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781641005: Schwannomatosis (disorder)


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3751135019 Schwannomatosis en Synonym Active Case insensitive SNOMED CT core
3751136018 Schwannomatosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3767105018 Neurilemmomatosis en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive 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 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 Pathological developmental process false Inferred relationship Some 2
Schwannomatosis Pathological process Pathological developmental process false Inferred relationship Some 1
Schwannomatosis Finding site Structure of nervous system true Inferred relationship Some 1
Schwannomatosis Associated morphology Morphologically abnormal structure false Inferred relationship Some 1
Schwannomatosis Associated morphology Neurilemoma false Inferred relationship Some 3
Schwannomatosis Is a Schwannoma true Inferred relationship Some
Schwannomatosis Finding site Structure of nervous system 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 Neurilemoma 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 Pathological developmental process false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

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