Version 2.78

Status Information

Status
DEPRECATED
Reason
Duplicate
Map-To Long Common Name Mapping Guidance
40872-4 CBS gene c.833T>C [Presence] in Blood or Tissue by Molecular genetics method

Fully-Specified Name

Component
CBS gene.p.I278T
Property
Arb
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
Deprecated CBS p.I278T Bld/T Ql
Display Name
CBS gene p.I278T Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
CBS gene p.I278T, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 1.0m
Last Updated
Version 2.40
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) gen CBS.P.I278T:arbitrario:punto en el tiempo:sangre entera/tejido:ordinal:genética molecular
es-ES Spanish (Spain) Gen CBS p.I278T:Arbitrario:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen CBS p. I278T:Arbitrario:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
it-IT Italian (Italy) CBS, gene.p.I278T:Arb:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Arbitrario Gene CBS Gene CBS p.I278T Genetica molecolare Mutazione genica Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) CBS 유전자.p.I278T:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) CBS-gen.p.I278T:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: CBS gen CBS gen.p.I278T molgen
pt-BR Portuguese (Brazil) CBS gene.p.I278T:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; CBS p.I278T; Ile278Thr; Pyridoxine responsive homocystinuria; Cystathionine-beta-synthase; HIP4; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; P prime; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) CBS ген.p.I278T:Произв:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Произвольный Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) CBS geni.p.I278T:Sç:Zmlı:Kan/Dk:Srl:Molgen
zh-CN Chinese (China) CBS 基因.p.I278T:任意型:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: CBS p.I278T;Ile278Thr HIP4;丙氨酸丁氨酸硫醚-beta-合酶;丙氨酸丁氨酸硫醚-β-合酶;吡哆醇反应性高胱氨酸尿症;胱硫醚-beta-合酶;胱硫醚-β-合酶 P 型 任意;任意的;人工型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=21648-1