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238006008: Disorder of purine and pyrimidine metabolism (disorder)


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
2121051000005117 purin- og pyrimidinstofskifteforstyrrelse da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) dansk modul


188 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 Some
Disorder of purine and pyrimidine metabolism Finding site Body system structure false Inferred relationship Some
Disorder of purine and pyrimidine metabolism Occurrence Congenital false Inferred relationship Some
Disorder of purine and pyrimidine metabolism Is a Metabolic disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Uridine monophosphate hydrolase deficiency Is a True Disorder of purine and pyrimidine metabolism Inferred relationship Some
Cytosine diphosphate choline phosphotransferase deficiency (disorder) Is a True Disorder of purine and pyrimidine metabolism Inferred relationship Some
Dihydropyrimidinase deficiency Is a False Disorder of purine and pyrimidine metabolism Inferred relationship Some
Dihydropyrimidine dehydrogenase deficiency Is a False Disorder of purine and pyrimidine metabolism Inferred relationship Some
X-bundet hyperurikæmi Is a False Disorder of purine and pyrimidine metabolism Inferred relationship Some
Deficiency of xanthine oxidase (disorder) Is a True Disorder of purine and pyrimidine metabolism Inferred relationship Some
Disorder of purine metabolism Is a True Disorder of purine and pyrimidine metabolism Inferred relationship Some
Hereditary orotic aciduria, type 1 Is a True Disorder of purine and pyrimidine metabolism Inferred relationship Some
Congenital hypoplastic anemia Is a False Disorder of purine and pyrimidine metabolism Inferred relationship Some
Hereditary orotic aciduria, type 2 Is a True Disorder of purine and pyrimidine metabolism Inferred relationship Some
Xanthinuria Is a True Disorder of purine and pyrimidine metabolism Inferred relationship Some
Andre forstyrrelser af purin- og pyrimidinstofskiftet Is a False Disorder of purine and pyrimidine metabolism Inferred relationship Some

This concept is not in any reference sets

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