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781641005: Schwannomatosis (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. 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
4200901000052116 schwannomatos sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


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 schwannom false Inferred relationship Some
Schwannomatosis Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 2
Schwannomatosis Occurrence Congenital true Inferred relationship Some 2
Schwannomatosis Is a Neurofibromatosis syndrome true 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) true 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) true Inferred relationship Some
Schwannomatosis Finding site Structure of nervous system (body structure) true Inferred relationship Some 2
Schwannomatosis Associated morphology Neurofibromatosis true Inferred relationship Some 3
Schwannomatosis Associated morphology Neurofibromatosis true Inferred relationship Some 2
Schwannomatosis Associated morphology Schwannoma true Inferred relationship Some 1
Schwannomatosis Occurrence Congenital true Inferred relationship Some 3
Schwannomatosis Is a Benign neoplasm of nervous system true Inferred relationship Some
Schwannomatosis Finding site Skin structure true Inferred relationship Some 3
Schwannomatosis Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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