Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2022. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4674379018 | Autosomal dominant Charcot-Marie-Tooth disease type 2V (disorder) | en | Fully specified name | Active | Only initial character case insensitive | SNOMED CT core module |
| 4674380015 | Autosomal dominant Charcot-Marie-Tooth disease type 2V | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 4674381016 | Hereditary adult onset painful axonal polyneuropathy | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 4674382011 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 4674383018 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU (N-acetyl-alpha-glucosaminidase) 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 2V | Is a | Autosomal dominant Charcot-Marie-Tooth disease type 2 | true | Inferred relationship | Existential restriction modifier | ||
| Autosomal dominant Charcot-Marie-Tooth disease type 2V | Finding site | Peripheral nervous system structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2V | Finding site | Nerve structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2V | Associated morphology | Atrophy | true | Inferred relationship | Existential restriction modifier | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR