Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3642509015 | X-linked Charcot-Marie-Tooth disease type 1 | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3642510013 | X-linked Charcot-Marie-Tooth disease type 1 (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
| 3642514016 | A rare genetic, peripheral sensorimotor neuropathy with an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported. The disease is caused by hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked Charcot-Marie-Tooth disease type 1 | Is a | X-linked dominant hereditary disease | true | Inferred relationship | Some | ||
| X-linked Charcot-Marie-Tooth disease type 1 | Is a | X-linked hereditary motor and sensory neuropathy | true | Inferred relationship | Some | ||
| X-linked Charcot-Marie-Tooth disease type 1 | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| X-linked Charcot-Marie-Tooth disease type 1 | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 1 |
| 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