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719986000: Autosomal dominant limb girdle muscular dystrophy type 1C (disorder)

    Status: retired, Primitive. Date: 31-Jan 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3318720013 Autosomal dominant limb girdle muscular dystrophy type 1C (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
    3318721012 Autosomal dominant limb girdle muscular dystrophy type 1C en Synonym Active Initial character case insensitive SNOMED CT core
    3318722017 Limb girdle muscular dystrophy due to caveolin-3 deficiency en Synonym Active Case insensitive SNOMED CT core
    3318723010 Limb-girdle muscular dystrophy 1C caveolin myopathy en Synonym Active Initial character case insensitive SNOMED CT core
    3318724016 A limb girdle muscular dystrophy caused by caveolin-3 deficiency with characteristics of weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement. en Definition Active Case sensitive SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Autosomal dominant limb girdle muscular dystrophy type 1C Finding site Skeletal muscle structure false Inferred relationship Some 1
    Autosomal dominant limb girdle muscular dystrophy type 1C Associated morphology Dystrophy false Inferred relationship Some 1
    Autosomal dominant limb girdle muscular dystrophy type 1C Pathological process Pathological developmental process false Inferred relationship Some 1
    Autosomal dominant limb girdle muscular dystrophy type 1C Clinical course Progressive false Inferred relationship Some 2
    Autosomal dominant limb girdle muscular dystrophy type 1C Is a Autosomal dominant muscular dystrophy with limb girdle distribution false Inferred relationship Some
    Autosomal dominant limb girdle muscular dystrophy type 1C Finding site Skeletal muscle structure false Inferred relationship Some 2
    Autosomal dominant limb girdle muscular dystrophy type 1C Finding site Skeletal muscle structure false Inferred relationship Some 3
    Autosomal dominant limb girdle muscular dystrophy type 1C Associated morphology Developmental abnormality false Inferred relationship Some 2
    Autosomal dominant limb girdle muscular dystrophy type 1C Occurrence Congenital false Inferred relationship Some 2
    Autosomal dominant limb girdle muscular dystrophy type 1C Associated morphology Dystrophy false Inferred relationship Some 3
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set

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