238014002: deficiëntie van dihydropyrimidinase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\...

\Disorder of pyrimidine metabolism\Dihydropyrimidinase deficiency

\Enzymopathy\Dihydropyrimidinase 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

356748010 Dihydrouracil amidohydrolase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

356749019 Dihydropyrimidinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626832010 Dihydropyrimidinase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

7055881000146118 deficiëntie van dihydropyrimidinase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7055891000146116 deficiëntie van dihydropyrimidinase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7055901000146115 dihydropyrimidinasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dihydropyrimidinase deficiency	Is a	Disorder of purine and pyrimidine metabolism	false	Inferred relationship	Some
Dihydropyrimidinase deficiency	Is a	Disorder of pyrimidine metabolism	true	Inferred relationship	Some
Dihydropyrimidinase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Dihydropyrimidinase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Dihydropyrimidinase deficiency	Is a	Enzymopathy	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets