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Status Information

Status
TRIAL

Term Description

This term is used to report the formal name of a simple variant, including the reference sequence and nucleotide change. For example, NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys) represents an ACAD9 gene variant with nucleotide change c.1249C>T and protein change p.Arg417Cys that has the NCBI reference sequence NM_014049.4. http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/

LOINC Names Get Info

Fully-Specified Name
Simple variant name:Find:Pt:^Patient:Nom:
Long Common Name
Simple variant name Nominal
Short Name
Simple var name
Display Name
Simple variant name Nom
Consumer Name Alpha Get Info
Simple variant name

Part Model Get Info

  • Component
    Simple variant name
    LP212305-9
    • Analyte
      Simple variant name
      LP212305-9
      • Component Numerator
        Simple variant name
        LP212305-9
        • Component Numerator Core
          Simple variant name
          LP212305-9
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    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 2.56 (MIN)
Order vs. Observation
Observation

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Jednoduchá varianta název:Nález:Časový bod:^Pacient:Nominální:
el-GRGreek (Greece)Όνομα απλής παραλλαγής:Εύρεση:Pt:^Ασθενής:Nom:
Synonyms: - MOLPATH Nom Pt Απλή παραλλαγή Ασθενής Εύρεση Όνομα Όνομα απλής παραλλαγής
es-ESSpanish (Spain)Nombre de la variante simple:Hallazgo:Punto temporal:^paciente:Nom:
es-MXSpanish (Mexico)Nombre de variante simple:Hallazgo:Punto temporal:^ Paciente:Nominal:
fr-FRFrench (France)Variant simple nom:Recherche:Ponctuel:^patient:Résultat nominal:
it-ITItalian (Italy)Nome della variante semplice:Osservazione:Pt:^Paziente:Nom:
Synonyms: Osservazione Patologia molecolare paziente Punto nel tempo (episodio)
zh-CNChinese (China)简单变异命名:发现:时间点:^患者:名义型:
Synonyms: 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 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 姓名;名字;名 时刻;随机;随意;瞬间 简单变异命名（名称）;简单遗传性变异（遗传变异、基因变异、传性变型、遗传变异体、基因变异体）命名（名称） 简单遗传性变异（遗传变异、基因变异、传性变型、遗传变异体、基因变异体）

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=81253-7