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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:Imp:Pt:Bld.dot:Nom:
Long Common Name
Biotinidase deficiency newborn screen interpretation
Short Name
BIOT DBS-Imp
Display Name
Biotinidase deficiency (DBS) [Interp]
Consumer Name Alpha Get Info
Biotinidase deficiency, Dried blood spot

Part Model Get Info

  • Component
    Biotinidase deficiency
    LP56771-6
    • Analyte
      Biotinidase deficiency
      LP56771-6
      • Component Numerator
        Biotinidase deficiency
        LP56771-6
        • Component Numerator Core
          Biotinidase deficiency
          LP56771-6
        • 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 2.19
Last Updated
Version 2.73 (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
Common Test Rank Get Info
5014

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:Interpretace:Časový bod:Suchá krevní kapka (DBS):Nominální:
el-GRGreek (Greece)Ανεπάρκεια βιοτινιδάσης:Imp:Pt:Bld.dot:Nom:
Synonyms: Bld.dot CHEM Imp Nom Pt Αίμα Ανεπάρκεια βιοτινιδάσης Βιοτινιδάση
es-ESSpanish (Spain)Deficiencia de Biotinidasa:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MXSpanish (Mexico)Deficiencia de biotinidasa:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-CAFrench (Canada)Déficit en biotinidase:Impression:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-FRFrench (France)Biotinidase carence:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BEFrench (Belgium)Déficit en biotinidase:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-ITItalian (Italy)Biotinidasi, deficit:Imp:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Deficit di biotinidasi Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NLDutch (Netherlands)biotinidasedeficiëntie:interpretatie:moment:gedroogde bloedspot:nominaal:
Synonyms: biotinidase deficientie
pl-PLPolish (Poland)Niedobór biotynidazy:ocena:punkt w czasie:sucha kropla krwi:skala nominalna:
Synonyms: wynik kategorialny
pt-BRPortuguese (Brazil)Deficiência de Biotinidase:Imp:Pt:SgPapel:Nom:
Synonyms: ; BIOT; Interpretation; Interp; Impression; Impressions; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; Chemistry
ru-RURussian (Russian Federation)Биотинидаза недостаточность:Впчт:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Недостаточность биотинидазы Номинальный;Именной Точка во времени;Момент
tr-TRTurkish (Turkey)Biyotinidaz yetmezliği:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CNChinese (China)生物素化物酶缺陷:印象:时间点:全血.斑点:名义型:
Synonyms: BIOT 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 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=46761-3