UDPglucose 4-Epimerase deficiency disease

Preferred Label : UDPglucose 4-Epimerase deficiency disease;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0335206;

UMLS CUI

C0751161;

Currated CISMeF NLP mapping
- Galactose epimerase deficiency [LOINC component]
- Galactose epimerase deficiency [ORDO Disease]
- Galactosemia III [OMIM Phenotype]
- Uridine diphosphate galactose-4-epimerase deficiency [ICD-11 More detail]
- Uridine diphosphate glucose-4-epimerase deficiency (disorder) [SNOMED CT concept]
- galactose epimerase deficiency [DO Concept]
- udpglucose-4-epimerase deficiency [SNOMED Notion]
Related record
- galactosemias [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Galactose epimerase deficiency [ORDO Disease]
- Galactose epimerase deficiency [LOINC component]
- Galactosemia III [OMIM Phenotype]
- 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]