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

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Peripheral nerve finding\Peripheral neuropathy\Small fibre neuropathy\Sodium channelopathy-related small fibre neuropathy
\General finding of soft tissue\Disorder of soft tissue\Peripheral neuropathy\Small fibre neuropathy\Sodium channelopathy-related small fibre neuropathy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Sodium channelopathy-related small fibre neuropathy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Sodium channelopathy-related small fibre neuropathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Sodium channelopathy-related small fibre neuropathy
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Peripheral neuropathy\Small fibre neuropathy\Sodium channelopathy-related small fibre neuropathy
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Sodium channelopathy-related small fibre neuropathy
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\Small fibre neuropathy\Sodium channelopathy-related small fibre neuropathy
\Disease\Disorder of soft tissue\Peripheral neuropathy\Small fibre neuropathy\Sodium channelopathy-related small fibre neuropathy

Status: current, Primitive. 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 Active Case insensitive SNOMED CT core

3756081015 Sodium channelopathy-related small fiber neuropathy en Synonym Active Case insensitive SNOMED CT core

3756082010 Sodium channelopathy-related small fiber neuropathy (disorder) en Fully specified name Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

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 fibre neuropathy	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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3756080019	Sodium channelopathy-related small fibre neuropathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3756081015	Sodium channelopathy-related small fiber neuropathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3756082010	Sodium channelopathy-related small fiber neuropathy (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core