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278712003: chondrodysplasie met kenmerkend fenotype (aandoening)


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

    Descriptions:

    Id Description Lang Type Status Case? Module
    415713013 Kniest-Stickler dysplasia group en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    671903013 Kniest-Stickler dysplasia group (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
    10205181000146116 chondrodysplasie met kenmerkend fenotype (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    10205191000146119 chondrodysplasie met kenmerkend fenotype nl Synonym (core metadata concept) Active Entire term 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
    chondrodysplasie met kenmerkend fenotype (aandoening) Is a Osteochondrodysplasia syndrome false Inferred relationship Some
    chondrodysplasie met kenmerkend fenotype (aandoening) Is a Skeletal dysplasia false Inferred relationship Some
    chondrodysplasie met kenmerkend fenotype (aandoening) Finding site Bone structure false Inferred relationship Some 1
    chondrodysplasie met kenmerkend fenotype (aandoening) Associated morphology Dysplasia false Inferred relationship Some 1
    chondrodysplasie met kenmerkend fenotype (aandoening) Occurrence Congenital false Inferred relationship Some
    chondrodysplasie met kenmerkend fenotype (aandoening) Finding site Skeletal system structure false Inferred relationship Some 1
    chondrodysplasie met kenmerkend fenotype (aandoening) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 1
    chondrodysplasie met kenmerkend fenotype (aandoening) Associated morphology Congenital malformation false Inferred relationship Some
    chondrodysplasie met kenmerkend fenotype (aandoening) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 1
    chondrodysplasie met kenmerkend fenotype (aandoening) Finding site Bone structure false Inferred relationship Some 1
    chondrodysplasie met kenmerkend fenotype (aandoening) Occurrence Congenital false Inferred relationship Some 2
    chondrodysplasie met kenmerkend fenotype (aandoening) Finding site Bone structure false Inferred relationship Some 2
    chondrodysplasie met kenmerkend fenotype (aandoening) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 2
    chondrodysplasie met kenmerkend fenotype (aandoening) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    chondrodysplasie met kenmerkend fenotype (aandoening) Occurrence Congenital false Inferred relationship Some 1
    chondrodysplasie met kenmerkend fenotype (aandoening) Is a Congenital anomaly of skeletal bone false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Otospondylomegaepiphyseal dysplasia Is a False chondrodysplasie met kenmerkend fenotype (aandoening) Inferred relationship Some
    Kniest dysplasia Is a False chondrodysplasie met kenmerkend fenotype (aandoening) Inferred relationship Some
    Stickler syndrome Is a False chondrodysplasie met kenmerkend fenotype (aandoening) Inferred relationship Some
    Lethal Kniest-like syndrome Is a False chondrodysplasie met kenmerkend fenotype (aandoening) Inferred relationship Some
    Rolland-Debuqois syndrome Is a False chondrodysplasie met kenmerkend fenotype (aandoening) Inferred relationship Some
    Kniest-Stickler dysplasia Is a False chondrodysplasie met kenmerkend fenotype (aandoening) Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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