FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

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


    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 false Inferred relationship Some
    Congenital muscular dystrophy Is a Congenital hereditary muscular dystrophy false Inferred relationship Some
    Congenital muscular dystrophy Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 2
    Congenital muscular dystrophy Associated morphology Congenital anomaly false Inferred relationship Some 2
    Congenital muscular dystrophy Occurrence Congenital false Inferred relationship Some
    Congenital muscular dystrophy Associated morphology Dystrophy false Inferred relationship Some 1
    Congenital muscular dystrophy Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 1
    Congenital muscular dystrophy Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 1
    Congenital muscular dystrophy Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 2
    Congenital muscular dystrophy Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 1
    Congenital muscular dystrophy Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 2
    Congenital muscular dystrophy Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 1
    Congenital muscular dystrophy Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 2
    Congenital muscular dystrophy Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 1
    Congenital muscular dystrophy Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 2
    Congenital muscular dystrophy Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 1
    Congenital muscular dystrophy Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 2
    Congenital muscular dystrophy Occurrence Congenital false Inferred relationship Some 3
    Congenital muscular dystrophy Associated morphology Developmental anomaly false Inferred relationship Some 3
    Congenital muscular dystrophy Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 3
    Congenital muscular dystrophy Occurrence Congenital false Inferred relationship Some 4
    Congenital muscular dystrophy Associated morphology Dystrophy false Inferred relationship Some 4
    Congenital muscular dystrophy Finding site Skeletal muscle structure (body structure) false Inferred relationship Some 4
    Congenital muscular dystrophy Is a Muscular dystrophy with predominantly proximal limb girdle distribution false Inferred relationship Some
    Congenital muscular dystrophy Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Congenital muscular dystrophy Occurrence Congenital false Inferred relationship Some 1

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Western type of congenital muscular dystrophy Is a False Congenital muscular dystrophy Inferred relationship Some
    Congenital muscular dystrophy with arthrogryposis multiplex congenita Is a False Congenital muscular dystrophy Inferred relationship Some
    Ullrich congenital muscular dystrophy Is a False Congenital muscular dystrophy Inferred relationship Some
    Eichsfeld type congenital muscular dystrophy Is a False Congenital muscular dystrophy Inferred relationship Some
    Walker-Warburg congenital muscular dystrophy Is a False Congenital muscular dystrophy Inferred relationship Some
    Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Is a False Congenital muscular dystrophy Inferred relationship Some
    Congenital muscular dystrophy Paradas type (disorder) Is a False Congenital muscular dystrophy Inferred relationship Some
    Congenital muscular dystrophy with hyperlaxity (disorder) Is a False Congenital muscular dystrophy Inferred relationship Some
    Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Is a False Congenital muscular dystrophy Inferred relationship Some
    Congenital muscular dystrophy type 1B Is a False Congenital muscular dystrophy Inferred relationship Some
    Congenital muscular dystrophy due to lamin A/C mutation (disorder) Is a False Congenital muscular dystrophy Inferred relationship Some
    Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder) Is a False Congenital muscular dystrophy Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    GB English

    US English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

    Back to Start