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240059009: Congenital muscular dystrophy (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    359655015 Congenital muscular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    629150019 Congenital muscular dystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    1589021000052116 medfödd muskeldystrofi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    medfödd muskeldystrofi Is a Autosomal recessive muscular dystrophy with limb girdle distribution false Inferred relationship Some
    medfödd muskeldystrofi Is a Congenital hereditary muscular dystrophy false Inferred relationship Some
    medfödd muskeldystrofi Finding site Skeletal muscle structure false Inferred relationship Some 2
    medfödd muskeldystrofi Associated morphology kongenital anomali false Inferred relationship Some 2
    medfödd muskeldystrofi Occurrence Congenital false Inferred relationship Some
    medfödd muskeldystrofi Associated morphology Dystrophy false Inferred relationship Some 1
    medfödd muskeldystrofi Finding site Skeletal muscle structure false Inferred relationship Some 1
    medfödd muskeldystrofi Finding site Skeletal muscle structure false Inferred relationship Some 1
    medfödd muskeldystrofi Finding site Skeletal muscle structure false Inferred relationship Some 2
    medfödd muskeldystrofi Finding site Skeletal muscle structure false Inferred relationship Some 1
    medfödd muskeldystrofi Finding site Skeletal muscle structure false Inferred relationship Some 2
    medfödd muskeldystrofi Finding site Skeletal muscle structure false Inferred relationship Some 1
    medfödd muskeldystrofi Finding site Skeletal muscle structure false Inferred relationship Some 2
    medfödd muskeldystrofi Finding site Skeletal muscle structure false Inferred relationship Some 1
    medfödd muskeldystrofi Finding site Skeletal muscle structure false Inferred relationship Some 2
    medfödd muskeldystrofi Finding site Skeletal muscle structure false Inferred relationship Some 1
    medfödd muskeldystrofi Finding site Skeletal muscle structure false Inferred relationship Some 2
    medfödd muskeldystrofi Occurrence Congenital false Inferred relationship Some 3
    medfödd muskeldystrofi Associated morphology utvecklingsabnormitet false Inferred relationship Some 3
    medfödd muskeldystrofi Finding site Skeletal muscle structure false Inferred relationship Some 3
    medfödd muskeldystrofi Occurrence Congenital false Inferred relationship Some 4
    medfödd muskeldystrofi Associated morphology Dystrophy false Inferred relationship Some 4
    medfödd muskeldystrofi Finding site Skeletal muscle structure false Inferred relationship Some 4
    medfödd muskeldystrofi Is a Muscular dystrophy with predominantly proximal limb girdle distribution false Inferred relationship Some
    medfödd muskeldystrofi Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    medfödd muskeldystrofi Occurrence Congenital false Inferred relationship Some 1
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Western type of congenital muscular dystrophy Is a False medfödd muskeldystrofi Inferred relationship Some
    Congenital muscular dystrophy with arthrogryposis multiplex congenita Is a False medfödd muskeldystrofi Inferred relationship Some
    Ullrich congenital muscular dystrophy Is a False medfödd muskeldystrofi Inferred relationship Some
    Eichsfeld type congenital muscular dystrophy Is a False medfödd muskeldystrofi Inferred relationship Some
    Walker-Warburg congenital muscular dystrophy Is a False medfödd muskeldystrofi Inferred relationship Some
    Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Is a False medfödd muskeldystrofi Inferred relationship Some
    Congenital muscular dystrophy Paradas type (disorder) Is a False medfödd muskeldystrofi Inferred relationship Some
    Congenital muscular dystrophy with hyperlaxity (disorder) Is a False medfödd muskeldystrofi Inferred relationship Some
    Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Is a False medfödd muskeldystrofi Inferred relationship Some
    Congenital muscular dystrophy type 1B Is a False medfödd muskeldystrofi Inferred relationship Some
    Congenital muscular dystrophy due to lamin A/C mutation (disorder) Is a False medfödd muskeldystrofi Inferred relationship Some
    Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder) Is a False medfödd muskeldystrofi Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    GB English

    US English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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