Disorder of purine metabolism   32612005


SNOMED code32612005
nameDisorder of purine metabolism
date introduced2002-01-31
fully specified name(s)Disorder of purine metabolism (disorder)
synonymsDisorder of purine metabolism
parentsDisorder of purine and pyrimidine metabolism   238006008
  • 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
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of purine and pyrimidine metabolism   238006008
          Disorder of purine metabolism   32612005

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