妇、妈妈）年龄的方法时刻;随机;随意;瞬间胎;超系统 - 胎儿

Example Units

Unit	Source
{risk}	Example UCUM Units

75562-9 Fetal Trisomy 21 prior risk [Likelihood] Based on maternal age Narrative

Part Descriptions

LP185800-2 Based on maternal age
The fetal risk for having certain disorders, such as Trisomy 21, varies based on maternal age. For such disorders, an individual infant's risk can be estimated based on known population statistics for how many women in a particular age group have an infant born with the condition compared to the total number of pregnancies for that age group. For example, the fetal Trisomy 21 risk is 1 out of 1,000 for a maternal age of 30 and 1 out of 100 for a maternal age of 40. Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component: Trisomy 21 prior risk
Property: Likelihood
Time: Pt
System: ^Fetus
Scale: Nar
Method: Based on maternal age

Additional Names

Short Name: Fet Ts 21 prior risk from Mat age
Display Name: Trisomy 21 prior risk Based on maternal age Nar (fetus)
Consumer Name Alpha Get Info: Fetal Trisomy 21 prior risk

Basic Attributes

Class: MOLPATH.TRISOMY
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo previo de trisomía 21:Probabilidad:Punto temporal:^ Feto:Narrativo:Según la edad materna
es-ES	Spanish (Spain)	Riesgo previo de Trisomía 21:Probabilidad:Punto temporal:^Feto:Narrativo:Basado en edad materna
fr-FR	French (France)	Risque prédominant trisomie 21:Probabilité:Ponctuel:Concerne le foetus:Résultat textuel:Basé sur l'âge de la mère
it-IT	Italian (Italy)	Trisomia 21, rischio preesistente:Probabilità:Pt:^feto:Nar:basato sull'età materna Synonyms: Patologia molecolare Punto nel tempo (episodio) Rischio preesistente di trisomia 21 Trisomia cromosoma genetica
pl-PL	Polish (Poland)	Trisomia 21 - ryzyko wstępne:prawdopodobieństwo:punkt w czasie:^płód:opisowy:na podstawie wieku matki
zh-CN	Chinese (China)	三体型 21 先验风险:似然性:时间点:^胎儿:叙述型:基于母亲年龄的方法 Synonyms: 21 三体型综合征（唐氏综合征、Down 氏综合征、Down 综合征、21 三体性、21 号染色体三体型、21 号染色体三体性）三体型三体型 21 先验风险（事前风险、事先风险）;T21 prior risk;21 三体型综合征先验风险（危险性、风险性、危险）;21 三体型先验风险;21 三体性综合征先验风险;21 三体性先验风险;21 三体综合征先验风险;21 三体综合症先验风险;21 号染色体三体型先验风险;21 号染色体三体性先验风险;Down 氏综合征先验风险;Down 综合征先验风险;DS;T21 先验风险;Ts 21 先验风险;三体性 21 先验风险;唐氏综合征先验风险;染色体 21 三体型先验风险;染色体 21 三体性先验三体细胞三染色体性三染色体细胞分子病理学;分子病理学试验分子病理学试验类.三体性（三体型）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;文本描述型可能性;似然;可能基于母亲（孕妇、产妇、妈妈）年龄的方法时刻;随机;随意;瞬间胎;超系统 - 胎儿

75561-1 Fetal Trisomy 21 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component: Fetal trisomy 21 risk
Property: Likelihood
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Qn
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet Ts 21 risk WBC.DNA+cfDNA Qn
Display Name: Trisomy 21 risk Dosage of chromosome-specific cfDNA Qn (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal Trisomy 21 risk

Basic Attributes

Class: MOLPATH.TRISOMY
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de trisomía 21 fetal:Probabilidad:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Cuantitativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de trisomía 21 fetal:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Qn:Dosificación de ADN ccf de cromosoma específico Synonyms: Cuantitativo
fr-FR	French (France)	Risque de trisomie 21 foetale:Probabilité:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Numérique:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Trisomia 21, rischio:Probabilità:Pt:WBC.DNA+Plas.cfDNA:Qn:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di trisomia 21 Trisomia cromosoma genetica
zh-CN	Chinese (China)	胎儿三体型 21 风险:似然性:时间点:白细胞.DNA+血浆.cfDNA:定量型:染色体特异性 cfDNA 剂量测定 Synonyms: 21 三体型综合征（唐氏综合征、Down 氏综合征、Down 综合征、21 三体性、21 号染色体三体型、21 号染色体三体性） 21 三体型综合征风险（危险性、风险性、危险）;21 三体型风险;21 三体性综合征风险;21 三体性风险;21 三体综合征风险;21 三体综合症风险;21 号染色体三体型风险;21 号染色体三体性风险;Down 氏综合征风险;Down 综合征风险;DS;T21 风险;Ts 21 风险;三体性 21 风险;唐氏综合征风险;染色体 21 三体型风险;染色体 21 三体性风险 WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞三体型三体细胞三染色体性三染色体细胞分子病理学;分子病理学试验分子病理学试验类.三体性（三体型）可用数量表示的;定量性;数值型;数量型;连续数值型标尺可能性;似然;可能时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 21 三体型综合征风险（危险性、风险性、危险）;胎儿 21 三体型风险;胎儿 21 三体性综合征风险;胎儿 21 三体性风险;胎儿 21 三体综合征风险;胎儿 21 三体综合症风险;胎儿 21 号染色体三体型风险;胎儿 21 号染色体三体性风险;胎儿 Down 氏综合征风险;胎儿 Down 综合征风险;胎儿 DS;胎儿 T21 风险;胎儿 Ts 21 风险;胎儿三体性 21 风险;胎儿唐氏综合征风险;胎儿染色体 21 三体型风险;胎儿染色体 21 三体性风险血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

Example Units

Unit	Source
{risk}	Example UCUM Units

75563-7 Fetal Trisomy 21 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component: Fetal trisomy 21 risk
Property: Likelihood
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Nar
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet Ts 21 risk WBC.DNA+cfDNA
Display Name: Trisomy 21 risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal Trisomy 21 risk

Basic Attributes

Class: MOLPATH.TRISOMY
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de trisomía 21 fetal:Probabilidad:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Narrativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de trisomía 21 fetal:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque de trisomie 21 foetale:Probabilité:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Résultat textuel:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Trisomia 21, rischio:Probabilità:Pt:WBC.DNA+Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di trisomia 21 Trisomia cromosoma genetica
zh-CN	Chinese (China)	胎儿三体型 21 风险:似然性:时间点:白细胞.DNA+血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定 Synonyms: 21 三体型综合征（唐氏综合征、Down 氏综合征、Down 综合征、21 三体性、21 号染色体三体型、21 号染色体三体性） 21 三体型综合征风险（危险性、风险性、危险）;21 三体型风险;21 三体性综合征风险;21 三体性风险;21 三体综合征风险;21 三体综合症风险;21 号染色体三体型风险;21 号染色体三体性风险;Down 氏综合征风险;Down 综合征风险;DS;T21 风险;Ts 21 风险;三体性 21 风险;唐氏综合征风险;染色体 21 三体型风险;染色体 21 三体性风险 WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞三体型三体细胞三染色体性三染色体细胞分子病理学;分子病理学试验分子病理学试验类.三体性（三体型）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;文本描述型可能性;似然;可能时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 21 三体型综合征风险（危险性、风险性、危险）;胎儿 21 三体型风险;胎儿 21 三体性综合征风险;胎儿 21 三体性风险;胎儿 21 三体综合征风险;胎儿 21 三体综合症风险;胎儿 21 号染色体三体型风险;胎儿 21 号染色体三体性风险;胎儿 Down 氏综合征风险;胎儿 Down 综合征风险;胎儿 DS;胎儿 T21 风险;胎儿 Ts 21 风险;胎儿三体性 21 风险;胎儿唐氏综合征风险;胎儿染色体 21 三体型风险;胎儿染色体 21 三体性风险血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

75564-5 Fetal Trisomy 21 risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component: Fetal trisomy 21 risk
Property: Imp
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Ord
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet Ts 21 risk WBC.DNA+cfDNA Ql
Display Name: Trisomy 21 risk Dosage of chromosome-specific cfDNA Ql (Plasma cell-free+WBC DNA) [Interp]
Consumer Name Alpha Get Info: Fetal Trisomy 21 risk

Basic Attributes

Class: MOLPATH.TRISOMY
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Example Answer List LL3000-8

Answer	Code	Score	Answer ID
Low risk			LA19542-2
High risk			LA19541-4
Risk unchanged			LA21393-6
Test not performed Copyright http://snomed.info/sct ID:262008008 Not performed (qualifier value)			LA13546-9

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de trisomía 21 fetal:Impresión / interpretación del estudio:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Ordinal:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de trisomía 21 fetal:Impresión/interpretación del estudio:Punto temporal:ADN en plasma libre de células y leucocitos:Ord:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque de trisomie 21 foetale:Interprétation:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Qualitatif:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Trisomia 21, rischio:Imp:Pt:WBC.DNA+Plas.cfDNA:Ord:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di trisomia 21 Trisomia cromosoma genetica
zh-CN	Chinese (China)	胎儿三体型 21 风险:印象:时间点:白细胞.DNA+血浆.cfDNA:序数型:染色体特异性 cfDNA 剂量测定 Synonyms: 21 三体型综合征（唐氏综合征、Down 氏综合征、Down 综合征、21 三体性、21 号染色体三体型、21 号染色体三体性） 21 三体型综合征风险（危险性、风险性、危险）;21 三体型风险;21 三体性综合征风险;21 三体性风险;21 三体综合征风险;21 三体综合症风险;21 号染色体三体型风险;21 号染色体三体性风险;Down 氏综合征风险;Down 综合征风险;DS;T21 风险;Ts 21 风险;三体性 21 风险;唐氏综合征风险;染色体 21 三体型风险;染色体 21 三体性风险 WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞三体型三体细胞三染色体性三染色体细胞依次型;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;顺序型分子病理学;分子病理学试验分子病理学试验类.三体性（三体型）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;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 21 三体型综合征风险（危险性、风险性、危险）;胎儿 21 三体型风险;胎儿 21 三体性综合征风险;胎儿 21 三体性风险;胎儿 21 三体综合征风险;胎儿 21 三体综合症风险;胎儿 21 号染色体三体型风险;胎儿 21 号染色体三体性风险;胎儿 Down 氏综合征风险;胎儿 Down 综合征风险;胎儿 DS;胎儿 T21 风险;胎儿 Ts 21 风险;胎儿三体性 21 风险;胎儿唐氏综合征风险;胎儿染色体 21 三体型风险;胎儿染色体 21 三体性风险血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

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75565-2 Comment on fetal Trisomy 21 risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
Source: Regenstrief LOINC

Part Descriptions

LP185987-7 Comment on fetal Trisomy 21 risk
Trisomy 21 risk refers to the fetus's risk of having trisomy 21. The risk can be estimated based on maternal age, prenatal genetic testing of fetal DNA, various maternal lab tests, and fetal nuchal translucency or nuchal fold measurements. Trisomy 21, also called Down syndrome, is caused by the presence of three copies of either the entire chromosome 21 or a crucial region of chromosome 21 in each cell rather than two. Down syndrome is associated with cognitive delay, various forms of congenital heart disease, hearing loss, and leukemia, and characteristic physical features. The risk for Down syndrome increases with increasing maternal age. The general population risk of Down syndrome is 1 out of 650 to 1,000 live births; for a 30-year-old woman, the risk is 1 out of 1,000, while for a 40-year-old woman it nears 1 out of 100. [OMIM: 190685] Source: Regenstrief LOINC, OMIM: 190685

LP185987-7 Comment on fetal Trisomy 21 risk
The genetic counselor's comment regarding risk of a specific disorder or group of disorders is used to convey follow-up recommendations or other information related to the risk result and interpretation. Source: Regenstrief LOINC

Condition for Inclusion

If fetal trisomy 21 risk is high, a genetic counselor comment should be included.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Comment on fetal Trisomy 21 risk
Property: Txt
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Nar
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet Ts 21 risk comment
Display Name: Comment on Trisomy 21 risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal Comment on trisomy 21 risk

Basic Attributes

Class: MOLPATH.TRISOMY
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Release 2.70: COMPONENT: Removed "Genetic counselor" to broaden use since various specialists may provide comments on test results.; Previous Releases: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Comentario del asesor genético sobre el riesgo de trisomía 21 fetal:Texto:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Narrativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Comentario de consejo genético en riesgo de Trisomía 21:Texto:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque trisomie 21 foetale (commentaire du conseiller génétique):Texte:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Résultat textuel:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Commento su rischio Trisomia 21:Txt:Pt:WBC.DNA+Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di trisomia 21 Testo Trisomia cromosoma genetica
pl-PL	Polish (Poland)	Komentarz dotyczący ryzyka trisomii 21 u płodu:tekst:punkt w czasie:pozakomórkowy DNA leukocytów w osoczu:opisowy:dawkowanie swoistego dla chromosomu pozakomórkowego DNA
zh-CN	Chinese (China)	关于胎儿三体型 21 风险的遗传咨询师意见:文本型属性:时间点:白细胞.DNA+血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定 Synonyms: 21 三体型综合征（唐氏综合征、Down 氏综合征、Down 综合征、21 三体性、21 号染色体三体型、21 号染色体三体性） 21 三体型综合征风险（危险性、风险性、危险）;21 三体型风险;21 三体性综合征风险;21 三体性风险;21 三体综合征风险;21 三体综合症风险;21 号染色体三体型风险;21 号染色体三体性风险;Down 氏综合征风险;Down 综合征风险;DS;T21 风险;Ts 21 风险;三体性 21 风险;唐氏综合征风险;染色体 21 三体型风险;染色体 21 三体性风险 WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞三体型三体细胞三染色体性三染色体细胞关于胎儿三体型 21 （21 三体型综合征、21 三体型、21 三体性综合征、21 三体性、21 三体综合征、21 三体综合症、21 号染色体三体型、21 号染色体三体性、Down 氏综合征、Down 综合征、DS;T21 、Ts 21 、三体性 21 、唐氏综合征、染色体 21 三体型、染色体 21 三体性）风险（危险性、风险性、危险）的遗传咨询师（遗传病辅导员、基因咨询师、遗传谘询师、基因谘询师）意见（评论、解释、注释、注解、点评）分子病理学;分子病理学试验分子病理学试验类.三体性（三体型）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;文本属性时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 注解特异特异性的特异的短评胎儿 21 三体型综合征风险（危险性、风险性、危险）;胎儿 21 三体型风险;胎儿 21 三体性综合征风险;胎儿 21 三体性风险;胎儿 21 三体综合征风险;胎儿 21 三体综合症风险;胎儿 21 号染色体三体型风险;胎儿 21 号染色体三体性风险;胎儿 Down 氏综合征风险;胎儿 Down 综合征风险;胎儿 DS;胎儿 T21 风险;胎儿 Ts 21 风险;胎儿三体性 21 风险;胎儿唐氏综合征风险;胎儿染色体 21 三体型风险;胎儿染色体 21 三体性风险血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA 解说解释评定评注评论评语说明

75554-6 Fetal Trisomy 18 prior risk [Likelihood] Based on maternal age

Part Descriptions

LP185800-2 Based on maternal age
The fetal risk for having certain disorders, such as Trisomy 21, varies based on maternal age. For such disorders, an individual infant's risk can be estimated based on known population statistics for how many women in a particular age group have an infant born with the condition compared to the total number of pregnancies for that age group. For example, the fetal Trisomy 21 risk is 1 out of 1,000 for a maternal age of 30 and 1 out of 100 for a maternal age of 40. Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component: Trisomy 18 prior risk
Property: Likelihood
Time: Pt
System: ^Fetus
Scale: Qn
Method: Based on maternal age

Additional Names

Short Name: Fet Ts 18 prior risk from Mat age
Display Name: Trisomy 18 prior risk Based on maternal age Qn (fetus)
Consumer Name Alpha Get Info: Fetal Trisomy 18 prior risk

Basic Attributes

Class: MOLPATH.TRISOMY
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Trisomía 18 riesgo previo:Probabilidad:Punto temporal:^ Feto:Cuantitativo:Según la edad materna
es-ES	Spanish (Spain)	Riesgo previo de Trisomía 18:Probabilidad:Punto temporal:^Feto:Qn:Basado en edad materna Synonyms: Cuantitativo
fr-FR	French (France)	Risque prédominant trisomie 18:Probabilité:Ponctuel:Concerne le foetus:Numérique:Basé sur l'âge de la mère
it-IT	Italian (Italy)	Trisomia 18, rischio preesistente:Probabilità:Pt:^feto:Qn:basato sull'età materna Synonyms: Patologia molecolare Punto nel tempo (episodio) Rischio preesistente di trisomia 13 Trisomia cromosoma genetica
pl-PL	Polish (Poland)	Trisomia 18 - ryzyko wstępne:prawdopodobieństwo:punkt w czasie:^płód:ilościowy:na podstawie wieku matki
zh-CN	Chinese (China)	三体型 18 先验风险:似然性:时间点:^胎儿:定量型:基于母亲年龄的方法 Synonyms: 三体型三体型 18 先验风险（事前风险、事先风险）;T18 prior risk;18 三体型综合征先验风险（危险性、风险性、危险）;18 三体型先验风险;18 三体性综合征先验风险;18 三体性先验风险;18 三体综合征先验风险;18 三体综合症先验风险;18 号染色体三体型先验风险;18 号染色体三体性先验风险;三体性 18 先验风险;染色体 18 三体型先验风险;染色体 18 三体性先验风险;爱德华兹综合征先验风险;爱德华氏综合征先验风险;Edwards syndrome prior risk;T18 p 三体细胞三染色体性三染色体细胞分子病理学;分子病理学试验分子病理学试验类.三体性（三体型）可用数量表示的;定量性;数值型;数量型;连续数值型标尺可能性;似然;可能基于母亲（孕妇、产妇、妈妈）年龄的方法时刻;随机;随意;瞬间胎;超系统 - 胎儿

Example Units

Unit	Source
{risk}	Example UCUM Units

75556-1 Fetal Trisomy 18 prior risk [Likelihood] Based on maternal age Narrative

Part Descriptions

LP185800-2 Based on maternal age
The fetal risk for having certain disorders, such as Trisomy 21, varies based on maternal age. For such disorders, an individual infant's risk can be estimated based on known population statistics for how many women in a particular age group have an infant born with the condition compared to the total number of pregnancies for that age group. For example, the fetal Trisomy 21 risk is 1 out of 1,000 for a maternal age of 30 and 1 out of 100 for a maternal age of 40. Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component: Trisomy 18 prior risk
Property: Likelihood
Time: Pt
System: ^Fetus
Scale: Nar
Method: Based on maternal age

Additional Names

Short Name: Fet Ts 18 prior risk from Mat age
Display Name: Trisomy 18 prior risk Based on maternal age Nar (fetus)
Consumer Name Alpha Get Info: Fetal Trisomy 18 prior risk

Basic Attributes

Class: MOLPATH.TRISOMY
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Trisomía 18 riesgo previo:Probabilidad:Punto temporal:^ Feto:Narrativo:Según la edad materna
es-ES	Spanish (Spain)	Riesgo previo de Trisomía 18:Probabilidad:Punto temporal:^Feto:Narrativo:Basado en edad materna
fr-FR	French (France)	Risque prédominant trisomie 18:Probabilité:Ponctuel:Concerne le foetus:Résultat textuel:Basé sur l'âge de la mère
it-IT	Italian (Italy)	Trisomia 18, rischio preesistente:Probabilità:Pt:^feto:Nar:basato sull'età materna Synonyms: Patologia molecolare Punto nel tempo (episodio) Rischio preesistente di trisomia 13 Trisomia cromosoma genetica
pl-PL	Polish (Poland)	Trisomia 18 - ryzyko wstępne:prawdopodobieństwo:punkt w czasie:^płód:opisowy:na podstawie wieku matki
zh-CN	Chinese (China)	三体型 18 先验风险:似然性:时间点:^胎儿:叙述型:基于母亲年龄的方法 Synonyms: 三体型三体型 18 先验风险（事前风险、事先风险）;T18 prior risk;18 三体型综合征先验风险（危险性、风险性、危险）;18 三体型先验风险;18 三体性综合征先验风险;18 三体性先验风险;18 三体综合征先验风险;18 三体综合症先验风险;18 号染色体三体型先验风险;18 号染色体三体性先验风险;三体性 18 先验风险;染色体 18 三体型先验风险;染色体 18 三体性先验风险;爱德华兹综合征先验风险;爱德华氏综合征先验风险;Edwards syndrome prior risk;T18 p 三体细胞三染色体性三染色体细胞分子病理学;分子病理学试验分子病理学试验类.三体性（三体型）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;文本描述型可能性;似然;可能基于母亲（孕妇、产妇、妈妈）年龄的方法时刻;随机;随意;瞬间胎;超系统 - 胎儿

75555-3 Fetal Trisomy 18 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component: Fetal trisomy 18 risk
Property: Likelihood
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Qn
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet Ts 18 risk WBC.DNA+cfDNA Qn
Display Name: Trisomy 18 risk Dosage of chromosome-specific cfDNA Qn (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal Trisomy 18 risk

Basic Attributes

Class: MOLPATH.TRISOMY
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de trisomía 18 fetal:Probabilidad:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Cuantitativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de trisomía 18 fetal:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Qn:Dosificación de ADN ccf de cromosoma específico Synonyms: Cuantitativo
fr-FR	French (France)	Risque de trisomie 18 foetale:Probabilité:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Numérique:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Trisomia 18, rischio:Probabilità:Pt:WBC.DNA+Plas.cfDNA:Qn:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di trisomia 18 Trisomia cromosoma genetica
zh-CN	Chinese (China)	胎儿三体型 18 风险:似然性:时间点:白细胞.DNA+血浆.cfDNA:定量型:染色体特异性 cfDNA 剂量测定 Synonyms: 18 三体型综合征风险（危险性、风险性、危险）;18 三体型风险;18 三体性综合征风险;18 三体性风险;18 三体综合征风险;18 号染色体三体型风险;18 号染色体三体性风险;T18 风险;Ts 18 风险;三体性 18 风险;染色体 18 三体型风险;染色体 18 三体性风险;爱德华兹综合征风险;Edwards 综合征风险;Edward 综合征风险 WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞三体型三体细胞三染色体性三染色体细胞分子病理学;分子病理学试验分子病理学试验类.三体性（三体型）可用数量表示的;定量性;数值型;数量型;连续数值型标尺可能性;似然;可能时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 18 三体型综合征风险（危险性、风险性、危险）;胎儿 18 三体型风险;胎儿 18 三体性综合征风险;胎儿 18 三体性风险;胎儿 18 三体综合征风险;胎儿 18 号染色体三体型风险;胎儿 18 号染色体三体性风险;胎儿 T18 风险;胎儿 Ts 18 风险;胎儿三体性 18 风险;胎儿染色体 18 三体型风险;胎儿染色体 18 三体性风险;胎儿爱德华兹综合征风险;胎儿Edwards 综合征风险;胎儿 Edward 综合征风险血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

Example Units

Unit	Source
{risk}	Example UCUM Units

75557-9 Fetal Trisomy 18 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component: Fetal trisomy 18 risk
Property: Likelihood
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Nar
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet Ts 18 risk WBC.DNA+cfDNA
Display Name: Trisomy 18 risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal Trisomy 18 risk

Basic Attributes

Class: MOLPATH.TRISOMY
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de trisomía 18 fetal:Probabilidad:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Narrativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de trisomía 18 fetal:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque de trisomie 18 foetale:Probabilité:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Résultat textuel:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Trisomia 18, rischio:Probabilità:Pt:WBC.DNA+Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di trisomia 18 Trisomia cromosoma genetica
zh-CN	Chinese (China)	胎儿三体型 18 风险:似然性:时间点:白细胞.DNA+血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定 Synonyms: 18 三体型综合征风险（危险性、风险性、危险）;18 三体型风险;18 三体性综合征风险;18 三体性风险;18 三体综合征风险;18 号染色体三体型风险;18 号染色体三体性风险;T18 风险;Ts 18 风险;三体性 18 风险;染色体 18 三体型风险;染色体 18 三体性风险;爱德华兹综合征风险;Edwards 综合征风险;Edward 综合征风险 WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞三体型三体细胞三染色体性三染色体细胞分子病理学;分子病理学试验分子病理学试验类.三体性（三体型）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;文本描述型可能性;似然;可能时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 18 三体型综合征风险（危险性、风险性、危险）;胎儿 18 三体型风险;胎儿 18 三体性综合征风险;胎儿 18 三体性风险;胎儿 18 三体综合征风险;胎儿 18 号染色体三体型风险;胎儿 18 号染色体三体性风险;胎儿 T18 风险;胎儿 Ts 18 风险;胎儿三体性 18 风险;胎儿染色体 18 三体型风险;胎儿染色体 18 三体性风险;胎儿爱德华兹综合征风险;胎儿Edwards 综合征风险;胎儿 Edward 综合征风险血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

75558-7 Fetal Trisomy 18 risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component: Fetal trisomy 18 risk
Property: Imp
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Ord
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet Ts 18 risk WBC.DNA+cfDNA Ql
Display Name: Trisomy 18 risk Dosage of chromosome-specific cfDNA Ql (Plasma cell-free+WBC DNA) [Interp]
Consumer Name Alpha Get Info: Fetal Trisomy 18 risk

Basic Attributes

Class: MOLPATH.TRISOMY
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Example Answer List LL3000-8

Answer	Code	Score	Answer ID
Low risk			LA19542-2
High risk			LA19541-4
Risk unchanged			LA21393-6
Test not performed Copyright http://snomed.info/sct ID:262008008 Not performed (qualifier value)			LA13546-9

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de trisomía 18 fetal:Impresión / interpretación del estudio:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Ordinal:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de trisomía 18 fetal:Impresión/interpretación del estudio:Punto temporal:ADN en plasma libre de células y leucocitos:Ord:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque de trisomie 18 foetale:Interprétation:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Qualitatif:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Trisomia 18, rischio:Imp:Pt:WBC.DNA+Plas.cfDNA:Ord:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di trisomia 18 Trisomia cromosoma genetica
zh-CN	Chinese (China)	胎儿三体型 18 风险:印象:时间点:白细胞.DNA+血浆.cfDNA:序数型:染色体特异性 cfDNA 剂量测定 Synonyms: 18 三体型综合征风险（危险性、风险性、危险）;18 三体型风险;18 三体性综合征风险;18 三体性风险;18 三体综合征风险;18 号染色体三体型风险;18 号染色体三体性风险;T18 风险;Ts 18 风险;三体性 18 风险;染色体 18 三体型风险;染色体 18 三体性风险;爱德华兹综合征风险;Edwards 综合征风险;Edward 综合征风险 WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞三体型三体细胞三染色体性三染色体细胞依次型;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;顺序型分子病理学;分子病理学试验分子病理学试验类.三体性（三体型）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;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 18 三体型综合征风险（危险性、风险性、危险）;胎儿 18 三体型风险;胎儿 18 三体性综合征风险;胎儿 18 三体性风险;胎儿 18 三体综合征风险;胎儿 18 号染色体三体型风险;胎儿 18 号染色体三体性风险;胎儿 T18 风险;胎儿 Ts 18 风险;胎儿三体性 18 风险;胎儿染色体 18 三体型风险;胎儿染色体 18 三体性风险;胎儿爱德华兹综合征风险;胎儿Edwards 综合征风险;胎儿 Edward 综合征风险血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

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.

75559-5 Comment on fetal Trisomy 18 risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
Source: Regenstrief LOINC

Part Descriptions

LP185986-9 Comment on fetal Trisomy 18 risk
Trisomy 18 risk refers to the fetus's risk of having trisomy 18. The risk can be estimated based on maternal age and prenatal genetic testing of fetal DNA.Trisomy 18, also called Edwards syndrome, is caused by the presence of three copies of chromosome 18 in each cell rather than two. Edwards syndrome is associated with intrauterine growth retardation and fetal demise, and liveborn infants with Edwards syndrome typically have low birth weight, congenital heart disease, and characteristic physical features. Less than 10% of liveborn infants with Edwards syndrome live past their first year. The general population risk of Edwards syndrome is 1 out of 5,000 live births, and the risk for Edwards syndrome increases with increasing maternal age. [MedlinePlus Condition: trisomy-18] Source: Regenstrief LOINC, GHR: Trisomy 18

LP185986-9 Comment on fetal Trisomy 18 risk
The genetic counselor's comment regarding risk of a specific disorder or group of disorders is used to convey follow-up recommendations or other information related to the risk result and interpretation. Source: Regenstrief LOINC

Condition for Inclusion

If fetal trisomy 18 risk is high, a genetic counselor comment should be included.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Comment on fetal Trisomy 18 risk
Property: Txt
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Nar
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet Ts 18 risk comment
Display Name: Comment on Trisomy 18 risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal Comment on trisomy 18 risk

Basic Attributes

Class: MOLPATH.TRISOMY
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Release 2.70: COMPONENT: Removed "Genetic counselor" to broaden use since various specialists may provide comments on test results.; Previous Releases: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Comentario del consejero genético sobre el riesgo de trisomía 18 fetal:Texto:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Narrativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Comentario de consejo genético en riesgo de Trisomía 18:Texto:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque trisomie 18 foetale (commentaire du conseiller génétique):Texte:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Résultat textuel:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Commento su rischio Trisomia 18:Txt:Pt:WBC.DNA+Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di trisomia 18 Testo Trisomia cromosoma genetica
pl-PL	Polish (Poland)	Komentarz dotyczący ryzyka trisomii 18 u płodu:tekst:punkt w czasie:pozakomórkowy DNA leukocytów w osoczu:opisowy:dawkowanie swoistego dla chromosomu pozakomórkowego DNA
zh-CN	Chinese (China)	关于胎儿三体型 18 风险的遗传咨询师意见:文本型属性:时间点:白细胞.DNA+血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定 Synonyms: 18 三体型综合征风险（危险性、风险性、危险）;18 三体型风险;18 三体性综合征风险;18 三体性风险;18 三体综合征风险;18 号染色体三体型风险;18 号染色体三体性风险;T18 风险;Ts 18 风险;三体性 18 风险;染色体 18 三体型风险;染色体 18 三体性风险;爱德华兹综合征风险;Edwards 综合征风险;Edward 综合征风险 WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞三体型三体细胞三染色体性三染色体细胞关于胎儿三体型 18 （18 三体型综合征、18 三体型、18 三体性综合征、18 三体性、18 三体综合征、18 号染色体三体型、18 号染色体三体性、T18 、Ts 18 、三体性 18 、染色体 18 三体型、染色体 18 三体性、爱德华兹综合征、Edwards 综合征、Edward 综合征）风险（危险性、风险性、危险）的遗传咨询师（遗传病辅导员、基因咨询师、遗传谘询师、基因谘询师）意见（评论、解释、注释、注解、点评）分子病理学;分子病理学试验分子病理学试验类.三体性（三体型）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;文本属性时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 注解特异特异性的特异的短评胎儿 18 三体型综合征风险（危险性、风险性、危险）;胎儿 18 三体型风险;胎儿 18 三体性综合征风险;胎儿 18 三体性风险;胎儿 18 三体综合征风险;胎儿 18 号染色体三体型风险;胎儿 18 号染色体三体性风险;胎儿 T18 风险;胎儿 Ts 18 风险;胎儿三体性 18 风险;胎儿染色体 18 三体型风险;胎儿染色体 18 三体性风险;胎儿爱德华兹综合征风险;胎儿Edwards 综合征风险;胎儿 Edward 综合征风险血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA 解说解释评定评注评论评语说明

75546-2 Fetal Trisomy 13 prior risk [Likelihood] Based on maternal age

Part Descriptions

LP185800-2 Based on maternal age
The fetal risk for having certain disorders, such as Trisomy 21, varies based on maternal age. For such disorders, an individual infant's risk can be estimated based on known population statistics for how many women in a particular age group have an infant born with the condition compared to the total number of pregnancies for that age group. For example, the fetal Trisomy 21 risk is 1 out of 1,000 for a maternal age of 30 and 1 out of 100 for a maternal age of 40. Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component: Trisomy 13 prior risk
Property: Likelihood
Time: Pt
System: ^Fetus
Scale: Qn
Method: Based on maternal age

Additional Names

Short Name: Fet Ts 13 prior risk from Mat age
Display Name: Trisomy 13 prior risk Based on maternal age Qn (fetus)
Consumer Name Alpha Get Info: Fetal Trisomy 13 prior risk

Basic Attributes

Class: MOLPATH.TRISOMY
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Order vs. Observation: Both
Common Test Rank Get Info: 8172

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Trisomía 13 riesgo previo:Probabilidad:Punto temporal:^ Feto:Cuantitativo:Según la edad materna
es-ES	Spanish (Spain)	Riesgo previo de trisomía 13:Probabilidad:Punto temporal:^Feto:Qn:Basado en edad materna Synonyms: Cuantitativo
fr-FR	French (France)	Risque prédominant trisomie 13:Probabilité:Ponctuel:Concerne le foetus:Numérique:Basé sur l'âge de la mère
it-IT	Italian (Italy)	Trisomia 13, rischio preesistente:Probabilità:Pt:^feto:Qn:basato sull'età materna Synonyms: Patologia molecolare Punto nel tempo (episodio) Rischio preesistente di trisomia 13 Trisomia cromosoma genetica
zh-CN	Chinese (China)	三体型 13 先验风险:似然性:时间点:^胎儿:定量型:基于母亲年龄的方法 Synonyms: 三体型三体型 13 先验风险（事前风险、事先风险）;T13 prior risk;13 三体型综合征先验风险（危险性、风险性、危险）;13 三体型先验风险;13 三体性综合征先验风险;13 三体性先验风险;13 三体综合征先验风险;13 三体综合症先验风险;13 号染色体三体型先验风险;13 号染色体三体性先验风险;三体性 13 先验风险;染色体 13 三体型先验风险;染色体 13 三体性先验风险;巴陶氏症先验风险;帕陶综合征先验风险;Patau 综合征先验风险;T13 prior risk;Patau syn 三体细胞三染色体性三染色体细胞分子病理学;分子病理学试验分子病理学试验类.三体性（三体型）可用数量表示的;定量性;数值型;数量型;连续数值型标尺可能性;似然;可能基于母亲（孕妇、产妇、妈妈）年龄的方法时刻;随机;随意;瞬间胎;超系统 - 胎儿

Example Units

Unit	Source
{risk}	Example UCUM Units

75550-4 Fetal Trisomy 13 prior risk [Likelihood] Based on maternal age Narrative

Part Descriptions

LP185800-2 Based on maternal age
The fetal risk for having certain disorders, such as Trisomy 21, varies based on maternal age. For such disorders, an individual infant's risk can be estimated based on known population statistics for how many women in a particular age group have an infant born with the condition compared to the total number of pregnancies for that age group. For example, the fetal Trisomy 21 risk is 1 out of 1,000 for a maternal age of 30 and 1 out of 100 for a maternal age of 40. Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component: Trisomy 13 prior risk
Property: Likelihood
Time: Pt
System: ^Fetus
Scale: Nar
Method: Based on maternal age

Additional Names

Short Name: Fet Ts 13 prior risk from Mat age
Display Name: Trisomy 13 prior risk Based on maternal age Nar (fetus)
Consumer Name Alpha Get Info: Fetal Trisomy 13 prior risk

Basic Attributes

Class: MOLPATH.TRISOMY
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Trisomía 13 riesgo previo:Probabilidad:Punto temporal:^ Feto:Narrativo:Según la edad materna
es-ES	Spanish (Spain)	Riesgo previo de trisomía 13:Probabilidad:Punto temporal:^Feto:Narrativo:Basado en edad materna
fr-FR	French (France)	Risque prédominant trisomie 13:Probabilité:Ponctuel:Concerne le foetus:Résultat textuel:Basé sur l'âge de la mère
it-IT	Italian (Italy)	Trisomia 13, rischio preesistente:Probabilità:Pt:^feto:Nar:basato sull'età materna Synonyms: Patologia molecolare Punto nel tempo (episodio) Rischio preesistente di trisomia 13 Trisomia cromosoma genetica
zh-CN	Chinese (China)	三体型 13 先验风险:似然性:时间点:^胎儿:叙述型:基于母亲年龄的方法 Synonyms: 三体型三体型 13 先验风险（事前风险、事先风险）;T13 prior risk;13 三体型综合征先验风险（危险性、风险性、危险）;13 三体型先验风险;13 三体性综合征先验风险;13 三体性先验风险;13 三体综合征先验风险;13 三体综合症先验风险;13 号染色体三体型先验风险;13 号染色体三体性先验风险;三体性 13 先验风险;染色体 13 三体型先验风险;染色体 13 三体性先验风险;巴陶氏症先验风险;帕陶综合征先验风险;Patau 综合征先验风险;T13 prior risk;Patau syn 三体细胞三染色体性三染色体细胞分子病理学;分子病理学试验分子病理学试验类.三体性（三体型）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;文本描述型可能性;似然;可能基于母亲（孕妇、产妇、妈妈）年龄的方法时刻;随机;随意;瞬间胎;超系统 - 胎儿

75548-8 Fetal Trisomy 13 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
Source: Regenstrief LOINC

Part Descriptions

LP99499-3 Fetal trisomy 13 risk
Trisomy 13 risk refers to the fetus's risk of having trisomy 13. The risk can be estimated based on maternal age as well as prenatal genetic testing of fetal DNA. Trisomy 13, also called Patau syndrome, is caused by the presence of three copies of chromosome 13 in each cell rather than two. Patau syndrome is associated with severe cognitive delay, various forms of congenital heart disease, brain or spinal cord abnormalities, hypotonia, cleft lip and/or palate, and poorly developed eyes. Many liveborn infants with Patau syndrome die within the first weeks of life, and less than 10% survive longer than one year. The general population risk of Trisomy 13 is about 1 in 16,000 live births, but the risk increases with increasing maternal age. [MedlinePlus Condition: trisomy-13] Source: Regenstrief LOINC, GHR: Trisomy 13

Observation Required in Panel

Required

Fully-Specified Name

Component: Fetal trisomy 13 risk
Property: Likelihood
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Qn
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet Ts 13 risk WBC.DNA+cfDNA Qn
Display Name: Trisomy 13 risk Dosage of chromosome-specific cfDNA Qn (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal Trisomy 13 risk

Basic Attributes

Class: MOLPATH.TRISOMY
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de trisomía 13 fetal:Probabilidad:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Cuantitativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de trisomía 13:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Qn:Dosificación de ADN ccf de cromosoma específico Synonyms: Cuantitativo
fr-FR	French (France)	Risque de trisomie 13 foetale:Probabilité:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Numérique:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Trisomia 13, rischio:Probabilità:Pt:WBC.DNA+Plas.cfDNA:Qn:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di trisomia 13 Trisomia cromosoma genetica
zh-CN	Chinese (China)	胎儿三体型 13 风险:似然性:时间点:白细胞.DNA+血浆.cfDNA:定量型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞三体型三体细胞三染色体性三染色体细胞分子病理学;分子病理学试验分子病理学试验类.三体性（三体型）可用数量表示的;定量性;数值型;数量型;连续数值型标尺可能性;似然;可能时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 13 三体型综合征风险（危险性、风险性、危险）;13 三体型风险;13 三体性综合征风险;13 三体性风险;13 三体综合征风险;13 号染色体三体型风险;13 号染色体三体性风险;T13 风险;Ts 13 风险;三体性 13 风险;染色体 13 三体型风险;染色体 13 三体性风险;13-三体综合征风险;13 号染色体三体型综合征风险;Patau 综合征风险;帕套综合征风险血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

Example Units

Unit	Source
{risk}	Example UCUM Units

75551-2 Fetal Trisomy 13 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
Source: Regenstrief LOINC

Part Descriptions

LP99499-3 Fetal trisomy 13 risk
Trisomy 13 risk refers to the fetus's risk of having trisomy 13. The risk can be estimated based on maternal age as well as prenatal genetic testing of fetal DNA. Trisomy 13, also called Patau syndrome, is caused by the presence of three copies of chromosome 13 in each cell rather than two. Patau syndrome is associated with severe cognitive delay, various forms of congenital heart disease, brain or spinal cord abnormalities, hypotonia, cleft lip and/or palate, and poorly developed eyes. Many liveborn infants with Patau syndrome die within the first weeks of life, and less than 10% survive longer than one year. The general population risk of Trisomy 13 is about 1 in 16,000 live births, but the risk increases with increasing maternal age. [MedlinePlus Condition: trisomy-13] Source: Regenstrief LOINC, GHR: Trisomy 13

Observation Required in Panel

Optional

Fully-Specified Name

Component: Fetal trisomy 13 risk
Property: Likelihood
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Nar
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet Ts 13 risk WBC.DNA+cfDNA
Display Name: Trisomy 13 risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal Trisomy 13 risk

Basic Attributes

Class: MOLPATH.TRISOMY
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de trisomía 13 fetal:Probabilidad:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Narrativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de trisomía 13:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque de trisomie 13 foetale:Probabilité:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Résultat textuel:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Trisomia 13, rischio:Probabilità:Pt:WBC.DNA+Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di trisomia 13 Trisomia cromosoma genetica
zh-CN	Chinese (China)	胎儿三体型 13 风险:似然性:时间点:白细胞.DNA+血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞三体型三体细胞三染色体性三染色体细胞分子病理学;分子病理学试验分子病理学试验类.三体性（三体型）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;文本描述型可能性;似然;可能时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 13 三体型综合征风险（危险性、风险性、危险）;13 三体型风险;13 三体性综合征风险;13 三体性风险;13 三体综合征风险;13 号染色体三体型风险;13 号染色体三体性风险;T13 风险;Ts 13 风险;三体性 13 风险;染色体 13 三体型风险;染色体 13 三体性风险;13-三体综合征风险;13 号染色体三体型综合征风险;Patau 综合征风险;帕套综合征风险血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

75552-0 Fetal Trisomy 13 risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
Source: Regenstrief LOINC

Part Descriptions

LP99499-3 Fetal trisomy 13 risk
Trisomy 13 risk refers to the fetus's risk of having trisomy 13. The risk can be estimated based on maternal age as well as prenatal genetic testing of fetal DNA. Trisomy 13, also called Patau syndrome, is caused by the presence of three copies of chromosome 13 in each cell rather than two. Patau syndrome is associated with severe cognitive delay, various forms of congenital heart disease, brain or spinal cord abnormalities, hypotonia, cleft lip and/or palate, and poorly developed eyes. Many liveborn infants with Patau syndrome die within the first weeks of life, and less than 10% survive longer than one year. The general population risk of Trisomy 13 is about 1 in 16,000 live births, but the risk increases with increasing maternal age. [MedlinePlus Condition: trisomy-13] Source: Regenstrief LOINC, GHR: Trisomy 13

Observation Required in Panel

Required

Fully-Specified Name

Component: Fetal trisomy 13 risk
Property: Imp
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Ord
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet Ts 13 risk WBC.DNA+cfDNA Ql
Display Name: Trisomy 13 risk Dosage of chromosome-specific cfDNA Ql (Plasma cell-free+WBC DNA) [Interp]
Consumer Name Alpha Get Info: Fetal Trisomy 13 risk

Basic Attributes

Class: MOLPATH.TRISOMY
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Example Answer List LL3000-8

Answer	Code	Score	Answer ID
Low risk			LA19542-2
High risk			LA19541-4
Risk unchanged			LA21393-6
Test not performed Copyright http://snomed.info/sct ID:262008008 Not performed (qualifier value)			LA13546-9

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de trisomía 13 fetal:Impresión / interpretación del estudio:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Ordinal:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de trisomía 13:Impresión/interpretación del estudio:Punto temporal:ADN en plasma libre de células y leucocitos:Ord:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque de trisomie 13 foetale:Interprétation:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Qualitatif:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Trisomia 13, rischio:Imp:Pt:WBC.DNA+Plas.cfDNA:Ord:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di trisomia 13 Trisomia cromosoma genetica
zh-CN	Chinese (China)	胎儿三体型 13 风险:印象:时间点:白细胞.DNA+血浆.cfDNA:序数型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞三体型三体细胞三染色体性三染色体细胞依次型;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;顺序型分子病理学;分子病理学试验分子病理学试验类.三体性（三体型）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;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 13 三体型综合征风险（危险性、风险性、危险）;13 三体型风险;13 三体性综合征风险;13 三体性风险;13 三体综合征风险;13 号染色体三体型风险;13 号染色体三体性风险;T13 风险;Ts 13 风险;三体性 13 风险;染色体 13 三体型风险;染色体 13 三体性风险;13-三体综合征风险;13 号染色体三体型综合征风险;Patau 综合征风险;帕套综合征风险血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

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.

75553-8 Comment on fetal Trisomy 13 risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
Source: Regenstrief LOINC

Part Descriptions

LP185802-8 Comment on fetal Trisomy 13 risk
Trisomy 13 risk refers to the fetus's risk of having trisomy 13. The risk can be estimated based on maternal age as well as prenatal genetic testing of fetal DNA. Trisomy 13, also called Patau syndrome, is caused by the presence of three copies of chromosome 13 in each cell rather than two. Patau syndrome is associated with severe cognitive delay, various forms of congenital heart disease, brain or spinal cord abnormalities, hypotonia, cleft lip and/or palate, and poorly developed eyes. Many liveborn infants with Patau syndrome die within the first weeks of life, and less than 10% survive longer than one year. The general population risk of Trisomy 13 is about 1 in 16,000 live births, but the risk increases with increasing maternal age. [MedlinePlus Condition: trisomy-13] Source: Regenstrief LOINC, GHR: Trisomy 13

LP185802-8 Comment on fetal Trisomy 13 risk
The genetic counselor's comment regarding risk of a specific disorder or group of disorders is used to convey follow-up recommendations or other information related to the risk result and interpretation. Source: Regenstrief LOINC

Condition for Inclusion

If fetal trisomy 13 risk is high, a genetic counselor comment should be included.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Comment on fetal Trisomy 13 risk
Property: Txt
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Nar
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet Ts 13 risk comment
Display Name: Comment on Trisomy 13 risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal Comment on trisomy 13 risk

Basic Attributes

Class: MOLPATH.TRISOMY
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Release 2.70: COMPONENT: Removed "Genetic counselor" to broaden use since various specialists may provide comments on test results.; Previous Releases: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Comentario del asesor genético sobre el riesgo de trisomía 13 fetal:Texto:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Narrativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Comentario de consejo genético en riesgo de Trisomía 13:Texto:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque trisomie 13 foetale (commentaire du conseiller génétique):Texte:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Résultat textuel:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Commento su rischio Trisomia 13:Txt:Pt:WBC.DNA+Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di trisomia 13 Testo Trisomia cromosoma genetica
zh-CN	Chinese (China)	关于胎儿三体型 13 风险的遗传咨询师意见:文本型属性:时间点:白细胞.DNA+血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞三体型三体细胞三染色体性三染色体细胞关于胎儿三体型 13 （13 三体型综合征、13 三体型、13 三体性综合征、13 三体性、13 三体综合征、13 号染色体三体型、13 号染色体三体性、T13 、Ts 13 、三体性 13 、染色体 13 三体型、染色体 13 三体性、13-三体综合征、13 号染色体三体型综合征、Patau 综合征、帕套综合征）风险（危险性、风险性、危险）的遗传咨询师（遗传病辅导员、基因咨询师、遗传谘询师、基因谘询师）意见（评论、解释、注释、注解、点评）分子病理学;分子病理学试验分子病理学试验类.三体性（三体型）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;文本属性时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 注解特异特异性的特异的短评胎儿 13 三体型综合征风险（危险性、风险性、危险）;13 三体型风险;13 三体性综合征风险;13 三体性风险;13 三体综合征风险;13 号染色体三体型风险;13 号染色体三体性风险;T13 风险;Ts 13 风险;三体性 13 风险;染色体 13 三体型风险;染色体 13 三体性风险;13-三体综合征风险;13 号染色体三体型综合征风险;Patau 综合征风险;帕套综合征风险血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA 解说解释评定评注评论评语说明

75566-0 Fetal Monosomy X prior risk [Likelihood] Based on maternal age

Part Descriptions

LP185800-2 Based on maternal age
The fetal risk for having certain disorders, such as Trisomy 21, varies based on maternal age. For such disorders, an individual infant's risk can be estimated based on known population statistics for how many women in a particular age group have an infant born with the condition compared to the total number of pregnancies for that age group. For example, the fetal Trisomy 21 risk is 1 out of 1,000 for a maternal age of 30 and 1 out of 100 for a maternal age of 40. Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component: Monosomy X prior risk
Property: Likelihood
Time: Pt
System: ^Fetus
Scale: Qn
Method: Based on maternal age

Additional Names

Short Name: Fet Ms X prior risk from Mat age
Display Name: Monosomy X prior risk Based on maternal age Qn (fetus)
Consumer Name Alpha Get Info: Fetal Monosomy X Prior Risk

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo previo de la monosomía X:Probabilidad:Punto temporal:^ Feto:Cuantitativo:Según la edad materna
es-ES	Spanish (Spain)	Riesgo previo de monosomía X:Probabilidad:Punto temporal:^Feto:Qn:Basado en edad materna Synonyms: Cuantitativo
fr-FR	French (France)	Risque prédominant monosomie X:Probabilité:Ponctuel:Concerne le foetus:Numérique:Basé sur l'âge de la mère
it-IT	Italian (Italy)	Monosomia X, rischio preesistente:Probabilità:Pt:^feto:Qn:basato sull'età materna Synonyms: Patologia molecolare Punto nel tempo (episodio) Rischio preesistente di monosomia X
zh-CN	Chinese (China)	单体型 X 先验风险:似然性:时间点:^胎儿:定量型:基于母亲年龄的方法 Synonyms: 分子病理学;分子病理学试验单体型 X 先验风险（事前风险、事先风险）;X 单染色体症先验风险（危险性、风险性、危险）;特纳综合征先验风险;Turner 综合征先验风险;杜纳综合征先验风险;透纳氏症先验风险;透纳氏症候群先验风险;乌尔里希-特纳综合征先验风险;Ullrich-Turner 综合征先验风险;性腺发育不全先验风险;生殖腺发育不全先验风险;性腺发育障碍先验风险;性腺发育不良先验风险;性腺生殖力不全先验风险;性腺发育障碍症先验风险;Turner syndrome prior risk;Ullrich-Turner syndr 可用数量表示的;定量性;数值型;数量型;连续数值型标尺可能性;似然;可能基于母亲（孕妇、产妇、妈妈）年龄的方法时刻;随机;随意;瞬间胎;超系统 - 胎儿

Example Units

Unit	Source
{risk}	Example UCUM Units

75568-6 Fetal Monosomy X prior risk [Likelihood] Based on maternal age Narrative

Part Descriptions

LP185800-2 Based on maternal age
The fetal risk for having certain disorders, such as Trisomy 21, varies based on maternal age. For such disorders, an individual infant's risk can be estimated based on known population statistics for how many women in a particular age group have an infant born with the condition compared to the total number of pregnancies for that age group. For example, the fetal Trisomy 21 risk is 1 out of 1,000 for a maternal age of 30 and 1 out of 100 for a maternal age of 40. Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component: Monosomy X prior risk
Property: Likelihood
Time: Pt
System: ^Fetus
Scale: Nar
Method: Based on maternal age

Additional Names

Short Name: Fet Ms X prior risk from Mat age
Display Name: Monosomy X prior risk Based on maternal age Nar (fetus)
Consumer Name Alpha Get Info: Fetal Monosomy X Prior Risk

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo previo de la monosomía X:Probabilidad:Punto temporal:^ Feto:Narrativo:Según la edad materna
es-ES	Spanish (Spain)	Riesgo previo de monosomía X:Probabilidad:Punto temporal:^Feto:Narrativo:Basado en edad materna
fr-FR	French (France)	Risque prédominant monosomie X:Probabilité:Ponctuel:Concerne le foetus:Résultat textuel:Basé sur l'âge de la mère
it-IT	Italian (Italy)	Monosomia X, rischio preesistente:Probabilità:Pt:^feto:Nar:basato sull'età materna Synonyms: Patologia molecolare Punto nel tempo (episodio) Rischio preesistente di monosomia X
zh-CN	Chinese (China)	单体型 X 先验风险:似然性:时间点:^胎儿:叙述型:基于母亲年龄的方法 Synonyms: 分子病理学;分子病理学试验单体型 X 先验风险（事前风险、事先风险）;X 单染色体症先验风险（危险性、风险性、危险）;特纳综合征先验风险;Turner 综合征先验风险;杜纳综合征先验风险;透纳氏症先验风险;透纳氏症候群先验风险;乌尔里希-特纳综合征先验风险;Ullrich-Turner 综合征先验风险;性腺发育不全先验风险;生殖腺发育不全先验风险;性腺发育障碍先验风险;性腺发育不良先验风险;性腺生殖力不全先验风险;性腺发育障碍症先验风险;Turner syndrome prior risk;Ullrich-Turner syndr 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;文本描述型可能性;似然;可能基于母亲（孕妇、产妇、妈妈）年龄的方法时刻;随机;随意;瞬间胎;超系统 - 胎儿

75567-8 Fetal Monosomy X risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
Source: Regenstrief LOINC

Part Descriptions

LP185775-6 Fetal monosomy X risk
Monosomy X risk refers to the fetus's risk of having monosomy X, also known as Turner syndrome. The risk can be estimated based on gestational age as well as prenatal genetic testing of fetal DNA.Monosomy X is caused by the presence of a single normal copy of chromosome X in each cell rather than 2 normal copies of X or one X and one Y chromosome. In many cases, critical portions of the second X chromosome may be missing rather than the entire chromosome. Turner syndrome is associated with ovarian dysfunction, short stature and other characteristic physical features, and up to half of girls with Turner syndrome have congenital heart disease. Turner syndrome is not associated with cognitive delay. The general population risk of monosomy X is about 1 in 2,500 live female births, and does not change with maternal age. [MedlinePlus Condition: turner-syndrome] Source: Regenstrief LOINC, GHR: Turner syndrome

Observation Required in Panel

Required

Fully-Specified Name

Component: Fetal monosomy X risk
Property: Likelihood
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Qn
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet Ms X risk WBC.DNA+cfDNA Qn
Display Name: Monosomy X risk Dosage of chromosome-specific cfDNA Qn (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal Monosomy X Risk

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de monosomía X fetal:Probabilidad:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Cuantitativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de monosomía X:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Qn:Dosificación de ADN ccf de cromosoma específico Synonyms: Cuantitativo
fr-FR	French (France)	Risque de monosomie X foetale:Probabilité:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Numérique:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Monosomia X, rischio:Probabilità:Pt:WBC.DNA+Plas.cfDNA:Qn:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di monosomia X
zh-CN	Chinese (China)	胎儿单体型 X 风险:似然性:时间点:白细胞.DNA+血浆.cfDNA:定量型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞分子病理学;分子病理学试验可用数量表示的;定量性;数值型;数量型;连续数值型标尺可能性;似然;可能时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 X 单染色体症风险（危险性、风险性、危险）;特纳综合征风险;Turner 综合征风险;杜纳综合征风险;透纳氏症风险;透纳氏症候群风险;乌尔里希-特纳综合征风险;Ullrich-Turner 综合征风险;性腺发育不全风险;生殖腺发育不全风险;性腺发育障碍风险;性腺发育不良风险;性腺生殖力不全风险;性腺发育障碍症风险;Turner syndrome risk;Ullrich-Turner syndrome risk;Gonadal dysgenesis risk 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

Example Units

Unit	Source
{risk}	Example UCUM Units

75569-4 Fetal Monosomy X risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
Source: Regenstrief LOINC

Part Descriptions

LP185775-6 Fetal monosomy X risk
Monosomy X risk refers to the fetus's risk of having monosomy X, also known as Turner syndrome. The risk can be estimated based on gestational age as well as prenatal genetic testing of fetal DNA.Monosomy X is caused by the presence of a single normal copy of chromosome X in each cell rather than 2 normal copies of X or one X and one Y chromosome. In many cases, critical portions of the second X chromosome may be missing rather than the entire chromosome. Turner syndrome is associated with ovarian dysfunction, short stature and other characteristic physical features, and up to half of girls with Turner syndrome have congenital heart disease. Turner syndrome is not associated with cognitive delay. The general population risk of monosomy X is about 1 in 2,500 live female births, and does not change with maternal age. [MedlinePlus Condition: turner-syndrome] Source: Regenstrief LOINC, GHR: Turner syndrome

Observation Required in Panel

Optional

Fully-Specified Name

Component: Fetal monosomy X risk
Property: Likelihood
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Nar
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet Ms X risk WBC.DNA+cfDNA
Display Name: Monosomy X risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal Monosomy X Risk

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de monosomía X fetal:Probabilidad:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Narrativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de monosomía X:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque de monosomie X foetale:Probabilité:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Résultat textuel:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Monosomia X, rischio:Probabilità:Pt:WBC.DNA+Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di monosomia X
zh-CN	Chinese (China)	胎儿单体型 X 风险:似然性:时间点:白细胞.DNA+血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞分子病理学;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;文本描述型可能性;似然;可能时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 X 单染色体症风险（危险性、风险性、危险）;特纳综合征风险;Turner 综合征风险;杜纳综合征风险;透纳氏症风险;透纳氏症候群风险;乌尔里希-特纳综合征风险;Ullrich-Turner 综合征风险;性腺发育不全风险;生殖腺发育不全风险;性腺发育障碍风险;性腺发育不良风险;性腺生殖力不全风险;性腺发育障碍症风险;Turner syndrome risk;Ullrich-Turner syndrome risk;Gonadal dysgenesis risk 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

75570-2 Fetal Monosomy X risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
Source: Regenstrief LOINC

Part Descriptions

LP185775-6 Fetal monosomy X risk
Monosomy X risk refers to the fetus's risk of having monosomy X, also known as Turner syndrome. The risk can be estimated based on gestational age as well as prenatal genetic testing of fetal DNA.Monosomy X is caused by the presence of a single normal copy of chromosome X in each cell rather than 2 normal copies of X or one X and one Y chromosome. In many cases, critical portions of the second X chromosome may be missing rather than the entire chromosome. Turner syndrome is associated with ovarian dysfunction, short stature and other characteristic physical features, and up to half of girls with Turner syndrome have congenital heart disease. Turner syndrome is not associated with cognitive delay. The general population risk of monosomy X is about 1 in 2,500 live female births, and does not change with maternal age. [MedlinePlus Condition: turner-syndrome] Source: Regenstrief LOINC, GHR: Turner syndrome

Observation Required in Panel

Required

Fully-Specified Name

Component: Fetal monosomy X risk
Property: Imp
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Ord
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet Ms X risk WBC.DNA+cfDNA Ql
Display Name: Monosomy X risk Dosage of chromosome-specific cfDNA Ql (Plasma cell-free+WBC DNA) [Interp]
Consumer Name Alpha Get Info: Fetal Monosomy X Risk

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Example Answer List LL3000-8

Answer	Code	Score	Answer ID
Low risk			LA19542-2
High risk			LA19541-4
Risk unchanged			LA21393-6
Test not performed Copyright http://snomed.info/sct ID:262008008 Not performed (qualifier value)			LA13546-9

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de monosomía X fetal:Impresión / interpretación del estudio:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Ordinal:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de monosomía X:Impresión/interpretación del estudio:Punto temporal:ADN en plasma libre de células y leucocitos:Ord:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque de monosomie X foetale:Interprétation:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Qualitatif:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Monosomia X, rischio:Imp:Pt:WBC.DNA+Plas.cfDNA:Ord:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di monosomia X
zh-CN	Chinese (China)	胎儿单体型 X 风险:印象:时间点:白细胞.DNA+血浆.cfDNA:序数型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞依次型;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;顺序型分子病理学;分子病理学试验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;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 X 单染色体症风险（危险性、风险性、危险）;特纳综合征风险;Turner 综合征风险;杜纳综合征风险;透纳氏症风险;透纳氏症候群风险;乌尔里希-特纳综合征风险;Ullrich-Turner 综合征风险;性腺发育不全风险;生殖腺发育不全风险;性腺发育障碍风险;性腺发育不良风险;性腺生殖力不全风险;性腺发育障碍症风险;Turner syndrome risk;Ullrich-Turner syndrome risk;Gonadal dysgenesis risk 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

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.

75571-0 Comment on fetal Monosomy X risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
Source: Regenstrief LOINC

Part Descriptions

LP185988-5 Comment on fetal Monosomy X risk
Monosomy X risk refers to the fetus's risk of having monosomy X, also known as Turner syndrome. The risk can be estimated based on gestational age as well as prenatal genetic testing of fetal DNA.Monosomy X is caused by the presence of a single normal copy of chromosome X in each cell rather than 2 normal copies of X or one X and one Y chromosome. In many cases, critical portions of the second X chromosome may be missing rather than the entire chromosome. Turner syndrome is associated with ovarian dysfunction, short stature and other characteristic physical features, and up to half of girls with Turner syndrome have congenital heart disease. Turner syndrome is not associated with cognitive delay. The general population risk of monosomy X is about 1 in 2,500 live female births, and does not change with maternal age. [MedlinePlus Condition: turner-syndrome] Source: Regenstrief LOINC, GHR: Turner syndrome

LP185988-5 Comment on fetal Monosomy X risk
The genetic counselor's comment regarding risk of a specific disorder or group of disorders is used to convey follow-up recommendations or other information related to the risk result and interpretation. Source: Regenstrief LOINC

Condition for Inclusion

If fetal Monosomy X risk is high, a genetic counselor comment should be included.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Comment on fetal Monosomy X risk
Property: Txt
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Nar
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet Mon X 13 risk comment
Display Name: Comment on Monosomy X risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Comment on Monosomy X Risk

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Release 2.70: COMPONENT: Removed "Genetic counselor" to broaden use since various specialists may provide comments on test results.; Previous Releases: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Comentario de consejo genético en riesgo de Monosomía X:Texto:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico
es-MX	Spanish (Mexico)	Comentario del asesor genético sobre el riesgo de monosomía X fetal:Texto:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Narrativo:Dosis de cfDNA cromosómico específico
fr-FR	French (France)	Risque monosomie X foetale (commentaire du conseiller génétique):Texte:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Résultat textuel:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Commento su rischio Monosomia X:Txt:Pt:WBC.DNA+Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di monosomia X Testo
pl-PL	Polish (Poland)	Komentarz dotyczący ryzyka monosomii X u płodu:tekst:punkt w czasie:pozakomórkowy DNA leukocytów w osoczu:opisowy:dawkowanie swoistego dla chromosomu pozakomórkowego DNA
zh-CN	Chinese (China)	关于胎儿单体型 X 风险的遗传咨询师意见:文本型属性:时间点:白细胞.DNA+血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞关于胎儿单体型 X （X 单染色体症、特纳综合征、Turner 综合征、杜纳综合征、透纳氏症、透纳氏症候群、乌尔里希-特纳综合征、Ullrich-Turner 综合征、性腺发育不全、生殖腺发育不全、性腺发育障碍、性腺发育不良、性腺生殖力不全、性腺发育障碍症）风险（危险性、风险性、危险）的遗传咨询师（遗传病辅导员、基因咨询师、遗传谘询师、基因谘询师）意见（评论、解释、注释、注解、点评）;Genetic counselor comment on Turner syndrome risk;Genetic cou 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;文本属性时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 注解特异特异性的特异的短评胎儿 X 单染色体症风险（危险性、风险性、危险）;特纳综合征风险;Turner 综合征风险;杜纳综合征风险;透纳氏症风险;透纳氏症候群风险;乌尔里希-特纳综合征风险;Ullrich-Turner 综合征风险;性腺发育不全风险;生殖腺发育不全风险;性腺发育障碍风险;性腺发育不良风险;性腺生殖力不全风险;性腺发育障碍症风险;Turner syndrome risk;Ullrich-Turner syndrome risk;Gonadal dysgenesis risk 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA 解说解释评定评注评论评语说明

75572-8 Fetal Triploidy risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
Source: Regenstrief LOINC

Part Descriptions

LP185909-1 Fetal triploidy risk
Triploidy risk refers to the fetus's risk of being affected by triploid syndrome. The risk can be determined by prenatal genetic testing of fetal DNA. Triploid syndrome is caused by the presence of three copies of every chromosome rather than two, for a total of 69 chromosomes rather than the normal 46. The majority of cases are due to two sperm fertilizing a single egg. Most fetuses with triploidy are lost due to miscarriage, and the few infants born with triploidy have multiple birth defects and only survive a few months. [https://www.rarediseases.org] Source: Regenstrief LOINC, NORD: Triploid syndrome

Observation Required in Panel

Required

Fully-Specified Name

Component: Fetal triploidy risk
Property: Imp
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Ord
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet Trip risk WBC.DNA+cfDNA Ql
Display Name: Triploidy risk Dosage of chromosome-specific cfDNA Ql (Plasma cell-free+WBC DNA) [Interp]
Consumer Name Alpha Get Info: Fetal Triploidy risk

Basic Attributes

Class: MOLPATH.TRISOMY
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Example Answer List LL3000-8

Answer	Code	Score	Answer ID
Low risk			LA19542-2
High risk			LA19541-4
Risk unchanged			LA21393-6
Test not performed Copyright http://snomed.info/sct ID:262008008 Not performed (qualifier value)			LA13546-9

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de triploidía fetal:Impresión / interpretación del estudio:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Ordinal:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de Triploidía:Impresión/interpretación del estudio:Punto temporal:ADN en plasma libre de células y leucocitos:Ord:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque de triploïdie foetale:Interprétation:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Qualitatif:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Triploidia, rischio:Imp:Pt:WBC.DNA+Plas.cfDNA:Ord:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio) Rischio triploidia Trisomia cromosoma genetica
zh-CN	Chinese (China)	胎儿三倍体风险:印象:时间点:白细胞.DNA+血浆.cfDNA:序数型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞三体型三体细胞三染色体性三染色体细胞依次型;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;顺序型分子病理学;分子病理学试验分子病理学试验类.三体性（三体型）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;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿三倍体（三倍性、三体型、三体性、染色体三倍性、三倍态、三倍体、三倍染色体、三倍体染色体）风险（危险、危险性、风险性）血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

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.

75573-6 Comment on fetal Triploidy risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative

Part Descriptions

LP185990-1 Comment on fetal Triploidy risk
Triploidy risk refers to the fetus's risk of being affected by triploid syndrome. The risk can be determined by prenatal genetic testing of fetal DNA. Triploid syndrome is caused by the presence of three copies of every chromosome rather than two, for a total of 69 chromosomes rather than the normal 46. The majority of cases are due to two sperm fertilizing a single egg. Most fetuses with triploidy are lost due to miscarriage, and the few infants born with triploidy have multiple birth defects and only survive a few months. [https://www.rarediseases.org] Source: Regenstrief LOINC, NORD: Triploid syndrome

LP185990-1 Comment on fetal Triploidy risk
The genetic counselor's comment regarding risk of a specific disorder or group of disorders is used to convey follow-up recommendations or other information related to the risk result and interpretation. Source: Regenstrief LOINC

Condition for Inclusion

If fetal triploidy risk is high, a genetic counselor comment should be included.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Comment on fetal Triploidy risk
Property: Imp
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Nar
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet Triploidy risk comment
Display Name: Comment on Triploidy risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA) [Interp]
Consumer Name Alpha Get Info: Comment on fetal triploidy risk

Basic Attributes

Class: MOLPATH.TRISOMY
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Release 2.70: COMPONENT: Removed "Genetic counselor" to broaden use since various specialists may provide comments on test results.; Previous Releases: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Comentario del consejero genético sobre el riesgo de triploidía fetal:Impresión / interpretación del estudio:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Narrativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Comentario de consejo genético en riesgo de Triploidía:Impresión/interpretación del estudio:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque triploïdie foetale (commentaire du conseiller génétique):Interprétation:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Résultat textuel:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Commento su rischio Triploidia:Imp:Pt:WBC.DNA+Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio) Rischio triploidia Trisomia cromosoma genetica
zh-CN	Chinese (China)	关于胎儿三倍体风险的遗传咨询师意见:印象:时间点:白细胞.DNA+血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞三体型三体细胞三染色体性三染色体细胞关于胎儿三倍体（三倍性、三体型、三体性、染色体三倍性、三倍态、三倍体、三倍染色体、三倍体染色体）风险（危险性、风险性、危险）的遗传咨询师（遗传病辅导员、基因咨询师、遗传谘询师、基因谘询师）意见（评论、解释、注释、注解、点评）分子病理学;分子病理学试验分子病理学试验类.三体性（三体型）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;文本描述型备注备注;评论;注解;说明;评语意见时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 注解特异特异性的特异的短评胎儿三倍体（三倍性、三体型、三体性、染色体三倍性、三倍态、三倍体、三倍染色体、三倍体染色体）风险（危险、危险性、风险性）血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA 解说解释评定评注评论评语说明

75574-4 Fetal 22q11.2 deletion prior risk [Likelihood] based on general population risk

Part Descriptions

LP185907-5 based on general population risk
The risk of having or developing a specific disorder can be calculated by several different methods. One method uses known statistics for the general population as a whole to estimate a single individual's risk. For example, if 30 cases of a certain genetic condition that presents at birth are diagnosed in one year in a geographic area that has 300,000 live births per year, the individual infant's risk of having this condition is approximately 1 in 10,000 live births. Source: Regenstrief LOINC

Condition for Inclusion

Microdeletion risk analysis requested as part of lab order.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: 22q11.2 deletion prior risk
Property: Likelihood
Time: Pt
System: ^Fetus
Scale: Qn
Method: Based on general population risk

Additional Names

Short Name: Fet 22q11.2 del prior risk from Pop risk
Display Name: 22q11.2 del prior risk based on general population risk Qn (fetus)
Consumer Name Alpha Get Info: Fetal 22q11.2 deletion prior risk

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo previo de deleción 22q11.2:Probabilidad:Punto temporal:^ Feto:Cuantitativo:basado en el riesgo de la población general
es-ES	Spanish (Spain)	Riesgo previo de deleción 22q11.2:Probabilidad:Punto temporal:^Feto:Qn:Basado en el riesgo de la población general Synonyms: Cuantitativo
fr-FR	French (France)	Risque prédominant délétion 22q11.2:Probabilité:Ponctuel:Concerne le foetus:Numérique:Basé sur le risque pour la population
it-IT	Italian (Italy)	Delezione 22q11.2 rischio preesistente:Probabilità:Pt:^feto:Qn:basato sul rischio nella popolazione generale Synonyms: Delezione genetica Patologia molecolare Punto nel tempo (episodio)
zh-CN	Chinese (China)	22q11.2 染色体缺失先验风险:似然性:时间点:^胎儿:定量型:基于一般人群风险的方法 Synonyms: 22q11.2 染色体缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）先验风险（事前风险、事先风险）;22q11.2 染色体缺失综合征先验风险（危险性、风险性、危险）;染色体 22q11.2 缺失症候群先验风险;迪乔治综合征先验风险;DiGeorge 综合征先验风险;迪乔治综合症先验风险;狄乔治氏症候群先验风险;迪格奥尔格综合征先验风险;DiGeorge syndrome;DGS;迪乔治畸形;DiGeorge anomaly;颚心脸综合征;腭心面综合征;心瓣面综合征;圆锥动脉干异常面容综合征;异分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;分子病理学试验可用数量表示的;定量性;数值型;数量型;连续数值型标尺可能性;似然;可能基于一般（普通）人群风险的方法时刻;随机;随意;瞬间胎;超系统 - 胎儿

Example Units

Unit	Source
{risk}	Example UCUM Units

75575-1 Fetal 22q11.2 deletion prior risk [Likelihood] based on general population risk Narrative

Part Descriptions

LP185907-5 based on general population risk
The risk of having or developing a specific disorder can be calculated by several different methods. One method uses known statistics for the general population as a whole to estimate a single individual's risk. For example, if 30 cases of a certain genetic condition that presents at birth are diagnosed in one year in a geographic area that has 300,000 live births per year, the individual infant's risk of having this condition is approximately 1 in 10,000 live births. Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component: 22q11.2 deletion prior risk
Property: Likelihood
Time: Pt
System: ^Fetus
Scale: Nar
Method: Based on general population risk

Additional Names

Short Name: Fet 22q11.2 del prior risk from Pop risk
Display Name: 22q11.2 del prior risk based on general population risk Nar (fetus)
Consumer Name Alpha Get Info: Fetal 22q11.2 deletion prior risk

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo previo de deleción 22q11.2:Probabilidad:Punto temporal:^ Feto:Narrativo:basado en el riesgo de la población general
es-ES	Spanish (Spain)	Riesgo previo de deleción 22q11.2:Probabilidad:Punto temporal:^Feto:Narrativo:Basado en el riesgo de la población general
fr-FR	French (France)	Risque prédominant délétion 22q11.2:Probabilité:Ponctuel:Concerne le foetus:Résultat textuel:Basé sur le risque pour la population
it-IT	Italian (Italy)	Delezione 22q11.2 rischio preesistente:Probabilità:Pt:^feto:Nar:basato sul rischio nella popolazione generale Synonyms: Delezione genetica Patologia molecolare Punto nel tempo (episodio)
zh-CN	Chinese (China)	22q11.2 染色体缺失先验风险:似然性:时间点:^胎儿:叙述型:基于一般人群风险的方法 Synonyms: 22q11.2 染色体缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）先验风险（事前风险、事先风险）;22q11.2 染色体缺失综合征先验风险（危险性、风险性、危险）;染色体 22q11.2 缺失症候群先验风险;迪乔治综合征先验风险;DiGeorge 综合征先验风险;迪乔治综合症先验风险;狄乔治氏症候群先验风险;迪格奥尔格综合征先验风险;DiGeorge syndrome;DGS;迪乔治畸形;DiGeorge anomaly;颚心脸综合征;腭心面综合征;心瓣面综合征;圆锥动脉干异常面容综合征;异分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;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;文本描述型可能性;似然;可能基于一般（普通）人群风险的方法时刻;随机;随意;瞬间胎;超系统 - 胎儿

75576-9 Fetal 22q11.2 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
Source: Regenstrief LOINC

Part Descriptions

LP185776-4 Fetal 22q11.2 deletion risk
22q11.2 deletion syndrome, also known by many other names including DiGeorge syndrome, CATCH22, and velocardiofacial syndrome, is caused by the deletion of a small piece of chromosome 22. 22q11.2 deletion syndrome is associated with variable characteristics including congenital heart disease, recurrent infection due to immune dysfunction, cleft palate and other distinct facial features, cognitive delay and autoimmune disease. The general population risk of 22q11.2 deletion is about 1 in 4,000 live births, and does not change with maternal age. Fetal risk of having 22q11.2 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [MedlinePlus Condition: 22q112-deletion-syndrome] Source: Regenstrief LOINC, GHR: 22q11.2 deletion syndrome

Condition for Inclusion

Microdeletion risk analysis requested as part of lab order.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Fetal 22q11.2 deletion risk
Property: Likelihood
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Qn
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet 22q11.2 del risk WBC.DNA+cfDNA Qn
Display Name: 22q11.2 del risk Dosage of chromosome-specific cfDNA Qn (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal 22q11.2 deletion risk

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de deleción fetal 22q11.2:Probabilidad:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Cuantitativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de deleción 22q11.2:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Qn:Dosificación de ADN ccf de cromosoma específico Synonyms: Cuantitativo
fr-FR	French (France)	Risque délétion 22q11.2 foetale:Probabilité:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Numérique:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Delezione 22q11.2 rischio:Probabilità:Pt:WBC.DNA+Plas.cfDNA:Qn:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: Delezione genetica DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio)
zh-CN	Chinese (China)	胎儿 22q11.2 染色体缺失风险:似然性:时间点:白细胞.DNA+血浆.cfDNA:定量型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;分子病理学试验可用数量表示的;定量性;数值型;数量型;连续数值型标尺可能性;似然;可能时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 22q11.2 染色体缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）综合征风险（危险性、风险性、危险）;染色体 22q11.2 缺失症候群风险;迪乔治综合征风险;DiGeorge 综合征风险;迪乔治综合症风险;狄乔治氏症候群风险;迪格奥尔格综合征风险;DiGeorge syndrome;DGS;迪乔治畸形;DiGeorge anomaly;颚心脸综合征;腭心面综合征;心瓣面综合征;圆锥动脉干异常面容综合征;异常面综合征;斯特朗综合征;先天性胸腺发育不全;先天性胸腺发育不良;胸腺发育不全; 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

Example Units

Unit	Source
{risk}	Example UCUM Units

75577-7 Fetal 22q11.2 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
Source: Regenstrief LOINC

Part Descriptions

LP185776-4 Fetal 22q11.2 deletion risk
22q11.2 deletion syndrome, also known by many other names including DiGeorge syndrome, CATCH22, and velocardiofacial syndrome, is caused by the deletion of a small piece of chromosome 22. 22q11.2 deletion syndrome is associated with variable characteristics including congenital heart disease, recurrent infection due to immune dysfunction, cleft palate and other distinct facial features, cognitive delay and autoimmune disease. The general population risk of 22q11.2 deletion is about 1 in 4,000 live births, and does not change with maternal age. Fetal risk of having 22q11.2 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [MedlinePlus Condition: 22q112-deletion-syndrome] Source: Regenstrief LOINC, GHR: 22q11.2 deletion syndrome

Observation Required in Panel

Optional

Fully-Specified Name

Component: Fetal 22q11.2 deletion risk
Property: Likelihood
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Nar
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet 22q11.2 del risk WBC.DNA+cfDNA
Display Name: 22q11.2 del risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal 22q11.2 deletion risk

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de deleción fetal 22q11.2:Probabilidad:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Narrativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de deleción 22q11.2:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque délétion 22q11.2 foetale:Probabilité:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Résultat textuel:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Delezione 22q11.2 rischio:Probabilità:Pt:WBC.DNA+Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: Delezione genetica DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio)
zh-CN	Chinese (China)	胎儿 22q11.2 染色体缺失风险:似然性:时间点:白细胞.DNA+血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;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;文本描述型可能性;似然;可能时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 22q11.2 染色体缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）综合征风险（危险性、风险性、危险）;染色体 22q11.2 缺失症候群风险;迪乔治综合征风险;DiGeorge 综合征风险;迪乔治综合症风险;狄乔治氏症候群风险;迪格奥尔格综合征风险;DiGeorge syndrome;DGS;迪乔治畸形;DiGeorge anomaly;颚心脸综合征;腭心面综合征;心瓣面综合征;圆锥动脉干异常面容综合征;异常面综合征;斯特朗综合征;先天性胸腺发育不全;先天性胸腺发育不良;胸腺发育不全; 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

75578-5 Fetal 22q11.2 deletion risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
Source: Regenstrief LOINC

Part Descriptions

LP185776-4 Fetal 22q11.2 deletion risk
22q11.2 deletion syndrome, also known by many other names including DiGeorge syndrome, CATCH22, and velocardiofacial syndrome, is caused by the deletion of a small piece of chromosome 22. 22q11.2 deletion syndrome is associated with variable characteristics including congenital heart disease, recurrent infection due to immune dysfunction, cleft palate and other distinct facial features, cognitive delay and autoimmune disease. The general population risk of 22q11.2 deletion is about 1 in 4,000 live births, and does not change with maternal age. Fetal risk of having 22q11.2 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [MedlinePlus Condition: 22q112-deletion-syndrome] Source: Regenstrief LOINC, GHR: 22q11.2 deletion syndrome

Condition for Inclusion

Microdeletion risk analysis requested as part of lab order.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Fetal 22q11.2 deletion risk
Property: Imp
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Ord
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet 22q11.2 del risk WBC.DNA+cfDNA Ql
Display Name: 22q11.2 del risk Dosage of chromosome-specific cfDNA Ql (Plasma cell-free+WBC DNA) [Interp]
Consumer Name Alpha Get Info: Fetal 22q11.2 deletion risk

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Example Answer List LL3000-8

Answer	Code	Score	Answer ID
Low risk			LA19542-2
High risk			LA19541-4
Risk unchanged			LA21393-6
Test not performed Copyright http://snomed.info/sct ID:262008008 Not performed (qualifier value)			LA13546-9

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de deleción fetal 22q11.2:Impresión / interpretación del estudio:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Ordinal:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de deleción 22q11.2:Impresión/interpretación del estudio:Punto temporal:ADN en plasma libre de células y leucocitos:Ord:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque délétion 22q11.2 foetale:Interprétation:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Qualitatif:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Delezione 22q11.2 rischio:Imp:Pt:WBC.DNA+Plas.cfDNA:Ord:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: Delezione genetica DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio)
zh-CN	Chinese (China)	胎儿 22q11.2 染色体缺失风险:印象:时间点:白细胞.DNA+血浆.cfDNA:序数型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞依次型;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;顺序型分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;分子病理学试验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;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 22q11.2 染色体缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）综合征风险（危险性、风险性、危险）;染色体 22q11.2 缺失症候群风险;迪乔治综合征风险;DiGeorge 综合征风险;迪乔治综合症风险;狄乔治氏症候群风险;迪格奥尔格综合征风险;DiGeorge syndrome;DGS;迪乔治畸形;DiGeorge anomaly;颚心脸综合征;腭心面综合征;心瓣面综合征;圆锥动脉干异常面容综合征;异常面综合征;斯特朗综合征;先天性胸腺发育不全;先天性胸腺发育不良;胸腺发育不全; 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

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75579-3 Comment on fetal 22q11.2 deletion risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
Source: Regenstrief LOINC

Part Descriptions

LP185989-3 Comment on fetal 22q11.2 deletion risk
22q11.2 deletion syndrome, also known by many other names including DiGeorge syndrome, CATCH22, and velocardiofacial syndrome, is caused by the deletion of a small piece of chromosome 22. 22q11.2 deletion syndrome is associated with variable characteristics including congenital heart disease, recurrent infection due to immune dysfunction, cleft palate and other distinct facial features, cognitive delay and autoimmune disease. The general population risk of 22q11.2 deletion is about 1 in 4,000 live births, and does not change with maternal age. Fetal risk of having 22q11.2 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [MedlinePlus Condition: 22q112-deletion-syndrome] Source: Regenstrief LOINC, GHR: 22q11.2 deletion syndrome

LP185989-3 Comment on fetal 22q11.2 deletion risk
The genetic counselor's comment regarding risk of a specific disorder or group of disorders is used to convey follow-up recommendations or other information related to the risk result and interpretation. Source: Regenstrief LOINC

Condition for Inclusion

If fetal 22q11.2 deletion risk is high, a genetic counselor comment should be included.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Comment on fetal 22q11.2 deletion risk
Property: Txt
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Nar
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet 22q11.2 del risk comment
Display Name: Comment on fetal 22q11.2 del risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal Comment on fetal 22q11.2 deletion risk

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Release 2.70: COMPONENT: Removed "Genetic counselor" to broaden use since various specialists may provide comments on test results.; Previous Releases: Added "fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Comentario del asesor genético sobre el riesgo de deleción fetal 22q11.2:Texto:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Narrativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Comentario de consejo genético en riesgo de deleción 22q11,2:Texto:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque délétion 22q11.2 foetale (commentaire du conseiller génétique):Texte:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Résultat textuel:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Commento su rischio delezione 22q11.2:Txt:Pt:WBC.DNA+Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: Delezione genetica DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio) Testo
zh-CN	Chinese (China)	关于胎儿 22q11.2 染色体缺失风险的遗传咨询师意见:文本型属性:时间点:白细胞.DNA+血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞关于胎儿 22q11.2 染色体缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）（22q11.2 染色体缺失综合征、染色体 22q11.2 缺失症候群、迪乔治综合征、DiGeorge 综合征、迪乔治综合症、狄乔治氏症候群、迪格奥尔格综合征）风险（危险性、风险性、危险）的遗传咨询师（遗传病辅导员、基因咨询师、遗传谘询师、基因谘询师）意见（评论、解释、注释、注解、点评）;DiGeorge syndrome;DGS;迪乔治畸形;DiGeorge anomaly;颚心脸综合征;腭心面综合征;心瓣面综合征分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;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;文本属性时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 注解特异特异性的特异的短评胎儿 22q11.2 染色体缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）综合征风险（危险性、风险性、危险）;染色体 22q11.2 缺失症候群风险;迪乔治综合征风险;DiGeorge 综合征风险;迪乔治综合症风险;狄乔治氏症候群风险;迪格奥尔格综合征风险;DiGeorge syndrome;DGS;迪乔治畸形;DiGeorge anomaly;颚心脸综合征;腭心面综合征;心瓣面综合征;圆锥动脉干异常面容综合征;异常面综合征;斯特朗综合征;先天性胸腺发育不全;先天性胸腺发育不良;胸腺发育不全; 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA 解说解释评定评注评论评语说明

75598-3 Fetal 1p36 deletion prior risk [Likelihood] based on general population risk

Part Descriptions

LP185907-5 based on general population risk
The risk of having or developing a specific disorder can be calculated by several different methods. One method uses known statistics for the general population as a whole to estimate a single individual's risk. For example, if 30 cases of a certain genetic condition that presents at birth are diagnosed in one year in a geographic area that has 300,000 live births per year, the individual infant's risk of having this condition is approximately 1 in 10,000 live births. Source: Regenstrief LOINC

Condition for Inclusion

Microdeletion risk analysis requested as part of lab order.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: 1p36 deletion prior risk
Property: Likelihood
Time: Pt
System: ^Fetus
Scale: Qn
Method: Based on general population risk

Additional Names

Short Name: Fet 1p36 del prior risk from Pop risk
Display Name: 1p36 del prior risk based on general population risk Qn (fetus)
Consumer Name Alpha Get Info: Fetal 1p36 deletion prior risk

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo previo de deleción 1p36:Probabilidad:Punto temporal:^ Feto:Cuantitativo:basado en el riesgo de la población general
es-ES	Spanish (Spain)	Riesgo previo de deleción 1p36:Probabilidad:Punto temporal:^Feto:Qn:Basado en el riesgo de la población general Synonyms: Cuantitativo
fr-FR	French (France)	Risque prédominant délétion 1p36:Probabilité:Ponctuel:Concerne le foetus:Numérique:Basé sur le risque pour la population
it-IT	Italian (Italy)	Delezione 1p36 rischio preesistente:Probabilità:Pt:^feto:Qn:basato sul rischio nella popolazione generale Synonyms: Delezione genetica Patologia molecolare Punto nel tempo (episodio)
zh-CN	Chinese (China)	1p36 染色体缺失先验风险:似然性:时间点:^胎儿:定量型:基于一般人群风险的方法 Synonyms: 1p36 染色体缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）先验风险（事前风险、事先风险）;1p36 染色体缺失综合征先验风险（危险性、风险性、危险）;染色体 1p36 缺失症候群先验风险;1p36 染色体缺失综合征;单体型 1p36;单体性 1p36 单体;1p36;1p36 deletion syndrome;monosomy 1p36 分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;分子病理学试验可用数量表示的;定量性;数值型;数量型;连续数值型标尺可能性;似然;可能基于一般（普通）人群风险的方法时刻;随机;随意;瞬间胎;超系统 - 胎儿

Example Units

Unit	Source
{risk}	Example UCUM Units

75599-1 Fetal 1p36 deletion prior risk [Likelihood] based on general population risk Narrative

Part Descriptions

LP185907-5 based on general population risk
The risk of having or developing a specific disorder can be calculated by several different methods. One method uses known statistics for the general population as a whole to estimate a single individual's risk. For example, if 30 cases of a certain genetic condition that presents at birth are diagnosed in one year in a geographic area that has 300,000 live births per year, the individual infant's risk of having this condition is approximately 1 in 10,000 live births. Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component: 1p36 deletion prior risk
Property: Likelihood
Time: Pt
System: ^Fetus
Scale: Nar
Method: Based on general population risk

Additional Names

Short Name: Fet 1p36 del prior risk from Pop risk
Display Name: 1p36 del prior risk based on general population risk Nar (fetus)
Consumer Name Alpha Get Info: Fetal 1p36 deletion prior risk

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo previo de deleción 1p36:Probabilidad:Punto temporal:^ Feto:Narrativo:basado en el riesgo de la población general
es-ES	Spanish (Spain)	Riesgo previo de deleción 1p36:Probabilidad:Punto temporal:^Feto:Narrativo:Basado en el riesgo de la población general
fr-FR	French (France)	Risque prédominant délétion 1p36:Probabilité:Ponctuel:Concerne le foetus:Résultat textuel:Basé sur le risque pour la population
it-IT	Italian (Italy)	Delezione 1p36 rischio preesistente:Probabilità:Pt:^feto:Nar:basato sul rischio nella popolazione generale Synonyms: Delezione genetica Patologia molecolare Punto nel tempo (episodio)
zh-CN	Chinese (China)	1p36 染色体缺失先验风险:似然性:时间点:^胎儿:叙述型:基于一般人群风险的方法 Synonyms: 1p36 染色体缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）先验风险（事前风险、事先风险）;1p36 染色体缺失综合征先验风险（危险性、风险性、危险）;染色体 1p36 缺失症候群先验风险;1p36 染色体缺失综合征;单体型 1p36;单体性 1p36 单体;1p36;1p36 deletion syndrome;monosomy 1p36 分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;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;文本描述型可能性;似然;可能基于一般（普通）人群风险的方法时刻;随机;随意;瞬间胎;超系统 - 胎儿

75600-7 Fetal 1p36 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
Source: Regenstrief LOINC

Part Descriptions

LP185774-9 Fetal 1p36 deletion risk
1p36 deletion syndrome is caused by the deletion of several genes in the short arm of chromosome 1 and is associated with severe cognitive delay, seizure disorder, weak muscle tone, swallowing difficulty, and distinctive facial features. The general population risk of 1p36 deletion is about 1 in 5,000 - 10,000 live births, and does not change with maternal age. Fetal risk of having 1p36 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [MedlinePlus Condition: 1p36-deletion-syndrome] Source: Regenstrief LOINC, GHR: 1p36 deletion syndrome

Condition for Inclusion

Microdeletion risk analysis requested as part of lab order.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Fetal 1p36 deletion risk
Property: Likelihood
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Qn
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet 1p36 del risk WBC.DNA+cfDNA Qn
Display Name: 1p36 del risk Dosage of chromosome-specific cfDNA Qn (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal 1p36 deletion risk

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de deleción fetal 1p36:Probabilidad:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Cuantitativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de deleción 1p36:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Qn:Dosificación de ADN ccf de cromosoma específico Synonyms: Cuantitativo
fr-FR	French (France)	Risque délétion 1p36 foetale:Probabilité:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Numérique:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Delezione 1p36 rischio:Probabilità:Pt:WBC.DNA+Plas.cfDNA:Qn:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: Delezione genetica DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio)
zh-CN	Chinese (China)	胎儿 1p36 染色体缺失风险:似然性:时间点:白细胞.DNA+血浆.cfDNA:定量型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;分子病理学试验可用数量表示的;定量性;数值型;数量型;连续数值型标尺可能性;似然;可能时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 1p36 染色体缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）综合征风险（危险性、风险性、危险）;染色体 1p36 缺失症候群风险;1p36 染色体缺失综合征;单体型 1p36;单体性 1p36 单体;1p36;1p36 deletion syndrome;monosomy 1p36 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

Example Units

Unit	Source
{risk}	Example UCUM Units

75601-5 Fetal 1p36 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
Source: Regenstrief LOINC

Part Descriptions

LP185774-9 Fetal 1p36 deletion risk
1p36 deletion syndrome is caused by the deletion of several genes in the short arm of chromosome 1 and is associated with severe cognitive delay, seizure disorder, weak muscle tone, swallowing difficulty, and distinctive facial features. The general population risk of 1p36 deletion is about 1 in 5,000 - 10,000 live births, and does not change with maternal age. Fetal risk of having 1p36 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [MedlinePlus Condition: 1p36-deletion-syndrome] Source: Regenstrief LOINC, GHR: 1p36 deletion syndrome

Observation Required in Panel

Optional

Fully-Specified Name

Component: Fetal 1p36 deletion risk
Property: Likelihood
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Nar
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet 1p36 del risk WBC.DNA+cfDNA
Display Name: 1p36 del risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal 1p36 deletion risk

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de deleción fetal 1p36:Probabilidad:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Narrativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de deleción 1p36:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque délétion 1p36 foetale:Probabilité:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Résultat textuel:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Delezione 1p36 rischio:Probabilità:Pt:WBC.DNA+Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: Delezione genetica DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio)
zh-CN	Chinese (China)	胎儿 1p36 染色体缺失风险:似然性:时间点:白细胞.DNA+血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;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;文本描述型可能性;似然;可能时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 1p36 染色体缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）综合征风险（危险性、风险性、危险）;染色体 1p36 缺失症候群风险;1p36 染色体缺失综合征;单体型 1p36;单体性 1p36 单体;1p36;1p36 deletion syndrome;monosomy 1p36 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

75602-3 Fetal 1p36 deletion risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
Source: Regenstrief LOINC

Part Descriptions

LP185774-9 Fetal 1p36 deletion risk
1p36 deletion syndrome is caused by the deletion of several genes in the short arm of chromosome 1 and is associated with severe cognitive delay, seizure disorder, weak muscle tone, swallowing difficulty, and distinctive facial features. The general population risk of 1p36 deletion is about 1 in 5,000 - 10,000 live births, and does not change with maternal age. Fetal risk of having 1p36 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [MedlinePlus Condition: 1p36-deletion-syndrome] Source: Regenstrief LOINC, GHR: 1p36 deletion syndrome

Condition for Inclusion

Microdeletion risk analysis requested as part of lab order.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Fetal 1p36 deletion risk
Property: Imp
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Ord
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet 1p36 del risk WBC.DNA+cfDNA Ql
Display Name: 1p36 del risk Dosage of chromosome-specific cfDNA Ql (Plasma cell-free+WBC DNA) [Interp]
Consumer Name Alpha Get Info: Fetal 1p36 deletion risk

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Example Answer List LL3000-8

Answer	Code	Score	Answer ID
Low risk			LA19542-2
High risk			LA19541-4
Risk unchanged			LA21393-6
Test not performed Copyright http://snomed.info/sct ID:262008008 Not performed (qualifier value)			LA13546-9

Member of these Panels

LOINC	Long Common Name
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de deleción fetal 1p36:Impresión / interpretación del estudio:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Ordinal:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de deleción 1p36:Impresión/interpretación del estudio:Punto temporal:ADN en plasma libre de células y leucocitos:Ord:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque délétion 1p36 foetale:Interprétation:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Qualitatif:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Delezione 1p36 rischio:Imp:Pt:WBC.DNA+Plas.cfDNA:Ord:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: Delezione genetica DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio)
zh-CN	Chinese (China)	胎儿 1p36 染色体缺失风险:印象:时间点:白细胞.DNA+血浆.cfDNA:序数型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞依次型;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;顺序型分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;分子病理学试验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;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 1p36 染色体缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）综合征风险（危险性、风险性、危险）;染色体 1p36 缺失症候群风险;1p36 染色体缺失综合征;单体型 1p36;单体性 1p36 单体;1p36;1p36 deletion syndrome;monosomy 1p36 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

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.

75603-1 Comment on fetal 1p36 deletion risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
Source: Regenstrief LOINC

Part Descriptions

LP185994-3 Comment on fetal 1p36 deletion risk
1p36 deletion syndrome is caused by the deletion of several genes in the short arm of chromosome 1 and is associated with severe cognitive delay, seizure disorder, weak muscle tone, swallowing difficulty, and distinctive facial features. The general population risk of 1p36 deletion is about 1 in 5,000 - 10,000 live births, and does not change with maternal age. Fetal risk of having 1p36 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [MedlinePlus Condition: 1p36-deletion-syndrome] Source: Regenstrief LOINC, GHR: 1p36 deletion syndrome

LP185994-3 Comment on fetal 1p36 deletion risk
The genetic counselor's comment regarding risk of a specific disorder or group of disorders is used to convey follow-up recommendations or other information related to the risk result and interpretation. Source: Regenstrief LOINC

Condition for Inclusion

If fetal 1p36 deletion risk is high, a genetic counselor comment should be included.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Comment on fetal 1p36 deletion risk
Property: Txt
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Nar
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet 1p36 del risk comment
Display Name: Comment on fetal 1p36 del risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Comment on fetal 1p36 deletion risk

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Release 2.70: COMPONENT: Removed "Genetic counselor" to broaden use since various specialists may provide comments on test results.; Previous Releases: Added "fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Comentario de consejo genético en riesgo general de deleción 1p36:Texto:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico
es-MX	Spanish (Mexico)	Comentario del asesor genético sobre el riesgo de deleción fetal 1p36:Texto:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Narrativo:Dosis de cfDNA cromosómico específico
fr-FR	French (France)	Risque délétion 1p36 foetale (commentaire du conseiller génétique):Texte:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Résultat textuel:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Commento su rischio delezione 1p36:Txt:Pt:WBC.DNA+Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: Delezione genetica DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio) Testo
zh-CN	Chinese (China)	关于胎儿 1p36 染色体缺失风险的遗传咨询师意见:文本型属性:时间点:白细胞.DNA+血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞关于胎儿 1p36 染色体缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）（1p36 染色体缺失综合征、染色体 1p36 缺失症候群）风险（危险性、风险性、危险）的遗传咨询师（遗传病辅导员、基因咨询师、遗传谘询师、基因谘询师）意见（评论、解释、注释、注解、点评）;1p36 染色体缺失综合征;单体型 1p36;单体性 1p36 单体;1p36;1p36 deletion syndrome;monosomy 1p36 分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;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;文本属性时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 注解特异特异性的特异的短评胎儿 1p36 染色体缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）综合征风险（危险性、风险性、危险）;染色体 1p36 缺失症候群风险;1p36 染色体缺失综合征;单体型 1p36;单体性 1p36 单体;1p36;1p36 deletion syndrome;monosomy 1p36 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA 解说解释评定评注评论评语说明

75586-8 Fetal Angelman syndrome prior risk [Likelihood] based on general population risk

Part Descriptions

LP185907-5 based on general population risk
The risk of having or developing a specific disorder can be calculated by several different methods. One method uses known statistics for the general population as a whole to estimate a single individual's risk. For example, if 30 cases of a certain genetic condition that presents at birth are diagnosed in one year in a geographic area that has 300,000 live births per year, the individual infant's risk of having this condition is approximately 1 in 10,000 live births. Source: Regenstrief LOINC

Condition for Inclusion

Microdeletion risk analysis requested as part of lab order.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Angelman syndrome prior risk
Property: Likelihood
Time: Pt
System: ^Fetus
Scale: Qn
Method: Based on general population risk

Additional Names

Short Name: Fet AS prior risk from Pop risk
Display Name: Angelman syndrome prior risk based on general population risk Qn (fetus)
Consumer Name Alpha Get Info: Fetal Angelman syndrome prior risk

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo previo del síndrome de Angelman:Probabilidad:Punto temporal:^ Feto:Cuantitativo:basado en el riesgo de la población general
es-ES	Spanish (Spain)	Riesgo previo de síndrome de Angelman:Probabilidad:Punto temporal:^Feto:Qn:Basado en el riesgo de la población general Synonyms: Cuantitativo
fr-FR	French (France)	Risque prédominant syndrome d'Angelman:Probabilité:Ponctuel:Concerne le foetus:Numérique:Basé sur le risque pour la population
it-IT	Italian (Italy)	Sindrome di Angelman, rischio preesistente:Probabilità:Pt:^feto:Qn:basato sul rischio nella popolazione generale Synonyms: Patologia molecolare Punto nel tempo (episodio) Rischio preesistente di sindrome di Angelman
zh-CN	Chinese (China)	安吉尔曼综合征先验风险:似然性:时间点:^胎儿:定量型:基于一般人群风险的方法 Synonyms: 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;连续数值型标尺可能性;似然;可能基于一般（普通）人群风险的方法安吉尔曼综合征先验风险（事前风险、事先风险）;Angelman 综合征先验风险（危险性、风险性、危险）;快乐木偶综合征先验风险;安裘曼氏症先验风险;天使人综合症先验风险;快乐木偶综合症先验风险时刻;随机;随意;瞬间胎;超系统 - 胎儿

Example Units

Unit	Source
{risk}	Example UCUM Units

75587-6 Fetal Angelman syndrome prior risk [Likelihood] based on general population risk Narrative

Part Descriptions

LP185907-5 based on general population risk
The risk of having or developing a specific disorder can be calculated by several different methods. One method uses known statistics for the general population as a whole to estimate a single individual's risk. For example, if 30 cases of a certain genetic condition that presents at birth are diagnosed in one year in a geographic area that has 300,000 live births per year, the individual infant's risk of having this condition is approximately 1 in 10,000 live births. Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component: Angelman syndrome prior risk
Property: Likelihood
Time: Pt
System: ^Fetus
Scale: Nar
Method: Based on general population risk

Additional Names

Short Name: Fet AS prior risk from Pop risk
Display Name: Angelman syndrome prior risk based on general population risk Nar (fetus)
Consumer Name Alpha Get Info: Fetal Angelman syndrome prior risk

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo previo del síndrome de Angelman:Probabilidad:Punto temporal:^ Feto:Narrativo:basado en el riesgo de la población general
es-ES	Spanish (Spain)	Riesgo previo de síndrome de Angelman:Probabilidad:Punto temporal:^Feto:Narrativo:Basado en el riesgo de la población general
fr-FR	French (France)	Risque prédominant syndrome d'Angelman:Probabilité:Ponctuel:Concerne le foetus:Résultat textuel:Basé sur le risque pour la population
it-IT	Italian (Italy)	Sindrome di Angelman, rischio preesistente:Probabilità:Pt:^feto:Nar:basato sul rischio nella popolazione generale Synonyms: Patologia molecolare Punto nel tempo (episodio) Rischio preesistente di sindrome di Angelman
zh-CN	Chinese (China)	安吉尔曼综合征先验风险:似然性:时间点:^胎儿:叙述型:基于一般人群风险的方法 Synonyms: 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;文本描述型可能性;似然;可能基于一般（普通）人群风险的方法安吉尔曼综合征先验风险（事前风险、事先风险）;Angelman 综合征先验风险（危险性、风险性、危险）;快乐木偶综合征先验风险;安裘曼氏症先验风险;天使人综合症先验风险;快乐木偶综合症先验风险时刻;随机;随意;瞬间胎;超系统 - 胎儿

75588-4 Fetal Angelman syndrome risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
Source: Regenstrief LOINC

Part Descriptions

LP185771-5 Fetal Angelman syndrome risk
Angelman syndrome risk refers to the fetus's risk of having Angelman syndrome. The risk for the fetus can be derived from the general population risk as well as prenatal genetic testing of fetal DNA.Angelman syndrome is primarily caused by the functional loss of the UBE3A gene on chromosome 15. In certain areas of the brain, only the maternal copy of this gene is active due to genomic imprinting, and in Angelman syndrome, the maternal copy is missing. The genetic basis for Angelman syndrome is the inverse of the basis for Prader-Willi syndrome, in which the paternal copy of certain genes on chromosome 15 are missing. About 70% of cases are due to the deletion of a portion of the maternal chromosome 15, and another 11% are due to a mutation in the maternal copy of UBE3A. Cases may also be due to the presence of two paternal chromosome 15 copies (called uniparental disomy, meaning two copies from one parent) instead of one maternal and one paternal, chromosomal translocation, or abnormal inactivation of genes on maternal chromosome 15. In 10 to 15% of cases, the cause is unknown.
Angelman syndrome is associated with cognitive delay, seizure disorder, speech impairment, and microcephaly. Children with Angelman syndrome exhibit a happy appearance with frequent smiling, laughing, and hand-flapping, as well as hyperactivity and short attention span. The general population risk of Angelman syndrome is about 1 in 12,000 - 20,000 live births, and does not change with maternal age. [MedlinePlus Condition: angelman-syndrome] Source: Regenstrief LOINC, GHR: Angelman syndrome

Condition for Inclusion

Microdeletion risk analysis requested as part of lab order.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Fetal Angelman syndrome risk
Property: Likelihood
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Qn
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet AS risk WBC.DNA+cfDNA Qn
Display Name: Angelman syndrome risk Dosage of chromosome-specific cfDNA Qn (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal Angelman syndrome risk

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de síndrome de Angelman fetal:Probabilidad:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Cuantitativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de síndrome de Angelman:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Qn:Dosificación de ADN ccf de cromosoma específico Synonyms: Cuantitativo
fr-FR	French (France)	Risque syndrome d'Angelman foetal:Probabilité:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Numérique:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Sindrome di Angelman, rischio:Probabilità:Pt:WBC.DNA+Plas.cfDNA:Qn:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di sindrome di Angelman
zh-CN	Chinese (China)	胎儿安吉尔曼综合征风险:似然性:时间点:白细胞.DNA+血浆.cfDNA:定量型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞分子病理学;分子病理学试验可用数量表示的;定量性;数值型;数量型;连续数值型标尺可能性;似然;可能时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 Angelman 综合征风险（危险性、风险性、危险）;快乐木偶综合征风险;安裘曼氏症风险;天使人综合症风险;快乐木偶综合症风险血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

Example Units

Unit	Source
{risk}	Example UCUM Units

75589-2 Fetal Angelman syndrome risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
Source: Regenstrief LOINC

Part Descriptions

LP185771-5 Fetal Angelman syndrome risk
Angelman syndrome risk refers to the fetus's risk of having Angelman syndrome. The risk for the fetus can be derived from the general population risk as well as prenatal genetic testing of fetal DNA.Angelman syndrome is primarily caused by the functional loss of the UBE3A gene on chromosome 15. In certain areas of the brain, only the maternal copy of this gene is active due to genomic imprinting, and in Angelman syndrome, the maternal copy is missing. The genetic basis for Angelman syndrome is the inverse of the basis for Prader-Willi syndrome, in which the paternal copy of certain genes on chromosome 15 are missing. About 70% of cases are due to the deletion of a portion of the maternal chromosome 15, and another 11% are due to a mutation in the maternal copy of UBE3A. Cases may also be due to the presence of two paternal chromosome 15 copies (called uniparental disomy, meaning two copies from one parent) instead of one maternal and one paternal, chromosomal translocation, or abnormal inactivation of genes on maternal chromosome 15. In 10 to 15% of cases, the cause is unknown.
Angelman syndrome is associated with cognitive delay, seizure disorder, speech impairment, and microcephaly. Children with Angelman syndrome exhibit a happy appearance with frequent smiling, laughing, and hand-flapping, as well as hyperactivity and short attention span. The general population risk of Angelman syndrome is about 1 in 12,000 - 20,000 live births, and does not change with maternal age. [MedlinePlus Condition: angelman-syndrome] Source: Regenstrief LOINC, GHR: Angelman syndrome

Observation Required in Panel

Optional

Fully-Specified Name

Component: Fetal Angelman syndrome risk
Property: Likelihood
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Nar
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet AS risk WBC.DNA+cfDNA
Display Name: Angelman syndrome risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal Angelman syndrome risk

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de síndrome de Angelman fetal:Probabilidad:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Narrativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de síndrome de Angelman:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque syndrome d'Angelman foetal:Probabilité:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Résultat textuel:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Sindrome di Angelman, rischio:Probabilità:Pt:WBC.DNA+Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di sindrome di Angelman
zh-CN	Chinese (China)	胎儿安吉尔曼综合征风险:似然性:时间点:白细胞.DNA+血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞分子病理学;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;文本描述型可能性;似然;可能时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 Angelman 综合征风险（危险性、风险性、危险）;快乐木偶综合征风险;安裘曼氏症风险;天使人综合症风险;快乐木偶综合症风险血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

75590-0 Fetal Angelman syndrome risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
Source: Regenstrief LOINC

Part Descriptions

LP185771-5 Fetal Angelman syndrome risk
Angelman syndrome risk refers to the fetus's risk of having Angelman syndrome. The risk for the fetus can be derived from the general population risk as well as prenatal genetic testing of fetal DNA.Angelman syndrome is primarily caused by the functional loss of the UBE3A gene on chromosome 15. In certain areas of the brain, only the maternal copy of this gene is active due to genomic imprinting, and in Angelman syndrome, the maternal copy is missing. The genetic basis for Angelman syndrome is the inverse of the basis for Prader-Willi syndrome, in which the paternal copy of certain genes on chromosome 15 are missing. About 70% of cases are due to the deletion of a portion of the maternal chromosome 15, and another 11% are due to a mutation in the maternal copy of UBE3A. Cases may also be due to the presence of two paternal chromosome 15 copies (called uniparental disomy, meaning two copies from one parent) instead of one maternal and one paternal, chromosomal translocation, or abnormal inactivation of genes on maternal chromosome 15. In 10 to 15% of cases, the cause is unknown.
Angelman syndrome is associated with cognitive delay, seizure disorder, speech impairment, and microcephaly. Children with Angelman syndrome exhibit a happy appearance with frequent smiling, laughing, and hand-flapping, as well as hyperactivity and short attention span. The general population risk of Angelman syndrome is about 1 in 12,000 - 20,000 live births, and does not change with maternal age. [MedlinePlus Condition: angelman-syndrome] Source: Regenstrief LOINC, GHR: Angelman syndrome

Condition for Inclusion

Microdeletion risk analysis requested as part of lab order.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Fetal Angelman syndrome risk
Property: Imp
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Ord
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet AS risk WBC.DNA+cfDNA Ql
Display Name: Angelman syndrome risk Dosage of chromosome-specific cfDNA Ql (Plasma cell-free+WBC DNA) [Interp]
Consumer Name Alpha Get Info: Fetal Angelman syndrome risk

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Example Answer List LL3000-8

Answer	Code	Score	Answer ID
Low risk			LA19542-2
High risk			LA19541-4
Risk unchanged			LA21393-6
Test not performed Copyright http://snomed.info/sct ID:262008008 Not performed (qualifier value)			LA13546-9

Member of these Panels

LOINC	Long Common Name
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de síndrome de Angelman fetal:Impresión / interpretación del estudio:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Ordinal:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de síndrome de Angelman:Impresión/interpretación del estudio:Punto temporal:ADN en plasma libre de células y leucocitos:Ord:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque syndrome d'Angelman foetal:Interprétation:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Qualitatif:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Sindrome di Angelman, rischio:Imp:Pt:WBC.DNA+Plas.cfDNA:Ord:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di sindrome di Angelman
zh-CN	Chinese (China)	胎儿安吉尔曼综合征风险:印象:时间点:白细胞.DNA+血浆.cfDNA:序数型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞依次型;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;顺序型分子病理学;分子病理学试验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;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 Angelman 综合征风险（危险性、风险性、危险）;快乐木偶综合征风险;安裘曼氏症风险;天使人综合症风险;快乐木偶综合症风险血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

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.

75591-8 Comment on fetal Angelman syndrome risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
Source: Regenstrief LOINC

Part Descriptions

LP185991-9 Comment on fetal Angelman syndrome risk
Angelman syndrome risk refers to the fetus's risk of having Angelman syndrome. The risk for the fetus can be derived from the general population risk as well as prenatal genetic testing of fetal DNA.Angelman syndrome is primarily caused by the functional loss of the UBE3A gene on chromosome 15. In certain areas of the brain, only the maternal copy of this gene is active due to genomic imprinting, and in Angelman syndrome, the maternal copy is missing. The genetic basis for Angelman syndrome is the inverse of the basis for Prader-Willi syndrome, in which the paternal copy of certain genes on chromosome 15 are missing. About 70% of cases are due to the deletion of a portion of the maternal chromosome 15, and another 11% are due to a mutation in the maternal copy of UBE3A. Cases may also be due to the presence of two paternal chromosome 15 copies (called uniparental disomy, meaning two copies from one parent) instead of one maternal and one paternal, chromosomal translocation, or abnormal inactivation of genes on maternal chromosome 15. In 10 to 15% of cases, the cause is unknown.
Angelman syndrome is associated with cognitive delay, seizure disorder, speech impairment, and microcephaly. Children with Angelman syndrome exhibit a happy appearance with frequent smiling, laughing, and hand-flapping, as well as hyperactivity and short attention span. The general population risk of Angelman syndrome is about 1 in 12,000 - 20,000 live births, and does not change with maternal age. [MedlinePlus Condition: angelman-syndrome] Source: Regenstrief LOINC, GHR: Angelman syndrome

LP185991-9 Comment on fetal Angelman syndrome risk
The genetic counselor's comment regarding risk of a specific disorder or group of disorders is used to convey follow-up recommendations or other information related to the risk result and interpretation. Source: Regenstrief LOINC

Condition for Inclusion

If fetal Angelman syndrome risk is high, a genetic counselor comment should be included.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Comment on fetal Angelman syndrome risk
Property: Txt
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Nar
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet AS risk comment
Display Name: Comment on Angelman syndrome risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Comment on Angelman syndrome risk

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Release 2.70: COMPONENT: Removed "Genetic counselor" to broaden use since various specialists may provide comments on test results.; Previous Releases: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Comentario del consejero genético sobre el riesgo de síndrome de Angelman fetal:Texto:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Narrativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Comentario de consejo genético en riesgo de síndrome de Angelman:Texto:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque syndrome d'Angelman foetal (commentaire du conseiller génétique):Texte:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Résultat textuel:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Commento su rischio sindrome di Angelman:Txt:Pt:WBC.DNA+Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di sindrome di Angelman Testo
zh-CN	Chinese (China)	关于胎儿安吉尔曼综合征风险的遗传咨询师意见:文本型属性:时间点:白细胞.DNA+血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞关于胎儿安吉尔曼综合征（Angelman 综合征、快乐木偶综合征、安裘曼氏症、天使人综合症、快乐木偶综合症）风险（危险性、风险性、危险）的遗传咨询师（遗传病辅导员、基因咨询师、遗传谘询师、基因谘询师）意见（评论、解释、注释、注解、点评）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;文本属性时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 注解特异特异性的特异的短评胎儿 Angelman 综合征风险（危险性、风险性、危险）;快乐木偶综合征风险;安裘曼氏症风险;天使人综合症风险;快乐木偶综合症风险血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA 解说解释评定评注评论评语说明

75592-6 Fetal 5p deletion prior risk [Likelihood] based on general population risk

Part Descriptions

LP185907-5 based on general population risk
The risk of having or developing a specific disorder can be calculated by several different methods. One method uses known statistics for the general population as a whole to estimate a single individual's risk. For example, if 30 cases of a certain genetic condition that presents at birth are diagnosed in one year in a geographic area that has 300,000 live births per year, the individual infant's risk of having this condition is approximately 1 in 10,000 live births. Source: Regenstrief LOINC

Condition for Inclusion

Microdeletion risk analysis requested as part of lab order.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: 5p deletion prior risk
Property: Likelihood
Time: Pt
System: ^Fetus
Scale: Qn
Method: Based on general population risk

Additional Names

Short Name: Fet 5p del prior risk from Pop risk
Display Name: 5p del prior risk based on general population risk Qn (fetus)
Consumer Name Alpha Get Info: Fetal 5p deletion prior risk

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo previo de eliminación 5p:Probabilidad:Punto temporal:^ Feto:Cuantitativo:basado en el riesgo de la población general
es-ES	Spanish (Spain)	Riesgo previo de deleción 5p:Probabilidad:Punto temporal:^Feto:Qn:Basado en el riesgo de la población general Synonyms: Cuantitativo
fr-FR	French (France)	Risque prédominant délétion 5p:Probabilité:Ponctuel:Concerne le foetus:Numérique:Basé sur le risque pour la population
it-IT	Italian (Italy)	Delezione 5p rischio preesistente:Probabilità:Pt:^feto:Qn:basato sul rischio nella popolazione generale Synonyms: Delezione genetica Patologia molecolare Punto nel tempo (episodio)
zh-CN	Chinese (China)	5p 染色体缺失先验风险:似然性:时间点:^胎儿:定量型:基于一般人群风险的方法 Synonyms: 5p 染色体缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）先验风险（事前风险、事先风险）;5p 染色体缺失综合征先验风险（危险性、风险性、危险）;染色体 5p 缺失症候群先验风险;5p 染色体缺失综合征;猫叫综合征;猫叫综合症;猫哭症;猫叫症;5p− 综合征;Lejeune 综合征;勒琼综合征;勒琼氏综合征;Cri du chat syndrome;chromosome 5p deletion syndrome;5p− syndrome;Lejeune''s syndrome 分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;分子病理学试验可用数量表示的;定量性;数值型;数量型;连续数值型标尺可能性;似然;可能基于一般（普通）人群风险的方法时刻;随机;随意;瞬间胎;超系统 - 胎儿

Example Units

Unit	Source
{risk}	Example UCUM Units

75593-4 Fetal 5p deletion prior risk [Likelihood] based on general population risk Narrative

Part Descriptions

LP185907-5 based on general population risk
The risk of having or developing a specific disorder can be calculated by several different methods. One method uses known statistics for the general population as a whole to estimate a single individual's risk. For example, if 30 cases of a certain genetic condition that presents at birth are diagnosed in one year in a geographic area that has 300,000 live births per year, the individual infant's risk of having this condition is approximately 1 in 10,000 live births. Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component: 5p deletion prior risk
Property: Likelihood
Time: Pt
System: ^Fetus
Scale: Nar
Method: Based on general population risk

Additional Names

Short Name: Fet 5p del prior risk from Pop risk
Display Name: 5p del prior risk based on general population risk Nar (fetus)
Consumer Name Alpha Get Info: Fetal 5p deletion prior risk

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo previo de eliminación 5p:Probabilidad:Punto temporal:^ Feto:Narrativo:basado en el riesgo de la población general
es-ES	Spanish (Spain)	Riesgo previo de deleción 5p:Probabilidad:Punto temporal:^Feto:Narrativo:Basado en el riesgo de la población general
fr-FR	French (France)	Risque prédominant délétion 5p:Probabilité:Ponctuel:Concerne le foetus:Résultat textuel:Basé sur le risque pour la population
it-IT	Italian (Italy)	Delezione 5p rischio preesistente:Probabilità:Pt:^feto:Nar:basato sul rischio nella popolazione generale Synonyms: Delezione genetica Patologia molecolare Punto nel tempo (episodio)
zh-CN	Chinese (China)	5p 染色体缺失先验风险:似然性:时间点:^胎儿:叙述型:基于一般人群风险的方法 Synonyms: 5p 染色体缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）先验风险（事前风险、事先风险）;5p 染色体缺失综合征先验风险（危险性、风险性、危险）;染色体 5p 缺失症候群先验风险;5p 染色体缺失综合征;猫叫综合征;猫叫综合症;猫哭症;猫叫症;5p− 综合征;Lejeune 综合征;勒琼综合征;勒琼氏综合征;Cri du chat syndrome;chromosome 5p deletion syndrome;5p− syndrome;Lejeune''s syndrome 分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;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;文本描述型可能性;似然;可能基于一般（普通）人群风险的方法时刻;随机;随意;瞬间胎;超系统 - 胎儿

75594-2 Fetal 5p deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
Source: Regenstrief LOINC

Part Descriptions

LP185908-3 Fetal 5p deletion risk
5p deletion risk refers to the fetus's risk of having 5p deletion syndrome, also known as Cri-du-chat syndrome. The risk can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. 5p deletion syndrome is caused by the deletion of the short arm of chromosome 5. 5p deletion syndrome is associated with low birth weight, weak muscle tone, cognitive delay and microcephaly. The general population risk of 5p deletion is about 1 in 20,000 - 50,000 live births, and does not change with maternal age. [MedlinePlus Condition: cri-du-chat-syndrome] Source: Regenstrief LOINC, GHR: Cri-du-chat syndrome

Condition for Inclusion

Microdeletion risk analysis requested as part of lab order.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Fetal 5p deletion risk
Property: Likelihood
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Qn
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet 5p del risk WBC.DNA+cfDNA Qn
Display Name: 5p del risk Dosage of chromosome-specific cfDNA Qn (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal 5p deletion risk

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de deleción fetal 5p:Probabilidad:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Cuantitativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de deleción 5p:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Qn:Dosificación de ADN ccf de cromosoma específico Synonyms: Cuantitativo
fr-FR	French (France)	Risque délétion 5p foetale:Probabilité:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Numérique:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Delezione 5p rischio:Probabilità:Pt:WBC.DNA+Plas.cfDNA:Qn:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: Delezione genetica DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio)
zh-CN	Chinese (China)	胎儿 5p 染色体缺失风险:似然性:时间点:白细胞.DNA+血浆.cfDNA:定量型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;分子病理学试验可用数量表示的;定量性;数值型;数量型;连续数值型标尺可能性;似然;可能时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 5p 染色体缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）综合征风险（危险性、风险性、危险）;染色体 5p 缺失症候群风险;5p 染色体缺失综合征;猫叫综合征;猫叫综合症;猫哭症;猫叫症;5p− 综合征;Lejeune 综合征;勒琼综合征;勒琼氏综合征;Cri du chat syndrome;chromosome 5p deletion syndrome;5p− syndrome;Lejeune''s syndrome 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

Example Units

Unit	Source
{risk}	Example UCUM Units

75595-9 Fetal 5p deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
Source: Regenstrief LOINC

Part Descriptions

LP185908-3 Fetal 5p deletion risk
5p deletion risk refers to the fetus's risk of having 5p deletion syndrome, also known as Cri-du-chat syndrome. The risk can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. 5p deletion syndrome is caused by the deletion of the short arm of chromosome 5. 5p deletion syndrome is associated with low birth weight, weak muscle tone, cognitive delay and microcephaly. The general population risk of 5p deletion is about 1 in 20,000 - 50,000 live births, and does not change with maternal age. [MedlinePlus Condition: cri-du-chat-syndrome] Source: Regenstrief LOINC, GHR: Cri-du-chat syndrome

Observation Required in Panel

Optional

Fully-Specified Name

Component: Fetal 5p deletion risk
Property: Likelihood
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Nar
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet 5p del risk WBC.DNA+cfDNA
Display Name: 5p del risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal 5p deletion risk

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de deleción fetal 5p:Probabilidad:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Narrativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de deleción 5p:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque délétion 5p foetale:Probabilité:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Résultat textuel:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Delezione 5p rischio:Probabilità:Pt:WBC.DNA+Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: Delezione genetica DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio)
zh-CN	Chinese (China)	胎儿 5p 染色体缺失风险:似然性:时间点:白细胞.DNA+血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;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;文本描述型可能性;似然;可能时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 5p 染色体缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）综合征风险（危险性、风险性、危险）;染色体 5p 缺失症候群风险;5p 染色体缺失综合征;猫叫综合征;猫叫综合症;猫哭症;猫叫症;5p− 综合征;Lejeune 综合征;勒琼综合征;勒琼氏综合征;Cri du chat syndrome;chromosome 5p deletion syndrome;5p− syndrome;Lejeune''s syndrome 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

75596-7 Fetal 5p deletion risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
Source: Regenstrief LOINC

Part Descriptions

LP185908-3 Fetal 5p deletion risk
5p deletion risk refers to the fetus's risk of having 5p deletion syndrome, also known as Cri-du-chat syndrome. The risk can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. 5p deletion syndrome is caused by the deletion of the short arm of chromosome 5. 5p deletion syndrome is associated with low birth weight, weak muscle tone, cognitive delay and microcephaly. The general population risk of 5p deletion is about 1 in 20,000 - 50,000 live births, and does not change with maternal age. [MedlinePlus Condition: cri-du-chat-syndrome] Source: Regenstrief LOINC, GHR: Cri-du-chat syndrome

Condition for Inclusion

Microdeletion risk analysis requested as part of lab order.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Fetal 5p deletion risk
Property: Imp
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Ord
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet 5p del risk WBC.DNA+cfDNA Ql
Display Name: 5p del risk Dosage of chromosome-specific cfDNA Ql (Plasma cell-free+WBC DNA) [Interp]
Consumer Name Alpha Get Info: Fetal 5p deletion risk

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Example Answer List LL3000-8

Answer	Code	Score	Answer ID
Low risk			LA19542-2
High risk			LA19541-4
Risk unchanged			LA21393-6
Test not performed Copyright http://snomed.info/sct ID:262008008 Not performed (qualifier value)			LA13546-9

Member of these Panels

LOINC	Long Common Name
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de deleción fetal 5p:Impresión / interpretación del estudio:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Ordinal:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de deleción 5p:Impresión/interpretación del estudio:Punto temporal:ADN en plasma libre de células y leucocitos:Ord:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque délétion 5p foetale:Interprétation:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Qualitatif:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Delezione 5p rischio:Imp:Pt:WBC.DNA+Plas.cfDNA:Ord:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: Delezione genetica DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio)
zh-CN	Chinese (China)	胎儿 5p 染色体缺失风险:印象:时间点:白细胞.DNA+血浆.cfDNA:序数型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞依次型;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;顺序型分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;分子病理学试验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;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 5p 染色体缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）综合征风险（危险性、风险性、危险）;染色体 5p 缺失症候群风险;5p 染色体缺失综合征;猫叫综合征;猫叫综合症;猫哭症;猫叫症;5p− 综合征;Lejeune 综合征;勒琼综合征;勒琼氏综合征;Cri du chat syndrome;chromosome 5p deletion syndrome;5p− syndrome;Lejeune''s syndrome 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

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.

75597-5 Comment on fetal 5p deletion risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
Source: Regenstrief LOINC

Part Descriptions

LP185993-5 Comment on fetal 5p deletion risk
5p deletion risk refers to the fetus's risk of having 5p deletion syndrome, also known as Cri-du-chat syndrome. The risk can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. 5p deletion syndrome is caused by the deletion of the short arm of chromosome 5. 5p deletion syndrome is associated with low birth weight, weak muscle tone, cognitive delay and microcephaly. The general population risk of 5p deletion is about 1 in 20,000 - 50,000 live births, and does not change with maternal age. [MedlinePlus Condition: cri-du-chat-syndrome] Source: Regenstrief LOINC, GHR: Cri-du-chat syndrome

LP185993-5 Comment on fetal 5p deletion risk
The genetic counselor's comment regarding risk of a specific disorder or group of disorders is used to convey follow-up recommendations or other information related to the risk result and interpretation. Source: Regenstrief LOINC

Condition for Inclusion

If fetal 5p deletion risk is high, a genetic counselor comment should be included.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Comment on fetal 5p deletion risk
Property: Txt
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Nar
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet 5p del risk comment
Display Name: Comment on fetal 5p del risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal Comment on fetal 5p deletion risk

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Release 2.70: COMPONENT: Removed "Genetic counselor" to broaden use since various specialists may provide comments on test results.; Previous Releases: Added "fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Comentario del consejero genético sobre el riesgo de deleción fetal 5p:Texto:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Narrativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Comentario de consejo genético en riesgo de deleción 5p:Texto:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque délétion 5p foetale (commentaire du conseiller génétique):Texte:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Résultat textuel:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Commento su rischio delezione 5p:Txt:Pt:WBC.DNA+Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: Delezione genetica DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio) Testo
zh-CN	Chinese (China)	关于胎儿 5p 染色体缺失风险的遗传咨询师意见:文本型属性:时间点:白细胞.DNA+血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞关于胎儿 5p 染色体缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）（5p 染色体缺失综合征、染色体 5p 缺失症候群、猫叫综合征、猫叫综合症、猫哭症、猫叫症、5p− 综合征、Lejeune 综合征、勒琼综合征、勒琼氏综合征）风险（危险性、风险性、危险）的遗传咨询师（遗传病辅导员、基因咨询师、遗传谘询师、基因谘询师）意见（评论、解释、注释、注解、点评）;染色体 5p 缺失症候群风险;5p 染色体缺失综合征;猫叫综合征;猫叫综合症;猫哭症;猫叫症;5p− 综合征;Lejeune 综合征;勒琼综合分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;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;文本属性时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 注解特异特异性的特异的短评胎儿 5p 染色体缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）综合征风险（危险性、风险性、危险）;染色体 5p 缺失症候群风险;5p 染色体缺失综合征;猫叫综合征;猫叫综合症;猫哭症;猫叫症;5p− 综合征;Lejeune 综合征;勒琼综合征;勒琼氏综合征;Cri du chat syndrome;chromosome 5p deletion syndrome;5p− syndrome;Lejeune''s syndrome 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA 解说解释评定评注评论评语说明

75580-1 Fetal Prader-Willi syndrome prior risk [Likelihood] based on general population risk

Part Descriptions

LP185907-5 based on general population risk
The risk of having or developing a specific disorder can be calculated by several different methods. One method uses known statistics for the general population as a whole to estimate a single individual's risk. For example, if 30 cases of a certain genetic condition that presents at birth are diagnosed in one year in a geographic area that has 300,000 live births per year, the individual infant's risk of having this condition is approximately 1 in 10,000 live births. Source: Regenstrief LOINC

Condition for Inclusion

Microdeletion risk analysis requested as part of lab order.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Prader-Willi syndrome prior risk
Property: Likelihood
Time: Pt
System: ^Fetus
Scale: Qn
Method: Based on general population risk

Additional Names

Short Name: Fet PWS prior risk from Pop risk
Display Name: Prader-Willi syndrome prior risk based on general population risk Qn (fetus)
Consumer Name Alpha Get Info: Fetal Prader-Willi syndrome prior risk

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo previo del síndrome de Prader-Willi:Probabilidad:Punto temporal:^ Feto:Cuantitativo:basado en el riesgo de la población general
es-ES	Spanish (Spain)	Riesgo previo de síndrome de Prader-Willi:Probabilidad:Punto temporal:^Feto:Qn:Basado en el riesgo de la población general Synonyms: Cuantitativo
fr-FR	French (France)	Risque prédominant syndrome de Prader-Willi:Probabilité:Ponctuel:Concerne le foetus:Numérique:Basé sur le risque pour la population
it-IT	Italian (Italy)	Sindrome di Prader Willi, rischio preesistente:Probabilità:Pt:^feto:Qn:basato sul rischio nella popolazione generale Synonyms: Delezione genetica Patologia molecolare Punto nel tempo (episodio) Rischio preesistente di sindrome di Prader Willi
zh-CN	Chinese (China)	普拉德-威利综合征先验风险:似然性:时间点:^胎儿:定量型:基于一般人群风险的方法 Synonyms: 分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;分子病理学试验可用数量表示的;定量性;数值型;数量型;连续数值型标尺可能性;似然;可能基于一般（普通）人群风险的方法时刻;随机;随意;瞬间普拉德-威利综合征先验风险（事前风险、事先风险）;Prader-Willi 综合征先验风险（危险性、风险性、危险）;小胖威利症候群先验风险;普瑞德威利症候群先验风险;普瑞德威利氏症候群先验风险;普拉德威利症候群先验风险胎;超系统 - 胎儿

Example Units

Unit	Source
{risk}	Example UCUM Units

75581-9 Fetal Prader-Willi syndrome prior risk [Likelihood] based on general population risk Narrative

Part Descriptions

LP185907-5 based on general population risk
The risk of having or developing a specific disorder can be calculated by several different methods. One method uses known statistics for the general population as a whole to estimate a single individual's risk. For example, if 30 cases of a certain genetic condition that presents at birth are diagnosed in one year in a geographic area that has 300,000 live births per year, the individual infant's risk of having this condition is approximately 1 in 10,000 live births. Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component: Prader-Willi syndrome prior risk
Property: Likelihood
Time: Pt
System: ^Fetus
Scale: Nar
Method: Based on general population risk

Additional Names

Short Name: Fet PWS prior risk from Pop risk
Display Name: Prader-Willi syndrome prior risk based on general population risk Nar (fetus)
Consumer Name Alpha Get Info: Fetal Prader-Willi syndrome prior risk

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo previo del síndrome de Prader-Willi:Probabilidad:Punto temporal:^ Feto:Narrativo:basado en el riesgo de la población general
es-ES	Spanish (Spain)	Riesgo previo de síndrome de Prader-Willi:Probabilidad:Punto temporal:^Feto:Narrativo:Basado en el riesgo de la población general
fr-FR	French (France)	Risque prédominant syndrome de Prader-Willi:Probabilité:Ponctuel:Concerne le foetus:Résultat textuel:Basé sur le risque pour la population
it-IT	Italian (Italy)	Sindrome di Prader Willi, rischio preesistente:Probabilità:Pt:^feto:Nar:basato sul rischio nella popolazione generale Synonyms: Delezione genetica Patologia molecolare Punto nel tempo (episodio) Rischio preesistente di sindrome di Prader Willi
zh-CN	Chinese (China)	普拉德-威利综合征先验风险:似然性:时间点:^胎儿:叙述型:基于一般人群风险的方法 Synonyms: 分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;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;文本描述型可能性;似然;可能基于一般（普通）人群风险的方法时刻;随机;随意;瞬间普拉德-威利综合征先验风险（事前风险、事先风险）;Prader-Willi 综合征先验风险（危险性、风险性、危险）;小胖威利症候群先验风险;普瑞德威利症候群先验风险;普瑞德威利氏症候群先验风险;普拉德威利症候群先验风险胎;超系统 - 胎儿

75582-7 Fetal Prader-Willi syndrome risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
Source: Regenstrief LOINC

Part Descriptions

LP185770-7 Fetal Prader-Willi syndrome risk
Prader-Willi syndrome (PWS) risk refers to the fetus's risk of being affected by PWS. The risk for the fetus can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. PWS is caused by the functional loss of several genes on chromosome 15. Normally, only the paternal copy of these genes is active due to genomic imprinting, and in PWS, the paternal copy of these genes is missing. The genetic basis for PWS is the inverse of the basis for Angelman syndrome, in which the maternal copy of a specific gene on chromosome 15 is missing. About 70% of PWS cases are due to the deletion of a portion of the paternal chromosome 15, and another 25% are due to the presence of two maternal chromosome 15 copies (called uniparental disomy, meaning two copies from one parent) instead of one maternal and one paternal.
PWS is associated with different characteristics over time. Infants with PWS have poor growth, developmental delay, and weak muscle tone. Children with PWS develop a compulsion to eat, which leads to obesity and type 2 diabetes mellitus. PWS is associated with mild to moderate cognitive delay, behavior problems, characteristic facial features, and delayed puberty. The general population risk of PWS is about 1 in 10,000 - 30,000 live births, and does not change with maternal age. [MedlinePlus Condition: prader-willi-syndrome] Source: Regenstrief LOINC, GHR: Prader-Willi syndrome

Condition for Inclusion

Microdeletion risk analysis requested as part of lab order.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Fetal Prader-Willi syndrome risk
Property: Likelihood
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Qn
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet PWS risk WBC.DNA+cfDNA Qn
Display Name: Prader-Willi syndrome risk Dosage of chromosome-specific cfDNA Qn (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal Prader-Willi syndrome risk

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de síndrome de Prader-Willi fetal:Probabilidad:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Cuantitativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de síndrome de Prader-Willi:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Qn:Dosificación de ADN ccf de cromosoma específico Synonyms: Cuantitativo
fr-FR	French (France)	Risque foetal du syndrome de Prader-Willi:Probabilité:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Numérique:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Sindrome di Prader Willi, rischio:Probabilità:Pt:WBC.DNA+Plas.cfDNA:Qn:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: Delezione genetica DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di sindrome di Prader Willi
zh-CN	Chinese (China)	胎儿普拉德-威利综合征风险:似然性:时间点:白细胞.DNA+血浆.cfDNA:定量型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;分子病理学试验可用数量表示的;定量性;数值型;数量型;连续数值型标尺可能性;似然;可能时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 Prader-Willi 综合征风险（危险性、风险性、危险）;小胖威利症候群风险;普瑞德威利症候群风险;普瑞德威利氏症候群风险;普拉德威利症候群风险血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

Example Units

Unit	Source
{risk}	Example UCUM Units

75583-5 Fetal Prader-Willi syndrome risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
Source: Regenstrief LOINC

Part Descriptions

LP185770-7 Fetal Prader-Willi syndrome risk
Prader-Willi syndrome (PWS) risk refers to the fetus's risk of being affected by PWS. The risk for the fetus can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. PWS is caused by the functional loss of several genes on chromosome 15. Normally, only the paternal copy of these genes is active due to genomic imprinting, and in PWS, the paternal copy of these genes is missing. The genetic basis for PWS is the inverse of the basis for Angelman syndrome, in which the maternal copy of a specific gene on chromosome 15 is missing. About 70% of PWS cases are due to the deletion of a portion of the paternal chromosome 15, and another 25% are due to the presence of two maternal chromosome 15 copies (called uniparental disomy, meaning two copies from one parent) instead of one maternal and one paternal.
PWS is associated with different characteristics over time. Infants with PWS have poor growth, developmental delay, and weak muscle tone. Children with PWS develop a compulsion to eat, which leads to obesity and type 2 diabetes mellitus. PWS is associated with mild to moderate cognitive delay, behavior problems, characteristic facial features, and delayed puberty. The general population risk of PWS is about 1 in 10,000 - 30,000 live births, and does not change with maternal age. [MedlinePlus Condition: prader-willi-syndrome] Source: Regenstrief LOINC, GHR: Prader-Willi syndrome

Observation Required in Panel

Optional

Fully-Specified Name

Component: Fetal Prader-Willi syndrome risk
Property: Likelihood
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Nar
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet PWS risk WBC.DNA+cfDNA
Display Name: Prader-Willi syndrome risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal Prader-Willi syndrome risk

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de síndrome de Prader-Willi fetal:Probabilidad:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Narrativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de síndrome de Prader-Willi:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque foetal du syndrome de Prader-Willi:Probabilité:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Résultat textuel:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Sindrome di Prader Willi, rischio:Probabilità:Pt:WBC.DNA+Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: Delezione genetica DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di sindrome di Prader Willi
zh-CN	Chinese (China)	胎儿普拉德-威利综合征风险:似然性:时间点:白细胞.DNA+血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;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;文本描述型可能性;似然;可能时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 Prader-Willi 综合征风险（危险性、风险性、危险）;小胖威利症候群风险;普瑞德威利症候群风险;普瑞德威利氏症候群风险;普拉德威利症候群风险血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

75584-3 Fetal Prader-Willi syndrome risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
Source: Regenstrief LOINC

Part Descriptions

LP185770-7 Fetal Prader-Willi syndrome risk
Prader-Willi syndrome (PWS) risk refers to the fetus's risk of being affected by PWS. The risk for the fetus can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. PWS is caused by the functional loss of several genes on chromosome 15. Normally, only the paternal copy of these genes is active due to genomic imprinting, and in PWS, the paternal copy of these genes is missing. The genetic basis for PWS is the inverse of the basis for Angelman syndrome, in which the maternal copy of a specific gene on chromosome 15 is missing. About 70% of PWS cases are due to the deletion of a portion of the paternal chromosome 15, and another 25% are due to the presence of two maternal chromosome 15 copies (called uniparental disomy, meaning two copies from one parent) instead of one maternal and one paternal.
PWS is associated with different characteristics over time. Infants with PWS have poor growth, developmental delay, and weak muscle tone. Children with PWS develop a compulsion to eat, which leads to obesity and type 2 diabetes mellitus. PWS is associated with mild to moderate cognitive delay, behavior problems, characteristic facial features, and delayed puberty. The general population risk of PWS is about 1 in 10,000 - 30,000 live births, and does not change with maternal age. [MedlinePlus Condition: prader-willi-syndrome] Source: Regenstrief LOINC, GHR: Prader-Willi syndrome

Condition for Inclusion

Microdeletion risk analysis requested as part of lab order.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Fetal Prader-Willi syndrome risk
Property: Imp
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Ord
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet PWS risk WBC.DNA+cfDNA Ql
Display Name: Prader-Willi syndrome risk Dosage of chromosome-specific cfDNA Ql (Plasma cell-free+WBC DNA) [Interp]
Consumer Name Alpha Get Info: Fetal Prader-Willi syndrome risk

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Example Answer List LL3000-8

Answer	Code	Score	Answer ID
Low risk			LA19542-2
High risk			LA19541-4
Risk unchanged			LA21393-6
Test not performed Copyright http://snomed.info/sct ID:262008008 Not performed (qualifier value)			LA13546-9

Member of these Panels

LOINC	Long Common Name
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Riesgo de síndrome de Prader-Willi fetal:Impresión / interpretación del estudio:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Ordinal:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Riesgo de síndrome de Prader-Willi:Impresión/interpretación del estudio:Punto temporal:ADN en plasma libre de células y leucocitos:Ord:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque foetal du syndrome de Prader-Willi:Interprétation:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Qualitatif:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Sindrome di Prader Willi, rischio:Imp:Pt:WBC.DNA+Plas.cfDNA:Ord:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: Delezione genetica DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di sindrome di Prader Willi
zh-CN	Chinese (China)	胎儿普拉德-威利综合征风险:印象:时间点:白细胞.DNA+血浆.cfDNA:序数型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞依次型;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;顺序型分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;分子病理学试验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;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 特异特异性的特异的胎儿 Prader-Willi 综合征风险（危险性、风险性、危险）;小胖威利症候群风险;普瑞德威利症候群风险;普瑞德威利氏症候群风险;普拉德威利症候群风险血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA

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75585-0 Comment on fetal Prader-Willi syndrome risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
Source: Regenstrief LOINC

Part Descriptions

LP185992-7 Comment on fetal Prader-Willi syndrome risk
Prader-Willi syndrome (PWS) risk refers to the fetus's risk of being affected by PWS. The risk for the fetus can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. PWS is caused by the functional loss of several genes on chromosome 15. Normally, only the paternal copy of these genes is active due to genomic imprinting, and in PWS, the paternal copy of these genes is missing. The genetic basis for PWS is the inverse of the basis for Angelman syndrome, in which the maternal copy of a specific gene on chromosome 15 is missing. About 70% of PWS cases are due to the deletion of a portion of the paternal chromosome 15, and another 25% are due to the presence of two maternal chromosome 15 copies (called uniparental disomy, meaning two copies from one parent) instead of one maternal and one paternal.
PWS is associated with different characteristics over time. Infants with PWS have poor growth, developmental delay, and weak muscle tone. Children with PWS develop a compulsion to eat, which leads to obesity and type 2 diabetes mellitus. PWS is associated with mild to moderate cognitive delay, behavior problems, characteristic facial features, and delayed puberty. The general population risk of PWS is about 1 in 10,000 - 30,000 live births, and does not change with maternal age. [MedlinePlus Condition: prader-willi-syndrome] Source: Regenstrief LOINC, GHR: Prader-Willi syndrome

LP185992-7 Comment on fetal Prader-Willi syndrome risk
The genetic counselor's comment regarding risk of a specific disorder or group of disorders is used to convey follow-up recommendations or other information related to the risk result and interpretation. Source: Regenstrief LOINC

Condition for Inclusion

If fetal Prader-Willi syndrome risk is high, a genetic counselor comment should be included.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Comment on fetal Prader-Willi syndrome risk
Property: Txt
Time: Pt
System: WBC.DNA+Plas.cfDNA
Scale: Nar
Method: Dosage of chromosome specific cf DNA

Additional Names

Short Name: Fet PWS risk comment
Display Name: Comment on Prader-Willi syndrome risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info: Fetal Comment on prader-Willi syndrome risk

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Release 2.70: COMPONENT: Removed "Genetic counselor" to broaden use since various specialists may provide comments on test results.; Previous Releases: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Comentario del consejero genético sobre el riesgo de síndrome de Prader-Willi fetal:Texto:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Narrativo:Dosis de cfDNA cromosómico específico
es-ES	Spanish (Spain)	Comentario de consejo genético en riesgo de síndrome de Prader-Willis:Texto:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico
fr-FR	French (France)	Risque syndrome de Prader-Willi foetal (commentaire du conseiller génétique):Texte:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Résultat textuel:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT	Italian (Italy)	Commento su rischio sindrome di Prader-Willi:Txt:Pt:WBC.DNA+Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico Synonyms: Delezione genetica DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di sindrome di Prader Willi Testo
zh-CN	Chinese (China)	关于胎儿普拉德-威利综合征风险的遗传咨询师意见:文本型属性:时间点:白细胞.DNA+血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定 Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞关于胎儿普拉德-威利综合征（Prader-Willi 综合征、小胖威利症候群、普瑞德威利症候群、普瑞德威利氏症候群、普拉德威利症候群）风险（危险性、风险性、危险）的遗传咨询师（遗传病辅导员、基因咨询师、遗传谘询师、基因谘询师）意见（评论、解释、注释、注解、点评）分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;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;文本属性时刻;随机;随意;瞬间染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 注解特异特异性的特异的短评胎儿 Prader-Willi 综合征风险（危险性、风险性、危险）;小胖威利症候群风险;普瑞德威利症候群风险;普瑞德威利氏症候群风险;普拉德威利症候群风险血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA 解说解释评定评注评论评语说明

75544-7 Noninvasive prenatal testing overall interpretation Qualitative

Term Description

The overall ordinal interpretation result for noninvasive prenatal testing (NIPT) for detection of chromosomal abnormalities or other prenatal genetic conditions.
Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component: Noninvasive prenatal testing overall interpretation
Property: Imp
Time: Pt
System: ^Fetus
Scale: Ord
Method

Additional Names

Short Name: NIPT overall interpretation Ql
Display Name: Noninvasive prenatal testing overall interpretation Ql (fetus) [Interp]
Consumer Name Alpha Get Info: Noninvasive prenatal testing overall interpretation

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Release 2.71: COMPONENT: Broaden use-case for term to cover any noninvasive prenatal testing.; SYSTEM: Updated to represent the fetus as the subject of the result.;
Order vs. Observation: Observation

Example Answer List LL2353-2

Answer	Code	Score	Answer ID
Low risk			LA19542-2
High risk			LA19541-4

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Interpretación general de la aneuploidía prenatal fetal no invasiva y la microdeleción:Impresión / interpretación del estudio:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Ordinal:
es-ES	Spanish (Spain)	Interpretación general de las pruebas prenatales no invasivas:Impresión/interpretación del estudio:Punto temporal:^Feto:Ord:
fr-FR	French (France)	Tests prénataux non invasifs - Interprétation globale:Interprétation:Ponctuel:Concerne le foetus:Qualitatif:
it-IT	Italian (Italy)	Test prenatale non invasivo, interpretazione generale:Imp:Pt:^feto:Ord: Synonyms: Impressione/interpretazione di studio Interpretazione generale test prenatale non invasivo Patologia molecolare Punto nel tempo (episodio)
nl-NL	Dutch (Netherlands)	niet-invasieve prenatale test commentaar algehele interpretatie:interpretatie:moment:^foetus:ordinaal: Synonyms: NIPT
zh-CN	Chinese (China)	无创性产前检测总体解释:印象:时间点:^胎儿: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;顺序型全面;整体;总体情况分子病理学;分子病理学试验判读;解释说明;说明;释义;阐明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;阐释无创性（无创型、无创、非侵入性）产前检测（检查、化验、测试）总体（整体、宏观、大体、概括）解释（说明、阐释、诠释）时刻;随机;随意;瞬间胎;超系统 - 胎儿

75545-4 Noninvasive prenatal testing comment [Text]

Condition for Inclusion

If overall fetal aneuploidy and microdeletion risk is high, a genetic counselor comment should be included.

Observation Required in Panel

Conditional

Fully-Specified Name

Component: Noninvasive prenatal testing comment
Property: Txt
Time: Pt
System: ^Fetus
Scale: Nar
Method

Additional Names

Short Name: NIPT comment
Display Name: Noninvasive prenatal testing comment Nar (fetus)
Consumer Name Alpha Get Info: Noninvasive prenatal testing comment

Basic Attributes

Class: MOLPATH
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Release 2.71: COMPONENT: Broaden use-case for term to cover any noninvasive prenatal testing.; Release 2.70: COMPONENT: Removed "Genetic counselor" to broaden use since various specialists may provide comments on test results.;
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Comentario del asesor genético sobre el riesgo general de aneuploidía y microdeleción fetal:Texto:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Narrativo:
es-ES	Spanish (Spain)	Comentario del test prenatal no invasivo:Texto:Punto temporal:^Feto:Narrativo:
fr-FR	French (France)	Test prénatal non invasif - Commentaire:Texte:Ponctuel:Concerne le foetus:Résultat textuel:
it-IT	Italian (Italy)	Test prenatale non invasivo, commento:Txt:Pt:^feto:Nar: Synonyms: Commento test prenatale non invasivo Patologia molecolare Punto nel tempo (episodio) Testo
nl-NL	Dutch (Netherlands)	niet-invasieve prenatale test commentaar:tekst:moment:^foetus:tekstueel: Synonyms: NIPT
zh-CN	Chinese (China)	无创性产前检测注释:文本型属性:时间点:^胎儿:叙述型: Synonyms: 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;文本属性无创性（无创型、无创、非侵入性）产前检测（检查、化验、测试）注释（备注、注解、评论说明、意见）时刻;随机;随意;瞬间注解短评胎;超系统 - 胎儿解说解释评定评注评论评语说明

75608-0 Citation [Bibliographic Citation] in Referral lab test Narrative

Part Descriptions

LP72255-0 Citation
Citations include journal articles, textbooks, and other sources that may be cited as a source of information. Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component: Citation
Property: Bib
Time: Pt
System: Referral lab test
Scale: Nar
Method

Additional Names

Short Name: Citation Ref Lab Test
Display Name: Citation Nar (Referral lab test)
Consumer Name Alpha Get Info: Referral Lab Test Citation

Basic Attributes

Class: MISC
Type: Laboratory
First Released: Version 2.50
Last Updated: Version 2.73
Change Reason: Release 2.70: SYSTEM: Updated "Reference" to "Referral" to broaden use and apply to any referral lab, not just reference labs.;
Order vs. Observation: Observation
Common Test Rank Get Info: 6520

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Citación:Cita bibliográfica:Punto temporal:Prueba de laboratorio de referencia:Narrativo:
es-ES	Spanish (Spain)	Citación:Cita bibliográfica:Punto temporal:Prueba de laboratorio de referencia:Narrativo:
fr-FR	French (France)	Citation:Citation bibliographique:Ponctuel:Test de laboratoire de référence:Résultat textuel:
it-IT	Italian (Italy)	Citazione:Bib:Pt:Laboratorio di riferimento, test:Nar: Synonyms: Citazione bibliografica Miscellanea Punto nel tempo (episodio) Test del laboratorio di riferimento
zh-CN	Chinese (China)	引文:文献引用:时间点:受托实验室检验项目:叙述型: Synonyms: 书目引用;文献引文;文献资料出处受托（受委托、转诊目标、转介目标、转诊介绍目标）实验室（检验中心、实验中心）检验项目（实验室检验项目、实验项目、化验项目、检测项目、实验室检测、检验、化验、检测）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;文本描述型引用文献;参考文献时刻;随机;随意;瞬间杂项;杂项类;杂项试验

68989-3 Performing laboratory [Address]

Term Description

Term would be especially important to users of HL7 v2.x (where x<5.1) for carrying information that v2.5a carries in a dedicated field (OBX-24)
Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component: Performing laboratory
Property: Addr
Time: Pt
System: Facility
Scale: Nom
Method

Additional Names

Short Name: Performing lab Addr
Display Name: Performing laboratory Nom (Facility)
Consumer Name Alpha Get Info: Performing laboratory, Facility

Basic Attributes

Class: MISC
Type: Laboratory
First Released: Version 2.38
Last Updated: Version 2.73
Order vs. Observation: Observation

HL7^® Attributes

HL7^® Field ID: OBX-24

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Realización de laboratorio:Dirección (tipo de datos HL7):Punto temporal:Instalaciones:Nominal:
es-ES	Spanish (Spain)	Realización del labloratorio:Dirección:Punto temporal:Facilidad:Nom:
it-IT	Italian (Italy)	Laboratorio che esegue il test:Addr:Pt:Struttura:Nom: Synonyms: Indirizzo (HL7 data type) Miscellanea Punto nel tempo (episodio)
nl-NL	Dutch (Netherlands)	uitvoerend laboratorium:adres (HL7-datatype):moment:faciliteit:nominaal:
pl-PL	Polish (Poland)	Laboratorium wykonujące:adres w standardzie HL7:punkt w czasie:identyfikacja odbiorcy:cecha:
ru-RU	Russian (Russian Federation)	Исполняющая лаборатория:Адр:ТчкВрм:Учреждение:Ном: Synonyms: Адрес (HL7 data type) Лаборатория, выполняющая анализ Номинальный;Именной Точка во времени;Момент
tr-TR	Turkish (Turkey)	Uygulayan laboratuvar/Testi çalışan laboratuvar:Adr:Zmlı:Tesis:Snf:
zh-CN	Chinese (China)	执行实验室: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;瞬间杂项;杂项类;杂项试验检验科;化验室;化验科

75549-6 Performing laboratory phone number

Observation Required in Panel

Required

Fully-Specified Name

Component: Performing laboratory phone number
Property: Tele
Time: Pt
System: Facility
Scale: Nom
Method

Additional Names

Short Name: Performing lab phone #
Display Name: Performing laboratory phone Nom (Facility)

Basic Attributes

Class: ADMIN.FACILITY
Type: Clinical
First Released: Version 2.50
Last Updated: Version 2.73
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
96978-2	Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0	Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4	Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Realizar el número de teléfono del laboratorio:NúmeroTeléfono:Punto temporal:Instalaciones:Nominal:
es-ES	Spanish (Spain)	Teléfono del laboratorio:Teléfono:Punto temporal:Facilidad:Nom: Synonyms: Número de teléfono (datos de HL7)
it-IT	Italian (Italy)	Laboratorio che esegue il test, recapito telefonico:Tele:Pt:Struttura:Nom: Synonyms: Amministrativo Numero di telefono (HL7 datatype) Punto nel tempo (episodio) Recapito telefonico del laboratorio che esegue il test Struttura
tr-TR	Turkish (Turkey)	Uygulayan laboratuvar telefonu:Tel:Zmlı:Tesis:Snf:
zh-CN	Chinese (China)	执行方实验室电话号码: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执行（完成、负责、开展、履行）方实验室（科室、部门、化验室、检验室、研究室、试验室）电话号码电话号码（电话号、电话号码、电话、联系电话、工作电话）;执行实验室电话号码无线电通讯号码;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;瞬间检验科;化验室;化验科电话行政;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）

75547-0

Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Active

43993-5 Age at delivery

Observation Required in Panel

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18185-9 Gestational age

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75607-2 Paternal sample received Qualitative

Part Descriptions

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Example Answer List LL361-7

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Third Party Copyright

75605-6 Cell-free DNA.fetal/Cell-free DNA.total in Plasma cell-free DNA by Dosage of chromosome-specific cfDNA

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75606-4 Cell-free DNA.fetal/Cell-free DNA.total in Plasma cell-free DNA by Dosage of chromosome-specific cfDNA Narrative

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75604-9 Fetal sex in Cell-free+Maternal WBC DNA by Dosage of chromosome specific circulating cell free (ccf) DNA

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Condition for Inclusion

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Example Answer List LL2903-4

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75560-3 Fetal Trisomy 21 prior risk [Likelihood] Based on maternal age

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75562-9 Fetal Trisomy 21 prior risk [Likelihood] Based on maternal age Narrative

Part Descriptions

Observation Required in Panel