238006008: Disorder of purine and pyrimidine metabolism (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of purine and 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

356736012 Disorder of purine and pyrimidine metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626823013 Disorder of purine and pyrimidine metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3036760010 Purine and pyrimidine metabolism disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

356736012 Disorder of purine and pyrimidine metabolism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

356736012 Disorder of purine and pyrimidine metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626823013 Disorder of purine and pyrimidine metabolism (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

626823013 Disorder of purine and pyrimidine metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3036760010 Purine and pyrimidine metabolism disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3036760010 Purine and pyrimidine metabolism disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3438161001000115 Purin/Pyrimidin-Stoffwechselstörung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6072011000241113 trouble du métabolisme de la purine et de la pyrimidine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6072021000241118 trouble métabolique de la purine et de la pyrimidine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6072011000241113 trouble du métabolisme de la purine et de la pyrimidine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6072021000241118 trouble métabolique de la purine et de la pyrimidine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3438161001000115 Purin/Pyrimidin-Stoffwechselstörung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorder of purine and pyrimidine metabolism	Is a	Inborn error of metabolism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of purine and pyrimidine metabolism	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of purine and pyrimidine metabolism	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of purine and pyrimidine metabolism	Is a	Metabolic disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Uridine monophosphate hydrolase deficiency	Is a	True	Disorder of purine and pyrimidine metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Cytosine diphosphate choline phosphotransferase deficiency (disorder)	Is a	True	Disorder of purine and pyrimidine metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Dihydropyrimidinase deficiency	Is a	False	Disorder of purine and pyrimidine metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Dihydropyrimidine dehydrogenase deficiency	Is a	False	Disorder of purine and pyrimidine metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypoxanthine-guanine phosphoribosyltransferase deficiency	Is a	False	Disorder of purine and pyrimidine metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of xanthine oxidase	Is a	True	Disorder of purine and pyrimidine metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of purine metabolism (disorder)	Is a	True	Disorder of purine and pyrimidine metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary orotic aciduria, type 1	Is a	True	Disorder of purine and pyrimidine metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypoplastic anaemia	Is a	False	Disorder of purine and pyrimidine metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary orotic aciduria, type 2	Is a	True	Disorder of purine and pyrimidine metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Xanthinuria	Is a	True	Disorder of purine and pyrimidine metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Other disorders of purine and pyrimidine metabolism	Is a	False	Disorder of purine and pyrimidine metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets