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782824007: Sodium channelopathy-related small fiber neuropathy (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3756080019 Sodium channelopathy-related small fibre neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756081015 Sodium channelopathy-related small fiber neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756082010 Sodium channelopathy-related small fiber neuropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3761539015 A rare genetic peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibres characterised by neuropathic pain of varying intensity (often beginning in the distal extremities and with a burning quality) associated with autonomic dysfunction (for example orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing and reduction in intraepidermal nerve fibre density. Large fibre functions (such as normal strength, tendon reflexes and vibration sense) and nerve conduction studies are typically normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3761540018 A rare genetic peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibers characterized by neuropathic pain of varying intensity (often beginning in the distal extremities and with a burning quality) associated with autonomic dysfunction (for example orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing and reduction in intraepidermal nerve fiber density. Large fiber functions (such as normal strength, tendon reflexes and vibration sense) and nerve conduction studies are typically normal. 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
Sodium channelopathy-related small fibre neuropathy Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Sodium channelopathy-related small fibre neuropathy Is a Small fiber neuropathy (disorder) true Inferred relationship Some
Sodium channelopathy-related small fibre neuropathy Is a Hereditary disorder of nervous system true Inferred relationship Some
Sodium channelopathy-related small fibre neuropathy Finding site Peripheral nerve structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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