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237967002: Lysosomal alpha-1,4-glucosidase deficiency (disorder)


    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    356657012 AMD - Acid maltase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    356658019 alpha-Glucosidase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    356659010 Glycogen storage disease type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    356660017 alpha-1,4-Glucosidase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    356661018 Lysosomal alpha-1,4-glucosidase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    356662013 Acid maltase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    626778013 Lysosomal alpha-1,4-glucosidase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    2065671000005117 storage disease med glykogenophobning, type II da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    storage disease med glykogenophobning, type II Is a Glycogen storage disease false Inferred relationship Some
    storage disease med glykogenophobning, type II Occurrence Congenital false Inferred relationship Some
    storage disease med glykogenophobning, type II Finding site Liver structure false Inferred relationship Some
    storage disease med glykogenophobning, type II Finding site Skeletal muscle structure false Inferred relationship Some
    storage disease med glykogenophobning, type II Finding site Body system structure false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    lysosomal alpha-1,4-glucosidase-mangel – infantil debut Is a False storage disease med glykogenophobning, type II Inferred relationship Some
    lysosomal alpha-1,4-glucosidase-mangel – juvenil debut Is a False storage disease med glykogenophobning, type II Inferred relationship Some
    lysosomal alpha-1,4-glucosidase-mangel – adult debut Is a False storage disease med glykogenophobning, type II Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set (foundation metadata concept)

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