Ribose-5-phosphate isomerase deficiency

Preferred Label : Ribose-5-phosphate isomerase deficiency;

ICD-11 definition : This refers to a deficiency enzyme that catalyzes the conversion between ribose-5-phosphate (R5P) and ribulose-5-phosphate (Ru5P).;

Details

Origin ID

1998134467;

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 [MeSH concept]
- ribose 5-Phosphate isomerase deficiency [MeSH Supplementary 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 [MeSH concept]
- ribose 5-Phosphate isomerase deficiency [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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