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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 Short-chain acyl-CoA dehydrogenase deficiency (SCAD).

Short-chain acyl-CoA dehydrogenase deficiency (SCAD) is an inherited condition characterized by inadequate levels of an enzyme required to break down short-chain fatty acids. Some affected infants will exhibit vomiting, hypoglycemia, lethargy, poor feeding, failure to thrive, hypotonia, seizures, developmental delay, and microcephaly. Some individuals begin to experience signs and symptoms during adulthood, while others remain asymptomatic. Short-chain acyl-CoA dehydrogenase deficiency is caused by mutations in the ACADS gene and has an autosomal recessive pattern of inheritance.
Source: Regenstrief LOINC

Part Description

LP174562-1   Short-chain acyl-CoA dehydrogenase deficiency
Short-chain acyl-CoA dehydrogenase deficiency (SCAD) is an inherited condition characterized by inadequate levels of an enzyme required to break down short-chain fatty acids. Some affected infants will exhibit vomiting, hypoglycemia, lethargy, poor feeding, failure to thrive, hypotonia, seizures, developmental delay, and microcephaly. Some individuals begin to experience signs and symptoms during adulthood, while others remain asymptomatic. Short-chain acyl-CoA dehydrogenase deficiency is caused by mutations in the ACADS gene and has an autosomal recessive pattern of inheritance. Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
Short-chain acyl-CoA dehydrogenase deficiency:Imp:Pt:Bld.dot:Nom:
Long Common Name
Short-chain acyl-CoA dehydrogenase deficiency newborn screen interpretation
Short Name
SCAD deficiency DBS-Imp
Display Name
Short-chain acyl-CoA dehydrogenase deficiency (DBS) [Interp]
Consumer Name Alpha Get Info
Short-chain acyl-CoA dehydrogenase deficiency, Dried blood spot

Part Model Get Info

  • Component
    Short-chain acyl-CoA dehydrogenase deficiency
    LP174562-1
    • Analyte
      Short-chain acyl-CoA dehydrogenase deficiency
      LP174562-1
      • Component Numerator
        Short-chain acyl-CoA dehydrogenase deficiency
        LP174562-1
        • Component Numerator Core
          Short-chain acyl-CoA dehydrogenase deficiency
          LP174562-1
        • 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)Acyl-CoA-dehydrogenáza s krátkým řetězcem deficit (SCAD):Interpretace:Časový bod:Suchá krevní kapka (DBS):Nominální:
el-GRGreek (Greece)Ανεπάρκεια ακυλο-CoA αφυδρογονάσης βραχείας αλύσου:Imp:Pt:Bld.dot:Nom:
Synonyms: Bld.dot CHEM Imp Nom Pt Αίμα Ακυλο-CoA αφυδρογονάση Ανεπάρκεια ακυλο-CoA αφυδρογονάσης βραχείας αλύσου
es-ESSpanish (Spain)Deficiencia de acil-CoA deshidrogenasa de cadena corta:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MXSpanish (Mexico)Deficiencia de acil-CoA deshidrogenasa de cadena corta:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FRFrench (France)Acyl CoA déshydrogénase à courte chaine carence:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
it-ITItalian (Italy)Acil-CoA deidrogenasi a catena corta, deficit: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)korte-keten acyl-CoA-dehydrogenase-deficiëntie:interpretatie:moment:gedroogde bloedspot:nominaal:
Synonyms: korte keten acyl-CoA dehydrogenase deficientie
ru-RURussian (Russian Federation)Ацил-КоА-дегидрогеназа коротких цепей дефицит:Впчт:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TRTurkish (Turkey)Kısa-zincir açil-KoA dehidrojenaz yetmezliği:İzlnm:Zmlı:Kan.nokta:Snf:
Synonyms: Kısa-zincir açil-KoA dehidrogenaz yetmezliği
zh-CNChinese (China)短链酰基辅酶 A 脱氢酶缺陷:印象:时间点:全血.斑点:名义型:
Synonyms: AcdA;酰基辅酶 A 脱氢酶 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 去氢酶 时刻;随机;随意;瞬间 短链酰基 CoA 脱氢酶缺陷 血;血液

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https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=74298-1