29543-6

Beta-N-acetylhexosaminidase.A/Beta-n-acetylhexosaminidase.total in Amniotic fluid cells

Active

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/Beta-N-acetylhexosaminidase.total:CFr:Pt:Amnio fld cells:Qn:
Long Common Name: Beta-N-acetylhexosaminidase.A/Beta-n-acetylhexosaminidase.total in Amniotic fluid cells
Short Name: Hexosaminidase A CFr Amnc
Display Name: Beta-N-acetylhexosaminidase.A/Beta-n-acetylhexosaminidase.total (Amn fld cells) [Catalytic fraction]
Consumer Name Alpha Get Info: Beta-N-acetylhexosaminidase.A/Beta-n-acetylhexosaminidase.total, Amniotic fluid cells

Part Model Get Info

Component
Beta-N-acetylhexosaminidase.A/Beta-N-acetylhexosaminidase.total
LP285092-5
- Analyte
  Beta-N-acetylhexosaminidase.A/Beta-N-acetylhexosaminidase.total
  LP285092-5
  - Component Numerator
    Beta-N-acetylhexosaminidase.A
    LP14296-5
    - Component Numerator Core
      Beta-N-acetylhexosaminidase.A
      LP14296-5
    - Component Numerator Core Suffix
      NULL
  - Component Denominator
    Beta-n-acetylhexosaminidase.total
    LP31995-1
    - Component Denominator Core
      Beta-n-acetylhexosaminidase.total
      LP31995-1
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
CFr
LP6792-8
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Amnio fld cells
LP28432-0
- System Core
  Amnio fld cells
  LP28432-0
- Super System
  NULL
Scale
Qn
LP7753-9
Method
NULL

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.03
Last Updated: Version 2.70 (MIN)
Order vs. Observation: Observation

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Beta-N-acetylhexosaminidáza.A/beta-N-acetylhexosaminidáza.celková:Podíl katalytické aktivity:Časový bod:Buňky amniové tekutiny:Kvantitativní:
el-GR	Greek (Greece)	β-N-ακετυλοεξοζαμινιδάση.Α/β-N-ακετυλοεξοζαμινιδάση.ολική:CFr:Pt:Κύτταρα αμνιακού υγρού:Qn: Synonyms: A CFr CHEM N Pt Qn Αμνιακό υγρό β-N-ακετυλοεξοζαμινιδάση β-N-ακετυλοεξοζαμινιδάση.Α β-N-ακετυλοεξοζαμινιδάση.ολική Κύτταρα αμνιακού υγρού
es-AR	Spanish (Argentina)	beta-N-acetilhexosaminidasa.A/beta-N-acetilhexosaminidasa.total:fracción catalítica:punto en el tiempo:células en líquido amniótico:cuantitativo:
es-ES	Spanish (Spain)	Beta-N-acetilhexosaminidasa.A/Beta-n-acetilhexosaminidasa.total:Fracción Catalítica:Punto temporal:Células de líquido amniótico:Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Beta-N-acetilhexosaminidasa.A / Beta-N-acetilhexosaminidasa.total:Fracción catalítica:Punto temporal:Células de líquido amniótico:Cuantitativo:
et-EE	Estonian (Estonia)	Beeta-N-atsetüülheksosaminidaas.A/beeta-n-atsetüülheksosaminidaas.üld:CFr:Pt:Amnionivedeliku rakud:Qn: Synonyms: Amnionivedelik Juhuslik Kvantitatiivne
fr-CA	French (Canada)	Bêta-N-acétylhexosaminidase.A/Bêta-N-acétylhexosaminidase.totale:Fraction catalytique:Temps ponctuel:Cellules de liquide amniotique:Quantitatif:
fr-FR	French (France)	Bêta N-hexosaminidase A/bêta N-acétyl hexosaminidase totale:Fraction catalytique:Ponctuel:Cellules du liquide amniotique:Numérique:
fr-BE	French (Belgium)	Béta-N-acétylhexosaminidase.A/Bèta-N-acétylhexosaminidase.totale:Fraction catalytique:Temps ponctuel:Cellules de liquide amniotique:Quantitatif:
it-IT	Italian (Italy)	Beta-N-acetilesosaminidasi.A/Beta-N-acetilesosaminidasi.totale:CFr:Pt:Liquido amniotico, cellule:Qn: Synonyms: Cellule di liquido amniotico Chimica Frazione Catalitica Liquido amniotico Punto nel tempo (episodio)
ko-KR	Korean (Korea, Republic Of)	베타-N-아세틸헥소스아미니다아제.A/총베타-N-아세틸헥소스아미니다아제:촉매분획:검사시점:양수세포:정량:
nl-NL	Dutch (Netherlands)	bèta-N-acetylhexosaminidase.A/bèta-n-acetylhexoaminidase.totaal:enzymatische fractie:moment:vruchtwatercellen:kwantitatief: Synonyms: Beta-N-acetylhexosaminidase Beta-N-acetylhexosaminidase.A
pl-PL	Polish (Poland)	Beta-N-acetyloheksoaminidaza.A/N-acetylo-β-D-heksozoaminidaza:frakcja katalityczna:punkt w czasie:komórki płynu owodniowego:ilościowy: Synonyms: N-acetylo-beta-heksozoaminidaza A
pt-BR	Portuguese (Brazil)	Beta-N-acetilhexosaminidase.A/Beta-N-acetilhexosaminidase.total:CFr:Pt:Células de líquido amniótico:Qn: Synonyms: ; Hexosaminidase A; Sandoff disease; Hex A; B-NAH; GM2-gangliosidosis; Fr; Catalytic Fraction; Percent; Point in time; Random; Amnc; Amniotic fluid cells; Amn fl; Amniotic flu; AF; Quantitative; QNT; Quant; Quan; Tot; Totl; B; Chemistry
ru-RU	Russian (Russian Federation)	Бета-N-Ацетилгексозаминидаза.А/Бета-n-ацетилгексозаминидаза.общий:КаталФрак:ТчкВрм:Амниотич ждк клетки:Колич: Synonyms: Амниотическая жидкость Амниотическая жидкость клетки Каталитическая фракция Количественный Точка во времени;Момент
tr-TR	Turkish (Turkey)	Beta-N-asetilhekzosaminidaz.A/Beta-n-asetilhekzosaminidaz.total:KtlFr:Zmlı:Amniyon sv hücreleri:Kant: Synonyms: Amniyon mayii
zh-CN	Chinese (China)	Beta-N-乙酰己糖胺酶.A/Beta-n-乙酰氨基已糖苷酶.总计:催化分数:时间点:羊水细胞:定量型: 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 Beta-n-乙酰氨基已糖苷酶（Beta-N-乙酰氨基己糖苷酶、B-NAH、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）.总计;Beta-n-乙酰己糖胺酶总计 N 型 β 全体数量全部共计化学;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可用数量表示的;定量性;数值型;数量型;连续数值型标尺总总和总数总量总额时刻;随机;随意;瞬间汇总羊膜水;胎水羊膜水细胞;胎水细胞贝塔

Example Units

Unit	Source
%	Example UCUM Units

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LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.