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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

LOINC Names Get Info

Fully-Specified Name
Biotinidase deficiency newborn screening comment-discussion:Txt:Pt:Bld.dot:Nar:
Long Common Name
Biotinidase deficiency newborn screening comment-discussion
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

Part Model Get Info

  • Component
    Biotinidase deficiency newborn screening comment-discussion
    LP97662-8
    • Analyte
      Biotinidase deficiency newborn screening comment-discussion
      LP97662-8
      • Component Numerator
        Biotinidase deficiency newborn screening comment-discussion
        LP97662-8
        • Component Numerator Core
          Biotinidase deficiency
          LP56771-6
        • Component Numerator Core Suffix
          newborn screening comment-discussion
          LP157894-9
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Txt
    LP6885-0
  • Time
    Pt
    LP6960-1
  • System
    Bld.dot
    LP21304-8
    • System Core
      Bld.dot
      LP21304-8
    • Super System
      NULL
       
  • Scale
    Nar
    LP7749-7
  • Method
    NULL
     

Basic Attributes

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

Member of these Panels

LOINCLong Common Name
57087-9Biotinidase newborn screening panel
54089-8Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Biotinidáza deficit novorozenecký screening:Text:Časový bod:Suchá krevní kapka (DBS):Narativní:
el-GRGreek (Greece)Ανεπάρκεια βιοτινιδάσης εξετάσεις διαλογής νεογνών, σχολιασμός-συζήτηση:Txt:Pt:Bld.dot:Nar:
Synonyms: Bld.dot CHEM Nar Pt Txt Αίμα Ανεπάρκεια βιοτινιδάσης Βιοτινιδάση εξετάσεις διαλογής νεογνών, σχολιασμός-συζήτηση Σχόλιο
es-ESSpanish (Spain)Deficiencia de Biotinidasa screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MXSpanish (Mexico)Comentario-discusión sobre el cribado neonatal por deficiencia de biotinidasa:Texto:Punto temporal:DBS:Narrativo:
fr-FRFrench (France)Biotinidase carence déficit dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BEFrench (Belgium)Déficit en biotinidase Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-ITItalian (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-NLDutch (Netherlands)biotinidasedeficiëntie screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
Synonyms: biotinidase deficientie
pl-PLPolish (Poland)Niedobór biotynidazy komentarz-dyskusja nad badaniami przesiewowymi noworodka:tekst:punkt w czasie:sucha kropla krwi:opisowy:
pt-BRPortuguese (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-RURussian (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-TRTurkish (Turkey)Biyotinidaz yetmezliği yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CNChinese (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