Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2021. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4635253012 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 4635254018 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation (disorder) | en | Fully specified name | Active | Only initial character case insensitive | SNOMED CT core module |
| 4635255017 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 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 diacylglycerol O-acyltransferase 2 mutation | Is a | Autosomal dominant Charcot-Marie-Tooth disease type 2 | true | Inferred relationship | Existential restriction modifier | ||
| Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation | Is a | Chronic nervous system disorder | true | Inferred relationship | Existential restriction modifier | ||
| Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation | Is a | Peripheral nerve disease | true | Inferred relationship | Existential restriction modifier | ||
| Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation | Clinical course | Progressive | true | Inferred relationship | Existential restriction modifier | 2 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation | Finding site | Peripheral nerve structure | true | Inferred relationship | Existential restriction modifier | 3 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation | Finding site | Nerve structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation | 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