72682008: Isolated xanthine oxidase deficiency (disorder)

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

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
120732016	Isolated xanthine oxidase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
120733014	Classical xanthinuria	en	Synonym	Active	Case insensitive	SNOMED CT core
120734015	Hereditary xanthinuria, type I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
812986018	Isolated xanthine oxidase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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