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725104005: cheiro-spondylo-enchondromatose (aandoening)

    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
    3438596018 Cheirospondyloenchondromatosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3438597010 Cheirospondyloenchondromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3438598017 Generalized enchondromatosis with platyspondyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3438599013 Generalised enchondromatosis with platyspondyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    8177291000146114 cheiro-spondylo-enchondromatose (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    8177301000146113 gegeneraliseerde enchondromatose met platyspondylie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    8177311000146110 cheiro-spondylo-enchondromatose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    3438600011 An extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) with characteristics of symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability. 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
    cheiro-spondylo-enchondromatose (aandoening) Is a Enchondromatosis false Inferred relationship Some
    cheiro-spondylo-enchondromatose (aandoening) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 2
    cheiro-spondylo-enchondromatose (aandoening) Occurrence Congenital false Inferred relationship Some 2
    cheiro-spondylo-enchondromatose (aandoening) Finding site Bone structure false Inferred relationship Some 2
    cheiro-spondylo-enchondromatose (aandoening) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 1
    cheiro-spondylo-enchondromatose (aandoening) Finding site Bone structure false Inferred relationship Some 1
    cheiro-spondylo-enchondromatose (aandoening) Occurrence Congenital false Inferred relationship Some 1
    cheiro-spondylo-enchondromatose (aandoening) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    cheiro-spondylo-enchondromatose (aandoening) Associated morphology Dysplasia false Inferred relationship Some 1
    cheiro-spondylo-enchondromatose (aandoening) Finding site Cartilage structure (body structure) false Inferred relationship Some 2
    cheiro-spondylo-enchondromatose (aandoening) Associated morphology Dysplasia false Inferred relationship Some 2
    cheiro-spondylo-enchondromatose (aandoening) Pathological process (attribute) Pathological developmental process 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 (foundation metadata concept)

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