hereditaire xanthinurie type 1 (aandoening)
hereditaire xanthinurie type 1
erfelijke xanthinurie type 1
Hereditary xanthinuria type 1
Xanthinuria type I
A type of classical xanthinuria, this disease is a rare autosomal recessive disorder of purine metabolism with characteristics of isolated deficiency of xanthine dehydrogenase, leading to urolithiasis, hematuria, renal colic and urinary tract infections. Some patients are asymptomatic, others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.
referentieset met complexe 'mapping' naar ICD-10
AdviceALWAYS E79.8
CorrelationSNOMED CT source code to target map code correlation not specified