Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4635253012 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 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 (core metadata concept) | SNOMED CT core |
| 4635255017 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 13111001000146113 | autosomaal dominante CMT2 door DGAT2-mutatie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13111011000146110 | autosomaal dominante motorische en sensorische neuropathie type 2 door mutatie van diacylglycerol-O-acyltransferase 2 (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13111021000146117 | autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 door DGAT2-mutatie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13111121000146118 | autosomaal dominante HMSN2 door DGAT2-mutatie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13291551000146118 | autosomaal dominante motorische en sensorische neuropathie type 2 door DGAT2-mutatie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13291561000146115 | autosomaal dominante motorische en sensorische neuropathie type 2 door mutatie van diacylglycerol-O-acyltransferase 2 | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 4635261019 | A rare autosomal dominant hereditary axonal motor and sensory neuropathy with characteristics of childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation | Is a | Autosomal dominant Charcot-Marie-Tooth disease type 2 | true | Inferred relationship | Some | ||
| Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation | Is a | Chronic nervous system disorder (disorder) | true | Inferred relationship | Some | ||
| Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation | Is a | Peripheral nerve disease | true | Inferred relationship | Some | ||
| Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation | Finding site | Peripheral nerve structure | true | Inferred relationship | Some | 3 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation | Finding site | Nerve structure | true | Inferred relationship | Some | 1 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation | Associated morphology | Atrophy | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set
FHIR