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 |
| 3659556012 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type D | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3659557015 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type D (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 6380831000146115 | autosomaal dominante intermediaire hereditaire motorische en sensorische neuropathie type D | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6380861000146112 | autosomaal dominante intermediaire hereditaire motorische en sensorische neuropathie type D (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6380871000146118 | autosomaal dominante intermediaire ziekte van Charcot-Marie-Tooth type D | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6381601000146119 | DI-HMSN D | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6381611000146117 | DI-CMT D | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3658901012 | A rare hereditary motor and sensory neuropathy with characteristics of intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor. | 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 D | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type D | Is a | Congenital disease (disorder) | false | Inferred relationship | Some | ||
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type D | Finding site | Peripheral nervous system structure | false | Inferred relationship | Some | 1 | |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type D | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type D | Is a | Hereditary motor and sensory neuropathy (disorder) | true | Inferred relationship | Some | ||
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type D | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 1 | |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type D | Is a | Congenital neurological disorder (disorder) | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR