Rekord LOINC: 73701-5
Tylko wersja angielska ACTIVE
Szczegóły rekordu LOINC
Informacje podstawowe
| Kod LOINC: |
73701-5
FHIR
|
| Long Common Name: | Multiple carboxylase deficiency (MCD) newborn screen interpretation |
| Short Name: | MCD DBS-Imp |
| Status: | ACTIVE |
| Class Type: | 1 |
Fully Specified Name (FSN)
EN
Oryginalna wersja angielska
Multiple carboxylase deficiency
:
Imp
:
Pt
:
Bld.dot
:
Nom
:
-
Klasyfikacja
| Class: |
ENCHEM
|
| Consumer Name: | - |
| Order/Observation: | Observation |
| Panel Type: | - |
Informacje dodatkowe
| Units Required: | - |
| Example Units: | - |
| UCUM Units: | - |
| Version Last Changed: | 2.56 |
Definicja i opis
EN
Multiple carboxylase deficiency (MCD), also known as holocarboxylase synthetase deficiency, is an inherited disorder in which the body is unable to use the vitamin biotin effectively. It is caused by mutations in the HLCS gene and has an autosomal recessive pattern of inheritance. This observation indicates whether the newborn screen was in-range or out-of-range for the analytes related to multiple carboxylase deficiency.
Powiązane nazwy
Blood; Chemistry; DBS; Dried blood spot; Filter paper; FP; Impression; Impression/interpretation of study; Impressions; Interp; Interpretation; MCD; Mult; Multi; Nominal; Point in time; Random; WB; Whole blood