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Reference Information

TypeSourceReference
ArticleNational Library of MedicineWang 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

LOINCNameR/O/CCardinalityExample UCUM Units
62300-9Lysosomal disorders newborn screening panelC
Indent62301-7Lysosomal disorders newborn screen interpretationC0..1
Indent62303-3Lysosomal disorders newborn screening comment-discussionC0..1
Indent62302-5Lysosomal disorders suspected [Identifier] in DBSC0..1
Indent62304-1Fabry disease newborn screening panelC
IndentIndent62305-8Fabry disease newborn screen interpretationR0..1
IndentIndent62306-6Fabry disease newborn screening comment-discussionC0..1
IndentIndent55908-8Alpha galactosidase A [Enzymatic activity/volume] in DBSC0..1umol/L/h
Indent62307-4Krabbe disease newborn screening panelC
IndentIndent62308-2Krabbe disease newborn screen interpretationR0..1
IndentIndent62309-0Krabbe disease newborn screening comment-discussionC0..1
IndentIndent62310-8Galactosylceramidase [Enzymatic activity/volume] in DBSC0..1umol/L/h
Indent62311-6Gaucher disease newborn screening panelC
IndentIndent62312-4Gaucher disease newborn screen interpretationR0..1
IndentIndent62313-2Gaucher disease newborn screening comment-discussionC0..1
IndentIndent55917-9Glucosylceramidase [Enzymatic activity/volume] in DBSC0..*umol/L/h
Indent79563-3Mucopolysaccharidosis type I newborn screening panel
IndentIndent55909-6Alpha-L-iduronidase [Enzymatic activity/volume] in DBSumol/h/L
IndentIndent79564-1Mucopolysaccharidosis type I newborn screen interpretation
IndentIndent79565-8Mucopolysaccharidosis type I newborn screening comment-discussion
Indent104188-8Mucopolysaccharidosis type II newborn screening panel
IndentIndent79462-8Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBSnmol/h/mL
IndentIndent104190-4Mucopolysaccharidosis type II comment [Text] in DBS Narrative
IndentIndent104189-6Mucopolysaccharidosis type II newborn screen interpretation newborn screen interpretation
Indent62315-7Niemann Pick disease A/B newborn screening panelC
IndentIndent62318-1Niemann Pick disease A/B newborn screen interpretationR0..1
IndentIndent62319-9Niemann Pick disease A/B newborn screening comment-discussionC0..1
IndentIndent62316-5Acid sphingomyelinase [Enzymatic activity/volume] in DBSC0..1umol/L/h
Indent63414-7Pompe disease newborn screening panelC
IndentIndent63415-4Pompe disease newborn screen interpretationR0..*
IndentIndent63416-2Pompe disease newborn screening comment-discussionC0..*
IndentIndent55827-0Acid alpha glucosidase [Enzymatic activity/volume] in DBSC0..*umol/L/h
Indent111825-6Metachromatic Leukodystrophy newborn screening panel
IndentIndent111823-1Metachromatic leukodystrophy comment [Text] in DBS Narrative
IndentIndent111822-3Metachromatic leukodystrophy comment newborn screen interpretation
IndentIndent111824-9Cerebroside sulfatase [Enzymatic activity/volume] in DBSU/L
IndentIndent112305-8C16:0 sulfatide [Mass/volume] in DBSng/mL
IndentIndent112304-1C16:1-OH sulfatide [Mass/volume] in DBSng/mL

LOINC Names Get Info

Fully-Specified Name
Lysosomal disorders newborn screening panel:-:Pt:Bld.dot:-:
Long Common Name
Lysosomal disorders newborn screening panel
Short Name
LD NBS pnl DBS
Display Name
Lysosomal disorders NBS panel (DBS)
Consumer Name Alpha Get Info
Lysosomal disorders NBS panel, Dried blood spot

Part Model Get Info

  • Component
    Lysosomal disorders newborn screening panel
    LP111173-3
    • Analyte
      Lysosomal disorders newborn screening panel
      LP111173-3
      • Component Numerator
        Lysosomal disorders newborn screening panel
        LP111173-3
        • Component Numerator Core
          Lysosomal disorders newborn screening panel
          LP111173-3
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    -
    LP6769-6
  • Time
    Pt
    LP6960-1
  • System
    Bld.dot
    LP21304-8
    • System Core
      Bld.dot
      LP21304-8
    • Super System
      NULL
       
  • Scale
    -
    LP7747-1
  • Method
    NULL
     

Basic Attributes

Class
PANEL.CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.83 (PANEL)
Order vs. Observation
Order
Panel Type
Panel

Member of these Panels

LOINCLong Common Name
54089-8Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Lysozomální střádavá onemocnění novorozenecký screening panel:-:Časový bod:Suchá krevní kapka (DBS):-:
el-GRGreek (Greece)Πίνακας εξετάσεων διαλογής νεογνών για διαταραχές λυσοσωμικής αποθήκευσης:-:Pt:Bld.dot:-:
Synonyms: - Bld.dot CHEM PANEL.CHEM Pt Αίμα Διαταραχές λυσοσωμικής αποθήκευσης Πίνακας εξετάσεων διαλογής νεογνών Πίνακας εξετάσεων διαλογής νεογνών για διαταραχές λυσοσωμικής αποθήκευσης
es-ESSpanish (Spain)Cribado de trastornos de almacenamiento lisosomal en recién nacido:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MXSpanish (Mexico)Panel de cribado neonatal de trastornos por almacenamiento lisosómico:-:Punto temporal:DBS:-:
fr-FRFrench (France)Maladies lysosomales dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-ITItalian (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-NLDutch (Netherlands)lysosomale stapelingsziekte pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
ru-RURussian (Russian Federation)Лизосомальные болезни накопления новорождённых скрининг панель:-:ТчкВрм:Кр.Сух.капл:-:
Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CNChinese (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