10406007: Lesch-Nyhan syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Lesch-Nyhan syndrome

\Metabolic disease\Disorder of purine and pyrimidine metabolism\Disorder of purine metabolism\Hyperuricemia\Lesch-Nyhan syndrome
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\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
558397016 Lesch-Nyhan syndrome (disorder) en Fully specified name Active Entire term case sensitive (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
790561000052114 Lesch-Nyhans syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lesch-Nyhan syndrome	Is a	Hyperuricemia	true	Inferred relationship	Some
Lesch-Nyhan syndrome	Is a	Enzymopathy	false	Inferred relationship	Some
Lesch-Nyhan syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Lesch-Nyhan syndrome	Is a	X-bunden hyperuricemi	false	Inferred relationship	Some
Lesch-Nyhan syndrome	Finding site	Blood	false	Inferred relationship	Some
Lesch-Nyhan syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Lesch-Nyhan syndrome	Finding site	Body system structure	false	Inferred relationship	Some
Lesch-Nyhan syndrome	Is a	Deficiency of hypoxanthine phosphoribosyltransferase	true	Inferred relationship	Some
Lesch-Nyhan syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chorea due to Lesch-Nyhan syndrome (disorder)	Due to	True	Lesch-Nyhan syndrome	Inferred relationship	Some	2
Dystonia due to Lesch Nyhan syndrome (disorder)	Due to	True	Lesch-Nyhan syndrome	Inferred relationship	Some	2

This concept is not in any reference sets