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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).

Part Description

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

LOINC Names Get Info

Fully-Specified Name
Mucopolysaccharidosis type I:Imp:Pt:Bld.dot:Nom:
Long Common Name
Mucopolysaccharidosis type I newborn screen interpretation
Short Name
MPS I DBS-Imp
Display Name
Mucopolysaccharidosis type I (DBS) [Interp]
Consumer Name Alpha Get Info
Mucopolysaccharidosis Type I, Dried blood spot

Part Model Get Info

  • Component
    Mucopolysaccharidosis type I
    LP203226-8
    • Analyte
      Mucopolysaccharidosis type I
      LP203226-8
      • Component Numerator
        Mucopolysaccharidosis type I
        LP203226-8
        • Component Numerator Core
          Mucopolysaccharidosis type I
          LP203226-8
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Imp
    LP6819-9
  • Time
    Pt
    LP6960-1
  • System
    Bld.dot
    LP21304-8
    • System Core
      Bld.dot
      LP21304-8
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    NULL
     

Preferred Answer List: LL6931-1

AnswerCodeScoreAnswer ID
BorderlineLA4259-3
IndeterminateCopyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)LA11884-6
One or more tests pendingLA16204-2
Screen NegativeLA34518-3
Screen PositiveLA34519-1
Specimen unacceptable for at least one conditionLA34520-9
InconclusiveCopyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value)LA9663-1
Not testedLA13538-6

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.83 (MIN)
Change Reason
Release 2.81: AnswerListId: APHL change request;
Order vs. Observation
Both

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:Interpretace:Časový bod:Suchá krevní kapka (DBS):Nominální:
el-GRGreek (Greece)Βλεννοπολυσακχαρίδωση τύπου I:Imp:Pt:Bld.dot:Nom:
Synonyms: Bld.dot CHEM I Imp Nom Pt Type Αίμα Βλεννοπολυσακχαρίδωση Βλεννοπολυσακχαρίδωση τύπου I
es-ESSpanish (Spain)Mucopolisacaridosis tipo I:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MXSpanish (Mexico)Mucopolisacaridosis tipo I:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FRFrench (France)Mucopolysaccharidose type 1:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
it-ITItalian (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-NLDutch (Netherlands)mucopolysaccharidose type I:interpretatie:moment:gedroogde bloedspot:nominaal:
Synonyms: MPS soort
tr-TRTurkish (Turkey)Mukopolisakkaridozis tip I:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CNChinese (China)黏多糖贮积症 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;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 粘多糖贮积症;黏多糖病;粘多糖病 血;血液

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