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267451005: Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder)

    Status: retired, Primitive. Date: 31-Jul 2008. Module: SNOMED CT core

    Descriptions:

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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    X-linked hyperuricaemia Finding site Body system structure false Inferred relationship Some
    X-linked hyperuricaemia Occurrence Congenital false Inferred relationship Some
    X-linked hyperuricaemia Is a Purine and pyrimidine metabolism disorder false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Lesch-Nyhan syndrome Is a False X-linked hyperuricaemia Inferred relationship Some
    Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Is a False X-linked hyperuricaemia Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set

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