Disorder of purine metabolism

Disorder of purine metabolism (disorder)

active

Code	`32612005`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

Parents (1)

238006008Disorder of purine and pyrimidine metabolism disorder

Children (20)

7252890095-amino-4-imidazole carboxamide ribosiduria disorder
44940001Adenosine deaminase deficiency disorder
15285008Adenylosuccinate lyase deficiency disorder
124274002Deficiency of AMP pyrophorylase disorder
90560007Gout disorder
5315003Haemolytic anaemia due to erythrocyte adenosine deaminase overproduction disorder
54627004Hereditary xanthinuria disorder
35885006Hyperuricaemia disorder
16813005Hyperuricuria disorder
4519003Hypouricaemia disorder
1208747005ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement disorder
238011005Inosine triphosphate pyrophosphohydrolase deficiency disorder
783734000Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency disorder
9105005Muscle AMP deaminase deficiency disorder
781386002NUDT15 deficiency disorder
1367655003PAICS deficiency disorder disorder
723454008Phosphoribosylpyrophosphate synthetase superactivity disorder
60743005Purine-nucleoside phosphorylase deficiency disorder
35759001Ribose-phosphate pyrophosphokinase overactivity disorder
732246009X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency disorder