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Status Information

Status
DEPRECATED
Reason
Duplicate
Map-ToLong Common NameMapping Guidance
41053-0SMN1 gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal

LOINC Names Get Info

Fully-Specified Name
SMA@ gene mutation analysis:Prid:Pt:Bld/Tiss:Nom:Molgen
Long Common Name
Deprecated SMA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
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

Part Model Get Info

  • Component
    SMA@ gene mutation analysis
    LP269113-9
    • Analyte
      SMA@ gene mutation analysis
      LP269113-9
      • Component Numerator
        SMA@ gene mutation analysis
        LP269113-9
        • Component Numerator Core
          SMA@ gene mutation analysis
          LP269113-9
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Prid
    LP6850-4
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Molgen
    LP6404-0

Basic Attributes

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

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen SMA@ mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Ανάλυση γονιδιακής μετάλλαξης SMA@:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Ανάλυση γονιδιακής μετάλλαξης SMA@ Γονίδιο Ιστός Μοριακή γενετική
es-MXSpanish (Mexico)Análisis de mutación genética SMA @:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
it-ITItalian (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-KRKorean (Korea, Republic Of)SMA@ 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
pl-PLPolish (Poland)Analiza mutacji genu SMA@:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genu rdzeniowego zaniku mięśni (SMA) diagnostyka molekularna wynik kategorialny
pt-BRPortuguese (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-CNChinese (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