Version 2.77

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.
Source: Regenstrief LOINC

Fully-Specified Name

Component
Multiple carboxylase deficiency
Property
Imp
Time
Pt
System
Bld.dot
Scale
Nom
Method

Additional Names

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

Preferred Answer List: LL840-0

Source: Regenstrief Institute
Answer Code Score Answer ID
In range LA18592-8
Borderline LA4259-3
IndeterminateCopyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) LA11884-6
Out of range LA18593-6
Out of range requiring further dried blood spot testing for at least one condition LA12430-7
Out of range requiring immediate referral LA25817-0
Out of range requiring immediate second-tier testing for at least one condition LA12431-5
Out of range requiring deferred follow-up for at least one condition LA18594-4
One or more tests pending LA16204-2
Specimen unsatisfactory for at least one condition LA16205-9

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.44
Last Updated
Version 2.56
Change Reason
Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation
Observation

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Deficiencia múltiple a carboxilasa:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX Spanish (Mexico) Deficiencia múltiple de carboxilasa:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR French (France) Carboxylase carence multiple:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
it-IT Italian (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
pt-BR Portuguese (Brazil) Carboxilase múltipla deficiência::Pt:SgPapel:Nom:
ru-RU Russian (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-TR Turkish (Turkey) Çoklu karboksilaz eksikliği:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (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