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LOINC Names Get Info

Fully-Specified Name
ASPA gene.p.Tyr231Ter:PrThr:Pt:Bld/Tiss:Ord:Molgen
Long Common Name
ASPA gene p.Tyr231Ter [Presence] in Blood or Tissue by Molecular genetics method
Short Name
ASPA p.Y231X Bld/T Ql
Display Name
ASPA gene p.Tyr231Ter Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
ASPA gene p.Tyr231Ter, Blood or tissue specimen

Part Model Get Info

  • Component
    ASPA gene.p.Tyr231Ter
    LP33170-9
    • Analyte
      ASPA gene.p.Tyr231Ter
      LP33170-9
      • Component Numerator
        ASPA gene.p.Tyr231Ter
        LP33170-9
        • Component Numerator Core
          ASPA gene.p.Tyr231Ter
          LP33170-9
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    PrThr
    LP217195-9
  • 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 2.13
Last Updated
Version 2.56 (MIN)
Change Reason
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 ASPA p.Tyr231Ter:Přítomnost nebo práh:Časový bod:Krev/tkáň:Ordinální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο ASPA p.Tyr231Ter:PrThr:Pt:Αίμα/Ιστός:Ord:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Ord P PrThr Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο ASPA Γονίδιο ASPA p.Tyr231Ter Ιστός Μοριακή γενετική
es-ARSpanish (Argentina)determinación de las mutaciones del gen ASPA:arbitrario:punto en el tiempo:tejido, no especificado:ordinal:genética molecular
es-ESSpanish (Spain)Gen ASPA p.Y231X:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MXSpanish (Mexico)ASPA gene.p.Tyr231Ter:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FRFrench (France)ASPA gène p.Tyr231Ter:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)ASPA, gene.p.Tyr231Ter:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene ASPA Gene ASPA p.Tyr231Ter Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KRKorean (Korea, Republic Of)ASPA 유전자.p.Y231X:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NLDutch (Netherlands)ASPA-gen.p.Y231X:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: ASPA gen ASPA gen.p.Y231X molgen
pl-PLPolish (Poland)ASPA gen.p.Tyr231Ter:granica wykrywalności:punkt w czasie:krew lub tkanka:uporządkowany:genetyka molekularna
Synonyms: diagnostyka molekularna Gen ASPA Gen ASPA p.Tyr231Ter
pt-BRPortuguese (Brazil)ASPA gene.p.Y231X:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; ASPA p.Y231X; Tyr231Ter; Aspartoacylase gene; Canavan disease; Aminoacylase 2; Asp; ACY2; ACY-2; 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)ASPA ген.p.Y231X:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)ASPA geni.p.Y231X:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CNChinese (China)ASPA 基因.p.Y231X:存在情况或阈值:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: ACY2;ACY-2;Asp;Canavan 氏病;Canavan 病;加纳万病;嘉拿芬病;天冬氨酸酰化酶基因;氨酰化酶 2;氨酰基化酶 2;氨酰基转移酶 2;白质海绵状变性病 ASPA p.Y231X;Tyr231Ter P 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 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 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=35340-9