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403778001: X-gebonden dominante chondrodysplasia punctata type 2 (aandoening)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    1771704018 X-linked dominant chondrodysplasia punctata of Happle (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
    1782788014 X-linked dominant chondrodysplasia punctata of Happle en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    1787869018 X-linked dominant ichthyosis (Happle) en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    9357471000146115 X-gebonden dominante chondrodysplasia punctata type 2 (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    9357481000146118 syndroom van Conradi-Hünermann-Happle nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    9357491000146116 X-gebonden dominante chondrodysplasia punctata type 2 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    9781331000146110 X-gebonden dominante dyschondroplasia punctata type 2 nl Synonym (core metadata concept) Active Entire term case sensitive (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
    X-gebonden dominante chondrodysplasia punctata type 2 (aandoening) Is a Degenerative disorder of musculoskeletal system false Inferred relationship Some
    X-gebonden dominante chondrodysplasia punctata type 2 (aandoening) Is a atrophodermia false Inferred relationship Some
    X-gebonden dominante chondrodysplasia punctata type 2 (aandoening) Is a Congenital anomaly of skin false Inferred relationship Some
    X-gebonden dominante chondrodysplasia punctata type 2 (aandoening) Is a Chondrodysplasia punctata false Inferred relationship Some
    X-gebonden dominante chondrodysplasia punctata type 2 (aandoening) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 1
    X-gebonden dominante chondrodysplasia punctata type 2 (aandoening) Associated morphology Atrophy false Inferred relationship Some 2
    X-gebonden dominante chondrodysplasia punctata type 2 (aandoening) Finding site Skin structure false Inferred relationship Some 2
    X-gebonden dominante chondrodysplasia punctata type 2 (aandoening) Finding site Bone structure false Inferred relationship Some 1
    X-gebonden dominante chondrodysplasia punctata type 2 (aandoening) Occurrence Congenital false Inferred relationship Some
    X-gebonden dominante chondrodysplasia punctata type 2 (aandoening) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 1
    X-gebonden dominante chondrodysplasia punctata type 2 (aandoening) Finding site Bone structure false Inferred relationship Some 1
    X-gebonden dominante chondrodysplasia punctata type 2 (aandoening) Finding site Skin structure false Inferred relationship Some 2
    X-gebonden dominante chondrodysplasia punctata type 2 (aandoening) Associated morphology Atrophy false Inferred relationship Some 2
    X-gebonden dominante chondrodysplasia punctata type 2 (aandoening) Occurrence Congenital false Inferred relationship Some 3
    X-gebonden dominante chondrodysplasia punctata type 2 (aandoening) Finding site Bone structure false Inferred relationship Some 3
    X-gebonden dominante chondrodysplasia punctata type 2 (aandoening) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 3
    X-gebonden dominante chondrodysplasia punctata type 2 (aandoening) Occurrence Congenital false Inferred relationship Some 1
    X-gebonden dominante chondrodysplasia punctata type 2 (aandoening) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    X-gebonden dominante chondrodysplasia punctata type 2 (aandoening) Associated morphology Dysplasia false Inferred relationship Some 1
    X-gebonden dominante chondrodysplasia punctata type 2 (aandoening) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
    X-gebonden dominante chondrodysplasia punctata type 2 (aandoening) Is a X-linked hereditary disease false Inferred relationship Some
    X-gebonden dominante chondrodysplasia punctata type 2 (aandoening) Is a Developmental hereditary disorder false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set (foundation metadata concept)

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