Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4674375012 | Charcot-Marie-Tooth disease type 2S | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4674376013 | Charcot-Marie-Tooth disease type 2S (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4674377016 | A rare subtype of axonal hereditary motor and sensory neuropathy with characteristics of progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 9994571000172116 | maladie de Charcot-Marie-Tooth autosomique dominante type 2S | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 9994581000172118 | neuropathie sensitivomotrice héréditaire de type 2S | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 9994591000172115 | maladie de Charcot-Marie-Tooth axonale autosomique dominante de type 2S | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 7385941000172118 | hereditaire motorische en sensorische neuropathie type 2S | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 7385951000172116 | ziekte van Charcot-Marie-Tooth type 2S | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Charcot-Marie-Tooth disease type 2S | Is a | Autosomal recessive Charcot-Marie-Tooth disease type 2 | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease type 2S | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 2 | |
| Charcot-Marie-Tooth disease type 2S | Finding site | Nerve structure | true | Inferred relationship | Some | 1 | |
| Charcot-Marie-Tooth disease type 2S | Associated morphology | Atrophy | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR