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Disorder of purine metabolism 32612005 SNOMED CT code SNOMED code 32612005 name Disorder of purine metabolism status active date introduced 2002-01-31 fully specified name(s) Disorder of purine metabolism (disorder) synonyms Disorder of purine metabolism parents Disorder of purine and pyrimidine metabolism 238006008 children 5-amino-4-imidazole carboxamide ribosiduria 725289009 Adenosine deaminase deficiency 44940001 Adenylosuccinate lyase deficiency 15285008 Chronic tophaceous gout 73877009 Deficiency of AMP pyrophorylase 124274002 Gout 90560007 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction 5315003 Hereditary xanthinuria 54627004 Hyperuricemia 35885006 Hyperuricuria 16813005 Hypouricemia 4519003 Inosine triphosphate pyrophosphohydrolase deficiency 238011005 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement 1208747005 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency 783734000 Muscle AMP deaminase deficiency 9105005 NUDT15 deficiency 781386002 Phosphoribosylpyrophosphate synthetase superactivity 723454008 Purine-nucleoside phosphorylase deficiency 60743005 Ribose-phosphate pyrophosphokinase overactivity 35759001 Thiopurine methyltransferase deficiency 238012003 removed: 2018-01-31 X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome 732246009 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 64572001 75934005 238006008 32612005 ancestors sorted most to least specific
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