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 |
| 3756102011 | Autosomal dominant Charcot-Marie-Tooth disease type 2O | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3756103018 | Autosomal dominant Charcot-Marie-Tooth disease type 2O (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3756105013 | A rare genetic subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity. Caused by heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant Charcot-Marie-Tooth disease type 2O | Is a | Autosomal dominant hereditary disorder | false | Inferred relationship | Some | ||
| Autosomal dominant Charcot-Marie-Tooth disease type 2O | Occurrence | Early childhood (qualifier value) | true | Inferred relationship | Some | 1 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2O | Is a | Charcot-Marie-Tooth disease, type II (disorder) | false | Inferred relationship | Some | ||
| Autosomal dominant Charcot-Marie-Tooth disease type 2O | Occurrence | Early childhood (qualifier value) | true | Inferred relationship | Some | 2 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2O | Finding site | Nerve structure | true | Inferred relationship | Some | 1 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2O | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 2 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2O | Associated morphology | Atrophy | true | Inferred relationship | Some | 1 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2O | Is a | Chronic nervous system disorder (disorder) | true | Inferred relationship | Some | ||
| Autosomal dominant Charcot-Marie-Tooth disease type 2O | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2O | Is a | Autosomal dominant Charcot-Marie-Tooth disease type 2 | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR