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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
    359655015 Congenital muscular dystrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    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 Only initial character 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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital muscular dystrophy Is a Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital muscular dystrophy Is a Congenital hereditary muscular dystrophy false Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital muscular dystrophy Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital muscular dystrophy Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital muscular dystrophy Associated morphology Dystrophy false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital muscular dystrophy Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Congenital muscular dystrophy Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Congenital muscular dystrophy Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Congenital muscular dystrophy Associated morphology Dystrophy false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Congenital muscular dystrophy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Congenital muscular dystrophy Is a Muscular dystrophy with predominantly proximal limb girdle distribution false Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital muscular dystrophy Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital muscular dystrophy Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Western type of congenital muscular dystrophy Is a False Congenital muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital muscular dystrophy with arthrogryposis multiplex congenita Is a False Congenital muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
    Ullrich congenital muscular dystrophy Is a False Congenital muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
    Eichsfeld type congenital muscular dystrophy Is a False Congenital muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
    Walker-Warburg congenital muscular dystrophy Is a False Congenital muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive. Is a False Congenital muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital muscular dystrophy Paradas type Is a False Congenital muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital muscular dystrophy with hyperlaxity (disorder) Is a False Congenital muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
    Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Is a False Congenital muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital muscular dystrophy type 1B Is a False Congenital muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital muscular dystrophy due to LMNA mutation Is a False Congenital muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder) Is a False Congenital muscular dystrophy Inferred relationship Existential restriction modifier (core metadata concept)

    Reference Sets

    Concept inactivation indicator attribute value reference set (foundation metadata concept)

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