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17931000146105: congenitale myotonie (aandoening)


    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2021. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

    Descriptions:

    Id Description Lang Type Status Case? Module
    135701000146112 Congenital myotonia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    135711000146114 Congenital myotonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    712251000146114 congenitale myotonie (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    712261000146112 congenitale myotonie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    congenitale myotonie (aandoening) Is a Myotonic disorder false Inferred relationship Some
    congenitale myotonie (aandoening) Finding site Skeletal muscle structure false Inferred relationship Some 2
    congenitale myotonie (aandoening) Occurrence Congenital false Inferred relationship Some 1
    congenitale myotonie (aandoening) Is a Congenital disease (disorder) false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Steinert myotonic dystrophy syndrome Is a False congenitale myotonie (aandoening) Inferred relationship Some
    Congenital myotonic dystrophy Is a False congenitale myotonie (aandoening) Inferred relationship Some
    Congenital myotonia, autosomal recessive form Is a False congenitale myotonie (aandoening) Inferred relationship Some
    Congenital myotonia, autosomal dominant form Is a False congenitale myotonie (aandoening) Inferred relationship Some
    Myotonia congenita (disorder) Is a False congenitale myotonie (aandoening) Inferred relationship Some
    Richieri Costa-da Silva syndrome Is a False congenitale myotonie (aandoening) Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set (foundation metadata concept)

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