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


Status: current, Necessary but not sufficient concept definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
128409017 Dihydrouracil dehydrogenase (NADP^+^) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
128410010 Dihydropyrimidine dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
128411014 Dihydrothymine dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
128412019 Sensitivity to fluorouracil toxicity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
128413012 Hereditary thymine-uraciluria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
128414018 Familial pyrimidinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core US English: Acceptable (foundation metadata concept)
128415017 DPD deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
503535019 Dihydrouracil dehydrogenase (NADP) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
503536018 Familial pyrimidinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
2974025014 Dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^) deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
2974381011 Dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^) deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)

0 descendants.

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 Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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