ribose 5-Phosphate isomerase deficiency

Preferred Label : ribose 5-Phosphate isomerase deficiency;

MeSH note : mutation in RPIA;

Origin ID

C563212;

UMLS CUI

C1291609;

Automatic exact mappings (from CISMeF team)
- Ribose-5-P isomerase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Deficiency of ribose-5-phosphate isomerase (disorder) [SNOMED CT concept]
- Ribose 5-phosphate isomerase deficiency [OMIM Phenotype]
- Ribose-5-phosphate isomerase deficiency [ICD-11 More detail]
MeSH term(s) associated for indexing
- Aldose-Ketose isomerases [MeSH Descriptor]
- carbohydrate metabolism, inborn errors [MeSH Descriptor]
- leukoencephalopathies [MeSH Descriptor]
- polyneuropathies [MeSH Descriptor]
Record concept(s)
- ribose 5-Phosphate isomerase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of ribose-5-phosphate isomerase (disorder) [SNOMED CT concept]
- Ribose 5-phosphate isomerase deficiency [OMIM Phenotype]
- Ribose-5-P isomerase deficiency [ORDO Disease]
- Ribose-5-phosphate isomerase deficiency [ICD-11 More detail]