10406007: Lesch-Nyhan syndrome (disorder)

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

\Procedure related finding\Evaluation finding\Measurement finding\...

\Finding of substance level (finding)\Finding of blood substance level\Blood substance level above reference range\Blood urate above reference range\Hyperuricemia\Lesch-Nyhan syndrome
\Finding of substance level (finding)\Finding of blood substance level\Blood urate level - finding\Blood urate outside reference range (finding)\Blood urate above reference range\Hyperuricemia\Lesch-Nyhan syndrome
\Finding of substance level (finding)\Urate level - finding\Blood urate level - finding\Blood urate outside reference range (finding)\Blood urate above reference range\Hyperuricemia\Lesch-Nyhan syndrome
\Finding of substance level (finding)\Urate level - finding\Uric acid level above reference range (finding)\Blood urate above reference range\Hyperuricemia\Lesch-Nyhan syndrome

\Measurement finding outside reference range\Measurement finding above reference range\Blood substance level above reference range\Blood urate above reference range\Hyperuricemia\Lesch-Nyhan syndrome
\Measurement finding outside reference range\Measurement finding above reference range\Uric acid level above reference range (finding)\Blood urate above reference range\Hyperuricemia\Lesch-Nyhan syndrome
\Measurement finding outside reference range\Blood urate outside reference range (finding)\Blood urate above reference range\Hyperuricemia\Lesch-Nyhan syndrome

\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Lesch-Nyhan syndrome
\Disease\Metabolic disease\Disorder of purine and pyrimidine metabolism\Disorder of purine metabolism\Hyperuricemia\Lesch-Nyhan syndrome
\Disease\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:

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	Hypoxanthine-guanine phosphoribosyltransferase deficiency	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
Lesch-Nyhan syndrome	Interprets	Blood urate measurement	true	Inferred relationship	Some	1
Lesch-Nyhan syndrome	Has interpretation	Above reference range	true	Inferred relationship	Some	1

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

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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