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781641005: Schwannomatosis (disorder)


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

    Descriptions:

    Id Description Lang Type Status Case? Module
    3751135019 Schwannomatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3751136018 Schwannomatosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3767105018 Neurilemmomatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3751137010 The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from Neurofibromatosis type 1 and Neurofibromatosis type 2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. The disease develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves and the cranium. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3751138017 The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from Neurofibromatosis type 1 and Neurofibromatosis type 2 and is characterised by the development of multiple schwannomas (nerve sheath tumours), without involvement of the vestibular nerves. The disease develops in adulthood and is often associated with chronic pain. Dysaesthesia and paraesthesia may also be present. Common localisations include the spine, peripheral nerves and the cranium. 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
    Schwannomatosis Is a Autosomal dominant hereditary disorder false Inferred relationship Some
    Schwannomatosis Is a Neurilemmoma false Inferred relationship Some
    Schwannomatosis Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 2
    Schwannomatosis Occurrence Congenital false Inferred relationship Some 2
    Schwannomatosis Is a Neurofibromatosis syndrome false Inferred relationship Some
    Schwannomatosis Finding site Skin structure false Inferred relationship Some 2
    Schwannomatosis Occurrence Congenital false Inferred relationship Some 1
    Schwannomatosis Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    Schwannomatosis Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Schwannomatosis Finding site Structure of nervous system (body structure) false Inferred relationship Some 1
    Schwannomatosis Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 1
    Schwannomatosis Associated morphology Schwannoma false Inferred relationship Some 3
    Schwannomatosis Is a Schwannoma (disorder) false Inferred relationship Some
    Schwannomatosis Finding site Structure of nervous system (body structure) false Inferred relationship Some 2
    Schwannomatosis Associated morphology Neurofibromatosis false Inferred relationship Some 3
    Schwannomatosis Associated morphology Neurofibromatosis false Inferred relationship Some 2
    Schwannomatosis Associated morphology Schwannoma false Inferred relationship Some 1
    Schwannomatosis Occurrence Congenital false Inferred relationship Some 3
    Schwannomatosis Is a Benign neoplasm of nervous system false Inferred relationship Some
    Schwannomatosis Finding site Skin structure false Inferred relationship Some 3
    Schwannomatosis Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3

    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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