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 |
| 4674162018 | Autosomal recessive Charcot-Marie-Tooth disease type 2X | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4674163011 | Autosomal recessive Charcot-Marie-Tooth disease type 2X (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4674164017 | Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 (SPG11 vesicle trafficking associated, spatacsin) mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4674165016 | Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4674166015 | A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 10066841000172110 | maladie de Charcot-Marie-Tooth autosomique récessive de type 2X | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 7362451000172118 | autosomaal recessieve CMT 2 door mutatie van gen voor 'SPG11 vesicle trafficking associated, spatacsin' | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 7362461000172116 | autosomaal recessieve motorische en sensorische neuropathie type 2X | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 7362471000172113 | autosomaal recessieve HMSN 2X | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 7362481000172111 | autosomaal recessieve ziekte van Charcot-Marie-Tooth type 2 door SPG11-mutatie | 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 recessive Charcot-Marie-Tooth disease type 2X | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive Charcot-Marie-Tooth disease type 2X | Is a | Autosomal recessive Charcot-Marie-Tooth disease type 2 | true | Inferred relationship | Some | ||
| Autosomal recessive Charcot-Marie-Tooth disease type 2X | Finding site | Nerve structure | true | Inferred relationship | Some | 2 | |
| Autosomal recessive Charcot-Marie-Tooth disease type 2X | Associated morphology | Atrophy | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR