Version 2.78

62301-7 Lysosomal storage disorders newborn screen interpretation

Part Descriptions

LP111174-1   Lysosomal storage disorders
Lysosomal storage diseases (LSDs) are a group of approximately 40 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomal storage diseases result when a specific organelle in the body's cells - the lysosome - malfunctions.

Tay-Sachs disease was the first of these disorders to be described, followed by Gaucher disease.

Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar containing proteins) or so-called mucopolysaccharides. Individually, LSDs occur with incidences of less than 1:100.000, however, as a group the incidence is about 1:5000 - 1:10.000. Most of these disorders are autosomal recessively inherited, however a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome (MPS II). Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Wikipedia

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Lysosomal storage disorders
Property
Imp
Time
Pt
System
Bld.dot
Scale
Nom
Method

Additional Names

Short Name
LSD DBS-Imp
Display Name
Lysosomal storage disorders (DBS) [Interp]
Consumer Name Alpha Get Info
Lysosomal storage disorders, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.71
Change Reason
Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation
Observation

Preferred Answer List LL840-0

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

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
105458-4 Lysosomal and peroxisomal storage disorders panel - DBS
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Trastornos de almacenamiento lisosomal:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX Spanish (Mexico) Trastornos por almacenamiento lisosómico:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR French (France) Maladie lysosomiales:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE French (Belgium) Lysosomes.Maladie stockage.:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT Italian (Italy) Disturbo da accumulo lisosomiale:Imp:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) lysosomale stapelingsziekte:interpretatie:moment:gedroogde bloedspot:nominaal:
pt-BR Portuguese (Brazil) Doenças de depósito lisossômico::Pt:SgPapel:Nom:
ru-RU Russian (Russian Federation) Лизосомальные болезни накопления:Впчт:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR Turkish (Turkey) Lizozomal depo bozukluğu:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (China) 溶酶体贮积症:印象:时间点:全血.斑点:名义型:
Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 溶酶体累积病;lysosomal storage diseases;溶酶体贮积病;溶酶体储积疾病;Lysosomal storage disorders 血;血液

62303-3 Lysosomal storage disorders newborn screening comment-discussion

Part Descriptions

LP111174-1   Lysosomal storage disorders
Lysosomal storage diseases (LSDs) are a group of approximately 40 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomal storage diseases result when a specific organelle in the body's cells - the lysosome - malfunctions.

Tay-Sachs disease was the first of these disorders to be described, followed by Gaucher disease.

Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar containing proteins) or so-called mucopolysaccharides. Individually, LSDs occur with incidences of less than 1:100.000, however, as a group the incidence is about 1:5000 - 1:10.000. Most of these disorders are autosomal recessively inherited, however a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome (MPS II). Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Wikipedia

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Lysosomal storage disorders newborn screening comment-discussion
Property
Txt
Time
Pt
System
Bld.dot
Scale
Nar
Method

Additional Names

Short Name
LSD NBS comment
Display Name
Lysosomal storage disorders newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info
Lysosomal storage disorders newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.42
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Trastornos de almacenamiento lisosomal screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX Spanish (Mexico) Trastornos por almacenamiento lisosómico cribado neonatal comentario / discusión:Texto:Punto temporal:DBS:Narrativo:
fr-FR French (France) Maladie lysosomiales dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE French (Belgium) Lysosomes.Maladie stockage. Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT Italian (Italy) Disturbo da accumulo lisosomiale, screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar:
Synonyms: Chimica Commento-discussione di screening neonatale per disturbo da accumulo lisosomiale Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL Dutch (Netherlands) lysosomale stapelingsziekte screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
pt-BR Portuguese (Brazil) Doenças de depósito lisossômico triagem neonatal comentários-discussão::Pt:SgPapel:Nar:
ru-RU Russian (Russian Federation) Лизосомальные болезни накопления новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис:
Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR Turkish (Turkey) Lizozomal depo bozukluğu yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN Chinese (China) 溶酶体贮积症 新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型:
Synonyms: Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 备注 备注;评论;注解;说明;评语 意见 文本;文本型;文本属性 新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论 无症状 无症状（Asymptomatic，Asympt） 无症状的 无症状筛查 时刻;随机;随意;瞬间 普查 普查试验 注解 溶酶体累积病;lysosomal storage diseases;溶酶体贮积病;溶酶体储积疾病;Lysosomal storage disorders 溶酶体贮积症新生儿筛查注释/讨论 短评 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 血;血液 解说 解释 评定 评注 评论 评语 说明

62302-5 Lysosomal storage disorders suspected [Identifier] in DBS

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Lysosomal storage disorders suspected
Property
Prid
Time
Pt
System
Bld.dot
Scale
Nom
Method

Additional Names

Short Name
LSD suspected DBS
Display Name
Lysosomal storage disorders suspected Nom (DBS)
Consumer Name Alpha Get Info
Lysosomal storage disorders suspected, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.61
Change Reason
Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation
Observation

Preferred Answer List LL1043-0

Answer Code Score Answer ID
Fabry disease Copyright http://snomed.info/sct ID:16652001 Fabry's disease (disorder) LA14036-0
Pompe disease Copyright http://snomed.info/sct ID:274864009 Glycogen storage disease due to acid maltase deficiency (disorder) LA14037-8
Krabbe disease Copyright http://snomed.info/sct ID:192782005 Galactosylceramide beta-galactosidase deficiency (disorder) LA14038-6
Niemann Pick disease A/B Copyright http://snomed.info/sct ID:58459009 Sphingomyelin/cholesterol lipidosis (disorder) LA14040-2
Gaucher disease Copyright http://snomed.info/sct ID:190794006 Glucosylceramide beta-glucosidase deficiency (disorder) LA14039-4
Mucopolysaccharidosis type I Copyright http://snomed.info/sct ID:75610003 Mucopolysaccharidosis type I (disorder) LA25797-4
Mucopolysaccharidosis type II (disorder) LA34470-7

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Sospecha de trastornos de almacenamiento lisosomal:Presencia o identidad:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX Spanish (Mexico) Se sospecha de trastornos por almacenamiento lisosómico:Presencia o identidad:Punto temporal:DBS:Nominal:
fr-FR French (France) Maladie lysosomiales suspectées:Identification:Ponctuel:Sang buvard:Résultat nominal:
fr-BE French (Belgium) Lysosomes.Suspicion Maladie stockage.:Présence ou identité:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT Italian (Italy) Disturbo da accumulo lisosomiale sospetto:Prid:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) lysosomale stapelingsziekte verdenking:identificator:moment:gedroogde bloedspot:nominaal:
pt-BR Portuguese (Brazil) Suspeita de Doenças de depósito lisossômico:Ident:Pt:SgPapel:Nom:
ru-RU Russian (Russian Federation) Лизосомальные болезни накопления предполагаемые:ПрИд:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Кровь Кровь сухая капля Номинальный;Именной Присутствие или Идентификация Точка во времени;Момент
tr-TR Turkish (Turkey) Lizozomal depo bozukluğu şüpheli:MevcKimlik:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (China) 所怀疑的溶酶体贮积症:存在与否或特征标识:时间点:全血.斑点:名义型:
Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 存在;存在与否;特征标识;身份;身份标识 所怀疑的（已怀疑的、疑似）溶酶体贮积症（溶酶体贮积病、溶酶体储积疾病、溶酶体储存障碍、溶酶体蓄积病、溶酶体堆积病）;溶酶体贮积症;溶酶体累积病;lysosomal storage diseases;溶酶体贮积病;溶酶体储积疾病;Lysosomal storage disorders 时刻;随机;随意;瞬间 溶酶体累积病;lysosomal storage diseases;溶酶体贮积病;溶酶体储积疾病;Lysosomal storage disorders 血;血液

104189-6 Mucopolysaccharidosis type II newborn screen interpretation newborn screen interpretation

Fully-Specified Name

Component
Mucopolysaccharidosis type II newborn screen interpretation
Property
Imp
Time
Pt
System
Bld.dot
Scale
Nom
Method

Additional Names

Short Name
Mucopolysaccharidosis II DBS-Imp
Display Name
Mucopolysaccharidosis type II newborn screen interpretation (DBS) [Interp]
Consumer Name Alpha Get Info
Mucopolysaccharidosis type II newborn screen interpretation, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.77
Last Updated
Version 2.77
Order vs. Observation
Order

Example Answer List LL835-0

Answer Code Score Answer ID
None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) LA137-2
Hearing loss Copyright http://snomed.info/sct ID:15188001 Hearing loss (disorder) HEAR LA24366-9
2-Methyl-3-hydroxybutyric aciduria Copyright http://snomed.info/sct ID:791000124107 2-methyl-3-hydroxybutyric aciduria (disorder) 2M3HBA LA12464-6
2-Methylbutyrylglycinuria Copyright http://snomed.info/sct ID:445596006 2-methylbutyrylglycinuria (disorder) 2MBG LA12465-3
3-Methylcrotonyl-CoA carboxylase deficiency Copyright http://snomed.info/sct ID:13144005 Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) 3-MCC LA12466-1
3-Methylcrotonyl-CoA carboxylase deficiency (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) 3-MCC (mat) LA12467-9
3-Methylglutaconic aciduria Copyright http://snomed.info/sct ID:237950009 3-Methylglutaconic aciduria (disorder) 3MGA LA12468-7
Pyroglutamic acidemia Copyright http://snomed.info/sct ID:39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder) 5-OXO LA12469-5
Argininemia ARG LA21161-7
Argininosuccinic aciduria ASA LA21162-5
Biopterin defect in cofactor biosynthesis Copyright http://snomed.info/sct ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) BIOPT-BS LA12472-9
Biopterin defect in cofactor regeneration Copyright http://snomed.info/sct ID:58256000 Dihydropteridine reductase deficiency (disorder) BIOPT-REG LA12473-7
Beta-ketothiolase deficiency Copyright http://snomed.info/sct ID:237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) BKT LA12474-5
Carnitine acylcarnitine translocase deficiency Copyright http://snomed.info/sct ID:238003000 Carnitine acylcarnitine translocase deficiency (disorder) CACT LA12475-2
Cobalamin A disease Copyright http://snomed.info/sct ID:73843004 Cobalamin A disease (disorder) CBL A LA12476-0
Cobalamin B disease Copyright http://snomed.info/sct ID:82245003 Cobalamin B disease (disorder) CBL B LA12477-8
Cobalamin C disease Copyright http://snomed.info/sct ID:74653006 Cobalamin C disease (disorder) CBL C LA12478-6
Cobalamin D disease Copyright http://snomed.info/sct ID:31220004 Cobalamin D disease (disorder) CBL D LA12479-4
Cobalamin E disease Copyright http://snomed.info/sct ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder) CBL E LA12480-2
CBL G type Methylcobalamin deficiency Copyright http://snomed.info/sct ID:721187005 Methylcobalamin deficiency type cbl G (disorder) CBL G LA12481-0
Citrullinemia, type I Copyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder) CIT-I LA12482-8
Citrullinemia, type II Copyright http://snomed.info/sct ID:716863007 Citrullinemia type II (disorder) CIT-II LA12483-6
Carbamoyl-phosphate synthase deficiency Copyright http://snomed.info/sct ID:62522004 Congenital hyperammonemia, type I (disorder) CPS LA12484-4
Carnitine palmitoyltransferase type I deficiency Copyright http://snomed.info/sct ID:238001003 Carnitine palmitoyltransferase I deficiency (disorder) CPT-Ia LA12485-1
Carnitine palmitoyltransferase type II deficiency Copyright http://snomed.info/sct ID:238002005 Carnitine palmitoyltransferase II deficiency (disorder) CPT-II LA12486-9
Carnitine uptake deficiency/carnitine transport defect Copyright http://snomed.info/sct ID:21764004 Renal carnitine transport defect (disorder) CUD LA12487-7
Carnitine uptake deficiency/carnitine transport defect (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) CUD (mat) LA12488-5
2,4-Dienoyl-CoA reductase deficiency Copyright http://snomed.info/sct ID:444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder) De-Red LA12489-3
Dihydrolipoamide dehydrogenase deficiency Copyright http://snomed.info/sct ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder) E3 LA12490-1
Ethylmalonic encephalopathy Copyright http://snomed.info/sct ID:723307008 Ethylmalonic encephalopathy (disorder) EMA LA12491-9
Formiminoglutamic acidemia Copyright http://snomed.info/sct ID:59761008 Glutamate formiminotransferase deficiency (disorder) FIGLU LA12492-7
Glutaric acidemia type I Copyright http://snomed.info/sct ID:76175005 Glutaric aciduria, type 1 (disorder) GA-1 LA12493-5
Glutaric acidemia (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) GA-1 (mat) LA12494-3
Glutaric acidemia type II Copyright http://snomed.info/sct ID:22886006 Glutaric aciduria, type 2 (disorder) GA-2 LA12495-0
Homocystinuria Copyright http://snomed.info/sct ID:11282001 Homocystinuria (disorder) HCY LA12496-8
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Copyright http://snomed.info/sct ID:30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) HHH LA12497-6
Histidinemia Copyright http://snomed.info/sct ID:410058007 Histidinemia (disorder) HIS LA12498-4
3-Hydroxy-3-methylglutaric aciduria Copyright http://snomed.info/sct ID:410059004 Hydroxymethylglutaric aciduria (disorder) HMG LA12499-2
Hyperphenylalaninemia (variant, benign) Copyright http://snomed.info/sct ID:68528007 Hyperphenylalaninemia (disorder) H-PHE LA12500-7
Hyperlysinemia Copyright http://snomed.info/sct ID:58558003 Hyperlysinemia (disorder) Hyper LYS LA12501-5
Girate atrophy of the retina Copyright http://snomed.info/sct ID:314467007 Gyrate atrophy (disorder) Hyper ORN LA12502-3
Valinemia Copyright http://snomed.info/sct ID:47719001 Hypervalinemia (disorder) Hyper VAL LA12503-1
Isobutyrylglycinuria Copyright http://snomed.info/sct ID:445571008 Isobutyrylglycinuria (disorder) IBG LA12504-9
Isovaleric acidemia Copyright http://snomed.info/sct ID:87827003 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) IVA LA12505-6
Primary lactic acidemia Copyright http://snomed.info/sct ID:190882007 Lactic acidemia (disorder) LACTIC LA12506-4
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:307127004 Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder) LCHAD LA12507-2
Malonic acidemia Copyright http://snomed.info/sct ID:124594007 Deficiency of malonyl-coenzyme A decarboxylase (disorder) MAL LA12508-0
Medium-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) MCAD LA12509-8
Holoocarboxylase synthase deficiency Copyright http://snomed.info/sct ID:360369003 Holocarboxylase synthase deficiency (disorder) MCD LA12510-6
Medium-chain ketoacyl-CoA thiolase deficiency Copyright http://snomed.info/sct ID:124265004 Deficiency of acetyl-coenzyme A acyltransferase (disorder) MCKAT LA12511-4
Hypermethioninemia Copyright http://snomed.info/sct ID:43123004 Hypermethioninemia (disorder) MET LA12512-2
Maple syrup urine disease Copyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder) MSUD LA21168-2
Methylene tetrahydrofolate reductase deficiency Copyright http://snomed.info/sct ID:41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) MTHFR LA12514-8
Methylmalonic acidemia Copyright http://snomed.info/sct ID:124680001 Deficiency of methylmalonyl-coenzyme A mutase (disorder) MUT LA12515-5
Nonketotic hyperglycinemia (glycine encephalopathy) Copyright http://snomed.info/sct ID:237939006 Non-ketotic hyperglycinemia (disorder) NKHG LA12516-3
Hydroxyprolinemia Copyright http://snomed.info/sct ID:25739007 Hyperhydroxyprolinemia (disorder) OH PRO LA12517-1
Ornithine transcarbamylase deficiency Copyright http://snomed.info/sct ID:80908008 Ornithine carbamoyltransferase deficiency (disorder) OTC LA12518-9
Pyruvate carboxylase deficiency Copyright http://snomed.info/sct ID:87694001 Pyruvate carboxylase deficiency (disorder) PC LA12519-7
Classic phenylketonuria Copyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder) PKU LA12520-5
Hyperprolinemia type I Copyright http://snomed.info/sct ID:61071003 Proline dehydrogenase deficiency (disorder) PRO I LA12521-3
Hyperprolinemia type II Copyright http://snomed.info/sct ID:717181004 Hyperprolinemia type 2 (disorder) PRO II LA12522-1
Propionic acidemia Copyright http://snomed.info/sct ID:69080001 Propionic acidemia (disorder) PROP LA12523-9
Short-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:124166007 Deficiency of butyryl-CoA dehydrogenase (disorder) SCAD LA12524-7
Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237998000 Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) SCHAD LA12525-4
Succinyl-CoA ligase deficiency Copyright http://snomed.info/sct ID:445275003 Deficiency of succinate-coenzyme A ligase (disorder) SUCLA2 LA12526-2
Trifunctional protein deficiency Copyright http://snomed.info/sct ID:237999008 Mitochondrial trifunctional protein deficiency (disorder) TFP LA12527-0
Tyrosinemia, type I Copyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder) TYR-I LA12528-8
Tyrosinemia, type II Copyright http://snomed.info/sct ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder) TYR-II LA12529-6
Tyrosinemia, type III Copyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder) TYR-III LA12530-4
Very long-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237997005 Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) VLCAD LA12531-2
Biotinidase deficiency Copyright http://snomed.info/sct ID:8808004 Biotinidase deficiency (disorder) BIO LA12532-0
Congenital adrenal hyperplasia Copyright http://snomed.info/sct ID:237751000 Congenital adrenal hyperplasia (disorder) CAH LA12533-8
Cystic fibrosis Copyright http://snomed.info/sct ID:190905008 Cystic fibrosis (disorder) CF LA22202-8
Primary congenital hypothyroidism Copyright http://snomed.info/sct ID:190268003 Congenital hypothyroidism (disorder) CH LA12538-7
Secondary congenital hypothyroidism Copyright http://snomed.info/sct ID:82598004 Secondary hypothyroidism (disorder) CH2 LA12539-5
Glucose-6-phosphate dehydrogenase deficiency Copyright http://snomed.info/sct ID:124134002 Deficiency of glucose-6-phosphate dehydrogenase (disorder) G6PD LA12540-3
Galactoepimerase deficiency Copyright http://snomed.info/sct ID:8849004 Uridine diphosphate glucose-4-epimerase deficiency (disorder) GALE LA12541-1
Galactokinase deficiency Copyright http://snomed.info/sct ID:124302001 Deficiency of galactokinase (disorder) GALT LA12542-9
Classical galactosemia LA21165-8
Hb C-carrier Copyright http://snomed.info/sct ID:76050008 Hemoglobin C trait (disorder) LA12602-1
Hb D-carrier Copyright http://snomed.info/sct ID:7391009 Hemoglobin D trait (disorder) LA12603-9
Hb E-carrier Copyright http://snomed.info/sct ID:46248003 Hemoglobin E trait (disorder) LA12604-7
Hb O-Arab carrier LA12605-4
Hb S (sickle)-carrier Copyright http://snomed.info/sct ID:16402000 Sickle cell trait (disorder) LA12606-2
Hb C-disease Copyright http://snomed.info/sct ID:51053007 Hemoglobin C disease (disorder) LA12607-0
Hb C beta-thalassemia Copyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder) LA12608-8
Hb D-disease LA12609-6
Hb D beta-thalassemia Copyright http://snomed.info/sct ID:119701000119106 Hemoglobin D/beta thalassemia disease (disorder) LA12610-4
Hb beta zero-thalassemia Copyright http://snomed.info/sct ID:86715000 Beta zero thalassemia (disorder) LA12611-2
Hb E-disease Copyright http://snomed.info/sct ID:25065001 Hemoglobin E disease (disorder) LA12612-0
Hb E beta-thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder) LA12613-8
Hb SS-disease (sickle cell anemia) Copyright http://snomed.info/sct ID:127040003 Sickle cell-hemoglobin SS disease (disorder) LA12614-6
Hb S beta-thalassemia Copyright http://snomed.info/sct ID:127041004 Sickle cell-beta-thalassemia (disorder) LA12615-3
Hb SC-disease Copyright http://snomed.info/sct ID:35434009 Sickle cell-hemoglobin C disease (disorder) LA12616-1
Hb SD-disease Copyright http://snomed.info/sct ID:25472008 Sickle cell-hemoglobin D disease (disorder) LA12617-9
Hb SE-disease Copyright http://snomed.info/sct ID:47024008 Sickle cell-hemoglobin E disease (disorder) LA12618-7
Hb S O-Arab disease Copyright http://snomed.info/sct ID:127048005 Sickle cell-Hemoglobin O Arab disease (disorder) LA12619-5
Hb S plus Hb other than A,C,D,E,O-Arab disease Copyright http://snomed.info/sct ID:23269001 Double heterozygous sickling disorder (disorder) LA12620-3
Hb disease other than A, C, D, E, H,O-Arab, S Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) LA12621-1
Hb carrier other than C, D, E, S ,O-Arab LA12622-9
Congenital HIV Copyright http://snomed.info/sct ID:52079000 Congenital human immunodeficiency virus infection (disorder) HIV LA12565-0
Severe combined immunodeficiency Copyright http://snomed.info/sct ID:31323000 Severe combined immunodeficiency disease (disorder) SCID LA12566-8
Thyroid-binding globulin deficiency Copyright http://snomed.info/sct ID:237544006 Thyroid-binding globulin deficiency (disorder) TBG LA12567-6
Congenital toxoplasmosis Copyright http://snomed.info/sct ID:73893000 Congenital toxoplasmosis (disorder) TOXO LA12568-4
CIT-I or CIT-II or ASA LA12569-2
HCY or MET or CBL C LA12570-0
PKU or BIPT-BS or BIOPT-REG or H-PHE LA12571-8
TYR-1 or TYR-II or TYR-III LA12572-6
CPT-II or CACT LA12573-4
LCHAD or TFP LA12574-2
MCAD or SCAD or GA-2(MADD) LA12575-9
SCAD or EMA or IBG or GA-2 (MADD) LA12576-7
2M3HBA or BKT-2 LA12577-5
IVA or 2MBG or GA-2 or EMA LA12578-3
PROP or CBL A or CBL B or MUT or CBL C or MCD LA12579-1
3-MCC or 3-MCC (mat) or 3MGA or BKT or HMG or MCD or BIO LA12915-7
CUD or CUD (mat) or CPT-Ia LA12916-5
GA-1 or GA-2 LA12917-3
Fabry disease Copyright http://snomed.info/sct ID:16652001 Fabry's disease (disorder) GLA LA14036-0
Pompe disease Copyright http://snomed.info/sct ID:274864009 Glycogen storage disease due to acid maltase deficiency (disorder) GAA LA14037-8
Krabbe disease Copyright http://snomed.info/sct ID:192782005 Galactosylceramide beta-galactosidase deficiency (disorder) GALC LA14038-6
Gaucher disease Copyright http://snomed.info/sct ID:190794006 Glucosylceramide beta-glucosidase deficiency (disorder) GBA LA14039-4
Niemann Pick disease A/B Copyright http://snomed.info/sct ID:58459009 Sphingomyelin/cholesterol lipidosis (disorder) ASM LA14040-2
Hb H-disease Copyright http://snomed.info/sct ID:48553001 Hemoglobin H disease (disorder) LA16007-9
Hemoglobinopathies Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) LA16207-5
Critical congenital heart disease CCHD LA20349-9
X-linked adrenoleukodystrophy Copyright http://snomed.info/sct ID:65389002 Adrenoleukodystrophy (disorder) X-ALD LA25796-6
Mucopolysaccharidosis type I Copyright http://snomed.info/sct ID:75610003 Mucopolysaccharidosis type I (disorder) MPS-I LA25797-4
Guanidinoacetate N-methyltransferase deficiency Copyright http://snomed.info/sct ID:124239003 Deficiency of guanidinoacetate methyltransferase (disorder) GAMT LA30113-7
L-arginine:glycine amidinotransferase deficiency Copyright http://snomed.info/sct ID:702440000 Cerebral creatine deficiency syndrome 3 (disorder) AGAT LA30114-5
X-linked creatine transporter (CRTR) deficiency Copyright http://snomed.info/sct ID:698290008 X-linked creatine deficiency (disorder) CRTR LA30492-5
Spinal muscular atrophy Copyright http://snomed.info/sct ID:5262007 Spinal muscular atrophy (disorder) SMA LA22279-6
Deficiency of guanidinoacetate methyltransferase (disorder) LA34469-9
Mucopolysaccharidosis type II (disorder) LA34470-7

Member of these Panels

LOINC Long Common Name
104188-8 Mucopolysaccharidosis type II newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Interpretación del cribado de mucopolisacaridosis tipo II en recién nacidos:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
it-IT Italian (Italy) Mucopolisaccaridosi di tipo II,interpretazione screening neonatale:Imp:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Impressione/interpretazione di studio Interpretazione screening neonatale di mucopolisaccaridosi di tipo II Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) screening van pasgeborene op mucopolysacharidose type 2 interpretatie:interpretatie:moment:gedroogde bloedspot:nominaal:
Synonyms: MPS MPS 2; syndroom van Hunter; sulfoïduronaatsulfatasedeficiëntie soort

62304-1 Fabry disease newborn screening panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Fabry disease newborn screening panel
Property
-
Time
Pt
System
Bld.dot
Scale
-
Method

Additional Names

Short Name
Fabry disease NBS pnl DBS
Display Name
Fabry disease NBS panel (DBS)
Consumer Name Alpha Get Info
Fabry Disease NBS Panel, Dried blood spot

Basic Attributes

Class
PANEL.CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.77
Order vs. Observation
Order
Panel Type
Panel

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Cribado de enfermedad de Fabry en recién nacido:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX Spanish (Mexico) Panel de cribado neonatal de la enfermedad de Fabry:-:Punto temporal:DBS:-:
fr-FR French (France) Maladie de Fabry dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT Italian (Italy) Malattia di Fabry, panel screening neonatale:-:Pt:Sangue.su carta da filtro:-:
Synonyms: Chimica Panel screening neonatale Panel screening neonatale per malattia di Fabry Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL Dutch (Netherlands) ziekte van Fabry pasgeborene screeningspanel:-:moment:gedroogde bloedspot:-:
pt-BR Portuguese (Brazil) Doença de Fabry painel de triagem neonatal::Pt:SgPapel:-:
ru-RU Russian (Russian Federation) Фабри болезнь новорожденных скрининг панель:-:ТчкВрм:Кр.Сух.капл:-:
Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN Chinese (China) 法布里病新生儿筛查组套:-:时间点:全血.斑点:-:
Synonyms: Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套 无症状 无症状（Asymptomatic，Asympt） 无症状的 无症状筛查 时刻;随机;随意;瞬间 普查 普查试验 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 法布莱病;Fabry 病 法布里病新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;法布里病新生儿筛查组合;法布莱病新生儿筛查医嘱组;Fabry 病新生儿筛查医嘱组 疾 病 症 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 组 组合 组合医嘱 组合类 组套 血;血液

62305-8 Fabry disease newborn screen interpretation

Observation Required in Panel

Required

Fully-Specified Name

Component
Fabry disease
Property
Imp
Time
Pt
System
Bld.dot
Scale
Nom
Method

Additional Names

Short Name
Fabry disease DBS-Imp
Display Name
Fabry disease (DBS) [Interp]
Consumer Name Alpha Get Info
Fabry disease, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.56
Change Reason
Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation
Observation

Preferred Answer List LL840-0

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

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Enfemedad de Fabry:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX Spanish (Mexico) Enfermedad de Fabry:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-CA French (Canada) Maladie de Fabry:Impression:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-FR French (France) Maladie de Fabry:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE French (Belgium) Maladie de Fabry:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT Italian (Italy) Malattia di Fabry:Imp:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) ziekte van Fabry:interpretatie:moment:gedroogde bloedspot:nominaal:
pt-BR Portuguese (Brazil) Doença de Fabry::Pt:SgPapel:Nom:
ru-RU Russian (Russian Federation) Фабри болезнь:Впчт:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR Turkish (Turkey) Fabry hastalığı:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (China) 法布里病:印象:时间点:全血.斑点:名义型:
Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 法布莱病;Fabry 病 疾 病 症 血;血液

62306-6 Fabry disease newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

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

Additional Names

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

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.42
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Enfemedad de Fabry screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX Spanish (Mexico) Comentario-discusión sobre la detección del recién nacido de la enfermedad de Fabry:Texto:Punto temporal:DBS:Narrativo:
fr-FR French (France) Maladie de Fabry dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE French (Belgium) Maladie de Fabry Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT Italian (Italy) Malattia di Fabry, screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar:
Synonyms: Chimica Commento-discussione di screening neonatale per malattia di Fabry Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL Dutch (Netherlands) ziekte van Fabry screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
pt-BR Portuguese (Brazil) Doença de Fabry triagem neonatal comentários-discussão::Pt:SgPapel:Nar:
ru-RU Russian (Russian Federation) Фабри болезнь новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис:
Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR Turkish (Turkey) Fabry hastalığı yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN Chinese (China) 法布里病 新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型:
Synonyms: Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 备注 备注;评论;注解;说明;评语 意见 文本;文本型;文本属性 新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论 无症状 无症状（Asymptomatic，Asympt） 无症状的 无症状筛查 时刻;随机;随意;瞬间 普查 普查试验 法布莱病;Fabry 病 法布里病新生儿筛查注释/讨论 注解 疾 病 症 短评 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 血;血液 解说 解释 评定 评注 评论 评语 说明

55908-8 Alpha galactosidase A [Enzymatic activity/volume] in DBS

Term Description

This is a newborn screening test to detect enzymatic activity in dried blood spot to screen for Fabry disease, which is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin called angiokeratomas; decreased sweating (hypohidrosis); corneal opacity; and hearing loss. Fabry disease can also involve potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. This disorder is caused by mutations in the GLA gene; it has an X-linked pattern of inheritance.
Source: Regenstrief LOINC

Part Descriptions

LP14012-6   Alpha galactosidase A
Alpha (A) galactosidase is an enzyme used in sphingolipid metabolism. The deficiency of the enzyme leads to accumulation of various products that may lead to Fabry's disease, which is lysosomal storage disorder. Source: Regenstrief Institute

Reference Information

Type Source Reference
Article National Library of Medicine Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Alpha galactosidase A
Property
CCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
A-Galactosidase A DBS-cCnc
Display Name
Alpha galactosidase A (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info
Alpha Galactosidase A, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.70
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
105458-4 Lysosomal and peroxisomal storage disorders panel - DBS
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: Alpha-Galaktosidase /BT
es-ES Spanish (Spain) Alfa galactosidasa A:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Alfa galactosidasa A:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
et-EE Estonian (Estonia) Alfagalaktosidaas:CCnc:Pt:Vereplekk:Qn:
Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA French (Canada) Alpha galactosidase A:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR French (France) Alpha galactosidase A:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE French (Belgium) Alpha galactosidase A:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT Italian (Italy) Alfa galattosidasi A:CCnC:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) alfa-galactosidase A:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR Portuguese (Brazil) Alfa galactosidase:#N/A:Pt:SgPapel:Qn:
Synonyms: ; A-Galactosidase; Morquio disease type B; MPS IV B; GM1-gangliosidosis; Alpha-D-galactosidase; Alpha galactosidase A; Catalytic Concentration; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Alfa; Chemistry
ru-RU Russian (Russian Federation) Альфа галактозидаза A:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR Turkish (Turkey) Alfa galaktozidaz A:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) Alpha 半乳糖苷酶:催化浓度:时间点:全血.斑点:定量型:
Synonyms: A 型 A-D-半乳糖苷酶;A-D-半乳糖苷酶 A;Alpha 半乳糖苷酶 A;Alpha-D-半乳糖苷酶;Alpha-D-半乳糖苷酶 A;Alpha-半乳糖苷酶;Alpha-半乳糖苷酶 A;A-半乳糖苷酶;A-半乳糖苷酶 A;GM1-神经节苷脂沉积症;GM1-神经节苷脂贮积病;Morquio 氏病 B 型;Morquio 病 B 型;MPS IV B;α-D-半乳糖苷酶;α-D-半乳糖苷酶 A;α半乳糖苷酶;α-半乳糖苷酶;α半乳糖苷酶 A;α-半乳糖苷酶 A;半乳糖苷酶病;半乳糖苷酶缺乏病 α 催化浓度(单位体积);单位体积内酶的单位数 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 血;血液 阿尔法

Example Units

Unit Source
umol/L/h Example UCUM Units

62307-4 Krabbe disease newborn screening panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Krabbe disease newborn screening panel
Property
-
Time
Pt
System
Bld.dot
Scale
-
Method

Additional Names

Short Name
Krabbe disease NBS pnl DBS
Display Name
Krabbe disease NBS panel (DBS)
Consumer Name Alpha Get Info
Krabbe Disease NBS Panel, Dried blood spot

Basic Attributes

Class
PANEL.CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.77
Order vs. Observation
Order
Panel Type
Panel

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Cribado de enfermedad de Krabbe en recién nacido:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX Spanish (Mexico) Panel de detección de recién nacidos con enfermedad de Krabbe:-:Punto temporal:DBS:-:
fr-FR French (France) Maladie de Krabbe dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT Italian (Italy) Malattia di Krabbe, panel screening neonatale:-:Pt:Sangue.su carta da filtro:-:
Synonyms: Chimica Panel screening neonatale Panel screening neonatale per malattia di Krabbe Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL Dutch (Netherlands) ziekte van Krabbe pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
pt-BR Portuguese (Brazil) Doença de Krabbe painel de triagem neonatal::Pt:SgPapel:-:
ru-RU Russian (Russian Federation) Краббе болезнь новорожденных скрининг панель:-:ТчкВрм:Кр.Сух.капл:-:
Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN Chinese (China) 遗传性脑白质萎缩新生儿筛查组套:-:时间点:全血.斑点:-:
Synonyms: Asympt SCN 克拉伯病;Krabbe 病 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套 无症状 无症状（Asymptomatic，Asympt） 无症状的 无症状筛查 时刻;随机;随意;瞬间 普查 普查试验 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 疾 病 症 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 组 组合 组合医嘱 组合类 组套 血;血液 遗传性脑白质萎缩新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;遗传性脑白质萎缩新生儿筛查组合; 克拉伯病新生儿筛查医嘱组;Krabbe 病新生儿筛查医嘱组

62308-2 Krabbe disease newborn screen interpretation

Observation Required in Panel

Required

Fully-Specified Name

Component
Krabbe disease
Property
Imp
Time
Pt
System
Bld.dot
Scale
Nom
Method

Additional Names

Short Name
Krabbe disease DBS-Imp
Display Name
Krabbe disease (DBS) [Interp]
Consumer Name Alpha Get Info
Krabbe disease, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.56
Change Reason
Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation
Observation

Preferred Answer List LL840-0

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

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Enfermedad de Krabbe:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX Spanish (Mexico) Enfermedad de Krabbe:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-CA French (Canada) Maladie de Krabbe:Impression:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-FR French (France) Maladie de Krabbe:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE French (Belgium) Maladie de Krabbe:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT Italian (Italy) Malattia di Krabbe:Imp:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) ziekte van Krabbe:interpretatie:moment:gedroogde bloedspot:nominaal:
pt-BR Portuguese (Brazil) Doença de Krabbe::Pt:SgPapel:Nom:
ru-RU Russian (Russian Federation) Краббе болезнь:Впчт:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR Turkish (Turkey) Krabbe hastalığı:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (China) 遗传性脑白质萎缩:印象:时间点:全血.斑点:名义型:
Synonyms: 克拉伯病;Krabbe 病 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 疾 病 症 血;血液

62309-0 Krabbe disease newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

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

Additional Names

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

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.42
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Enfermedad de Krabbe screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX Spanish (Mexico) Comentario-discusión sobre la detección del recién nacido de la enfermedad de Krabbe:Texto:Punto temporal:DBS:Narrativo:
fr-FR French (France) Maladie de Krabbe dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE French (Belgium) Maladie de Krabbe Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT Italian (Italy) Malattia di Krabbe, screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar:
Synonyms: Chimica Commento-discussione di screening neonatale per malattia di Krabbe Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL Dutch (Netherlands) ziekte van Krabbe screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
pt-BR Portuguese (Brazil) Doença de Krabbe triagem neonatal comentários-discussão::Pt:SgPapel:Nar:
ru-RU Russian (Russian Federation) Краббе болезнь новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис:
Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR Turkish (Turkey) Krabbe hastalığı yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN Chinese (China) 遗传性脑白质萎缩 新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型:
Synonyms: Asympt SCN 克拉伯病;Krabbe 病 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 备注 备注;评论;注解;说明;评语 意见 文本;文本型;文本属性 新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论 无症状 无症状（Asymptomatic，Asympt） 无症状的 无症状筛查 时刻;随机;随意;瞬间 普查 普查试验 注解 疾 病 症 短评 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 血;血液 解说 解释 评定 评注 评论 评语 说明 遗传性脑白质萎缩新生儿筛查注释/讨论

62310-8 Galactosylceramidase [Enzymatic activity/volume] in DBS

Part Descriptions

LP14027-4   Galactosylceramidase
An enzyme that hydrolyzes galactose from ceramide monohexosides. Deficiency of this enzyme may cause globoid cell leukodystrophy (LEUKODYSTROPHY, GLOBOID CELL). EC 3.2.1.46. Source: National Library of Medicine, MeSH 2006

Reference Information

Type Source Reference
Article National Library of Medicine Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Galactosylceramidase
Property
CCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
GALC DBS-cCnc
Display Name
Galactosylceramidase (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info
Galactosylceramidase, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.61
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
105458-4 Lysosomal and peroxisomal storage disorders panel - DBS
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Galactosilceramidasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Galactosilceramidasa:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
et-EE Estonian (Estonia) Galaktosüülkeramidaas:CCnc:Pt:Vereplekk:Qn:
Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA French (Canada) Galactosylcéramidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR French (France) Galactosylcéramidase:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE French (Belgium) Galactosylcéramidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT Italian (Italy) Galattosilceramidasi:CCnC:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) galactosylceramidase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR Portuguese (Brazil) Galactocerebrosidase::Pt:SgPapel:Qn:
ru-RU Russian (Russian Federation) Галактозилцерамидаза:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR Turkish (Turkey) Galaktozilseramidaz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) 半乳糖苷神经酰胺酶:催化浓度:时间点:全血.斑点:定量型:
Synonyms: Beta-半乳糖脑苷沉积症;Krabbe 氏病;Krabbe 白质营养不良;Krabbe 脑白质病变;Krabbe 脑白质营养不良;β-半乳糖脑苷沉积症;克拉勃脑白质营养不良;半乳培脑苷脂累积病;半乳糖脑苷脂酶;球样细胞脑白质营养不良;脑白质营养不良 催化浓度(单位体积);单位体积内酶的单位数 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 血;血液

Example Units

Unit Source
umol/L/h Example UCUM Units

62311-6 Gaucher disease newborn screening panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Gaucher disease newborn screening panel
Property
-
Time
Pt
System
Bld.dot
Scale
-
Method

Additional Names

Short Name
Gaucher disease NBS pnl DBS
Display Name
Gaucher disease NBS panel (DBS)
Consumer Name Alpha Get Info
Gaucher Disease NBS Panel, Dried blood spot

Basic Attributes

Class
PANEL.CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.77
Order vs. Observation
Order
Panel Type
Panel

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Cribado de enfermedad de Gaucher recién nacido:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX Spanish (Mexico) Panel de cribado neonatal de la enfermedad de Gaucher:-:Punto temporal:DBS:-:
fr-FR French (France) Maladie de Gaucher dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT Italian (Italy) Malattia di Gaucher, panel screening neonatale:-:Pt:Sangue.su carta da filtro:-:
Synonyms: Chimica Panel screening neonatale Panel screening neonatale per malattia di Gaucher Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL Dutch (Netherlands) ziekte van Gaucher pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
pt-BR Portuguese (Brazil) Doença de Gaucher painel de triagem neonatal::Pt:SgPapel:-:
ru-RU Russian (Russian Federation) Гоше болезнь новорожденных скрининг панель:-:ТчкВрм:Кр.Сух.капл:-:
Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN Chinese (China) 戈谢病新生儿筛查组套:-:时间点:全血.斑点:-:
Synonyms: Asympt Gaucher 病;高雪病;Gaucher disease;GD SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 戈谢病新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;戈谢病新生儿筛查组合;Gaucher 病新生儿筛查医嘱组;高雪病新生儿筛查医嘱组 新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套 无症状 无症状（Asymptomatic，Asympt） 无症状的 无症状筛查 时刻;随机;随意;瞬间 普查 普查试验 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 疾 病 症 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 组 组合 组合医嘱 组合类 组套 血;血液

62312-4 Gaucher disease newborn screen interpretation

Observation Required in Panel

Required

Fully-Specified Name

Component
Gaucher disease
Property
Imp
Time
Pt
System
Bld.dot
Scale
Nom
Method

Additional Names

Short Name
Gaucher disease DBS-Imp
Display Name
Gaucher disease (DBS) [Interp]
Consumer Name Alpha Get Info
Gaucher disease, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.56
Change Reason
Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation
Observation

Preferred Answer List LL840-0

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

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Enfermedad de Gaucher:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX Spanish (Mexico) Enfermedad de Gaucher:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR French (France) Maladie de Gaucher:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
it-IT Italian (Italy) Malattia di Gaucher:Imp:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) ziekte van Gaucher:interpretatie:moment:gedroogde bloedspot:nominaal:
pt-BR Portuguese (Brazil) Doença de Gaucher::Pt:SgPapel:Nom:
ru-RU Russian (Russian Federation) Гоше болезнь:Впчт:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR Turkish (Turkey) Gaucher hastalığı:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (China) 戈谢病:印象:时间点:全血.斑点:名义型:
Synonyms: Gaucher 病;高雪病;Gaucher disease;GD 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 疾 病 症 血;血液

62313-2 Gaucher disease newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

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

Additional Names

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

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.42
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Enfermedad de Gaucher screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX Spanish (Mexico) Comentario-discusión sobre la detección del recién nacido de la enfermedad de Gaucher:Texto:Punto temporal:DBS:Narrativo:
fr-FR French (France) Maladie de Gaucher dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
it-IT Italian (Italy) Malattia di Gaucher, screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar:
Synonyms: Chimica Commento-discussione di screening neonatale per malattia di Gaucher Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL Dutch (Netherlands) ziekte van Gaucher screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
pt-BR Portuguese (Brazil) Doença de Gaucher triagem neonatal comentários-discussão::Pt:SgPapel:Nar:
ru-RU Russian (Russian Federation) Гоше болезнь новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис:
Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR Turkish (Turkey) Gaucher hastalığı yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN Chinese (China) 戈谢病 新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型:
Synonyms: Asympt Gaucher 病;高雪病;Gaucher disease;GD SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 备注 备注;评论;注解;说明;评语 意见 戈谢病新生儿筛查注释/讨论 文本;文本型;文本属性 新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论 无症状 无症状（Asymptomatic，Asympt） 无症状的 无症状筛查 时刻;随机;随意;瞬间 普查 普查试验 注解 疾 病 症 短评 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 血;血液 解说 解释 评定 评注 评论 评语 说明

55917-9 Glucosylceramidase [Enzymatic activity/volume] in DBS

Part Descriptions

LP15604-9   Glucosylceramidase
A glycosidase that hydrolyzes a glucosylceramide to yield free ceramide plus glucose. Deficiency of this enzyme leads to abnormally high concentrations of glucosylceramide in the brain in GAUCHER DISEASE. EC 3.2.1.45. Source: National Library of Medicine, MeSH 2006

Reference Information

Type Source Reference
Article National Library of Medicine Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Glucosylceramidase
Property
CCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
Glucosylceramidase DBS-cCnc
Display Name
Glucosylceramidase (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info
Glucosylceramidase, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.70
Change Reason
Updated Component from "Acid beta glucosidase" per the recommended nomenclature [UniProt: P04062]
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
105458-4 Lysosomal and peroxisomal storage disorders panel - DBS
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
de-DE German (Germany) Beta-Glucosidase:Katalytische Konzentration:Zeitpunkt:Blut.Tropfen:Quantitativ:
es-ES Spanish (Spain) Glucosilceramidasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Glucosilceramidasa:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
et-EE Estonian (Estonia) Glükosüülkeramidaas:CCnc:Pt:Vereplekk:Qn:
Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA French (Canada) Glucosylcéramidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR French (France) Glucosylcéramidase:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE French (Belgium) Glucosylcéramidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT Italian (Italy) Glucosilceramidasi:CCnC:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) glucosylceramidase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pl-PL Polish (Poland) Ceramidaza glukozylowa:stężenie katalityczne:punkt w czasie:sucha kropla krwi:ilościowy:
Synonyms: Ceramidaza glukozylowa
pt-BR Portuguese (Brazil) Beta glucosidase:#N/A:Pt:SgPapel:Qn:
Synonyms: Glucoinvertase; Glucosidosucrase; Maltase; Maltase-glucoamylase; B-Glucosidase; Gaucher disease; Glucocerebrosidase; Catalytic Concentration; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; B; Chemistry
ru-RU Russian (Russian Federation) Глюкозилцерамидаза:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR Turkish (Turkey) Glukozilseramidaz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) 葡糖神经酰胺酶:催化浓度:时间点:全血.斑点:定量型:
Synonyms: Beta 葡糖脑苷脂酶;Beta-葡糖脑苷脂酶;B-葡糖脑苷脂酶;β-葡糖脑苷脂酶;葡糖基神经酰胺酶;葡糖基苷酰鞘氨醇酶;葡萄糖基神经酰胺酶 催化浓度(单位体积);单位体积内酶的单位数 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 血;血液

Example Units

Unit Source
umol/L/h Example UCUM Units

79563-3 Mucopolysaccharidosis type I newborn screening panel

Term Description

The Mucopolysaccharidosis type I (MPS I) newborn screening panel is used to report the results of newborn screening for the diagnosis of MPS I, also known as Hurler syndrome, an inherited disorder in which the body is unable to produce an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). MPS I is caused by mutations in the IDUA gene and has an autosomal recessive pattern of inheritance.
Source: Regenstrief LOINC

Fully-Specified Name

Component
Mucopolysaccharidosis type I newborn screening panel
Property
-
Time
Pt
System
Bld.dot
Scale
-
Method

Additional Names

Short Name
MPS I NBS Pnl DBS
Display Name
Mucopolysaccharidosis type I NBS panel (DBS)
Consumer Name Alpha Get Info
Mucopolysaccharidosis Type I NBS Panel, Dried blood spot

Basic Attributes

Class
PANEL.CHEM
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.77
Order vs. Observation
Order
Panel Type
Panel

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Panel de cribado neonatal Mucopolisacaridosis tipo I:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX Spanish (Mexico) Panel de cribado neonatal de mucopolisacaridosis tipo I:-:Punto temporal:DBS:-:
fr-FR French (France) Mucopolysaccharidoses type I dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT Italian (Italy) Mucopolisaccaridosi tipologia 1 screening neonatale, panel:-:Pt:Sangue.su carta da filtro:-:
Synonyms: Chimica Panel Mucopolisaccaridosi tipologia 1 screening ne Panel screening neonatale Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL Dutch (Netherlands) mucopolysaccharidose type I pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
Synonyms: MPS soort
zh-CN Chinese (China) 粘多糖贮积症 I 型新生儿筛查组套:-:时间点:全血.斑点:-:
Synonyms: Asympt I 型 SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 型 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套 无症状 无症状（Asymptomatic，Asympt） 无症状的 无症状筛查 时刻;随机;随意;瞬间 普查 普查试验 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 粘多糖病 I 型;黏多糖病 I 型;黏多糖贮积症 I 型;粘多糖沉积病 I 型;黏多糖沉积病 I 型;MPS-I;MPSⅠ 粘多糖病 I 型;黏多糖病 I 型;黏多糖贮积症 I 型;粘多糖沉积病 I 型;黏多糖沉积病 I 型;MPS-I;MPSⅠ新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目） 组 组合 组合医嘱 组合类 组套 血;血液

55909-6 Alpha-L-iduronidase [Enzymatic activity/volume] in DBS

Part Descriptions

LP14016-7   Alpha-L-iduronidase
Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), Hurler's disease or gargoylism, is a genetic disorder that results in the buildup of mucopolysaccharides due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of mucopolysaccharides in lysosomes. Without this enzyme, a buildup of heparan sulfate and dermatan sulfate occurs in the body. Symptoms appear during childhood and early death can occur due to organ damage. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Alpha-L iduronidase

Fully-Specified Name

Component
Alpha-L-iduronidase
Property
CCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
A-L-Iduronidase DBS-cCnc
Display Name
Alpha-L-iduronidase (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info
Alpha-L-iduronidase, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.70
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
105458-4 Lysosomal and peroxisomal storage disorders panel - DBS
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: Alpha-Iduronidase /BT
es-ES Spanish (Spain) Alfa-L-iduronidasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Alfa-L-iduronidasa:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
et-EE Estonian (Estonia) Alfa-L-iduronidaas:CCnc:Pt:Vereplekk:Qn:
Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA French (Canada) Alpha-L-iduronidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR French (France) Alpha L-idurodinase:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE French (Belgium) Alpha-L-iduronidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT Italian (Italy) Alfa-L-iduronidasi:CCnC:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) alfa-L-iduronidase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR Portuguese (Brazil) Alfa-L-iduronidase:#N/A:Pt:SgPapel:Qn:
Synonyms: ; A-L-Iduronidase; Hurler disease; Scheie disease; Catalytic Concentration; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Left; Alfa; Chemistry
ru-RU Russian (Russian Federation) Альфа-L-идуронидазы:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR Turkish (Turkey) Alfa-L-iduronidaz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) Alpha-L-艾杜糖苷酶:催化浓度:时间点:全血.斑点:定量型:
Synonyms: Alpha-L-艾杜糖醛酸苷酶;A-L-艾杜糖苷酶;A-L-艾杜糖醛酸苷酶;Hurler 氏病;Hurler 病;I 型粘多糖贮积病;Scheie 氏病;Scheie 病;α-L-艾杜糖苷酶;α-L-艾杜糖醛酸苷酶;α-L-艾牡糖醛酸酶;粘多糖代谢病 1 型;粘多糖代谢病 I 型;粘多糖第一型 S 分型（Scheie 症候群）;粘多糖贮积症 1 型;粘多糖贮积症 I 型 α 催化浓度(单位体积);单位体积内酶的单位数 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 左 左侧 左侧（Left，L） 时刻;随机;随意;瞬间 血;血液 阿尔法

Example Units

Unit Source
umol/h/L Example UCUM Units

79564-1 Mucopolysaccharidosis type I newborn screen interpretation

Term Description

This observation indicates whether the newborn screen was in-range or out-of-range for the analytes related to Mucopolysaccharidosis type I (MPS I).
Source: Regenstrief LOINC

Part Descriptions

LP203226-8   Mucopolysaccharidosis type I
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types. Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme. The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS I, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[MedlinePlus Condition: mucopolysaccharidosis-type-i] Source: Genetic Home Reference, National Library of Medicine

Fully-Specified Name

Component
Mucopolysaccharidosis type I
Property
Imp
Time
Pt
System
Bld.dot
Scale
Nom
Method

Additional Names

Short Name
MPS I DBS-Imp
Display Name
Mucopolysaccharidosis type I (DBS) [Interp]
Consumer Name Alpha Get Info
Mucopolysaccharidosis Type I, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.54
Order vs. Observation
Observation

Preferred Answer List LL840-0

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

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Mucopolisacaridosis tipo I:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX Spanish (Mexico) Mucopolisacaridosis tipo I:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR French (France) Mucopolysaccharidose type 1:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
it-IT Italian (Italy) Mucopolisaccaridosi tipologia 1:Imp:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) mucopolysaccharidose type I:interpretatie:moment:gedroogde bloedspot:nominaal:
Synonyms: MPS soort
tr-TR Turkish (Turkey) Mukopolisakkaridozis tip I:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (China) 粘多糖贮积症 I 型:印象:时间点:全血.斑点:名义型:
Synonyms: I 型 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 型 时刻;随机;随意;瞬间 粘多糖病 I 型;黏多糖病 I 型;黏多糖贮积症 I 型;粘多糖沉积病 I 型;黏多糖沉积病 I 型;MPS-I;MPSⅠ 血;血液

79565-8 Mucopolysaccharidosis type I newborn screening comment-discussion

Part Descriptions

LP203226-8   Mucopolysaccharidosis type I
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types. Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme. The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS I, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[MedlinePlus Condition: mucopolysaccharidosis-type-i] Source: Genetic Home Reference, National Library of Medicine

Fully-Specified Name

Component
Mucopolysaccharidosis type I newborn screening comment-discussion
Property
Txt
Time
Pt
System
Bld.dot
Scale
Nar
Method

Additional Names

Short Name
MPS I NBS comment
Display Name
Mucopolysaccharidosis type I newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info
Mucopolysaccharidosis Type I newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.54
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Mucopolisacaridosis tipo I screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX Spanish (Mexico) Mucopolisacaridosis tipo I cribado neonatal comentario-discusión:Texto:Punto temporal:DBS:Narrativo:
fr-FR French (France) Mucopolysaccharidose type 1 dépistage nouveau né commentaire-discussion:Texte:Ponctuel:Sang buvard:Résultat textuel:
it-IT Italian (Italy) Mucopolisaccaridosi tipologia 1, screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar:
Synonyms: Chimica Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL Dutch (Netherlands) mucopolysaccharidose type I screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
Synonyms: MPS soort
tr-TR Turkish (Turkey) Mukopolisakkaridozis tip I yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN Chinese (China) 粘多糖贮积症 I 型 新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型:
Synonyms: Asympt I 型 SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 型 备注 备注;评论;注解;说明;评语 意见 文本;文本型;文本属性 新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论 无症状 无症状（Asymptomatic，Asympt） 无症状的 无症状筛查 时刻;随机;随意;瞬间 普查 普查试验 注解 短评 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 粘多糖病 I 型;黏多糖病 I 型;黏多糖贮积症 I 型;粘多糖沉积病 I 型;黏多糖沉积病 I 型;MPS-I;MPSⅠ 血;血液 解说 解释 评定 评注 评论 评语 说明

62315-7 Niemann Pick disease A/B newborn screening panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Niemann Pick disease A+B newborn screening panel
Property
-
Time
Pt
System
Bld.dot
Scale
-
Method

Additional Names

Short Name
Niemann Pick disease A/B NBS pnl DBS
Display Name
Niemann Pick disease A/B NBS panel (DBS)
Consumer Name Alpha Get Info
Niemann Pick Disease A/B NBS Panel, Dried blood spot

Basic Attributes

Class
PANEL.CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.77
Order vs. Observation
Order
Panel Type
Panel

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Cribado de enfermedad de Niemann Pick A+B en recién nacido:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX Spanish (Mexico) Panel de cribado neonatal de enfermedad de Niemann Pick A + B:-:Punto temporal:DBS:-:
fr-FR French (France) Maladie de Niemann Pick A+B dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT Italian (Italy) Malattia di Niemann Pick A+B, panel screening neonatale:-:Pt:Sangue.su carta da filtro:-:
Synonyms: Chimica Malattia di Niemann Pick A/B Panel screening neonatale Panel screening neonatale per malattia di Niemann Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL Dutch (Netherlands) ziekte van Niemann Pick A+B pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
pt-BR Portuguese (Brazil) Doença de Niemann Pick A+B painel de triagem neonatal::Pt:SgPapel:-:
ru-RU Russian (Russian Federation) Ниманн-Пик болезнь A+B новорождённый скрининг панель:-:ТчкВрм:Кр.Сух.капл:-:
Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN Chinese (China) 尼曼-匹克病 A+B 新生儿筛查组套:-:时间点:全血.斑点:-:
Synonyms: A 型 A,B 型;AB 型 Asympt B 型 Niemann Pick 病 A+B;Niemann-Pick 病 A+B SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 尼曼-匹克病 A+B 新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;尼曼-匹克病 A+B 新生儿筛查组合;Niemann Pick 病 A+B 新生儿筛查医嘱组;Niemann-Pick 病 A+B 新生儿筛查医嘱组 新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套 无症状 无症状（Asymptomatic，Asympt） 无症状的 无症状筛查 时刻;随机;随意;瞬间 普查 普查试验 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 疾 病 症 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 组 组合 组合医嘱 组合类 组套 血;血液

62318-1 Niemann Pick disease A/B newborn screen interpretation

Observation Required in Panel

Required

Fully-Specified Name

Component
Niemann Pick disease A+B
Property
Imp
Time
Pt
System
Bld.dot
Scale
Nom
Method

Additional Names

Short Name
Niemann Pick disease A/B DBS-Imp
Display Name
Niemann Pick disease A/B (DBS) [Interp]
Consumer Name Alpha Get Info
Niemann pick disease a/B, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.56
Change Reason
Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation
Observation

Preferred Answer List LL840-0

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

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Enfermedad de Niemann-Pick A+B:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX Spanish (Mexico) Enfermedad de Niemann Pick A + B:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-CA French (Canada) Maladie de Niemann Pick A+B:Impression:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-FR French (France) Maladie de Niemann Pick A+B:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE French (Belgium) Maladie de Niemann Pick A+B:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT Italian (Italy) Malattia di Niemann Pick A+B:Imp:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Impressione/interpretazione di studio Malattia di Niemann Pick A/B Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) ziekte van Niemann Pick A+B:interpretatie:moment:gedroogde bloedspot:nominaal:
ru-RU Russian (Russian Federation) Ниманна-Пика болезнь A+B:Впчт:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR Turkish (Turkey) Niemann Pick hastalığı A+B:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (China) 尼曼-匹克病 A+B:印象:时间点:全血.斑点:名义型:
Synonyms: A 型 A,B 型;AB 型 B 型 Niemann Pick 病 A+B;Niemann-Pick 病 A+B 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 疾 病 症 血;血液

62319-9 Niemann Pick disease A/B newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Niemann Pick disease A+B newborn screening comment-discussion
Property
Txt
Time
Pt
System
Bld.dot
Scale
Nar
Method

Additional Names

Short Name
Niemann Pick disease A/B NBS comment
Display Name
Niemann Pick disease A/B newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info
Niemann pick disease a/B newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.42
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Enfermedad de Niemann-Pick A+B screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX Spanish (Mexico) Discusión de comentario sobre detección neonatal A + B de enfermedad de Niemann Pick:Texto:Punto temporal:DBS:Narrativo:
fr-FR French (France) Maladie de Niemann Pick A+B dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE French (Belgium) Maladie de Niemann Pick A+B Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT Italian (Italy) Malattia di Niemann Pick A+B, screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar:
Synonyms: Chimica Commento-discussione di screening neonatale per malattia di Niemann Pick A/B Malattia di Niemann Pick A/B Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL Dutch (Netherlands) ziekte van Niemann Pick A+B screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
ru-RU Russian (Russian Federation) Ниманна-Пика болезнь A+B новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис:
Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR Turkish (Turkey) Niemann Pick hastalığı A+B yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN Chinese (China) 尼曼-匹克病 A+B 新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型:
Synonyms: A 型 A,B 型;AB 型 Asympt B 型 Niemann Pick 病 A+B;Niemann-Pick 病 A+B SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 备注 备注;评论;注解;说明;评语 尼曼-匹克病 A+B 新生儿筛查注释/讨论 意见 文本;文本型;文本属性 新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论 无症状 无症状（Asymptomatic，Asympt） 无症状的 无症状筛查 时刻;随机;随意;瞬间 普查 普查试验 注解 疾 病 症 短评 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 血;血液 解说 解释 评定 评注 评论 评语 说明

62316-5 Acid sphingomyelinase [Enzymatic activity/volume] in DBS

Part Descriptions

LP14035-7   Acid sphingomyelinase
Sphingomyelin phosphodiesterase or simply Sphingomyelinase (SMase) is a hydrolase enzyme that is involved in sphingolipid metabolism reactions. SMase is a member of the DNase I superfamily of enzymes and is responsible for breaking sphingomyelin (SM) down into phosphocholine and ceramide. The activation of SMase has been suggested as a major route for the production of ceramide in response to cellular stresses. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Wikipedia

Reference Information

Type Source Reference
Article National Library of Medicine Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Acid sphingomyelinase
Property
CCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
Acid sphingomyelinase DBS-cCnc
Display Name
Acid sphingomyelinase (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info
Acid sphingomyelinase, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.61
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
105458-4 Lysosomal and peroxisomal storage disorders panel - DBS
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: Sphingomyelinase /BT
es-ES Spanish (Spain) Esfingomielinasa ácida:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Esfingomielinasa ácida:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
et-EE Estonian (Estonia) Sfingomüelinaas:CCnc:Pt:Vereplekk:Qn:
Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA French (Canada) Acide sphingomyélinase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR French (France) Sphingomyélinase acide:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE French (Belgium) Sphingomyélinase acide:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT Italian (Italy) Sfingomielinasi acida:CCnC:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) zure sfingomyelinase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR Portuguese (Brazil) Ácido esfingomielinase::Pt:SgPapel:Qn:
ru-RU Russian (Russian Federation) Кислая сфингомиелиназа:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR Turkish (Turkey) Asit sfingomiyelinaz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) 神经磷脂酶:催化浓度:时间点:全血.斑点:定量型:
Synonyms: A 型和 B 型 Niemann-Pick 病;A 型和 B 型尼曼-匹克病;Niemann-Pick 氏症;Niemann-Pick 病;Niemann-Pick 病 A 型和 B 型;尼曼-匹克病;尼曼-匹克病 A 型和 B 型;尼曼匹克症;神经鞘磷脂磷酸二酯酶;鞘磷脂磷酸二酯酶;鞘磷脂酶;鞘髓磷脂储积症 催化浓度(单位体积);单位体积内酶的单位数 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 血;血液 酸

Example Units

Unit Source
umol/L/h Example UCUM Units

63414-7 Pompe disease newborn screening panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Pompe disease newborn screening panel
Property
-
Time
Pt
System
Bld.dot
Scale
-
Method

Additional Names

Short Name
Pompe disease NBS pnl DBS
Display Name
Pompe disease NBS panel (DBS)
Consumer Name Alpha Get Info
Pompe Disease NBS Panel, Dried blood spot

Basic Attributes

Class
PANEL.CHEM
Type
Laboratory
First Released
Version 2.36
Last Updated
Version 2.77
Order vs. Observation
Order
Panel Type
Panel

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Panel screening de la enfermedad de Pompe en recien nacidos:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX Spanish (Mexico) Panel de cribado neonatal de la enfermedad de Pompe:-:Punto temporal:DBS:-:
fr-FR French (France) Maladie de Pompe dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT Italian (Italy) Morbo di Pompe, panel screening neonatale:-:Pt:Sangue.su carta da filtro:-:
Synonyms: Chimica Panel screening neonatale Panel screening neonatale per morbo di Pompe Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL Dutch (Netherlands) ziekte van Pompe pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
ru-RU Russian (Russian Federation) Помпе болезнь новорожденных скрининг панель:-:ТчкВрм:Кр.Сух.капл:-:
Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN Chinese (China) 庞贝病新生儿筛查组套:-:时间点:全血.斑点:-:
Synonyms: Ⅱ型糖原累积病;glycogen storage disease typeⅡ;GSDⅡ;酸性麦芽糖酶缺乏症;Pompe病;属于常染色体隐性遗传性疾病,是由于酸性α-糖苷酶的缺乏,导致溶酶体内的糖原分解障碍并大量贮积而致病 Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 庞贝病新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;庞贝病新生儿筛查组合;II型糖原累积病新生儿筛查医嘱组;酸性麦芽糖酶缺乏症新生儿筛查医嘱组;Pompe 病新生儿筛查医嘱组;Ⅱ型糖原累积病;glycogen storage disease typeⅡ;GSDⅡ;酸性麦芽糖酶缺乏症;Pompe病;庞贝病;属于常染色体隐性遗传性疾病,是由于酸性α-糖苷酶的缺乏,导致溶酶体内的糖原分解障碍并大量贮积而致病 新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套 无症状 无症状（Asymptomatic，Asympt） 无症状的 无症状筛查 时刻;随机;随意;瞬间 普查 普查试验 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 疾 病 症 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 组 组合 组合医嘱 组合类 组套 血;血液

63415-4 Pompe disease newborn screen interpretation

Observation Required in Panel

Required

Fully-Specified Name

Component
Pompe disease
Property
Imp
Time
Pt
System
Bld.dot
Scale
Nom
Method

Additional Names

Short Name
Pompe disease DBS-Imp
Display Name
Pompe disease (DBS) [Interp]
Consumer Name Alpha Get Info
Pompe disease, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.36
Last Updated
Version 2.56
Change Reason
Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation
Observation

Preferred Answer List LL840-0

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

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Enfermedad de Pompe:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX Spanish (Mexico) Enfermedad de Pompe:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR French (France) Maladie de Pompe:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
it-IT Italian (Italy) Morbo di Pompe:Imp:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) ziekte van Pompe:interpretatie:moment:gedroogde bloedspot:nominaal:
ru-RU Russian (Russian Federation) Помпе болезнь:Впчт:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR Turkish (Turkey) Pompe hastalığı:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (China) 庞贝病:印象:时间点:全血.斑点:名义型:
Synonyms: Ⅱ型糖原累积病;glycogen storage disease typeⅡ;GSDⅡ;酸性麦芽糖酶缺乏症;Pompe病;属于常染色体隐性遗传性疾病,是由于酸性α-糖苷酶的缺乏,导致溶酶体内的糖原分解障碍并大量贮积而致病 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 疾 病 症 血;血液

63416-2 Pompe disease newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

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

Additional Names

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

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.36
Last Updated
Version 2.42
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Enfermedad de Pompe screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX Spanish (Mexico) Comentario-discusión del cribado neonatal de la enfermedad de Pompe:Texto:Punto temporal:DBS:Narrativo:
fr-FR French (France) Maladie de Pompe dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
it-IT Italian (Italy) Morbo di Pompe, screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar:
Synonyms: Chimica Commento-discussione di screening neonatale per morbo di Pompe Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL Dutch (Netherlands) ziekte van Pompe screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
ru-RU Russian (Russian Federation) Помпе болезнь новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис:
Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR Turkish (Turkey) Pompe hastalığı yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN Chinese (China) 庞贝病 新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型:
Synonyms: Ⅱ型糖原累积病;glycogen storage disease typeⅡ;GSDⅡ;酸性麦芽糖酶缺乏症;Pompe病;属于常染色体隐性遗传性疾病,是由于酸性α-糖苷酶的缺乏,导致溶酶体内的糖原分解障碍并大量贮积而致病 Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 备注 备注;评论;注解;说明;评语 庞贝病新生儿筛查注释/讨论 意见 文本;文本型;文本属性 新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论 无症状 无症状（Asymptomatic，Asympt） 无症状的 无症状筛查 时刻;随机;随意;瞬间 普查 普查试验 注解 疾 病 症 短评 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 血;血液 解说 解释 评定 评注 评论 评语 说明

55827-0 Acid alpha glucosidase [Enzymatic activity/volume] in DBS

Term Description

This is a newborn screening test to detect enzymatic activity in dried blood spot to screen for Pompe disease, which is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially in muscles, impairs their ability to function normally. Major features of Pompe disease include muscle weakness, heart abnormalities, and breathing problems. This disorder is caused by mutations in the GAA gene; it has an autosomal recessive pattern of inheritance.
Source: Regenstrief LOINC

Part Descriptions

LP14013-4   Acid alpha glucosidase
Alpha (A) glucosidase is an enzyme found in tissue fibroblasts that is useful for delineatig the reason for muscle wasting and ruling out Pompe's disease. Source: Regenstrief Institute

Reference Information

Type Source Reference
Article National Library of Medicine Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Acid alpha glucosidase
Property
CCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
Acid A-Glucosidase DBS-cCnc
Display Name
Acid alpha glucosidase (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info
Acid alpha glucosidase, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.70
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
105458-4 Lysosomal and peroxisomal storage disorders panel - DBS
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: Alpha-Glucosidase /BT
es-ES Spanish (Spain) Alfa glucoxidasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Alfa glucosidasa ácida:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
et-EE Estonian (Estonia) Alfaglükosidaas:CCnc:Pt:Vereplekk:Qn:
Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA French (Canada) Alpha-glucosidase acide:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR French (France) Alpha glucosidase acide:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE French (Belgium) Alpha glucosidase acide:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT Italian (Italy) Acido alfa glucosidasi:CCnC:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) zure alfa-glucosidase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pl-PL Polish (Poland) Kwaśna alfa-glukozydaza:stężenie katalityczne:punkt w czasie:sucha kropla krwi:ilościowy:
Synonyms: Glukozydaza Kwaśna alfa-glukozydaza
pt-BR Portuguese (Brazil) Alfa glucosidase:#N/A:Pt:SgPapel:Qn:
Synonyms: Glucoinvertase; Glucosidosucrase; Maltase; Maltase-glucoamylase; A-Glucosidase; Pompe disease; GAA; Alpha-1,4-glucosidase; Acid maltase; Catalytic Concentration; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Alfa; Chemistry
ru-RU Russian (Russian Federation) Кислая альфа глюкозидаза:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR Turkish (Turkey) Asit alfa glukozidaz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) Alpha 葡糖苷酶:催化浓度:时间点:全血.斑点:定量型:
Synonyms: Alpha 葡萄糖苷酶;Alpha-1,4-葡糖苷酶;Alpha-1,4-葡萄糖苷酶;Alpha-葡糖苷酶;Alpha-葡萄糖苷酶;A-葡糖苷酶;A-葡萄糖苷酶;GAA;Pompe 氏病;Pompe 病;α-1,4-葡糖苷酶;α-1,4-葡萄糖苷酶;α葡糖苷酶;α-葡糖苷酶;α葡萄糖苷酶;α-葡萄糖苷酶;酸性麦牙糖酶;酸性麦芽糖酵素;酸性麦芽糖酶;麦牙糖酶;麦芽糖酵素;麦芽糖酶 α 催化浓度(单位体积);单位体积内酶的单位数 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 葡糖基蔗糖酶;葡萄糖苷酶;葡萄糖转化酶;麦牙糖酶;麦芽糖酶;麦芽糖酶-葡糖淀粉酶;麦芽糖酶-葡糖糖化酶 血;血液 酸 阿尔法

Example Units

Unit Source
umol/L/h Example UCUM Units