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720566004: Bone dysplasia Azouz type (disorder)


    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Only initial character case insensitive (core metadata concept) SNOMED CT core
    3321262012 Bone dysplasia Azouz type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
    3909511000052119 skelettdysplasi, typ Azouz sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    skelettdysplasi, typ Azouz Is a Autosomal hereditary disorder false Inferred relationship Some
    skelettdysplasi, typ Azouz Is a Enchondromatosis false Inferred relationship Some
    skelettdysplasi, typ Azouz Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
    skelettdysplasi, typ Azouz Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
    skelettdysplasi, typ Azouz Associated morphology kongenital dysplasi false Inferred relationship Some 2
    skelettdysplasi, typ Azouz Occurrence Congenital false Inferred relationship Some 2
    skelettdysplasi, typ Azouz Finding site Bone structure false Inferred relationship Some 2
    skelettdysplasi, typ Azouz Finding site Bone structure false Inferred relationship Some 1
    skelettdysplasi, typ Azouz Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    skelettdysplasi, typ Azouz Occurrence Congenital false Inferred relationship Some 1
    skelettdysplasi, typ Azouz Associated morphology kongenital dysplasi false Inferred relationship Some 1

    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

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