dihydropyrimidinase deficiency

Preferred Label : dihydropyrimidinase deficiency;

MeSH note : mutation in DYPS;

MeSH synonym : DPYS deficiency; DPH deficiency;

Origin ID

C562815;

UMLS CUI

C0342803;

Currated CISMeF NLP mapping
- Dihydropyrimidinase deficiency [ICD-11 More detail]
- Dihydropyrimidinase deficiency [OMIM Phenotype]
- Dihydropyrimidinase deficiency (disorder) [SNOMED CT concept]
- Dihydropyrimidinuria [ORDO Disease]
- dihydropyrimidinase deficiency [Disease (Nov.)]
- dihydropyrimidinase deficiency [DO Concept]
DO Cross reference
- dihydropyrimidinase deficiency [DO Concept]
MeSH term(s) associated for indexing
- metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- dihydropyrimidinase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dihydropyrimidinase deficiency [OMIM Phenotype]
- Dihydropyrimidinase deficiency [ICD-11 More detail]
- Dihydropyrimidinase deficiency (disorder) [SNOMED CT concept]
- Dihydropyrimidinuria [ORDO Disease]
- dihydropyrimidinase deficiency [Disease (Nov.)]
- dihydropyrimidinase deficiency [DO Concept]