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719985001: Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2025. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3318715013 Autosomal dominant limb girdle muscular dystrophy type 1A (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3318716014 Autosomal dominant limb girdle muscular dystrophy type 1A en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3318717017 Limb girdle muscular dystrophy due to myotilin deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3318719019 Limb-girdle muscular dystrophy 1A myotilin myopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3318718010 A limb girdle muscular dystrophy caused by myotilin deficiency with characteristics of limb-girdle weakness in combination with dysarthria. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
    5402294011 A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    5402295012 A rare subtype of autosomal dominant limb girdle muscular dystrophy characterised by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed. 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 1A Is a Autosomal dominant muscular dystrophy with limb girdle distribution false Inferred relationship Some
    Autosomal dominant limb girdle muscular dystrophy type 1A Finding site Skeletal muscle structure false Inferred relationship Some 2
    Autosomal dominant limb girdle muscular dystrophy type 1A Finding site Skeletal muscle structure false Inferred relationship Some 3
    Autosomal dominant limb girdle muscular dystrophy type 1A Associated morphology Developmental anomaly false Inferred relationship Some 2
    Autosomal dominant limb girdle muscular dystrophy type 1A Occurrence Congenital false Inferred relationship Some 2
    Autosomal dominant limb girdle muscular dystrophy type 1A Associated morphology Dystrophy false Inferred relationship Some 3
    Autosomal dominant limb girdle muscular dystrophy type 1A Finding site Skeletal muscle structure false Inferred relationship Some 1
    Autosomal dominant limb girdle muscular dystrophy type 1A Associated morphology Dystrophy false Inferred relationship Some 1
    Autosomal dominant limb girdle muscular dystrophy type 1A Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Autosomal dominant limb girdle muscular dystrophy type 1A Clinical course Progressive (qualifier value) false Inferred relationship Some 2
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Component annotation with string value reference set (foundation metadata concept)

    Concept inactivation indicator reference set

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    US English

    REPLACED BY association reference set (foundation metadata concept)

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