Version 2.78

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
Property
Imp
Time
Pt
System
Bld.dot
Scale
Nom
Method

Additional Names

Short Name
BIOT DBS-Imp
Display Name
Biotinidase deficiency (DBS) [Interp]
Consumer Name Alpha Get Info
Biotinidase deficiency, 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 2.19
Last Updated
Version 2.73
Change Reason
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

LOINC Long Common Name
57087-9 Biotinidase newborn screening panel
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency 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:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX Spanish (Mexico) Deficiencia de biotinidasa:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-CA French (Canada) Déficit en biotinidase:Impression:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-FR French (France) Biotinidase carence:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE French (Belgium) Déficit en biotinidase:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT Italian (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-NL Dutch (Netherlands) biotinidasedeficiëntie:interpretatie:moment:gedroogde bloedspot:nominaal:
Synonyms: biotinidase deficientie
pt-BR Portuguese (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-RU Russian (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-TR Turkish (Turkey) Biyotinidaz yetmezliği:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (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