Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3303758017 | Charcot-Marie-Tooth disease type 4F (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3303759013 | Charcot-Marie-Tooth disease type 4F | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 748671000241114 | maladie de Charcot-Marie-Tooth type 4F (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 879211000172116 | CMT4F - Charcot-Marie-Tooth disease type 4F | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 953271000172118 | maladie de Charcot-Marie-Tooth type 4F | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3303760015 | Charcot-Marie-Tooth disease, type 4F (CMT4F) is a demyelinating CMT peripheral sensorimotor polyneuropathy. It is a rare form of CMT4 but the few reported families are from diverse ethnic groups: Lebanese Shiite Muslims, Hispanic North Americans, Northern Europeans and a Vietnamese family. Onset generally occurs in childhood but severity varies. Early onset with delayed motor milestones, and proximal and distal muscle weakness has been reported but a family in which the clinical picture was marked initially by sensory neuropathy has also been described. CMT4 is caused by mutations in the PRX gene (19q13.2). Transmitted in an autosomal recessive manner. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Charcot-Marie-Tooth disease type 4F (disorder) | est un(e) (attribut) | Charcot-Marie-Tooth disease type 4 (disorder) | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease type 4F (disorder) | localisation d'une constatation (attribut) | structure du système nerveux périphérique | false | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease type 4F (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Charcot-Marie-Tooth disease type 4F (disorder) | localisation d'une constatation (attribut) | structure du système nerveux périphérique | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR