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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 Isobutyryl-coenzyme A dehydrogenase deficiency (IBG).

Part Description

LP174561-3   Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-coenzyme A dehydrogenase deficiency (isobutyrylglycinuria; IBG) is an inherited disorder characterized by inadequate levels of an enzyme that helps break down the amino acid valine. Signs and symptoms of this disorder may not appear until late infancy or childhood and can include failure to thrive, dilated cardiomyopathy, seizures, anemia, and very low blood levels of carnitine. This condition may be worsened by periods of fasting or infections that increase the body's demand for energy. Isobutyrylglycinuria is caused by mutations in the ACAD8 gene and has an autosomal recessive pattern of inheritance. Source: Regenstrief LOINC

LOINC Names Get Info

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

Part Model Get Info

  • Component
    Isobutyryl-CoA dehydrogenase deficiency
    LP174561-3
    • Analyte
      Isobutyryl-CoA dehydrogenase deficiency
      LP174561-3
      • Component Numerator
        Isobutyryl-CoA dehydrogenase deficiency
        LP174561-3
        • Component Numerator Core
          Isobutyryl-CoA dehydrogenase deficiency
          LP174561-3
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    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)Izobutyryl-CoA-dehydrogenáza deficit:Interpretace:Časový bod:Suchá krevní kapka (DBS):Nominální:
el-GRGreek (Greece)Ανεπάρκεια ισοβουτυρυλο-CoA αφυδρογονάσης:Imp:Pt:Bld.dot:Nom:
Synonyms: Bld.dot CHEM Imp Nom Pt Αίμα Ανεπάρκεια ισοβουτυρυλο-CoA αφυδρογονάσης
es-ESSpanish (Spain)Deficiencia de Isobutiril-CoA deshidrogenasa:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MXSpanish (Mexico)Deficiencia de isobutiril-CoA deshidrogenasa:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FRFrench (France)Isobutyryl CoA déshydrogénase carence:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
it-ITItalian (Italy)Isobutirril-CoA deidrogenasi, 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)isobutyryl-CoA-dehydrogenasedeficiëntie:interpretatie:moment:gedroogde bloedspot:nominaal:
Synonyms: Isobutyryl-CoA dehydrogenase deficientie
ru-RURussian (Russian Federation)Изобутирил-КоА дегидрогеназа недостаточность:Впчт:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TRTurkish (Turkey)İzobütiril-KoA dehidrojenaz yetmezliği:İzlnm:Zmlı:Kan.nokta:Snf:
Synonyms: İzobütiril-KoA dehidrogenaz yetmezliği
zh-CNChinese (China)异丁酰辅酶 A 脱氢酶缺陷:印象:时间点:全血.斑点:名义型:
Synonyms: IBG 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 异丁酰 CoA 脱氢酶缺陷 异丁酰-CoA 脱氢酶缺陷 异丁酰基-CoA 脱氢酶缺陷 异丁酰基辅酶 A 脱氢酶缺陷 异丁酰辅酶 A 脱氢酶缺陷（Isobutyryl-CoA dehydrogenase deficiency，IBG） 时刻;随机;随意;瞬间 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=74297-3