Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4634894016 | Autosomal dominant Charcot-Marie-Tooth disease type 2W | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4634895015 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4634896019 | Autosomal dominant Charcot-Marie-Tooth disease type 2W (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4634897011 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS (histidyl-tRNA synthetase 1) mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4634898018 | A rare predominantly axonal hereditary motor and sensory neuropathy with characteristics of broad phenotypic spectrum of slowly progressive signs and symptoms mainly affecting the lower limbs. Most patients present with gait difficulties and distal sensory impairment while some may lack sensory symptoms altogether. Pes cavus is frequently reported. Age of onset is also highly variable ranging from childhood to late adulthood. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 10034571000172116 | maladie de Charcot-Marie-Tooth autosomique dominante de type 2W | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 7542091000172113 | autosomaal dominante CMT2W | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 7542101000172117 | autosomaal dominante ziekte van Charcot-Marie-Tooth type 2W | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 7542111000172119 | autosomaal dominante motorische en sensorische neuropathie type 2W | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 7542121000172112 | autosomaal dominante HMSN2W | 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 |
| Autosomal dominant Charcot-Marie-Tooth disease type 2W | Is a | Autosomal dominant Charcot-Marie-Tooth disease type 2 | true | Inferred relationship | Some | ||
| Autosomal dominant Charcot-Marie-Tooth disease type 2W | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 2 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2W | Finding site | Nerve structure | true | Inferred relationship | Some | 1 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2W | 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