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 |
| 1013901000172115 | CMT4X - Charcot-Marie-Tooth disease type 4, X-linked | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3642048013 | Cowchock syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3642049017 | X-linked Charcot-Marie-Tooth disease type 4 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3642050017 | X-linked Charcot-Marie-Tooth disease type 4 (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 766041000241119 | maladie de Charcot-Marie-Tooth liée à l'X type 4 (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 872151000172118 | maladie de Charcot-Marie-Tooth liée à l'X type 4 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3642069010 | A rare genetic axonal peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the neonatal to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group) as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype. The disease is caused by mutation in the AIFM1 gene on chromosome Xq26. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked Charcot-Marie-Tooth disease type 4 | est un(e) (attribut) | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked Charcot-Marie-Tooth disease type 4 | est un(e) (attribut) | X-linked hereditary motor and sensory neuropathy | true | Inferred relationship | Some | ||
| X-linked Charcot-Marie-Tooth disease type 4 | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| X-linked Charcot-Marie-Tooth disease type 4 | localisation d'une constatation (attribut) | structure du système nerveux périphérique | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR