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32612005: Disorder of purine 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
54443017 Disorder of purine metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
763917013 Disorder of purine metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4237191000005112 forstyrrelse af purinstofskiftet da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) dansk modul

181 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of purine metabolism Is a Disorder of purine and pyrimidine metabolism true Inferred relationship Some
Disorder of purine metabolism Finding site Body system structure false Inferred relationship Some
Disorder of purine metabolism Occurrence Congenital false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Inosine triphosphate pyrophosphohydrolase deficiency Is a True Disorder of purine metabolism Inferred relationship Some
thiopurinmethyltransferasemangel Is a False Disorder of purine metabolism Inferred relationship Some
Deficiency of AMP pyrophorylase Is a True Disorder of purine metabolism Inferred relationship Some
Adenylosuccinate lyase deficiency Is a True Disorder of purine metabolism Inferred relationship Some
Hyperuricuria Is a True Disorder of purine metabolism Inferred relationship Some
Ribose-phosphate pyrophosphokinase overactivity Is a True Disorder of purine metabolism Inferred relationship Some
Adenosine deaminase deficiency Is a True Disorder of purine metabolism Inferred relationship Some
Hypouricemia Is a True Disorder of purine metabolism Inferred relationship Some
Uric acid level above reference range (finding) Is a False Disorder of purine metabolism Inferred relationship Some
Hereditary xanthinuria Is a True Disorder of purine metabolism Inferred relationship Some
Purine-nucleoside phosphorylase deficiency Is a True Disorder of purine metabolism Inferred relationship Some
Uric acid level below reference range (finding) Is a False Disorder of purine metabolism Inferred relationship Some
Gout Is a True Disorder of purine metabolism Inferred relationship Some
Muscle AMP deaminase deficiency Is a True Disorder of purine metabolism Inferred relationship Some
Hyperuricemia Is a True Disorder of purine metabolism Inferred relationship Some
Phosphoribosylpyrophosphate synthetase superactivity (disorder) Is a True Disorder of purine metabolism Inferred relationship Some
5-amino-4-imidazole carboxamide ribosiduria (disorder) Is a True Disorder of purine metabolism Inferred relationship Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder) Is a True Disorder of purine metabolism Inferred relationship Some
NUDT15 deficiency Is a True Disorder of purine metabolism Inferred relationship Some
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Is a True Disorder of purine metabolism Inferred relationship Some
Chronic tophaceous gout Is a True Disorder of purine metabolism Inferred relationship Some
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement Is a True Disorder of purine metabolism Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to increased adenosine deaminase activity (disorder) Is a True Disorder of purine metabolism Inferred relationship Some

This concept is not in any reference sets

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