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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
    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
    3434701001000110 Neurofibromatose Typ 3 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    5589381000241115 schwannomatose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    5589381000241115 schwannomatose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    3434701001000110 Neurofibromatose Typ 3 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
    Neurofibromatose Typ 3 Is a Autosomal dominant hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Neurofibromatose Typ 3 Is a Neurilemmome false Inferred relationship Existential restriction modifier (core metadata concept)
    Neurofibromatose Typ 3 Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Neurofibromatose Typ 3 Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Neurofibromatose Typ 3 Is a Neurofibromatosis syndrome false Inferred relationship Existential restriction modifier (core metadata concept)
    Neurofibromatose Typ 3 Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Neurofibromatose Typ 3 Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Neurofibromatose Typ 3 Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Neurofibromatose Typ 3 Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Neurofibromatose Typ 3 Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Neurofibromatose Typ 3 Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Neurofibromatose Typ 3 Associated morphology Schwannoma false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Neurofibromatose Typ 3 Is a schwannome false Inferred relationship Existential restriction modifier (core metadata concept)
    Neurofibromatose Typ 3 Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Neurofibromatose Typ 3 Associated morphology Neurofibromatosis false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Neurofibromatose Typ 3 Associated morphology Neurofibromatosis false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Neurofibromatose Typ 3 Associated morphology Schwannoma false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Neurofibromatose Typ 3 Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Neurofibromatose Typ 3 Is a Benign neoplasm of nervous system false Inferred relationship Existential restriction modifier (core metadata concept)
    Neurofibromatose Typ 3 Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Neurofibromatose Typ 3 Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator attribute value reference set (foundation metadata concept)

    REPLACED BY association reference set (foundation metadata concept)

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