836343001: Hereditary xanthinuria type 1 (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Hereditary xanthinuria\Hereditary xanthinuria type 1
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hereditary xanthinuria type 1
• \Metabolic disease\Hereditary metabolic disease\Hereditary xanthinuria\Hereditary xanthinuria type 1
• \Metabolic disease\Purine and pyrimidine metabolism disorder\Disorder of purine metabolism\Hereditary xanthinuria\Hereditary xanthinuria type 1
• \Metabolic disease\Enzymopathy\Hereditary xanthinuria\Hereditary xanthinuria type 1

Status: current, Primitive. Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3890977016	Hereditary xanthinuria type 1	en	Synonym	Active	Case insensitive	SNOMED CT core
3890978014	Hereditary xanthinuria type 1 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3890981016	Xanthinuria type I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3891025019	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, haematuria, renal colic and urinary tract infections. Some patients are asymptomatic, others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.	en	Definition	Active	Case sensitive	SNOMED CT core
3891026018	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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