dihydropyrimidine dehydrogenase deficiency

Preferred Label : dihydropyrimidine dehydrogenase deficiency;

MeSH definition : An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity.;

MeSH synonym : deficiencies, dihydropyrimidine dehydrogenase; dehydrogenase deficiencies, dihydropyrimidine; deficiency, dihydropyrimidine dehydrogenase; dehydrogenase deficiency, dihydropyrimidine; dihydropyrimidine dehydrogenase deficiencies; pyrimidinemia, familial; familial pyrimidinemias; pyrimidinemias, familial; Thymine-Uraciluria, hereditary; hereditary Thymine-Uraciluria; hereditary Thymine-Uracilurias; thymine uraciluria, hereditary; Thymine-Uracilurias, hereditary; familial pyrimidinemia; hereditary thymine uraciluria; DPD deficiency; DPD deficiencies; deficiencies, DPD; deficiency, DPD; familial pyrimidemia; familial pyrimidemias; pyrimidemia, familial; pyrimidemias, familial;

Related MeSH term : Dihydropyrimidinuria; Dihydropyrimidinurias;

Details

Origin ID

D054067;

UMLS CUI

C1959620;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- DPD deficiency [MedDRA LLT]
- Dihydropyrimidinase deficiency [OMIM Phenotype]
- Dihydropyrimidinuria [ORDO Disease]
- dihydropyrimidinase deficiency [DO Concept]
Currated CISMeF NLP mapping
- Dihydropyrimidine Dehydrogenase Deficiency [NCIt concept]
- 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.)]
- dihydrouracil dehydrogenase (nadp+) deficiency [SNOMED Notion]
DO Cross reference
- dihydropyrimidine dehydrogenase deficiency [DO Concept]
HPO term
- Reduced dihydropyrimidine dehydrogenase level [HPO term]
Has phenotype(s) (HPO)
- Speech delay [HPO term]
Manual NTBT mappings (CISMeF)
- Disorder of pyrimidine metabolism [ORDO Disease]
MeSH Descriptor(s) used for indexing
- dihydrouracil dehydrogenase (NADP) [MeSH Descriptor]
ORDO relation(s)
- Dihydropyrimidine dehydrogenase deficiency [ORDO Disease]
Record concept(s)
- Dihydropyrimidinuria [MeSH concept]
- dihydropyrimidine dehydrogenase deficiency [MeSH concept]
Related MeSH Supplementary Concept(s)
- 5 alpha fluorouracil toxicity [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- dihydrouracil dehydrogenase (nad+) [MeSH Descriptor]
See also inter- (CISMeF)
- Dihydropyrimidinase deficiency [ICD-11 More detail]
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]
- dihydrouracil dehydrogenase (nadp+) deficiency [SNOMED Notion]

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