FHIR © HL7.org | Server Home | FHIR Server FHIR Server 4.0.1 | FHIR Version n/a User: [n/a]

77365006: Dihydropyrimidine dehydrogenase deficiency (disorder)

SNOMED CT Concept\Clinical finding\Disease\...

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Dihydropyrimidine dehydrogenase deficiency

\Metabolic disease\Disorder of pyrimidine metabolism\Dihydropyrimidine dehydrogenase deficiency
\Metabolic disease\Enzymopathy\Dihydropyrimidine dehydrogenase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

128409017 Dihydrouracil dehydrogenase (NADP^+^) deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
128410010 Dihydropyrimidine dehydrogenase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
128411014 Dihydrothymine dehydrogenase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
128412019 Sensitivity to fluorouracil toxicity en Synonym Active Entire term case insensitive SNOMED CT core module
128413012 Hereditary thymine-uraciluria en Synonym Active Entire term case insensitive SNOMED CT core module
128414018 Familial pyrimidinemia en Synonym Active Entire term case insensitive SNOMED CT core module
128415017 DPD deficiency en Synonym Inactive Entire term case sensitive SNOMED CT core module
503535019 Dihydrouracil dehydrogenase (NADP) deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
503536018 Familial pyrimidinaemia en Synonym Active Entire term case insensitive SNOMED CT core module
818187019 Dihydrouracil dehydrogenase (NADP^+^) deficiency (disorder) en Fully specified name Inactive Only initial character case insensitive SNOMED CT core module
2974025014 Dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^) deficiency (disorder) en Fully specified name Inactive Entire term case insensitive SNOMED CT core module
2974381011 Dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^) deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
4964974019 Dihydropyrimidine dehydrogenase deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
4964975018 DPD - dihydropyrimidine dehydrogenase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dihydropyrimidine dehydrogenase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Dihydropyrimidine dehydrogenase deficiency	Is a	Enzymopathy	true	Inferred relationship	Existential restriction modifier
Dihydropyrimidine dehydrogenase deficiency	Is a	Disorder of pyrimidine metabolism	true	Inferred relationship	Existential restriction modifier
Dihydropyrimidine dehydrogenase deficiency	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Dihydropyrimidine dehydrogenase deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
128409017	Dihydrouracil dehydrogenase (NADP^+^) deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
128410010	Dihydropyrimidine dehydrogenase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
128411014	Dihydrothymine dehydrogenase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
128412019	Sensitivity to fluorouracil toxicity	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
128413012	Hereditary thymine-uraciluria	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
128414018	Familial pyrimidinemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
128415017	DPD deficiency	en	Synonym	Inactive	Entire term case sensitive	SNOMED CT core module
503535019	Dihydrouracil dehydrogenase (NADP) deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
503536018	Familial pyrimidinaemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
818187019	Dihydrouracil dehydrogenase (NADP^+^) deficiency (disorder)	en	Fully specified name	Inactive	Only initial character case insensitive	SNOMED CT core module
2974025014	Dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^) deficiency (disorder)	en	Fully specified name	Inactive	Entire term case insensitive	SNOMED CT core module
2974381011	Dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^) deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4964974019	Dihydropyrimidine dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4964975018	DPD - dihydropyrimidine dehydrogenase deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module