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Term Description

Multiple carboxylase deficiency (MCD), also known as holocarboxylase synthetase deficiency, is an inherited disorder in which the body is unable to use the vitamin biotin effectively. It is caused by mutations in the HLCS gene and has an autosomal recessive pattern of inheritance. This observation indicates whether the newborn screen was in-range or out-of-range for the analytes related to multiple carboxylase deficiency.

LOINC Names Get Info

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

Part Model Get Info

  • Component
    Multiple carboxylase deficiency
    LP172597-9
    • Analyte
      Multiple carboxylase deficiency
      LP172597-9
      • Component Numerator
        Multiple carboxylase deficiency
        LP172597-9
        • Component Numerator Core
          Multiple carboxylase deficiency
          LP172597-9
        • 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
     

Preferred Answer List: LL6931-1

AnswerCodeScoreAnswer ID
BorderlineLA4259-3
IndeterminateCopyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)LA11884-6
One or more tests pendingLA16204-2
Screen NegativeLA34518-3
Screen PositiveLA34519-1
Specimen unacceptable for at least one conditionLA34520-9
InconclusiveCopyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value)LA9663-1
Not testedLA13538-6

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.44
Last Updated
Version 2.56 (MIN)
Change Reason
Release 2.81: AnswerListId: APHL change request; Previous Releases: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation
Observation

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Mnohočetný karboxylázový deficit:Interpretace:Časový bod:Suchá krevní kapka (DBS):Nominální:
el-GRGreek (Greece)Πολλαπλή ανεπάρκεια καρβοξυλάσης:Imp:Pt:Bld.dot:Nom:
Synonyms: Bld.dot CHEM Imp Nom Pt Αίμα Πολλαπλή ανεπάρκεια καρβοξυλάσης
es-ESSpanish (Spain)Deficiencia múltiple a carboxilasa:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MXSpanish (Mexico)Deficiencia múltiple de carboxilasa:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FRFrench (France)Carboxylase carence multiple:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
it-ITItalian (Italy)Deficit multiplo di carbossilasi:Imp:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Deficit multiplo di carbossilasi (MCD) Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
ru-RURussian (Russian Federation)Множественная карбоксилаз недостаточность:Впчт:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Множественная недостаточность карбоксилаз Номинальный;Именной Точка во времени;Момент
tr-TRTurkish (Turkey)Çoklu karboksilaz eksikliği:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CNChinese (China)多种羧化酶缺陷症:印象:时间点:全血.斑点:名义型:
Synonyms: 众多 众多的 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 复合 复合的 多 多倍 多倍的 多元 多样 多样的 多种羧化酶缺陷;多羧化酶缺陷症;多羧酶缺乏;多种羧化酶缺陷病;MCD;多发性羧酶缺乏症;多种羧化酶缺乏;多重脱羧酵素缺乏 多路 多路的 多重 多重的 并联 并联的 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=73701-5