Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 2968484012 | ADNFLE - Autosomal dominant nocturnal frontal lobe epilepsy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 2968500015 | Autosomal dominant nocturnal frontal lobe epilepsy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5348009014 | Familial sleep-related hypermotor epilepsy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5348010016 | Autosomal dominant sleep-related hypermotor epilepsy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5348011017 | Autosomal dominant sleep-related hyperkinetic epilepsy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5348012012 | ADSHE - Autosomal dominant sleep-related hypermotor epilepsy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5383439014 | Familial sleep-related hypermotor epilepsy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5362248016 | A type of familial frontal lobe epilepsy where individuals present with clusters of motor seizures occurring from sleep, with usual onset in the first two decades of life, typically in adolescence (eleven to fourteen years). Focal motor seizures have hyperkinetic features or asymmetric tonic/dystonic features, usually with autonomic signs, vocalization, and negative emotional expression such as fear. Seizures are brief, with abrupt onset/offset, and there is often preserved awareness during the seizure. Individuals may describe a focal aware sensory or cognitive seizure before the motor features commence. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background is typically normal. The awake EEG is non epileptiform in most patients. During sleep, interictal epileptiform abnormalities are seen over the frontal areas in approximately 50% of patients. Neuroimaging is usually normal. There is a family history of sleep-related hypermotor epilepsy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5362249012 | A type of familial frontal lobe epilepsy where individuals present with clusters of motor seizures occurring from sleep, with usual onset in the first two decades of life, typically in adolescence (eleven to fourteen years). Focal motor seizures have hyperkinetic features or asymmetric tonic/dystonic features, usually with autonomic signs, vocalisation, and negative emotional expression such as fear. Seizures are brief, with abrupt onset/offset, and there is often preserved awareness during the seizure. Individuals may describe a focal aware sensory or cognitive seizure before the motor features commence. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background is typically normal. The awake EEG is non epileptiform in most patients. During sleep, interictal epileptiform abnormalities are seen over the frontal areas in approximately 50% of patients. Neuroimaging is usually normal. There is a family history of sleep-related hypermotor epilepsy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Familial sleep-related hypermotor epilepsy (disorder) | Is a | Frontal lobe epilepsy | false | Inferred relationship | Some | ||
| Familial sleep-related hypermotor epilepsy (disorder) | Finding site | Frontal lobe structure | true | Inferred relationship | Some | 1 | |
| Familial sleep-related hypermotor epilepsy (disorder) | Has definitional manifestation | Seizure | false | Inferred relationship | Some | ||
| Familial sleep-related hypermotor epilepsy (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Familial sleep-related hypermotor epilepsy (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Familial sleep-related hypermotor epilepsy (disorder) | Is a | Sleep-related hypermotor epilepsy (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR