77365006: Dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^) deficiency (disorder)

SNOMED CT Concept\Clinical finding (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, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

128409017 Dihydrouracil dehydrogenase (NADP^+^) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

128410010 Dihydropyrimidine dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

128411014 Dihydrothymine dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

128412019 Sensitivity to fluorouracil toxicity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

128413012 Hereditary thymine-uraciluria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

128414018 Familial pyrimidinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

128415017 DPD deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

503535019 Dihydrouracil dehydrogenase (NADP) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

503536018 Familial pyrimidinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2974025014 Dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^) deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2974381011 Dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^) deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

891901000052113 brist på dihydrouracildehydrogenas (NADP^+^) sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dihydrouracil dehydrogenase (NADP^+^) deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Dihydrouracil dehydrogenase (NADP^+^) deficiency	Is a	Enzymopathy	true	Inferred relationship	Some
Dihydrouracil dehydrogenase (NADP^+^) deficiency	Is a	Disorder of pyrimidine metabolism	true	Inferred relationship	Some
Dihydrouracil dehydrogenase (NADP^+^) deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Dihydrouracil dehydrogenase (NADP^+^) deficiency	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

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Active

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Characteristic

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This concept is not in any reference sets