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Term Description

Human Genome Variation Society (HGVS) nomenclature for conveying an alteration to the associated reference sequences used to define the genome as a basis for comparison with actual results.

LOINC Names Get Info

Fully-Specified Name
Reference sequence alteration:Prid:Pt:Bld/Tiss:Nom:Molgen
Long Common Name
Reference sequence alteration [Identifier]
Short Name
Ref sequence alteration
Display Name
Reference sequence alteration Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Reference sequence alteration, Blood or tissue specimen

Part Model Get Info

  • Component
    Reference sequence alteration
    LP69979-0
    • Analyte
      Reference sequence alteration
      LP69979-0
      • Component Numerator
        Reference sequence alteration
        LP69979-0
        • Component Numerator Core
          Reference sequence alteration
          LP69979-0
        • 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
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.68 (MIN)
Order vs. Observation
Observation

Member of these Panels

LOINCLong Common Name
53042-8DNA marker assessed panel
53044-4DNA marker identified panel
51960-3DNA marker results panel
48015-2Individual allele panel
51975-1Individual allele results panel

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Referenční sekvence změna:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Τροποποίηση ακολουθίας αναφοράς:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: HL7.GENETICS Nom Prid Pt Αίμα Αίμα/Ιστός Ακολουθία αναφοράς Ιστός Μοριακή γενετική Τροποποίηση ακολουθίας αναφοράς
es-ESSpanish (Spain)Alteración de la secuencia de referencia:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Alteración de la secuencia de referencia:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)Séquence de référence altération:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)Sequenza di riferimento, alterazione:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Alterazione di sequenza di riferimento Genetica molecolare Presenza o Identità Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)referentie sequentie wijziging:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pl-PLPolish (Poland)Zmiana sekwencji referencyjnej:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna wynik kategorialny
pt-BRPortuguese (Brazil)Referência alteração da seqüência:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; Ref sequence alteration; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RURussian (Russian Federation)Референсная последовательность альтерация:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)Referans sekans değişmesi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)参考序列改变: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: 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 参考序列变更;参考序列变化;参考序列改动;参考序列更改 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=53045-1