Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3655299010 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 3655300019 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation (disorder) | en | Fully specified name | Active | Only initial character case insensitive | SNOMED CT core module |
| 3655301015 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation | Is a | Autosomal dominant hereditary disorder | false | Inferred relationship | Existential restriction modifier | ||
| Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation | Is a | Charcot-Marie-Tooth disease, type II | false | Inferred relationship | Existential restriction modifier | ||
| Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation | Finding site | Peripheral nervous system structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation | Associated morphology | Atrophy | true | Inferred relationship | Existential restriction modifier | 1 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation | Finding site | Nerve structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation | Is a | Autosomal dominant Charcot-Marie-Tooth disease type 2 | true | Inferred relationship | Existential restriction modifier |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR