Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3642510013 | X-linked Charcot-Marie-Tooth disease type 1 (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6151711000146113 | X-gebonden hereditaire motorisch-sensibele neuropathie type 1 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6151721000146115 | X-gebonden hereditaire motorisch-sensibele neuropathie type 1 (aandoening) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6151731000146118 | X-gebonden ziekte van Charcot-Marie-Tooth type 1 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6151741000146114 | CMT1X | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6151761000146110 | X-gebonden HMSN type 1 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6152121000146111 | X-gebonden hereditaire motorisch-sensorische neuropathie type 1 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6152521000146118 | X-gebonden HMSN van demyeliniserend type | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 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 | |
| X-linked Charcot-Marie-Tooth disease type 1 | Is a | X-linked dominant hereditary disease (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR