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 |
| 3703840012 | A rare axonal hereditary motor and sensory neuropathy with characteristics of slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3704558019 | Charcot-Marie-Tooth disease, pyramidal features syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3704559010 | Hereditary motor and sensory neuropathy type 5 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3704560017 | Hereditary motor and sensory neuropathy type 5 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3873462011 | Hereditary sensory-motor neuropathy type V | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare axonal hereditary motor and sensory neuropathy with characteristics of slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity. | Is a | Chronic nervous system disorder | true | Inferred relationship | Some | ||
| A rare axonal hereditary motor and sensory neuropathy with characteristics of slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity. | Clinical course | Progressive | true | Inferred relationship | Some | 1 | |
| A rare axonal hereditary motor and sensory neuropathy with characteristics of slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity. | Is a | Hereditary motor and sensory neuropathy (disorder) | true | Inferred relationship | Some | ||
| A rare axonal hereditary motor and sensory neuropathy with characteristics of slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity. | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 2 | |
| A rare axonal hereditary motor and sensory neuropathy with characteristics of slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR