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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 Hydroxymethylglutaryl CoA lyase.

Part Description

LP175628-9   Hydroxymethylglutaryl CoA lyase deficiency
Hydroxymethylglutaryl CoA lyase deficiency (HMG; also known as 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency and 3-Hydroxy-3-methylglutaric aciduria) is an inherited disorder in which the body is unable to process the amino acid leucine or make ketones properly. Within the first year of life, this condition causes episodes of vomiting, diarrhea, dehydration, lethargy, hypotonia, hypoglycemia, and metabolic acidosis. If untreated, this disorder can lead to breathing problems, convulsions, coma, and death. HMG deficiency is caused by mutations in the HMGCL gene and has an autosomal recessive pattern of inheritance. Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
Hydroxymethylglutaryl CoA lyase deficiency:Imp:Pt:Bld.dot:Nom:
Long Common Name
Hydroxymethylglutaryl CoA lyase deficiency newborn screen interpretation
Short Name
HMG-CoA Lyase deficiency DBS-Imp
Display Name
Hydroxymethylglutaryl CoA lyase deficiency (DBS) [Interp]
Consumer Name Alpha Get Info
Hydroxymethylglutaryl coA lyase deficiency, Dried blood spot

Part Model Get Info

  • Component
    Hydroxymethylglutaryl CoA lyase deficiency
    LP175628-9
    • Analyte
      Hydroxymethylglutaryl CoA lyase deficiency
      LP175628-9
      • Component Numerator
        Hydroxymethylglutaryl CoA lyase deficiency
        LP175628-9
        • Component Numerator Core
          Hydroxymethylglutaryl CoA lyase deficiency
          LP175628-9
        • 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
     

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.46
Last Updated
Version 2.46 (MIN)
Order vs. Observation
Observation

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Hydroxymethylglutaryl-CoA-lyáza deficit:Interpretace:Časový bod:Suchá krevní kapka (DBS):Nominální:
el-GRGreek (Greece)Ανεπάρκεια υδροξυ-μεθυλο-γλουτάρυλο-CoA λυάσης:Imp:Pt:Bld.dot:Nom:
Synonyms: Bld.dot CHEM Imp Nom Pt Αίμα Ανεπάρκεια υδροξυ-μεθυλο-γλουτάρυλο-CoA λυάσης Υδροξυ-μεθυλο-γλουτάρυλο-CoA λυάση
es-ESSpanish (Spain)Deficiencia de hidroximetilglutaril CoA liasa:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MXSpanish (Mexico)Deficiencia de hidroximetilglutaril CoA liasa:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FRFrench (France)Hydroxyméthylglutaryl CoA lyase carence:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
it-ITItalian (Italy)Idrossimetilglutaril-CoA liasi, deficit:Imp:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Deficit di Idrossimetilglutaril-CoA liasi Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NLDutch (Netherlands)hydroxymethylglutaryl-CoA-lyasedeficiëntie:interpretatie:moment:gedroogde bloedspot:nominaal:
Synonyms: hydroxymethylglutaryl CoA lyase deficientie
pl-PLPolish (Poland)Niedobór liazy 3-hydroksy-3-metyloglutarylo-CoA:ocena:punkt w czasie:sucha kropla krwi:skala nominalna:
Synonyms: Liaza 3-hydroksy-3-metyloglutarylo-CoA;HMGCL Niedobór HMGCL;Niedobór liazy HMG-CoA wynik kategorialny
ru-RURussian (Russian Federation)Гидроксиметилглутарил КоА лиаза недостаточность:Впчт:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Впечатление/интерпретация исследования Гидроксиметилглутарил-КоА-лиаза;Гидроксиметилглутарил-CoA-лиаза Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TRTurkish (Turkey)Hdroksimetilglutaril KoA lyaz yetmezliği:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CNChinese (China)羟甲基戊二酰辅酶 A 裂合酶缺陷:印象:时间点:全血.斑点:名义型:
Synonyms: 3-羟基-3-甲基戊二酰 CoA 裂解酶;3-羟基-3-甲基戊二酰辅酶 A 裂解酶;3-羟基-3-甲基戊二醯辅酶 A 裂解酶;HMG-CoA lyase;HMG-CoA 裂解酶;羟甲基戊二酰辅酶 A 裂解酶 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 羟甲基戊二酰 CoA 裂合酶缺陷 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=74295-7