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LOINC Names Get Info

Fully-Specified Name
HEXA gene.c.IVS12+1G>C:PrThr:Pt:Bld/Tiss:Ord:Molgen
Long Common Name
HEXA gene c.IVS12+1G>C [Presence] in Blood or Tissue by Molecular genetics method
Short Name
HEXA .c.IVS12+1G>C Bld/T Ql
Display Name
HEXA gene c.IVS12+1G>C Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
HEXA gene c.IVS12+1G>C, Blood or tissue specimen

Part Model Get Info

  • Component
    HEXA gene.c.IVS12+1G>C
    LP33201-2
    • Analyte
      HEXA gene.c.IVS12+1G>C
      LP33201-2
      • Component Numerator
        HEXA gene.c.IVS12+1G>C
        LP33201-2
        • Component Numerator Core
          HEXA gene.c.IVS12+1G>C
          LP33201-2
        • 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/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 part from g.GIVS12C to c.IVS12+1G>C since variant is described at coding level and to harmonize with HGVS nomenclature guidelines.; 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 HEXA c.IVS12+1G>C:Přítomnost nebo práh:Časový bod:Krev/tkáň:Ordinální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο HEXA.c.IVS12+1G>C:PrThr:Pt:Αίμα/Ιστός:Ord:Μοριακή γενετική
Synonyms: C MOLPATH MOLPATH.MUT Ord PrThr Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο HEXA Γονίδιο HEXA.c.IVS12+1G>C Ιστός Μοριακή γενετική
es-ARSpanish (Argentina)xilosa^1 hora después de la administración de 25 g de xilosa por vía oral:arbitrario:punto en el tiempo:tejido, no especificado:ordinal:
es-ESSpanish (Spain)Gen HEXA c.IVS12+1G>C:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MXSpanish (Mexico)Gen HEXA c. IVS12 + 1G> C:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FRFrench (France)HEXA gène mutations c.IVS12+1G>C:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)HEXA, gene.c.IVS12+1G>C:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene HEXA Gene HEXA c.IVS12+1G>C Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KRKorean (Korea, Republic Of)HEXA 유전자.g.GIVS12C:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NLDutch (Netherlands)HEXA-gen.c.IVS12+1G>C:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: HEXA gen HEXA gen.c.IVS12+1G>C molgen
pl-PLPolish (Poland)HEXA gen.c.IVS12+1G>C:granica wykrywalności:punkt w czasie:krew lub tkanka:uporządkowany:genetyka molekularna
Synonyms: diagnostyka molekularna Gen HEXA Gen HEXA c.IVS12+1G>C
pt-BRPortuguese (Brazil)HEXA gene.g.GIVS12C:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; HEXA g.GIVS12C; Tay-Sachs disease; hexosaminidase A (alpha polypeptide) gene; N-acetyl-beta-glucosaminidase gene; TSD; beta-N-acetylhexosaminidase gene; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)HEXA ген.c.IVS12+1G>C:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)HEXA geni.c.IVS12+1G>C:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CNChinese (China)HEXA 基因.c.IVS12+1G>C: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: beta-N-乙酰己糖胺酶基因;beta-N-乙酰氨基已糖苷酶基因;N-乙酰基-beta-己糖胺酶基因;N-乙酰基-beta-氨基葡糖苷酶基因;N-乙酰基-β-己糖胺酶基因;N-乙酰基-β-氨基葡糖苷酶基因;Tay-Sachs 氏病;Tay-Sachs 氏症;Tay-Sachs 病;Tay-Sachs 症;TSD;β-N-乙酰己糖胺酶基因;β-N-乙酰氨基已糖苷酶基因;己糖胺酶 A (alpha 多肽)基因;己糖胺酶 A (α多肽)基因;氨基已糖苷酶 A (alpha 多肽)基因;氨基已糖苷酶 A (α多 C 型;丙;丙型 HEXA g.GIVS12C 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=35381-3