phosphoribosylpyrophosphate synthetase deficiency

Preferred Label : phosphoribosylpyrophosphate synthetase deficiency;

Origin ID

C537897;

UMLS CUI

C1291401;

CISMeF manual mappings
- Deficiency of ribose-phosphate pyrophosphokinase (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- purine-pyrimidine metabolism, inborn errors [MeSH Descriptor]
- ribose-phosphate pyrophosphokinase [MeSH Descriptor]
Record concept(s)
- Phosphoribosylpyrophosphate synthetase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of ribose-phosphate pyrophosphokinase (disorder) [SNOMED CT concept]