Rekord LOINC: 55908-8
Dostępne tłumaczenie polskie ACTIVE
Tłumaczenie polskie
Komponent
Właściwość
Aspekt czasowy
System
Typ skali
Klasa
Krótka nazwa
Długa nazwa wspólna
Definicja i opis
Szczegóły rekordu LOINC
Informacje podstawowe
| Kod LOINC: |
55908-8
FHIR
|
| Long Common Name: | Alpha galactosidase A [Enzymatic activity/volume] in DBS |
| Short Name: | A-Galactosidase A DBS-cCnc |
| Status: | ACTIVE |
| Class Type: | 1 |
Fully Specified Name (FSN)
PL
Tłumaczenie polskie
Alfa galaktozydaza A
:
stężenie katalityczne
:
punkt w czasie
:
sucha kropla krwi
:
ilościowy
:
-
EN
Oryginalna wersja angielska
Alpha galactosidase A
:
CCnc
:
Pt
:
Bld.dot
:
Qn
:
-
Klasyfikacja
| Class: |
PLbadania biochemiczne - testy bez obciążenia
ENCHEM
|
| Consumer Name: | - |
| Order/Observation: | Both |
| Panel Type: | - |
Informacje dodatkowe
| Units Required: | N |
| Example Units: | umol/L/h |
| UCUM Units: | umol/L/h |
| Version Last Changed: | 2.70 |
Definicja i opis
EN
This is a newborn screening test to detect enzymatic activity in dried blood spot to screen for Fabry disease, which is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin called angiokeratomas; decreased sweating (hypohidrosis); corneal opacity; and hearing loss. Fabry disease can also involve potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. This disorder is caused by mutations in the GLA gene; it has an X-linked pattern of inheritance.
Powiązane nazwy
A-Galactosidase A; Alfa; Alpha galactosidase; Alpha-D-galactosidase; Blood; Catalytic Concentration; Chemistry; DBS; Dried blood spot; Filter paper; FP; GM1-gangliosidosis; Morquio disease type B; MPS IV B; Point in time; QNT; Quan; Quant; Quantitative; Random; WB; Whole blood