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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 isovaleric acidemia (IVA).

Part Description

LP174558-9   Isovaleric acidemia
Isovaleric acidemia (IVA) is an inherited disorder characterized by inadequate levels of an enzyme that helps break down the amino acid leucine. In severe cases, signs and symptoms become apparent within a few days after birth and include poor feeding, vomiting, seizures, lethargy, coma, and possibly death. In other cases, signs and symptoms appear during childhood. Isovaleric acidemia is caused by mutations in the IVD gene and has an autosomal recessive pattern of inheritance. Source: Regenstrief LOINC

LOINC Names Get Info

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

Part Model Get Info

  • Component
    Isovaleric acidemia
    LP174558-9
    • Analyte
      Isovaleric acidemia
      LP174558-9
      • Component Numerator
        Isovaleric acidemia
        LP174558-9
        • Component Numerator Core
          Isovaleric acidemia
          LP174558-9
        • 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)Acidémie izovalerová:Interpretace:Časový bod:Suchá krevní kapka (DBS):Nominální:
el-GRGreek (Greece)Ισοβαλερική οξυαιμία:Imp:Pt:Bld.dot:Nom:
Synonyms: Bld.dot CHEM Imp Nom Pt Αίμα Ισοβαλερική οξυαιμία
es-ESSpanish (Spain)Acidemia isovalérica:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MXSpanish (Mexico)Acidemia isovalérica:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FRFrench (France)Acidémie isovalérique:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
it-ITItalian (Italy)Acidemia isovalerica: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)isovaleriaanzuur acidemie:interpretatie:moment:gedroogde bloedspot:nominaal:
pl-PLPolish (Poland)Kwasica izowalerianowa:ocena:punkt w czasie:sucha kropla krwi:skala nominalna:
Synonyms: wynik kategorialny
ru-RURussian (Russian Federation)Изовалериановая ацидемия:Впчт:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TRTurkish (Turkey)Izovalerik asidemi:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CNChinese (China)异戊酸血症:印象:时间点:全血.斑点:名义型:
Synonyms: IVA 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 异戊酸血毒症;異戊酸血症 异戊酸血症（Isovaleric acidemia，IVA） 异缬草酸血症 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=74294-0