Dihydropyrimidine Dehydrogenase Deficiency

Preferred Label : Dihydropyrimidine Dehydrogenase Deficiency;

NCIt synonyms : DPD Deficiency; DPYD Deficiency; Dihydrouracil Dehydrogenase Deficiency; Thymine-Uraciluria; Thymine-Uracilurea;

NCIt definition : A rare disorder characterized by an inborn error in pyrimidine metabolism. It results in the deficiency or complete absence of the enzyme dihydropyrimidine dehydrogenase. Individuals with this disorder may develop a severe toxicity reaction if they are exposed to the chemotherapeutic agent 5-fluorouracil.;

Details

Origin ID

C84672;

UMLS CUI

C1959620;

Automatic exact mappings (from CISMeF team)
- DPD deficiency [MedDRA LLT]
Currated CISMeF NLP mapping
- Dihydropyrimidine dehydrogenase deficiency [ICD-11 More detail]
- Dihydropyrimidine dehydrogenase deficiency [MedDRA Preferred Term]
- Dihydropyrimidine dehydrogenase deficiency [OMIM Phenotype]
- Dihydropyrimidine dehydrogenase deficiency [ORDO Disease]
- Dihydropyrimidine dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Reduced dihydropyrimidine dehydrogenase level [HPO term]
- dihydropyrimidine dehydrogenase deficiency [DO Concept]
- dihydropyrimidine dehydrogenase deficiency [Disease (Nov.)]
- dihydropyrimidine dehydrogenase deficiency [MeSH Descriptor]
- dihydropyrimidine dehydrogenase deficiency [MeSH concept]
- dihydrouracil dehydrogenase (nadp+) deficiency [SNOMED Notion]
DO Cross reference
- dihydropyrimidine dehydrogenase deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- DPD deficiency [MedDRA LLT]
- Dihydropyrimidine dehydrogenase deficiency [MedDRA Preferred Term]
- Dihydropyrimidine dehydrogenase deficiency [ORDO Disease]
- Dihydropyrimidine dehydrogenase deficiency [OMIM Phenotype]
- Dihydropyrimidine dehydrogenase deficiency (disorder) [SNOMED CT concept]
- dihydropyrimidine dehydrogenase deficiency [MeSH concept]
- dihydropyrimidine dehydrogenase deficiency [MeSH Descriptor]
- dihydrouracil dehydrogenase (nadp+) deficiency [SNOMED Notion]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
disease_has_associated_gene
- DPYD Gene [NCIt concept]
- DPYD wt Allele [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- DPYD Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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