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715992003: Dyssegmental dysplasia with glaucoma syndrome (disorder)

    Status: retired, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3304356014 Dyssegmental dysplasia with glaucoma syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
    3304357017 Dyssegmental dysplasia with glaucoma syndrome en Synonym Active Case insensitive SNOMED CT core
    3304358010 This syndrome is characterised by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children. en Definition Active Case sensitive SNOMED CT core
    3304359019 This syndrome is characterized by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children en Definition Active Case sensitive SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Dyssegmental dysplasia with glaucoma syndrome Pathological process Pathological developmental process false Inferred relationship Some 1
    Dyssegmental dysplasia with glaucoma syndrome Occurrence Congenital false Inferred relationship Some 2
    Dyssegmental dysplasia with glaucoma syndrome Finding site Bone structure false Inferred relationship Some 2
    Dyssegmental dysplasia with glaucoma syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 2
    Dyssegmental dysplasia with glaucoma syndrome Finding site Structure of vertebral column false Inferred relationship Some 1
    Dyssegmental dysplasia with glaucoma syndrome Pathological process Pathological developmental process false Inferred relationship Some 2
    Dyssegmental dysplasia with glaucoma syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Some 1
    Dyssegmental dysplasia with glaucoma syndrome Occurrence Congenital false Inferred relationship Some 1
    Dyssegmental dysplasia with glaucoma syndrome Is a Disorder of vertebral column false Inferred relationship Some
    Dyssegmental dysplasia with glaucoma syndrome Is a Kniest dysplasia false Inferred relationship Some
    Dyssegmental dysplasia with glaucoma syndrome Is a Congenital anomaly of spine false Inferred relationship Some
    Dyssegmental dysplasia with glaucoma syndrome Is a Congenital glaucoma false Inferred relationship Some
    Dyssegmental dysplasia with glaucoma syndrome Is a Short stature disorder false Inferred relationship Some
    Dyssegmental dysplasia with glaucoma syndrome Finding site Eye structure false Inferred relationship Some
    Dyssegmental dysplasia with glaucoma syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 5
    Dyssegmental dysplasia with glaucoma syndrome Occurrence Congenital false Inferred relationship Some 5
    Dyssegmental dysplasia with glaucoma syndrome Finding site Bone structure false Inferred relationship Some 5
    Dyssegmental dysplasia with glaucoma syndrome Associated morphology Developmental abnormality false Inferred relationship Some 6
    Dyssegmental dysplasia with glaucoma syndrome Occurrence Congenital false Inferred relationship Some 6
    Dyssegmental dysplasia with glaucoma syndrome Finding site Structure of vertebral column false Inferred relationship Some 6
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set

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