Version 2.78

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

Panel Hierarchy

Details for each LOINC in Panel LHC-Forms

LOINC Name R/O/C Cardinality Example UCUM Units
62300-9 Lysosomal storage disorders newborn screening panel C
Indent62301-7 Lysosomal storage disorders newborn screen interpretation C 0..1
Indent62303-3 Lysosomal storage disorders newborn screening comment-discussion C 0..1
Indent62302-5 Lysosomal storage disorders suspected [Identifier] in DBS C 0..1
Indent104189-6 Mucopolysaccharidosis type II newborn screen interpretation newborn screen interpretation
Indent62304-1 Fabry disease newborn screening panel C
IndentIndent62305-8 Fabry disease newborn screen interpretation R 0..1
IndentIndent62306-6 Fabry disease newborn screening comment-discussion C 0..1
IndentIndent55908-8 Alpha galactosidase A [Enzymatic activity/volume] in DBS C 0..1 umol/L/h
Indent62307-4 Krabbe disease newborn screening panel C
IndentIndent62308-2 Krabbe disease newborn screen interpretation R 0..1
IndentIndent62309-0 Krabbe disease newborn screening comment-discussion C 0..1
IndentIndent62310-8 Galactosylceramidase [Enzymatic activity/volume] in DBS C 0..1 umol/L/h
Indent62311-6 Gaucher disease newborn screening panel C
IndentIndent62312-4 Gaucher disease newborn screen interpretation R 0..1
IndentIndent62313-2 Gaucher disease newborn screening comment-discussion C 0..1
IndentIndent55917-9 Glucosylceramidase [Enzymatic activity/volume] in DBS C 0..* umol/L/h
Indent79563-3 Mucopolysaccharidosis type I newborn screening panel
IndentIndent55909-6 Alpha-L-iduronidase [Enzymatic activity/volume] in DBS umol/h/L
IndentIndent79564-1 Mucopolysaccharidosis type I newborn screen interpretation
IndentIndent79565-8 Mucopolysaccharidosis type I newborn screening comment-discussion
Indent62315-7 Niemann Pick disease A/B newborn screening panel C
IndentIndent62318-1 Niemann Pick disease A/B newborn screen interpretation R 0..1
IndentIndent62319-9 Niemann Pick disease A/B newborn screening comment-discussion C 0..1
IndentIndent62316-5 Acid sphingomyelinase [Enzymatic activity/volume] in DBS C 0..1 umol/L/h
Indent63414-7 Pompe disease newborn screening panel C
IndentIndent63415-4 Pompe disease newborn screen interpretation R 0..*
IndentIndent63416-2 Pompe disease newborn screening comment-discussion C 0..*
IndentIndent55827-0 Acid alpha glucosidase [Enzymatic activity/volume] in DBS C 0..* umol/L/h

Fully-Specified Name

Component
Lysosomal storage disorders newborn screening panel
Property
-
Time
Pt
System
Bld.dot
Scale
-
Method

Additional Names

Long Common Name
Lysosomal storage disorders newborn screening panel
Short Name
LSD NBS pnl DBS
Display Name
Lysosomal storage disorders NBS panel (DBS)
Consumer Name Alpha Get Info
Lysosomal Storage Disorders NBS Panel, Dried blood spot

Basic Attributes

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

Member of these Panels

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

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Cribado de trastornos de almacenamiento lisosomal en recién nacido:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MX Spanish (Mexico) Panel de cribado neonatal de trastornos por almacenamiento lisosómico:-:Punto temporal:DBS:-:
fr-FR French (France) Maladie lysosomiales dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT Italian (Italy) Disturbo da accumulo lisosomiale, panel screening neonatale:-:Pt:Sangue.su carta da filtro:-:
Synonyms: Chimica Panel screening neonatale Panel screening neonatale per disturbo da accumulo Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL Dutch (Netherlands) lysosomale stapelingsziekte pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
pt-BR Portuguese (Brazil) Doenças de depósito lisossômico painel de triagem neonatal::Pt:SgPapel:-:
ru-RU Russian (Russian Federation) Лизосомальные болезни накопления новорождённых скрининг панель:-:ТчкВрм:Кр.Сух.капл:-:
Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN Chinese (China) 溶酶体贮积症新生儿筛查组套:-:时间点:全血.斑点:-:
Synonyms: Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套 无症状 无症状（Asymptomatic，Asympt） 无症状的 无症状筛查 时刻;随机;随意;瞬间 普查 普查试验 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 溶酶体累积病;lysosomal storage diseases;溶酶体贮积病;溶酶体储积疾病;Lysosomal storage disorders 溶酶体贮积症（溶酶体贮积病、溶酶体储积疾病、溶酶体储存障碍、溶酶体蓄积病、溶酶体堆积病）新生儿（NB）筛查（筛选、过筛、筛检）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;溶酶体贮积症新生儿筛查组合;溶酶体贮积病新生儿筛查医嘱组;溶酶体储积病新生儿筛查医嘱组;Lysosomal storage diseases;Lysosomal storage disorders 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 组 组合 组合医嘱 组合类 组套 血;血液

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=62300-9
Questionnaire definition
https://fhir.loinc.org/Questionnaire/?url=http://loinc.org/q/62300-9