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773985008: Peripheral dysostosis (disorder)


    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3727470016 Peripheral dysostosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3727471017 Peripheral dysostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3727393011 A rare primary bone dysplasia with characteristics of cone-shaped epiphyses of the phalanges, hyperextensibility and hyper-flexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Peripheral dysostosis Is a Autosomal dominant hereditary disorder false Inferred relationship Some
    Peripheral dysostosis Occurrence Congenital false Inferred relationship Some 1
    Peripheral dysostosis Is a Dysostosis false Inferred relationship Some
    Peripheral dysostosis Associated morphology Congenital dysplasia false Inferred relationship Some 1
    Peripheral dysostosis Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
    Peripheral dysostosis Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Peripheral dysostosis Finding site Bone structure false Inferred relationship Some 1
    Peripheral dysostosis Associated morphology Dysplasia false Inferred relationship Some 1
    Peripheral dysostosis Is a Developmental hereditary disorder false Inferred relationship Some

    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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