10406007: Lesch-Nyhan syndrome (disorder)

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Lesch-Nyhan syndrome
• \trouble métabolique\Disorder of purine and pyrimidine metabolism\troubles du métabolisme des purines\hyperuricémie (trouble)\Lesch-Nyhan syndrome
• \trouble métabolique\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase\Deficiency of hypoxanthine phosphoribosyltransferase\Lesch-Nyhan syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
18114013	Lesch-Nyhan syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
18115014	Complete HGPRT deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
18116010	Choreoathetosis self-mutilation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
18117018	Total HGPRT deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
272182014	HGPRT deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
272183016	HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
272184010	Complete hypoxanthine-guanine phosphoribosyltransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
272185011	Lesch-Nyhan disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
272186012	Hypoxanthine-guanine phosphoribosyltransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2772305019	X-linked hyperuricemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2774366019	X-linked hyperuricaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
393061000241114	syndrome de Lesch-Nyhan (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
558397016	Lesch-Nyhan syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
958101000172111	syndrome de Lesch-Nyhan	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
979701000172116	déficit complet en HPRT	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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