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 |
| 6381721000146117 | hereditaire motorische en sensorische neuropathie type 4F | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6381731000146115 | hereditaire motorische en sensorische neuropathie type 4F (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6381741000146111 | HMSN 4F | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6381751000146114 | CMT 4F | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6381761000146112 | ziekte van Charcot-Marie-Tooth type 4F | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained 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) | Is a | Charcot-Marie-Tooth disease type 4 (disorder) | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease type 4F (disorder) | Finding site | Peripheral nervous system structure | false | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease type 4F (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Charcot-Marie-Tooth disease type 4F (disorder) | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set
FHIR