Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3728134014 | Charcot-Marie-Tooth disease type 2R | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3728135010 | Charcot-Marie-Tooth disease type 2R (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3728136011 | A rare subtype of axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3728137019 | A rare subtype of axonal hereditary motor and sensory neuropathy characterised by early-onset axial hypotonia, generalised muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q. | 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 2R | Associated morphology | Atrophy | true | Inferred relationship | Some | 1 | |
| Charcot-Marie-Tooth disease type 2R | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease type 2R | Is a | Charcot-Marie-Tooth disease, type II (disorder) | false | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease type 2R | Finding site | Nerve structure | true | Inferred relationship | Some | 1 | |
| Charcot-Marie-Tooth disease type 2R | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 2 | |
| Charcot-Marie-Tooth disease type 2R | Is a | Autosomal recessive 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