Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2022. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5400206014 | A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5400207017 | A rare genetic epilepsy syndrome characterised by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5074073010 | Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5074088017 | Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3449481001000112 | Rolando-Epilepsie - paroxysmal anstrengungsinduzierte Dyskinesie - Schreibkrampf | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands. | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands. | Is a | A common type of self-limited focal epilepsy syndrome, which begins typically between four and ten years (peak is seven years; range three to twelve years). Seizures are focal, infrequent (most children have fewer than ten in lifetime), brief (typically less than two to three minutes) and occur mostly in sleep (eighty to ninety percent of children). Individuals may have frequent seizures over a few days or weeks and then several months before subsequent seizure. Focal seizures with characteristic frontoparietal opercular features and/or nocturnal bilateral tonic-clonic seizures are mandatory for diagnosis. Characteristic semiology includes somatosensory symptoms (unilateral numbness or paresthesia of the tongue, lips, gums and inner cheek), orofacial motor signs (unilateral tonic or clonic contractions), speech arrest (dysarthria or anarthria) with preserved understanding, and sialorrhea. Seizures may evolve rapidly to tonic-clonic activity of the ipsilateral upper limb, to an ipsilateral hemiclonic seizure, or to a focal to bilateral tonic-clonic seizure. Todd paresis may occur postictally. Seizures occurring during sleep are seen within one hour of falling asleep or one to two hours prior to awakening. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background activity is normal. EEG must show centrotemporal biphasic epileptiform discharges which are characteristically high-amplitude complexes (less than 200 microvolts, peak to trough) that activate in drowsiness and sleep. MRI is normal or has nonspecific findings. | true | Inferred relationship | Some | ||
A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands. | Interprets | mouvement | false | Inferred relationship | Some | 3 | |
A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands. | Finding site | Extrapyramidal system structure (body structure) | true | Inferred relationship | Some | 1 | |
A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands. | Finding site | The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. | true | Inferred relationship | Some | 2 | |
A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands. | Is a | Paroxysmal dystonia | true | Inferred relationship | Some | ||
A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands. | Clinical course | Paroxysmal | true | Inferred relationship | Some | 4 | |
A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands. | Interprets | Movement observable | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
Description inactivation indicator reference set