FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

238006008: Disorder of purine and pyrimidine metabolism (disorder)

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
356736012 Disorder of purine and pyrimidine metabolism en Synonym Active Entire term case insensitive SNOMED CT core module
626823013 Disorder of purine and pyrimidine metabolism (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3036760010 Purine and pyrimidine metabolism disorder en Synonym Active Entire term case insensitive SNOMED CT core module

189 descendants. Search Descendants:

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
Disorder of purine and pyrimidine metabolism Finding site Body system structure false Inferred relationship Existential restriction modifier
Disorder of purine and pyrimidine metabolism Occurrence Congenital false Inferred relationship Existential restriction modifier
Disorder of purine and pyrimidine metabolism Is a Metabolic disease true Inferred relationship Existential restriction modifier
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
Cytosine diphosphate choline phosphotransferase deficiency Is a True Disorder of purine and pyrimidine metabolism Inferred relationship Existential restriction modifier
Dihydropyrimidinase deficiency Is a False Disorder of purine and pyrimidine metabolism Inferred relationship Existential restriction modifier
Dihydropyrimidine dehydrogenase deficiency Is a False Disorder of purine and pyrimidine metabolism Inferred relationship Existential restriction modifier
Hypoxanthine-guanine phosphoribosyltransferase deficiency Is a False Disorder of purine and pyrimidine metabolism Inferred relationship Existential restriction modifier
Deficiency of xanthine oxidase Is a True Disorder of purine and pyrimidine metabolism Inferred relationship Existential restriction modifier
Disorder of purine metabolism Is a True Disorder of purine and pyrimidine metabolism Inferred relationship Existential restriction modifier
Hereditary orotic aciduria, type 1 Is a True Disorder of purine and pyrimidine metabolism Inferred relationship Existential restriction modifier
Congenital hypoplastic anemia Is a False Disorder of purine and pyrimidine metabolism Inferred relationship Existential restriction modifier
Hereditary orotic aciduria, type 2 Is a True Disorder of purine and pyrimidine metabolism Inferred relationship Existential restriction modifier
Xanthinuria Is a True Disorder of purine and pyrimidine metabolism Inferred relationship Existential restriction modifier
Other disorders of purine and pyrimidine metabolism Is a False Disorder of purine and pyrimidine metabolism Inferred relationship Existential restriction modifier
Other disorders of purine and pyrimidine metabolism Is a False Disorder of purine and pyrimidine metabolism Inferred relationship Existential restriction modifier

This concept is not in any reference sets

Back to Start