Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3702487015 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type F | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3702488013 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type F (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
| 3702489017 | A rare hereditary motor and sensory neuropathy disorder with characteristics of the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range. Caused by heterozygous mutation in the GNB4 gene on chromosome 3q26. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type F | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type F | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 1 | |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type F | Is a | Hereditary motor and sensory neuropathy | 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