Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3756088014 | Charcot-Marie-Tooth disease type 2P (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3756089018 | Charcot-Marie-Tooth disease type 2P | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3756090010 | CMT2P - Charcot-Marie-Tooth disease type 2P | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3756091014 | A rare genetic axonal hereditary motor and sensory neuropathy disorder with characteristics of adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated. The disease can be caused by homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33. | 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 2P (disorder) | Is a | Charcot-Marie-Tooth disease, type II (disorder) | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease type 2P (disorder) | Occurrence | Adulthood | true | Inferred relationship | Some | 2 | |
| Charcot-Marie-Tooth disease type 2P (disorder) | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease type 2P (disorder) | Is a | Chronic nervous system disorder (disorder) | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease type 2P (disorder) | Occurrence | Adulthood | true | Inferred relationship | Some | 1 | |
| Charcot-Marie-Tooth disease type 2P (disorder) | Finding site | Nerve structure | true | Inferred relationship | Some | 1 | |
| Charcot-Marie-Tooth disease type 2P (disorder) | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 2 | |
| Charcot-Marie-Tooth disease type 2P (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
| Charcot-Marie-Tooth disease type 2P (disorder) | Associated morphology | Atrophy | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR