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 |
| 3656361011 | SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3656362016 | Charcot-Marie-Tooth disease type 4K | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3656363014 | SURF1-related Charcot-Marie-Tooth disease type 4 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3656364015 | SURF1-related severe demyelinating Charcot-Marie-Tooth disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3656365019 | SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3656176011 | A subtype of Charcot-Marie-Tooth disease type 4 with characteristics of childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4154661000052114 | SURF1-relaterad Charcot-Marie-Tooths sjukdom, typ 4 | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 (disorder) | Is a | Charcot-Marie-Tooth disease type 4 (disorder) | true | Inferred relationship | Some | ||
| SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 (disorder) | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR