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10406007: Lesch-Nyhan syndrome (disorder)

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

Descriptions:

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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lesch-Nyhan syndrome Is a Hyperuricemia true Inferred relationship Existential restriction modifier
Lesch-Nyhan syndrome Is a Enzymopathy false Inferred relationship Existential restriction modifier
Lesch-Nyhan syndrome Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier
Lesch-Nyhan syndrome Is a Hypoxanthine-guanine phosphoribosyltransferase deficiency false Inferred relationship Existential restriction modifier
Lesch-Nyhan syndrome Finding site Blood false Inferred relationship Existential restriction modifier
Lesch-Nyhan syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier
Lesch-Nyhan syndrome Finding site Body system structure false Inferred relationship Existential restriction modifier
Lesch-Nyhan syndrome Is a Deficiency of hypoxanthine phosphoribosyltransferase true Inferred relationship Existential restriction modifier
Lesch-Nyhan syndrome Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Chorea due to Lesch-Nyhan syndrome Due to True Lesch-Nyhan syndrome Inferred relationship Existential restriction modifier 2
Dystonia due to Lesch Nyhan syndrome Due to True Lesch-Nyhan syndrome Inferred relationship Existential restriction modifier 2

This concept is not in any reference sets

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