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732931006: Autosomal recessive limb girdle muscular dystrophy type 2R (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
    3467552012 A form of limb-girdle muscular dystrophy with characteristics of adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block and a sinus rhythm with very rare ventricular extrasystoles have also been reported. There is evidence this may be caused by homozygous mutation in the DES gene on chromosome 2q35. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3467549016 Autosomal recessive limb girdle muscular dystrophy type 2R (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3467550016 Autosomal recessive limb girdle muscular dystrophy type 2R en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3467551017 Autosomal recessive limb girdle muscular dystrophy due to desmin deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    994481000172111 dystrophie musculaire des ceintures autosomique récessive type 2R fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    997971000172111 dystrophie musculaire des ceintures autosomique récessive par déficit en desmine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    dystrophie musculaire des ceintures autosomique récessive type 2R Is a Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) false Inferred relationship Some
    dystrophie musculaire des ceintures autosomique récessive type 2R Associated morphology Dystrophy false Inferred relationship Some 1
    dystrophie musculaire des ceintures autosomique récessive type 2R Finding site Skeletal muscle structure false Inferred relationship Some 1
    dystrophie musculaire des ceintures autosomique récessive type 2R Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    dystrophie musculaire des ceintures autosomique récessive type 2R Clinical course Progressive 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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