Dihydropyrimidine dehydrogenase deficiency

Preferred Label : Dihydropyrimidine dehydrogenase deficiency;

ICD-11 definition : This refers to deficiency in an enzyme that is involved in pyrimidine degradation. It is the initial and rate-limiting step in pyrimidine catabolism.;

ICD-11 synonym : Dihydrouracil dehydrogenase deficiency; Familial pyrimidinaemia;

Details

Origin ID

701689290;

Automatic exact mappings (from CISMeF team)
- dihydrouracil dehydrogenase (NADP) [MeSH Descriptor]
- dihydrouracil dehydrogenase (nad+) [MeSH Descriptor]
Currated CISMeF NLP mapping
- Dihydropyrimidine Dehydrogenase Deficiency [NCIt concept]
- Dihydropyrimidine dehydrogenase deficiency [OMIM Phenotype]
- Dihydropyrimidine dehydrogenase deficiency [ORDO Disease]
- Dihydropyrimidine dehydrogenase deficiency [MedDRA Preferred Term]
- Dihydropyrimidine dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Dihydrouracil Dehydrogenase Deficiency [NCIt concept]
- Reduced dihydropyrimidine dehydrogenase level [HPO term]
- dihydropyrimidine dehydrogenase deficiency [MeSH concept]
- dihydropyrimidine dehydrogenase deficiency [MeSH Descriptor]
- dihydropyrimidine dehydrogenase deficiency [DO Concept]
- dihydrouracil dehydrogenase (nadp+) deficiency [SNOMED Notion]
See also inter- (CISMeF)
- Dihydropyrimidine Dehydrogenase [NADP(+)] [NCIt concept]
- Dihydropyrimidine dehydrogenase (substance) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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