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Status Information

Status
DEPRECATED
Reason
Duplicate
Map-ToLong Common NameMapping Guidance
21696-0HFE gene p.His63Asp [Presence] in Blood or Tissue by Molecular genetics method

LOINC Names Get Info

Fully-Specified Name
HFE gene.c.187C>G:Arb:Pt:Bld/Tiss:Ord:Molgen
Long Common Name
Deprecated HFE gene c.187C>G [Presence] in Blood or Tissue by Molecular genetics method
Short Name
Deprecated HFE c.187C>G Bld/T Ql
Display Name
HFE gene c.187C>G Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
HFE gene c.187C>G, Blood or tissue specimen

Part Model Get Info

  • Component
    HFE gene.c.187C>G
    LP62768-4
    • Analyte
      HFE gene.c.187C>G
      LP62768-4
      • Component Numerator
        HFE gene.c.187C>G
        LP62768-4
        • Component Numerator Core
          HFE gene.c.187C>G
          LP62768-4
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Arb
    LP6781-1
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Ord
    LP7751-3
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.40 (DEL)
Change Reason
Changed Component part from p.C187G to c.187C>G since variant is described at coding level and to harmonize with HGVS nomenclature guidelines.
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen HFE c.187C>G:Arbitrární:Časový bod:Krev/tkáň:Ordinální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο HFE.c.187C>G:Arb:Pt:Αίμα/Ιστός:Ord:Μοριακή γενετική
Synonyms: Arb C G MOLPATH MOLPATH.MUT Ord Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο HFE Γονίδιο HFE.c.187C>G Ιστός Μοριακή γενετική
es-ESSpanish (Spain)Gen proteína C187G de Hemocromatosis Hereditaria:Arbitrario:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MXSpanish (Mexico)Gen HFE c.187C> G:Arbitrario:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
it-ITItalian (Italy)HFE, gene.c.187C>G:Arb:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Arbitrario Gene HFE Gene HFE c.187C>G Genetica molecolare Mutazione genica Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)HFE-gen.c.187C>G:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: HFE gen HFE gen.c.187C>G molgen
pl-PLPolish (Poland)HFE gen.c.187C>G:jednostka umowna:punkt w czasie:krew lub tkanka:uporządkowany:genetyka molekularna
Synonyms: diagnostyka molekularna Gen HFE Gen HFE c.187C>G
pt-BRPortuguese (Brazil)HFE gene.p.C187G:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; HFE p.C187G; HLAH; HH; Hereditary hemochromatosis; Haemochromatosis; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; P prime; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)HFE ген.c.187C>G:Произв:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Произвольный Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)HFE geni.c.187C>G:Sç:Zmlı:Kan/Dk:Srl:Molgen
zh-CNChinese (China)HFE 基因.c.187C>G:任意型:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: C 型;丙;丙型 G 型 HFE p.C187G HH;HLAH;色素性肝硬变;血色沉着;血色沉着病;血色病;血色素沉着;血色素沉着病;血色素沉着症;遗传性色素性肝硬变;遗传性血色沉着;遗传性血色沉着病;遗传性血色病;遗传性血色素沉着;遗传性血色素沉着病;遗传性青铜色糖尿病;青铜色糖尿病 任意;任意的;人工型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 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 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=48579-7