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720566004: Bone dysplasia Azouz type (disorder)


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

    Descriptions:

    Id Description Lang Type Status Case? Module
    3321261017 Bone dysplasia Azouz type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
    3321262012 Bone dysplasia Azouz type en Synonym Active Initial character case insensitive SNOMED CT core
    3321263019 A form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet. It is though to be inherited as an autosomal recessive condition. Dominant pattern of inheritance has been recently suggested. en Definition Active Case sensitive SNOMED CT core
    3321264013 A form of generalised enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterised by severe platyspondyly, and mild involvement of hands and feet. It is though to be inherited as an autosomal recessive condition. Dominant pattern of inheritance has been recently suggested. en Definition Active Case sensitive SNOMED CT core


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Bone dysplasia Azouz type Finding site Bone structure false Inferred relationship Some 1
    Bone dysplasia Azouz type Pathological process Pathological developmental process false Inferred relationship Some 1
    Bone dysplasia Azouz type Occurrence Congenital false Inferred relationship Some 1
    Bone dysplasia Azouz type Associated morphology Congenital dysplasia false Inferred relationship Some 1
    Bone dysplasia Azouz type Is a Autosomal hereditary disorder false Inferred relationship Some
    Bone dysplasia Azouz type Is a Enchondromatosis false Inferred relationship Some
    Bone dysplasia Azouz type Is a Inherited disorder of connective tissue false Inferred relationship Some
    Bone dysplasia Azouz type Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
    Bone dysplasia Azouz type Associated morphology Congenital dysplasia false Inferred relationship Some 2
    Bone dysplasia Azouz type Occurrence Congenital false Inferred relationship Some 2
    Bone dysplasia Azouz type Finding site Bone structure false Inferred relationship Some 2

    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set

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