Dihydropyrimidinase deficiency

Preferred Label : Dihydropyrimidinase deficiency;

ICD-11 definition : This refers to deficiency in the enzyme that belongs to the family of hydrolases, those acting on carbon-nitrogen bonds other than peptide bonds, specifically in cyclic amides.;

ICD-11 synonym : Dihydropyrimidinuria; Dihydrouracil amidohydrolase deficiency;

Details

Origin ID

1998720114;

UMLS CUI

C0342803;

Currated CISMeF NLP mapping
- Dihydropyrimidinase deficiency [OMIM Phenotype]
- Dihydropyrimidinase deficiency (disorder) [SNOMED CT concept]
- Dihydropyrimidinuria [ORDO Disease]
- Dihydropyrimidinuria [MeSH concept]
- dihydropyrimidinase deficiency [MeSH concept]
- dihydropyrimidinase deficiency [MeSH Supplementary Concept]
- dihydropyrimidinase deficiency [Disease (Nov.)]
- dihydropyrimidinase deficiency [DO Concept]
See also inter- (CISMeF)
- dihydropyrimidine dehydrogenase deficiency [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dihydropyrimidinase deficiency [OMIM Phenotype]
- Dihydropyrimidinase deficiency (disorder) [SNOMED CT concept]
- Dihydropyrimidinuria [ORDO Disease]
- dihydropyrimidinase deficiency [MeSH concept]
- dihydropyrimidinase deficiency [MeSH Supplementary Concept]
- dihydropyrimidinase deficiency [Disease (Nov.)]
- dihydropyrimidinase deficiency [DO Concept]

Keyword's position in hierarchy(ies) :

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