85444005: stoornis van metabolisme van pyrimidine (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of pyrimidine metabolism

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

141631019 Disorder of pyrimidine metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

827499018 Disorder of pyrimidine metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

7056571000146110 stofwisselingsstoornis van pyrimidine nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7056591000146114 stoornis van pyrimidinemetabolisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7671851000146115 metabole stoornis van pyrimidine nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7988101000146113 stoornis van metabolisme van pyrimidine (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8007731000146118 stoornis van metabolisme van pyrimidine 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
Disorder of pyrimidine metabolism	Is a	Inborn error of metabolism	false	Inferred relationship	Some
Disorder of pyrimidine metabolism	Finding site	Body system structure	false	Inferred relationship	Some
Disorder of pyrimidine metabolism	Occurrence	Congenital	false	Inferred relationship	Some
Disorder of pyrimidine metabolism	Is a	Metabolic disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cytosine diphosphate choline phosphotransferase deficiency (disorder)	Is a	True	Disorder of pyrimidine metabolism	Inferred relationship	Some
Dihydropyrimidinase deficiency	Is a	True	Disorder of pyrimidine metabolism	Inferred relationship	Some
Beta-aminoisobutyric aciduria (disorder)	Is a	True	Disorder of pyrimidine metabolism	Inferred relationship	Some
Orotic aciduria	Is a	True	Disorder of pyrimidine metabolism	Inferred relationship	Some
Dihydropyrimidine dehydrogenase deficiency	Is a	True	Disorder of pyrimidine metabolism	Inferred relationship	Some
Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder)	Is a	True	Disorder of pyrimidine metabolism	Inferred relationship	Some
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	Is a	True	Disorder of pyrimidine metabolism	Inferred relationship	Some

This concept is not in any reference sets