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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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Autosomal dominant limb girdle muscular dystrophy type 1B Is a Autosomal recessive muscular dystrophy with limb girdle distribution false Inferred relationship Some
    Autosomal dominant limb girdle muscular dystrophy type 1B Associated morphology Dystrophy false Inferred relationship Some 1
    Autosomal dominant limb girdle muscular dystrophy type 1B Finding site Skeletal muscle structure false Inferred relationship Some 1
    Autosomal dominant limb girdle muscular dystrophy type 1B Is a Autosomal dominant muscular dystrophy with limb girdle distribution false Inferred relationship Some
    Autosomal dominant limb girdle muscular dystrophy type 1B Associated morphology Developmental anomaly false Inferred relationship Some 2
    Autosomal dominant limb girdle muscular dystrophy type 1B Occurrence Congenital false Inferred relationship Some 2
    Autosomal dominant limb girdle muscular dystrophy type 1B Finding site Skeletal muscle structure false Inferred relationship Some 2
    Autosomal dominant limb girdle muscular dystrophy type 1B Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Autosomal dominant limb girdle muscular dystrophy type 1B 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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