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733490006: Distal myopathy with early respiratory muscle involvement (disorder)

    Status: retired, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3499547019 Distal myopathy with early respiratory muscle involvement (disorder) en Fully specified name Active Case insensitive SNOMED CT core
    3499548012 Distal myopathy with early respiratory muscle involvement en Synonym Active Case insensitive SNOMED CT core
    3500015017 A mid-life onset distal myopathy with characteristics of tibialis anterior weakness and progressive respiratory muscle involvement present from the onset of the disease. It has been described in three generations of a family (11 patients). Transmission is autosomal dominant and an anticipation phenomenon is suspected. No genes have yet been identified. en Definition Active Case sensitive SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Distal myopathy with early respiratory muscle involvement Is a Autosomal dominant hereditary disorder false Inferred relationship Some
    Distal myopathy with early respiratory muscle involvement Is a Distal muscular dystrophy false Inferred relationship Some
    Distal myopathy with early respiratory muscle involvement Occurrence Congenital false Inferred relationship Some 2
    Distal myopathy with early respiratory muscle involvement Finding site Skeletal muscle structure false Inferred relationship Some 2
    Distal myopathy with early respiratory muscle involvement Occurrence Congenital false Inferred relationship Some 3
    Distal myopathy with early respiratory muscle involvement Finding site Skeletal muscle structure false Inferred relationship Some 3
    Distal myopathy with early respiratory muscle involvement Associated morphology Dystrophy false Inferred relationship Some 2
    Distal myopathy with early respiratory muscle involvement Associated morphology Developmental abnormality false Inferred relationship Some 3
    Distal myopathy with early respiratory muscle involvement Associated morphology Dystrophy false Inferred relationship Some 1
    Distal myopathy with early respiratory muscle involvement Finding site Skeletal muscle structure false Inferred relationship Some 1
    Distal myopathy with early respiratory muscle involvement Occurrence Adulthood false Inferred relationship Some 1
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set

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