10406007: Lesch-Nyhan syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Lesch-Nyhan syndrome
• \Metabolic disease\Purine and pyrimidine metabolism disorder\Disorder of purine metabolism\Hyperuricaemia\Lesch-Nyhan syndrome
• \Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase\Deficiency of hypoxanthine phosphoribosyltransferase\Lesch-Nyhan syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
18114013	Lesch-Nyhan syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
18115014	Complete HGPRT deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
18116010	Choreoathetosis self-mutilation syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
18117018	Total HGPRT deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
272182014	HGPRT deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
272183016	HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
272184010	Complete hypoxanthine-guanine phosphoribosyltransferase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
272185011	Lesch-Nyhan disease	en	Synonym	Active	Case sensitive	SNOMED CT core
272186012	Hypoxanthine-guanine phosphoribosyltransferase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
2772305019	X-linked hyperuricemia	en	Synonym	Active	Case sensitive	SNOMED CT core
2774366019	X-linked hyperuricaemia	en	Synonym	Active	Case sensitive	SNOMED CT core
558397016	Lesch-Nyhan syndrome (disorder)	en	Fully specified name	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

Back to Start