Version 2.78

Status Information

Status
DEPRECATED
Reason
Duplicate
Map-To Long Common Name Mapping Guidance
41053-0 SMN1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal

Fully-Specified Name

Component
SMA@ gene mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Deprecated SMA@ gene Mut Anal Bld/T
Display Name
SMA@ gene mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
SMA@ gene Mutation Analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.15
Last Updated
Version 2.36
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Análisis de mutación genética SMA @:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
it-IT Italian (Italy) Analisi della mutazione del gene SMA@:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene SMA@ Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) SMA@ 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
pt-BR Portuguese (Brazil) SMA@ análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
zh-CN Chinese (China) SMA 基因突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: Kugelberg-Welander 病;SMA 基因;Werdnig-Hoffmann 病;少年型家族性进行性脊肌萎缩症;少年型脊肌萎缩症;脊肌萎缩症 Spinal muscular atrophy;SMA;脊髓性肌萎缩;脊髓性肌肉萎缩症;脊髓性肌萎缩症;脊髓肌肉萎缩症;SMA@ 基因突变分析 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 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 存在;存在与否;特征标识;身份;身份标识 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=41054-8