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32612005: Disorder of purine 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
54443017 Disorder of purine metabolism en Synonym Active Entire term case insensitive SNOMED CT core module
763917013 Disorder of purine metabolism (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

182 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 Existential restriction modifier
Disorder of purine metabolism Finding site Body system structure false Inferred relationship Existential restriction modifier
Disorder of purine metabolism Occurrence Congenital false Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Inosine triphosphate pyrophosphohydrolase deficiency Is a True Disorder of purine metabolism Inferred relationship Existential restriction modifier
Thiopurine methyltransferase deficiency Is a False Disorder of purine metabolism Inferred relationship Existential restriction modifier
Deficiency of adenine phosphoribosyltransferase Is a True Disorder of purine metabolism Inferred relationship Existential restriction modifier
Adenylosuccinate lyase deficiency Is a True Disorder of purine metabolism Inferred relationship Existential restriction modifier
Hyperuricuria Is a True Disorder of purine metabolism Inferred relationship Existential restriction modifier
Ribose-phosphate pyrophosphokinase overactivity Is a True Disorder of purine metabolism Inferred relationship Existential restriction modifier
Adenosine deaminase deficiency Is a True Disorder of purine metabolism Inferred relationship Existential restriction modifier
Hypouricemia Is a True Disorder of purine metabolism Inferred relationship Existential restriction modifier
Uric acid level above reference range Is a False Disorder of purine metabolism Inferred relationship Existential restriction modifier
Hereditary xanthinuria Is a True Disorder of purine metabolism Inferred relationship Existential restriction modifier
Purine-nucleoside phosphorylase deficiency Is a True Disorder of purine metabolism Inferred relationship Existential restriction modifier
Uric acid level below reference range Is a False Disorder of purine metabolism Inferred relationship Existential restriction modifier
Inflammatory disorder due to increased blood urate level Is a True Disorder of purine metabolism Inferred relationship Existential restriction modifier
Muscle adenosine monophosphate deaminase deficiency Is a True Disorder of purine metabolism Inferred relationship Existential restriction modifier
Hyperuricemia Is a True Disorder of purine metabolism Inferred relationship Existential restriction modifier
Phosphoribosylpyrophosphate synthetase superactivity Is a True Disorder of purine metabolism Inferred relationship Existential restriction modifier
5-amino-4-imidazole carboxamide ribosiduria Is a True Disorder of purine metabolism Inferred relationship Existential restriction modifier
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome Is a True Disorder of purine metabolism Inferred relationship Existential restriction modifier
Deficiency of nudix hydrolase 15 Is a True Disorder of purine metabolism Inferred relationship Existential restriction modifier
Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency Is a True Disorder of purine metabolism Inferred relationship Existential restriction modifier
Chronic tophaceous gout Is a True Disorder of purine metabolism Inferred relationship Existential restriction modifier
Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement Is a True Disorder of purine metabolism Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to increased adenosine deaminase activity Is a True Disorder of purine metabolism Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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