Uridine diphosphate galactose-4-epimerase deficiency

Preferred Label : Uridine diphosphate galactose-4-epimerase deficiency;

ICD-11 definition : Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.;

ICD-11 synonym : UDP-galactose-4-epimerase deficiency;

Details

Origin ID

621563399;

Currated CISMeF NLP mapping
- Galactose epimerase deficiency [LOINC component]
- Galactose epimerase deficiency [ORDO Disease]
- Galactosemia III [OMIM Phenotype]
- UDPglucose 4-Epimerase deficiency disease [MeSH concept]
- Uridine diphosphate glucose-4-epimerase deficiency (disorder) [SNOMED CT concept]
- galactose epimerase deficiency [DO Concept]
- udpglucose-4-epimerase deficiency [SNOMED Notion]
Validated automatic mappings to BTNT
- Generalized galactose epimerase deficiency [ORDO Disease]
Validated automatic mappings to NTBT
- galactosemias [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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