Transferase Deficiency Galactosemia

Preferred Label : Transferase Deficiency Galactosemia;

NCIt synonyms : Transferase-deficient Galactosemia;

NCIt related terms : Transferase Deficient Galactosemia;

NCIt definition : A disorder characterized by the body's inability to metabolize galactose. This type of galactosemia is caused by germline mutations in the GALT gene which leads to the inhibition in the activity of the enzyme galactose-1-phosphate uridyl transferase.;

Détails

Origin ID

C81325;

UMLS CUI

C2825578;

Automatic exact mappings (from CISMeF team)
- Classical galactosemia [LOINC component]
- Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder) [SNOMED CT concept]
- Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Newborn Screening Terminology [NCIt concept]
disease_mapped_to_gene
- GALT Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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