Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3659552014 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3659553016 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type C | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3659554010 | A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3659555011 | A rare hereditary motor and sensory neuropathy characterised by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (disorder) | Finding site | Peripheral nervous system structure | false | Inferred relationship | Some | 1 | |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (disorder) | Is a | Hereditary motor and sensory neuropathy (disorder) | true | Inferred relationship | Some | ||
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (disorder) | Is a | Congenital disease (disorder) | false | Inferred relationship | Some | ||
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (disorder) | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR