Version 2.77

Part Description

LP56771-6   Biotinidase deficiency
The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN. Source: National Library of Medicine, MeSH 2006

Fully-Specified Name

Component
Biotinidase deficiency newborn screening comment-discussion
Property
Txt
Time
Pt
System
Bld.dot
Scale
Nar
Method

Additional Names

Short Name
BIOT NBS comment
Display Name
Biotinidase deficiency newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info
Biotinidase deficiency newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
19546

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8 Mucopolysaccharidosis type II newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Deficiencia de Biotinidasa screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX Spanish (Mexico) Comentario-discusión sobre el cribado neonatal por deficiencia de biotinidasa:Texto:Punto temporal:DBS:Narrativo:
fr-FR French (France) Biotinidase carence dépistage néonatal (commentaire/discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE French (Belgium) Déficit en biotinidase Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT Italian (Italy) Biotinidasi, deficit , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar:
Synonyms: Chimica Commento/discussione di screening neonatale per deficit di biotinidasi Deficit di biotinidasi Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL Dutch (Netherlands) biotinidasedeficiëntie screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
Synonyms: biotinidase deficientie
pt-BR Portuguese (Brazil) Deficiência de biotinidase na triagem neonatal comentários-discussão:#N/A:Pt:SgPapel:Nar:
Synonyms: Remarks; BIOT NBS comment/discussion; Text; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Narrative; Report; SCN; Asymptomatic; Asympt; New born; Com; Comm; Commt; Comments; cmnt; cmmt; Chemistry
ru-RU Russian (Russian Federation) Биотинидаза недостаточность новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис:
Synonyms: Кровь Кровь сухая капля Недостаточность биотинидазы Описательный Текст Точка во времени;Момент
tr-TR Turkish (Turkey) Biyotinidaz yetmezliği yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN Chinese (China) 生物素化物酶缺陷 新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型:
Synonyms: Asympt BIOT SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 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 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 备注 备注;评论;注解;说明;评语 意见 文本;文本型;文本属性 新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论 无症状 无症状（Asymptomatic，Asympt） 无症状的 无症状筛查 时刻;随机;随意;瞬间 普查 普查试验 注解 生物素酶缺陷新生儿筛查注释/讨论 短评 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 血;血液 解说 解释 评定 评注 评论 评语 说明

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=57699-1