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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.

Panel Hierarchy

Details for each LOINC in Panel LHC-Forms

LOINCNameR/O/CCardinalityExample UCUM Units
79563-3Mucopolysaccharidosis type I newborn screening panel
Indent55909-6Alpha-L-iduronidase [Enzymatic activity/volume] in DBSumol/h/L
Indent79564-1Mucopolysaccharidosis type I newborn screen interpretation
Indent79565-8Mucopolysaccharidosis type I newborn screening comment-discussion

LOINC Names Get Info

Fully-Specified Name
Mucopolysaccharidosis type I newborn screening panel:-:Pt:Bld.dot:-:
Long Common Name
Mucopolysaccharidosis type I newborn screening panel
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

Part Model Get Info

  • Component
    Mucopolysaccharidosis type I newborn screening panel
    LP203230-0
    • Analyte
      Mucopolysaccharidosis type I newborn screening panel
      LP203230-0
      • Component Numerator
        Mucopolysaccharidosis type I newborn screening panel
        LP203230-0
        • Component Numerator Core
          Mucopolysaccharidosis type I newborn screening panel
          LP203230-0
        • 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 2.54
Last Updated
Version 2.77 (PANEL)
Order vs. Observation
Order
Panel Type
Panel

Member of these Panels

LOINCLong Common Name
62300-9Lysosomal disorders newborn screening panel
54089-8Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Mukopolysacharidóza typu I novorozenecký screening panel:-:Časový bod:Suchá krevní kapka (DBS):-:
el-GRGreek (Greece)Πίνακας εξετάσεων διαλογής νεογνών βλεννοπολυσακχαρίδωσης τύπου Ι:-:Pt:Bld.dot:-:
Synonyms: - Bld.dot CHEM I PANEL.CHEM Pt Type Αίμα Βλεννοπολυσακχαρίδωση Βλεννοπολυσακχαρίδωση τύπου I Πίνακας εξετάσεων διαλογής νεογνών Πίνακας εξετάσεων διαλογής νεογνών βλεννοπολυσακχαρίδωσης τύπου Ι
es-ESSpanish (Spain)Panel de cribado neonatal Mucopolisacaridosis tipo I:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
es-MXSpanish (Mexico)Panel de cribado neonatal de mucopolisacaridosis tipo I:-:Punto temporal:DBS:-:
fr-FRFrench (France)Mucopolysaccharidoses type I dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-ITItalian (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-NLDutch (Netherlands)mucopolysaccharidose type I pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
Synonyms: MPS soort
pl-PLPolish (Poland)Panel badań przesiewowych noworodków w kierunku mukopolisacharydozy typu I:-:punkt w czasie:sucha kropla krwi:-:
zh-CNChinese (China)黏多糖贮积症 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;粘多糖病 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;粘多糖贮积症 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） 粘多糖贮积症;黏多糖病;粘多糖病 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=79563-3
Questionnaire definition
https://fhir.loinc.org/Questionnaire/?url=http://loinc.org/q/79563-3