dihydrouracil dehydrogenase (nadp ) deficiency - CISMeF

" /> dihydrouracil dehydrogenase (nadp ) deficiency - CISMeF

CISMeF

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Dihydrouracil dehydrogenase (nadp ) deficiencySNOMED Notion

Preferred Label : dihydrouracil dehydrogenase (nadp ) deficiency;

Details

Origin ID

D6-44230;

UMLS CUI

C1959620;

Automatic exact mappings (from CISMeF team)
- dihydropyrimidine dehydrogenase (NADP+) activity [GO term]
- dihydrouracil dehydrogenase (NAD+) activity [GO term]
Currated CISMeF NLP mapping
- Dihydropyrimidine Dehydrogenase Deficiency [NCIt concept]
- Dihydropyrimidine dehydrogenase deficiency [ORDO Disease]
- Dihydropyrimidine dehydrogenase deficiency [ICD-11 More detail]
- Dihydropyrimidine dehydrogenase deficiency [OMIM Phenotype]
- Dihydropyrimidine dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Dihydrouracil Dehydrogenase Deficiency [NCIt concept]
- Reduced dihydropyrimidine dehydrogenase level [HPO term]
- dihydropyrimidine dehydrogenase deficiency [MeSH Descriptor]
- dihydropyrimidine dehydrogenase deficiency [MeSH concept]
ICD-10 exact mapping(s)
- Other disorders of purine and pyrimidine metabolism [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Disorder of pyrimidine metabolism [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- congenital deficiency, nos [SNOMED Notion]
- dihydrouracil dehydrogenase (nadp+) [SNOMED Notion]
SNOMED CT concept
- Dihydropyrimidine dehydrogenase deficiency (disorder) [SNOMED CT concept]
See also inter- (CISMeF)
- dihydropyrimidine dehydrogenase deficiency [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- DPD deficiency [MedDRA LLT]
- 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]
- dihydropyrimidine dehydrogenase deficiency [MeSH concept]
- dihydropyrimidine dehydrogenase deficiency [MeSH Descriptor]

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03/07/2025

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