Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3308729017 | Benign adult familial myoclonic epilepsy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3308730010 | Benign adult familial myoclonic epilepsy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3308731014 | BAFME - Benign adult familial myoclonic epilepsy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3308732019 | Autosomal dominant cortical myoclonus and epilepsy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3308733012 | Benign adult familial myoclonus epilepsy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3308734018 | An inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. Usually presents in the second decade of life with a minor cortical hand tremor. Mapped to at least 4 different chromosomal loci. Transmitted autosomal dominantly and penetrance is high | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3308735017 | An inherited epileptic syndrome characterised by cortical hand tremors, myoclonic jerks and occasional generalised or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. Usually presents in the second decade of life with a minor cortical hand tremor. Mapped to at least 4 different chromosomal loci. Transmitted autosomal dominantly and penetrance is high | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Benign adult familial myoclonic epilepsy (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Benign adult familial myoclonic epilepsy (disorder) | Is a | Myoklonusanfald | false | Inferred relationship | Some | ||
| Benign adult familial myoclonic epilepsy (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Benign adult familial myoclonic epilepsy (disorder) | Occurrence | Adulthood | true | Inferred relationship | Some | 1 | |
| Benign adult familial myoclonic epilepsy (disorder) | Finding site | Cerebrum | false | Inferred relationship | Some | 2 | |
| Benign adult familial myoclonic epilepsy (disorder) | Has definitional manifestation | Seizure | false | Inferred relationship | Some | ||
| Benign adult familial myoclonic epilepsy (disorder) | Interprets | Movement | false | Inferred relationship | Some | 3 | |
| Benign adult familial myoclonic epilepsy (disorder) | Is a | Generalized epilepsy | false | Inferred relationship | Some | ||
| Benign adult familial myoclonic epilepsy (disorder) | Is a | Epilepsy | true | Inferred relationship | Some | ||
| Benign adult familial myoclonic epilepsy (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR