Log In

Term Description

This observation indicates whether the newborn screen was in-range or out-of-range for the analytes related to 3-Methylcrotonyl-CoA carboxylase (3-MCC).

Part Description

LP174560-5   3-Methylcrotonyl-CoA carboxylase deficiency
3-Methylcrotonyl-CoA carboxylase (3-MCC) deficiency is an inherited disorder characterized by inadequate levels of an enzyme that helps break down the amino acid leucine. Signs and symptoms of this condition usually develop in infancy or early childhood and include feeding difficulties, vomiting, diarrhea, lethargy, and hypotonia. If untreated, this disorder can lead to delayed development, seizures, and coma. 3-methylcrotonyl-CoA carboxylase deficiency is caused by mutations in the MCCC1 or MCCC2 gene and has an autosomal recessive pattern of inheritance. Source: Regenstrief LOINC

LOINC Names Get Info

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

Part Model Get Info

  • Component
    3-Methylcrotonyl-CoA carboxylase deficiency
    LP174560-5
    • Analyte
      3-Methylcrotonyl-CoA carboxylase deficiency
      LP174560-5
      • Component Numerator
        3-Methylcrotonyl-CoA carboxylase deficiency
        LP174560-5
        • Component Numerator Core
          3-Methylcrotonyl-CoA carboxylase deficiency
          LP174560-5
        • 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)3-methylkrotonyl-CoA-karboxyláza deficit:Interpretace:Časový bod:Suchá krevní kapka (DBS):Nominální:
el-GRGreek (Greece)ανεπάρκεια 3-μεθυλοκροτονυλο-CoA καρβοξυλάσης:Imp:Pt:Bld.dot:Nom:
Synonyms: 3-μεθυλοκροτονυλο-CoA καρβοξυλάση Bld.dot CHEM Imp Nom Pt Αίμα ανεπάρκεια 3-μεθυλοκροτονυλο-CoA καρβοξυλάσης
es-ESSpanish (Spain)Deficiencia de 3-Metilcrotonil-CoA carboxilasa:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MXSpanish (Mexico)Deficiencia de 3-metilcrotonil-CoA carboxilasa:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FRFrench (France)3-méthylcrotonyl CoA carboxylase carence:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
it-ITItalian (Italy)3-Metilcrotonil-CoA carbossilasi, 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)3-methylcrotonyl-CoA-carboxylasedeficiëntie:interpretatie:moment:gedroogde bloedspot:nominaal:
Synonyms: 3-Methylcrotonyl-CoA carboxylase deficientie
pl-PLPolish (Poland)Niedobór Karboksylazy 3-metylokrotonylo-CoA:ocena:punkt w czasie:sucha kropla krwi:skala nominalna:
Synonyms: 3-MCCD wynik kategorialny
ru-RURussian (Russian Federation)3-Метилкротонил-КоА карбоксилаза недостаточность:Впчт:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TRTurkish (Turkey)3-Metilkrotonil-KoA karboksilaz yetmezliği:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CNChinese (China)3-甲基巴豆酰基-辅酶 A 羧化酶缺陷:印象:时间点:全血.斑点:名义型:
Synonyms: 3-甲基巴豆酰-CoA 羧化酶;3-甲基巴豆酰基辅酶 A 羧化酶 3-甲基巴豆酰基-CoA 羧化酶缺陷 Ⅲ III 三 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 叁 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=74296-5