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 |
| 3303350014 | Charcot-Marie-Tooth disease and deafness | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3303351013 | Charcot-Marie-Tooth disease type IE (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3303352018 | Charcot-Marie-Tooth disease type IE | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3303353011 | Charcot-Marie-Tooth disease type 1E | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401025012 | A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401026013 | A rare subtype of CMT1 characterised by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients. | 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 IE (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease type IE (disorder) | Is a | Charcot-Marie-Tooth disease, type I (disorder) | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease type IE (disorder) | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 2 | |
| Charcot-Marie-Tooth disease type IE (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 1 | |
| Charcot-Marie-Tooth disease type IE (disorder) | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease type IE (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR