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Term Description

Human Genome Variation Society (HGVS) nomenclature for an amino acid sequence. This value is derivable from the DNA Marker value if available. It is provided for convenience. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.

LOINC Names Get Info

Fully-Specified Name
Amino acid change:Find:Pt:Bld/Tiss:Nom:Molgen
Long Common Name
Amino acid change (pHGVS)
Short Name
Amino acid change
Display Name
Amino acid change Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Amino acid change, Blood or tissue specimen

Part Model Get Info

  • Component
    Amino acid change
    LP62062-2
    • Analyte
      Amino acid change
      LP62062-2
      • Component Numerator
        Amino acid change
        LP62062-2
        • Component Numerator Core
          Amino acid change
          LP62062-2
        • 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
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.73 (MIN)
Change Reason
Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Observation
Common Test Rank Get Info
4958

Member of these Panels

LOINCLong Common Name
53042-8DNA marker assessed panel
53044-4DNA marker identified panel
51960-3DNA marker results panel
55233-1Genetic analysis master panel
48015-2Individual allele panel
51975-1Individual allele results panel
81247-9Master HL7 genetic variant reporting panel
48014-5Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Aminokyselina změna:Nález:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Αλλαγή αμινοξέων:Εύρεση:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: HL7.GENETICS Nom Pt Αίμα Αίμα/Ιστός Αλλαγή αμινοξέων Εύρεση Ιστός Μοριακή γενετική
es-ESSpanish (Spain)cambio aminoacídico:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Cambio de aminoácidos:Hallazgo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)Acides aminés substitués:Recherche:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)Aminoacido, cambio:Osservazione:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Cambio di aminoacido Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)aminozuurwijziging:bevinding:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pl-PLPolish (Poland)Zmiana aminokwasu:stwierdzenie:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna wynik kategorialny
pt-BRPortuguese (Brazil)Mudança de amino ácido:Achado:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Finding; Findings; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Exchange; Replace; Acd; Acids; MOLPATH.GENERAL
ru-RURussian (Russian Federation)Аминокислота изменение:Находка:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)Amino asit değişimi:Bulgu:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)氨基酸变化:发现:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 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 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 时刻;随机;随意;瞬间 替换 未作说明的组织;组织;组织 & 涂片 置换 血;血液 酸

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=48005-3