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718178006: Autosomal dominant limb girdle muscular dystrophy type 1B (disorder)


    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3311388014 Autosomal dominant limb girdle muscular dystrophy type 1B (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3311389018 Autosomal dominant limb girdle muscular dystrophy type 1B en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3311390010 Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a laminopathy with characteristics of progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild joint contractures and age-related atrioventricular cardiac conduction disturbances. Dilated cardiomyopathy is frequently associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3876001000052119 autosomalt dominant muskeldystrofi typ 1B i skulder-bäckengördel sv Synonym (core metadata concept) Active Only initial character case insensitive (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
    autosomalt dominant muskeldystrofi typ 1B i skulder-bäckengördel Is a Autosomal recessive muscular dystrophy with limb girdle distribution false Inferred relationship Some
    autosomalt dominant muskeldystrofi typ 1B i skulder-bäckengördel Associated morphology Dystrophy false Inferred relationship Some 1
    autosomalt dominant muskeldystrofi typ 1B i skulder-bäckengördel Finding site Skeletal muscle structure false Inferred relationship Some 1
    autosomalt dominant muskeldystrofi typ 1B i skulder-bäckengördel Is a Autosomal dominant muscular dystrophy with limb girdle distribution false Inferred relationship Some
    autosomalt dominant muskeldystrofi typ 1B i skulder-bäckengördel Associated morphology utvecklingsabnormitet false Inferred relationship Some 2
    autosomalt dominant muskeldystrofi typ 1B i skulder-bäckengördel Occurrence Congenital false Inferred relationship Some 2
    autosomalt dominant muskeldystrofi typ 1B i skulder-bäckengördel Finding site Skeletal muscle structure false Inferred relationship Some 2
    autosomalt dominant muskeldystrofi typ 1B i skulder-bäckengördel Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    autosomalt dominant muskeldystrofi typ 1B i skulder-bäckengördel Clinical course Progressive (qualifier value) false Inferred relationship Some 2

    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

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