85444005: Disorder of pyrimidine metabolism (disorder)

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

141631019 Disorder of pyrimidine metabolism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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

3441551001000117 Pyrimidin-Stoffwechselstörung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

890761000172113 trouble du métabolisme de la pyrimidine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

890761000172113 trouble du métabolisme de la pyrimidine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3441551001000117 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 pyrimidine metabolism	Is a	Inborn error of metabolism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of pyrimidine metabolism	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of pyrimidine metabolism	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of pyrimidine metabolism	Is a	Metabolic disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cytosine diphosphate choline phosphotransferase deficiency (disorder)	Is a	True	Disorder of pyrimidine metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Dihydropyrimidinase deficiency	Is a	True	Disorder of pyrimidine metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Beta-aminoisobutyric aciduria (disorder)	Is a	True	Disorder of pyrimidine metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Orotic aciduria (disorder)	Is a	True	Disorder of pyrimidine metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare disorder of pyrimidine metabolism with characteristics of a variable phenotype ranging from absence of symptoms to severe neurological involvement with developmental delay, intellectual disability, and seizures. Additional signs and symptoms may include hypotonia, microcephaly, ocular abnormalities (such as microphthalmia, nystagmus, and strabismus), and autistic behavior, among others. Analysis of urine typically shows high levels of uracil and thymine. Patients are at risk of suffering from severe toxicity after the administration of the anti-neoplastic agent 5-fluorouracil.	Is a	True	Disorder of pyrimidine metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder)	Is a	True	Disorder of pyrimidine metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	Is a	True	Disorder of pyrimidine metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets