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Status Information

Status
TRIAL

Term Description

The name of a structural variant reported using HGVS nomenclature.

LOINC Names Get Info

Fully-Specified Name
Genomic DNA change:Find:Pt:^Patient:Nom:
Long Common Name
Genomic DNA change (gHGVS)
Short Name
Struct var HGVS name
Display Name
Genomic DNA change (g.HGVS) Nom
Consumer Name Alpha Get Info
Genomic DNA Change (g.HGVS)

Part Model Get Info

  • Component
    Genomic DNA change
    LP212312-5
    • Analyte
      Genomic DNA change
      LP212312-5
      • Component Numerator
        Genomic DNA change
        LP212312-5
        • Component Numerator Core
          Genomic DNA change
          LP212312-5
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Find
    LP6813-2
  • Time
    Pt
    LP6960-1
  • System
    ^Patient
    LP310005-6
    • System Core
      NULL
       
    • Super System
      Patient
      LP6985-8
  • Scale
    Nom
    LP7750-5
  • Method
    NULL
     

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58 (NAM)
Order vs. Observation
Observation

Member of these Panels

LOINCLong Common Name
81247-9Master HL7 genetic variant reporting panel

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Genom DNA změna:Nález:Časový bod:^Pacient:Nominální:
el-GRGreek (Greece)Αλλαγή γονιδιωματικού DNA:Εύρεση:Pt:^Ασθενής:Nom:
Synonyms: - DNA MOLPATH Nom Pt Αλλαγή DNA Αλλαγή γονιδιωματικού DNA Ασθενής Εύρεση
es-ESSpanish (Spain)Nombre de la variante estructural HGVS:Hallazgo:Punto temporal:^paciente:Nom:
es-MXSpanish (Mexico)Cambio de ADN genómico:Hallazgo:Punto temporal:^ Paciente:Nominal:
fr-FRFrench (France)Variation ADN génomique:Recherche:Ponctuel:^patient:Résultat nominal:
it-ITItalian (Italy)Variante strutturale nome HGVS:Osservazione:Pt:^Paziente:Nom:
Synonyms: Cambio di DNA Osservazione Patologia molecolare paziente Punto nel tempo (episodio)
pl-PLPolish (Poland)Zmiana w genomowym DNA:stwierdzenie:punkt w czasie:^pacjent:skala nominalna:
Synonyms: Kwas deoksyrybonukleinowy wynik kategorialny Zmiana w sekwencji genomowego DNA
zh-CNChinese (China)基因组 DNA 变化:发现:时间点:^患者:名义型:
Synonyms: DNA 改变 分子病理学;分子病理学试验 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 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸（Deoxyribonucleic acid，DNA） 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 基因组 DNA 变化（变异、变动、改变、变更、变异、变型、突变）;Genomic DNA change;gHGVS;结构性变异 HGVS 命名;结构性遗传性变异（遗传变异、基因变异、传性变型、遗传变异体、基因变异体） HGVS（Human Genome Variation Society、人类基因组变异协会、人类基因组突变协会） 命名（名称） 时刻;随机;随意;瞬间 替换 置换

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=81290-9