77365006: Dihydropyrimidine dehydrogenase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Dihydrouracil dehydrogenase (NADP^+^) deficiency
• \Metabolic disease\Disorder of pyrimidine metabolism\Dihydrouracil dehydrogenase (NADP^+^) deficiency
• \Metabolic disease\Enzymopathy\Dihydrouracil dehydrogenase (NADP^+^) deficiency

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
128409017	Dihydrouracil dehydrogenase (NADP^+^) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
128410010	Dihydropyrimidine dehydrogenase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
128411014	Dihydrothymine dehydrogenase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
128412019	Sensitivity to fluorouracil toxicity	en	Synonym	Active	Case insensitive	SNOMED CT core
128413012	Hereditary thymine-uraciluria	en	Synonym	Active	Case insensitive	SNOMED CT core
128414018	Familial pyrimidinemia	en	Synonym	Active	Case insensitive	SNOMED CT core
2974381011	Dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^) deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
4964974019	Dihydropyrimidine dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4964975018	DPD - dihydropyrimidine dehydrogenase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
503535019	Dihydrouracil dehydrogenase (NADP) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
503536018	Familial pyrimidinaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
4964976017	A rare disorder of pyrimidine metabolism with characteristics of a variable phenotype ranging from absence of symptoms to severe neurological involvement with developmental delay, intellectual disability, and seizures. Additional signs and symptoms may include hypotonia, microcephaly, ocular abnormalities (such as microphthalmia, nystagmus, and strabismus), and autistic behavior, among others. Analysis of urine typically shows high levels of uracil and thymine. Patients are at risk of suffering from severe toxicity after the administration of the anti-neoplastic agent 5-fluorouracil.	en	Definition	Active	Case sensitive	SNOMED CT core
4964977014	A rare disorder of pyrimidine metabolism with characteristics of a variable phenotype ranging from absence of symptoms to severe neurological involvement with developmental delay, intellectual disability, and seizures. Additional signs and symptoms may include hypotonia, microcephaly, ocular abnormalities (such as microphthalmia, nystagmus, and strabismus), and autistic behaviour, among others. Analysis of urine typically shows high levels of uracil and thymine. Patients are at risk of suffering from severe toxicity after the administration of the anti-neoplastic agent 5-fluorouracil.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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