Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3755558019 | Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3755559010 | Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3755560017 | Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
| 3755445018 | A rare subtype of axonal hereditary motor and sensory neuropathy with characteristics of distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement, hypo/areflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy. There is evidence this disease is caused by heterozygous mutation in the DCAF8 gene on chromosome 1q23. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons | Is a | Autosomal dominant hereditary disorder | false | Inferred relationship | Some | ||
| Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons | Finding site | Nerve structure | true | Inferred relationship | Some | 1 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons | Is a | Charcot-Marie-Tooth disease, type II | false | Inferred relationship | Some | ||
| Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons | Associated morphology | Atrophy | true | Inferred relationship | Some | 1 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 2 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons | Is a | Autosomal dominant Charcot-Marie-Tooth disease type 2 | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR