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32612005: Disorder of purine metabolism (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
54443017 Disorder of purine metabolism en Synonym Active Case insensitive SNOMED CT core
763917013 Disorder of purine metabolism (disorder) en Fully specified name Active Case insensitive SNOMED CT core

180 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of purine metabolism Is a Purine and pyrimidine metabolism disorder 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
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
Haemolytic anaemia due to erythrocyte adenosine deaminase overproduction Is a True 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
Hypouricaemia Is a True Disorder of purine metabolism Inferred relationship Some
Increased uric acid level 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
Decreased uric acid level 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
Hyperuricaemia Is a True Disorder of purine metabolism Inferred relationship Some
Inosine triphosphate pyrophosphohydrolase deficiency Is a True Disorder of purine metabolism Inferred relationship Some
Thiopurine methyltransferase deficiency Is a False Disorder of purine metabolism Inferred relationship Some
Phosphoribosylpyrophosphate synthetase superactivity Is a True Disorder of purine metabolism Inferred relationship Some
5-amino-4-imidazole carboxamide ribosiduria Is a True Disorder of purine metabolism Inferred relationship Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome Is a True Disorder of purine metabolism Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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