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 |
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