Galactose epimerase deficiency

Preferred Label : Galactose epimerase deficiency;

LOINC status : ACTIVE;

Synonyme UMLS : Galactosemia III; Uridine diphosphate (UDP) glucose-4-epimerase deficiency; UDPglucose-4-epimerase deficiency; Galactosemia - epimerase deficiency; Uridine diphosphate galactose-4 epimerase deficiency; UDPgalactose-4-epimerase deficiency; Uridine diphosphate galactose-4-epimerase deficiency; Epimerase deficiency; Galactosaemia III; GALE; UDP-galactose-4-epimerase deficiency;

UMLS MTHU# : MTHU021613;

Détails

Origin ID

LP56783-1;

UMLS CUI

C0751161;

Automatic exact mappings (from CISMeF team)
- Deficiency of epimerase (disorder) [SNOMED CT concept]
- E3 Ubiquitin-Protein Ligase Itchy Homolog [NCIt concept]
- Gall [NCIt concept]
- Gull (organism) [SNOMED CT concept]
- ITCH Gene [NCIt concept]
- Scabies [NCIt concept]
- Scabies [ICD-10 category]
- Scabies [ICD-11 Category]
- Scabies [PASCAL descriptor]
- Scabies [ICD-9 code]
- Scabies [ICD-10 category (who)]
- Scabies [MedDRA LLT]
- Scabies infestation [MedDRA LLT]
- Subcategory [NCIt concept]
- Subject Characteristics Yes No Indicator [NCIt concept]
- UDP-galactose-4-epimerase [ORDO Gene]
- Udp-galactose-4-epimerase [OMIM gene]
- Wales [NCIt concept]
- galactose [MeSH Descriptor]
- galactose [MeSH concept]
- galactosemias [MeSH Descriptor]
- infestation by sarcoptes scabiei [SNOMED Notion]
- scabies [MeSH Descriptor]
- scabies [MeSH concept]
- scabies [MedlinePlus Topic]
- scabies/other acariasis [ICPC-2 Rubric]
Currated CISMeF NLP mapping
- Galactose epimerase deficiency [ORDO Disease]
- Galactosemia III [OMIM Phenotype]
- UDPglucose 4-Epimerase deficiency disease [MeSH concept]
- 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]
LOINC code(s)
- Galactose epimerase deficiency:Imp:Pt:Bld.dot:Ord: [LOINC code]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 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]

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