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267451005: Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2008. Module: SNOMED CT core module

    Descriptions:

    Id Description Lang Type Status Case? Module
    398889016 Hypoxanthine-guanine phosphoribosyltransferase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
    398890013 X-linked hyperuricaemia en Synonym Active Entire term case sensitive SNOMED CT core module
    398891012 X-linked hyperuricemia en Synonym Active Entire term case sensitive SNOMED CT core module
    660069016 Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Hypoxanthine-guanine phosphoribosyltransferase deficiency Is a Disorder of purine and pyrimidine metabolism false Inferred relationship Existential restriction modifier
    Hypoxanthine-guanine phosphoribosyltransferase deficiency Finding site Body system structure false Inferred relationship Existential restriction modifier
    Hypoxanthine-guanine phosphoribosyltransferase deficiency Occurrence Congenital false Inferred relationship Existential restriction modifier
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Lesch-Nyhan syndrome Is a False Hypoxanthine-guanine phosphoribosyltransferase deficiency Inferred relationship Existential restriction modifier
    Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Is a False Hypoxanthine-guanine phosphoribosyltransferase deficiency Inferred relationship Existential restriction modifier

    This concept is not in any reference sets

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