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783165001: Dysplastic cortical hyperostosis (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Apr 2025. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    5408499012 Dysplastic cortical hyperostosis is an extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    5408500015 Dysplastic cortical hyperostosis is an extremely rare primary bone dysplasia with increased bone density characterised by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3757916011 Dysplastic cortical hyperostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3757917019 Kozlowski Tsuruta syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3757919016 Dysplastic cortical hyperostosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    5591281000241113 hyperostose corticale dysplasique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    3383911001000113 Hyperostosis corticalis, dysplastische de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    hyperostose corticale dysplasique Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    hyperostose corticale dysplasique Finding site Bone structure false Inferred relationship Some 1
    hyperostose corticale dysplasique Associated morphology Dysplasia false Inferred relationship Some 1
    hyperostose corticale dysplasique Is a Dysplasia with increased bone density false Inferred relationship Some
    hyperostose corticale dysplasique Occurrence Congenital false Inferred relationship Some 1
    hyperostose corticale dysplasique Interprets Bone density scan false Inferred relationship Some 2
    hyperostose corticale dysplasique Has interpretation Above reference range false Inferred relationship Some 2
    hyperostose corticale dysplasique Is a Congenital anomaly of skeletal bone false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Component annotation with string value reference set (foundation metadata concept)

    Concept inactivation indicator reference set

    GB English

    US English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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