FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

267451005: Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder)


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

    Descriptions:

    Id Description Lang Type Status Case? Module
    398889016 Hypoxanthine-guanine phosphoribosyltransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    398890013 X-linked hyperuricaemia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    398891012 X-linked hyperuricemia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    660069016 Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    790551000052111 X-bunden hyperuricemi sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    X-bunden hyperuricemi Is a Disorder of purine and pyrimidine metabolism false Inferred relationship Some
    X-bunden hyperuricemi Finding site Body system structure false Inferred relationship Some
    X-bunden hyperuricemi Occurrence Congenital false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Lesch-Nyhan syndrome Is a False X-bunden hyperuricemi Inferred relationship Some
    Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Is a False X-bunden hyperuricemi Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

    Back to Start