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Part Description

LP14296-5   Beta-N-acetylhexosaminidase.A
Beta-hexosaminidase subunit alpha (HEXA) is responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues.[UniProt: P06965] Reduced or absent levels of HEXA and accumulation of GM2 gangliosides in the neuronal cells is characteristic of GM2-gangliosidosis 1 (GM2G1), and autosomal recessive lysosomal storage disease that leads to neurodegeneration and, in the infantile form, death in early childhood.[OMIM: 272800] Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
Beta-N-acetylhexosaminidase.A:PrThr:Pt:Tiss:Ord:
Long Common Name
Beta-N-acetylhexosaminidase.A [Presence] in Tissue
Short Name
Hexosaminidase A Tiss Ql
Display Name
Beta-N-acetylhexosaminidase.A Ql (Tiss)
Consumer Name Alpha Get Info
Beta-N-acetylhexosaminidase.A, Tissue

Part Model Get Info

  • Component
    Beta-N-acetylhexosaminidase.A
    LP14296-5
    • Analyte
      Beta-N-acetylhexosaminidase.A
      LP14296-5
      • Component Numerator
        Beta-N-acetylhexosaminidase.A
        LP14296-5
        • Component Numerator Core
          Beta-N-acetylhexosaminidase.A
          LP14296-5
        • 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
    Tiss
    LP7641-6
    • System Core
      Tiss
      LP7641-6
    • Super System
      NULL
       
  • Scale
    Ord
    LP7751-3
  • Method
    NULL
     

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 1.0l
Last Updated
Version 2.56 (MIN)
Change Reason
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)Beta-N-acetylhexosaminidáza.A:Přítomnost nebo práh:Časový bod:Tkáně a stěry:Ordinální:
el-GRGreek (Greece)β-N-ακετυλοεξοζαμινιδάση.Α:PrThr:Pt:Ιστός:Ord:
Synonyms: A CHEM N Ord PrThr Pt β-N-ακετυλοεξοζαμινιδάση β-N-ακετυλοεξοζαμινιδάση.Α Ιστός
es-ARSpanish (Argentina)beta-N-acetilhexosaminidasa.A:contenido arbitrario:punto en el tiempo:tejido, no especificado:ordinal:
es-ESSpanish (Spain)Beta-N-acetilhexosaminidasa.A:PrThr:Punto temporal:Tejido:Ord:
es-MXSpanish (Mexico)Beta-N-acetilhexosaminidasa.A:Presencia o umbral:Punto temporal:Tejido y frotis:Ordinal:
et-EEEstonian (Estonia)Beeta-N-atsetüülheksosaminidaas.A:PrThr:Pt:Tis:Ord:
Synonyms: Järgarvuline Juhuslik Kude
fr-CAFrench (Canada)Bêta-N-acétylhexosaminidase.A:Présence-Seuil:Temps ponctuel:Tissu:Ordinal:
fr-FRFrench (France)Bêta N-hexosaminidase A:Présence/Seuil:Ponctuel:Tissu:Qualitatif:
fr-BEFrench (Belgium)Béta-N-acétylhexosaminidase.A:PrThr:Temps ponctuel:Tissu:Ordinal:
it-ITItalian (Italy)Beta-N-acetilesosaminidasi.A:PrThr:Pt:Tessuto:Ord:
Synonyms: Chimica Presenza o Soglia Punto nel tempo (episodio) Tessuto & Strisci
ko-KRKorean (Korea, Republic Of)베타-N-아세틸헥소스아미니다아제.A:임의구성:검사시점:조직:순위척도:
nl-NLDutch (Netherlands)bèta-N-acetylhexosaminidase.A:aanwezigheid:moment:weefsel en uitstrijkjes:ordinaal:
Synonyms: Beta-N-acetylhexosaminidase Beta-N-acetylhexosaminidase.A
pl-PLPolish (Poland)Beta-N-acetyloheksoaminidaza.A:granica wykrywalności:punkt w czasie:tkanka i rozmazy:uporządkowany:
Synonyms: N-acetylo-beta-heksozoaminidaza A
pt-BRPortuguese (Brazil)Beta-N-acetilhexosaminidase A:ACnt:Pt:Tecido:Ord:
Synonyms: ; Hexosaminidase A; Sandoff disease; Hex A; B-NAH; GM2-gangliosidosis; Arbitrary content; Point in time; Random; Tissue; Ql; Ordinal; QL; Qualitative; Qual; Screen; B; Chemistry
ru-RURussian (Russian Federation)Бета-N-Ацетилгексозаминидаза.А:PrThr:ТчкВрм:Тк:Пор:
Synonyms: Порядковый Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)Beta-N-asetilhekzosaminidaz.A:MevcEşik:Zmlı:Doku:Srl:
Synonyms: Mevcut
zh-CNChinese (China)Beta-N-乙酰己糖胺酶.A:存在情况或阈值:时间点:组织与涂片:序数型:
Synonyms: A 型 B Beta-N-乙酰己糖胺酶 A;Beta-N-乙酰氨基己糖苷酶 A;Beta-N-乙酰氨基己糖苷酶.A;Hex A;Sandoff 氏病;Sandoff 病;β-N-乙酰己糖胺酶 A;β-N-乙酰己糖胺酶.A;β-N-乙酰氨基己糖苷酶 A;β-N-乙酰氨基己糖苷酶.A;己糖胺酶 A;己糖胺酶.A;氨基己糖苷酶 A;氨基己糖苷酶.A Beta-N-乙酰氨基己糖苷酶;B-NAH;GM2-神经节苷脂沉积症;GM2-神经节苷脂贮积病;β-N-乙酰己糖胺酶;β-N-乙酰氨基己糖苷酶;己糖胺酶;氨基己糖苷酶 N 型 β 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 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 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 贝塔

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=18196-6