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LOINC Names Get Info

Fully-Specified Name
VWF gene.p.Thr791Met:PrThr:Pt:Bld:Ord:Molgen
Long Common Name
VWF gene.p.Thr791Met [Presence] in Blood by Molecular genetics method
Short Name
VWF p.T791M Bld Ql
Display Name
VWF gene.p.Thr791Met Molgen Ql (Bld)
Consumer Name Alpha Get Info
VWF gene p.Thr791Met, Blood

Part Model Get Info

  • Component
    VWF gene.p.Thr791Met
    LP35747-2
    • Analyte
      VWF gene.p.Thr791Met
      LP35747-2
      • Component Numerator
        VWF gene.p.Thr791Met
        LP35747-2
        • Component Numerator Core
          VWF gene.p.Thr791Met
          LP35747-2
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    PrThr
    LP217195-9
  • Time
    Pt
    LP6960-1
  • System
    Bld
    LP7057-5
    • System Core
      Bld
      LP7057-5
    • Super System
      NULL
       
  • Scale
    Ord
    LP7751-3
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.15
Last Updated
Version 2.56 (MIN)
Change Reason
According to OMIM (2012), the mutation originally designated as Thr28Met (T28M) is now designated Thr791Met (T791M). Changed Component name to align with the current HGVS recommendations to use the three letter codes for amnio acids. In the shortname, we kept the single letter codes.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen VWF.p.Thr791Met:Přítomnost nebo práh:Časový bod:Krev:Ordinální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο VWF p.Thr791Met:PrThr:Pt:Αίμα:Ord:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Ord P PrThr Pt Αίμα Γονίδιο Γονίδιο VWF Γονίδιο VWF p.Thr791Met Μοριακή γενετική
es-ESSpanish (Spain)Gen VWF p.Thr791Met:PrThr:Punto temporal:Sangre:Ord:Genética molecular
es-MXSpanish (Mexico)Gen del FvW p. Thr791Met:Presencia o umbral:Punto temporal:Sangre:Ordinal:Genética molecular
fr-FRFrench (France)VWF gène p.Thr791Met:Présence/Seuil:Ponctuel:Sang:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)VWF, gene.p.Thr791Met:PrThr:Pt:Sangue:Ord:Molgen
Synonyms: Gene VWF Gene VWF p.Thr791Met Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue
ko-KRKorean (Korea, Republic Of)VWF 유전자.P.T28M:임의적분:검사시점:전혈:순위척도:분자유전
nl-NLDutch (Netherlands)VWF-gen.p.T791M:aanwezigheid:moment:bloed:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen VWF gen VWF gen.p.T791M
pl-PLPolish (Poland)VWF gen.p.Thr791Met:granica wykrywalności:punkt w czasie:krew:uporządkowany:genetyka molekularna
Synonyms: diagnostyka molekularna Gen VWF Gen VWF p.Thr791Met
pt-BRPortuguese (Brazil)VWF gene.p.T28M:Arb:Pt:SgTotal:Ord:Genética molecular
Synonyms: ; VWF p.T28M; von Willebrand Factor gene; F8VWF; VWD; Arbitrary; Point in time; Random; 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)VWF ген.p.T791M:PrThr:ТчкВрм:Кр:Пор:МолГен
Synonyms: Кровь Порядковый Точка во времени;Момент
tr-TRTurkish (Turkey)VWF geni.p.T791M:MevcEşik:Zmlı:Kan:Srl:Molgen
Synonyms: Mevcut
zh-CNChinese (China)VWF 基因.p.T28M:存在情况或阈值:时间点:全血:序数型:分子遗传学类实验室方法
Synonyms: F8VWF;von Willebrand 因子基因;VWD;血管性血友病因子基因 P 型 VWF p.T28M 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 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 血;血液 遗传基因;遗传因子;吉恩;生物基因

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CodeSystem lookup
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