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297251003: Glycogen phosphorylase kinase deficiency, X-linked (disorder)


    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    437740019 Glycogen phosphorylase kinase deficiency, X-linked en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    692562017 Glycogen phosphorylase kinase deficiency, X-linked (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    4900091000172119 X-gebonden glycogeenfosforylasekinasedeficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
    4900101000172110 glycogeenfosforylasekinasedeficiëntie, X-gebonden nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    X-gebonden glycogeenfosforylasekinasedeficiëntie Is a Glycogen phosphorylase kinase deficiency false Inferred relationship Some
    X-gebonden glycogeenfosforylasekinasedeficiëntie Occurrence Congenital false Inferred relationship Some
    X-gebonden glycogeenfosforylasekinasedeficiëntie Finding site Liver structure false Inferred relationship Some
    X-gebonden glycogeenfosforylasekinasedeficiëntie Finding site Skeletal muscle structure (body structure) false Inferred relationship Some
    X-gebonden glycogeenfosforylasekinasedeficiëntie Finding site Body system structure false Inferred relationship Some
    X-gebonden glycogeenfosforylasekinasedeficiëntie Occurrence Congenital false Inferred relationship Some 1
    X-gebonden glycogeenfosforylasekinasedeficiëntie Finding site Liver structure false Inferred relationship Some 1

    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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