FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
|
FHIR Version n/a
User: [n/a]
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
|
FHIR Version n/a
User: [n/a]
Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5362255019 | A group of epilepsies characterized by age-dependent occurrence of drug responsive focal seizures in otherwise normal children. Seizures are focal motor or sensory with or without impaired awareness and may evolve to bilateral tonic-clonic seizures. Remission usually occurs by puberty. Development and cognition are typically normal. Neurological examination is normal. No significant structural lesions of the brain are present, and presumed genetic factors have an important role. The electroencephalogram (EEG) background activity is normal. Seizure semiology and EEG features are specific for each of the syndromes included in this group. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5362256018 | A group of epilepsies characterised by age-dependent occurrence of drug responsive focal seizures in otherwise normal children. Seizures are focal motor or sensory with or without impaired awareness and may evolve to bilateral tonic-clonic seizures. Remission usually occurs by puberty. Development and cognition are typically normal. Neurological examination is normal. No significant structural lesions of the brain are present, and presumed genetic factors have an important role. The electroencephalogram (EEG) background activity is normal. Seizure semiology and EEG features are specific for each of the syndromes included in this group. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5348006019 | Self-limited focal epilepsy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5348007011 | Self-limited focal epilepsy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5348008018 | SeLFE - self-limited focal epilepsy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4440911000241110 | épilepsie focale bénigne de l'enfance | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A group of epilepsies characterized by age-dependent occurrence of drug responsive focal seizures in otherwise normal children. Seizures are focal motor or sensory with or without impaired awareness and may evolve to bilateral tonic-clonic seizures. Remission usually occurs by puberty. Development and cognition are typically normal. Neurological examination is normal. No significant structural lesions of the brain are present, and presumed genetic factors have an important role. The electroencephalogram (EEG) background activity is normal. Seizure semiology and EEG features are specific for each of the syndromes included in this group. | Is a | epilessia idiopatica correlata a localizzazione | false | Inferred relationship | Some | ||
| A group of epilepsies characterized by age-dependent occurrence of drug responsive focal seizures in otherwise normal children. Seizures are focal motor or sensory with or without impaired awareness and may evolve to bilateral tonic-clonic seizures. Remission usually occurs by puberty. Development and cognition are typically normal. Neurological examination is normal. No significant structural lesions of the brain are present, and presumed genetic factors have an important role. The electroencephalogram (EEG) background activity is normal. Seizure semiology and EEG features are specific for each of the syndromes included in this group. | Is a | An epileptic seizure originating within networks limited to one hemisphere. They may be discretely localised or more widely distributed. Focal seizures may originate in subcortical structures. | false | Inferred relationship | Some | ||
| A group of epilepsies characterized by age-dependent occurrence of drug responsive focal seizures in otherwise normal children. Seizures are focal motor or sensory with or without impaired awareness and may evolve to bilateral tonic-clonic seizures. Remission usually occurs by puberty. Development and cognition are typically normal. Neurological examination is normal. No significant structural lesions of the brain are present, and presumed genetic factors have an important role. The electroencephalogram (EEG) background activity is normal. Seizure semiology and EEG features are specific for each of the syndromes included in this group. | 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. | false | Inferred relationship | Some | 2 | |
| A group of epilepsies characterized by age-dependent occurrence of drug responsive focal seizures in otherwise normal children. Seizures are focal motor or sensory with or without impaired awareness and may evolve to bilateral tonic-clonic seizures. Remission usually occurs by puberty. Development and cognition are typically normal. Neurological examination is normal. No significant structural lesions of the brain are present, and presumed genetic factors have an important role. The electroencephalogram (EEG) background activity is normal. Seizure semiology and EEG features are specific for each of the syndromes included in this group. | Has definitional manifestation | Partial seizure | false | Inferred relationship | Some | ||
| A group of epilepsies characterized by age-dependent occurrence of drug responsive focal seizures in otherwise normal children. Seizures are focal motor or sensory with or without impaired awareness and may evolve to bilateral tonic-clonic seizures. Remission usually occurs by puberty. Development and cognition are typically normal. Neurological examination is normal. No significant structural lesions of the brain are present, and presumed genetic factors have an important role. The electroencephalogram (EEG) background activity is normal. Seizure semiology and EEG features are specific for each of the syndromes included in this group. | Occurrence | Childhood | false | Inferred relationship | Some | 1 | |
| A group of epilepsies characterized by age-dependent occurrence of drug responsive focal seizures in otherwise normal children. Seizures are focal motor or sensory with or without impaired awareness and may evolve to bilateral tonic-clonic seizures. Remission usually occurs by puberty. Development and cognition are typically normal. Neurological examination is normal. No significant structural lesions of the brain are present, and presumed genetic factors have an important role. The electroencephalogram (EEG) background activity is normal. Seizure semiology and EEG features are specific for each of the syndromes included in this group. | Has definitional manifestation | Seizure | false | Inferred relationship | Some | ||
| A group of epilepsies characterized by age-dependent occurrence of drug responsive focal seizures in otherwise normal children. Seizures are focal motor or sensory with or without impaired awareness and may evolve to bilateral tonic-clonic seizures. Remission usually occurs by puberty. Development and cognition are typically normal. Neurological examination is normal. No significant structural lesions of the brain are present, and presumed genetic factors have an important role. The electroencephalogram (EEG) background activity is normal. Seizure semiology and EEG features are specific for each of the syndromes included in this group. | Is a | A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations. | true | Inferred relationship | Some | ||
| A group of epilepsies characterized by age-dependent occurrence of drug responsive focal seizures in otherwise normal children. Seizures are focal motor or sensory with or without impaired awareness and may evolve to bilateral tonic-clonic seizures. Remission usually occurs by puberty. Development and cognition are typically normal. Neurological examination is normal. No significant structural lesions of the brain are present, and presumed genetic factors have an important role. The electroencephalogram (EEG) background activity is normal. Seizure semiology and EEG features are specific for each of the syndromes included in this group. | Finding site | Brain structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| épilepsie bénigne frontale de l'enfance | Is a | False | A group of epilepsies characterized by age-dependent occurrence of drug responsive focal seizures in otherwise normal children. Seizures are focal motor or sensory with or without impaired awareness and may evolve to bilateral tonic-clonic seizures. Remission usually occurs by puberty. Development and cognition are typically normal. Neurological examination is normal. No significant structural lesions of the brain are present, and presumed genetic factors have an important role. The electroencephalogram (EEG) background activity is normal. Seizure semiology and EEG features are specific for each of the syndromes included in this group. | Inferred relationship | Some | |
| épilepsie psychomotrice bénigne de l'enfance | Is a | False | A group of epilepsies characterized by age-dependent occurrence of drug responsive focal seizures in otherwise normal children. Seizures are focal motor or sensory with or without impaired awareness and may evolve to bilateral tonic-clonic seizures. Remission usually occurs by puberty. Development and cognition are typically normal. Neurological examination is normal. No significant structural lesions of the brain are present, and presumed genetic factors have an important role. The electroencephalogram (EEG) background activity is normal. Seizure semiology and EEG features are specific for each of the syndromes included in this group. | Inferred relationship | Some | |
| Benign atypical partial epilepsy in childhood | Is a | True | A group of epilepsies characterized by age-dependent occurrence of drug responsive focal seizures in otherwise normal children. Seizures are focal motor or sensory with or without impaired awareness and may evolve to bilateral tonic-clonic seizures. Remission usually occurs by puberty. Development and cognition are typically normal. Neurological examination is normal. No significant structural lesions of the brain are present, and presumed genetic factors have an important role. The electroencephalogram (EEG) background activity is normal. Seizure semiology and EEG features are specific for each of the syndromes included in this group. | Inferred relationship | Some | |
| Epilepsy with recurrent unilateral seizures in children | Is a | False | A group of epilepsies characterized by age-dependent occurrence of drug responsive focal seizures in otherwise normal children. Seizures are focal motor or sensory with or without impaired awareness and may evolve to bilateral tonic-clonic seizures. Remission usually occurs by puberty. Development and cognition are typically normal. Neurological examination is normal. No significant structural lesions of the brain are present, and presumed genetic factors have an important role. The electroencephalogram (EEG) background activity is normal. Seizure semiology and EEG features are specific for each of the syndromes included in this group. | Inferred relationship | Some | |
| épilepsie de l'enfance avec paroxysmes occipitaux | Is a | False | A group of epilepsies characterized by age-dependent occurrence of drug responsive focal seizures in otherwise normal children. Seizures are focal motor or sensory with or without impaired awareness and may evolve to bilateral tonic-clonic seizures. Remission usually occurs by puberty. Development and cognition are typically normal. Neurological examination is normal. No significant structural lesions of the brain are present, and presumed genetic factors have an important role. The electroencephalogram (EEG) background activity is normal. Seizure semiology and EEG features are specific for each of the syndromes included in this group. | Inferred relationship | Some | |
| Recurrent benign focal seizures of childhood | Is a | False | A group of epilepsies characterized by age-dependent occurrence of drug responsive focal seizures in otherwise normal children. Seizures are focal motor or sensory with or without impaired awareness and may evolve to bilateral tonic-clonic seizures. Remission usually occurs by puberty. Development and cognition are typically normal. Neurological examination is normal. No significant structural lesions of the brain are present, and presumed genetic factors have an important role. The electroencephalogram (EEG) background activity is normal. Seizure semiology and EEG features are specific for each of the syndromes included in this group. | Inferred relationship | Some | |
| 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. | Is a | True | A group of epilepsies characterized by age-dependent occurrence of drug responsive focal seizures in otherwise normal children. Seizures are focal motor or sensory with or without impaired awareness and may evolve to bilateral tonic-clonic seizures. Remission usually occurs by puberty. Development and cognition are typically normal. Neurological examination is normal. No significant structural lesions of the brain are present, and presumed genetic factors have an important role. The electroencephalogram (EEG) background activity is normal. Seizure semiology and EEG features are specific for each of the syndromes included in this group. | Inferred relationship | Some | |
| A type of self-limited focal epilepsy with onset of focal seizures in infancy (peak age six months; range three to twenty months). Focal seizure semiology includes behavioral arrest, cyanosis, staring with impaired awareness, automatisms, head/eye version and clonic movements. Individual focal clonic seizures originating from either hemisphere may occur in the same child and can progress to become focal to bilateral tonic-clonic seizures. Seizures are usually brief (less than three minutes). Seizures are often frequent (five to ten per day over one to three days) and may be difficult to control at onset. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background activity is normal but can have focal background slowing postictally. The interictal EEG is normal but can have midline spikes during slow sleep. MRI is normal or has nonspecific findings. Pathogenic variants in the PRRT2 gene are most commonly identified. Pathogenic variants in SCN2A, KCNQ2, KCNQ3 and SCN8A genes are causative in some individuals. | Is a | True | A group of epilepsies characterized by age-dependent occurrence of drug responsive focal seizures in otherwise normal children. Seizures are focal motor or sensory with or without impaired awareness and may evolve to bilateral tonic-clonic seizures. Remission usually occurs by puberty. Development and cognition are typically normal. Neurological examination is normal. No significant structural lesions of the brain are present, and presumed genetic factors have an important role. The electroencephalogram (EEG) background activity is normal. Seizure semiology and EEG features are specific for each of the syndromes included in this group. | Inferred relationship | Some | |
| A type of self-limited focal epilepsy with onset typically between day two and seven of life. Seizures are focal tonic at onset, affecting the head, face, and limbs. Focal clonic or tonic seizures may evolve to bilateral tonic or clonic seizures. Onset may alternate between hemispheres. Autonomic features (apnea and cyanosis) are present in one third of seizures and may be the predominant manifestation. Seizure semiology may progress in a sequential pattern with tonic, clonic, myoclonic and autonomic features following each other without a single predominant feature. Clusters of seizures may occur over hours or days with the neonate behaving normally between events. Developmental progress is usually normal. The electroencephalogram (EEG) background is normal or has minor nonspecific abnormalities. Focal interictal epileptiform abnormalities can be seen in the central, centrotemporal or frontotemporal regions. MRI is normal or has nonspecific findings. Pathogenic variants are seen in KCNQ2, KCNQ3 and SCN2A. | Is a | True | A group of epilepsies characterized by age-dependent occurrence of drug responsive focal seizures in otherwise normal children. Seizures are focal motor or sensory with or without impaired awareness and may evolve to bilateral tonic-clonic seizures. Remission usually occurs by puberty. Development and cognition are typically normal. Neurological examination is normal. No significant structural lesions of the brain are present, and presumed genetic factors have an important role. The electroencephalogram (EEG) background activity is normal. Seizure semiology and EEG features are specific for each of the syndromes included in this group. | Inferred relationship | Some | |
| A rare genetic neurological disorder characterised by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalised convulsion. Autonomic status epilepticus may be the only clinical event in some cases. | Is a | True | A group of epilepsies characterized by age-dependent occurrence of drug responsive focal seizures in otherwise normal children. Seizures are focal motor or sensory with or without impaired awareness and may evolve to bilateral tonic-clonic seizures. Remission usually occurs by puberty. Development and cognition are typically normal. Neurological examination is normal. No significant structural lesions of the brain are present, and presumed genetic factors have an important role. The electroencephalogram (EEG) background activity is normal. Seizure semiology and EEG features are specific for each of the syndromes included in this group. | Inferred relationship | Some | |
| Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures. So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant. | Is a | True | A group of epilepsies characterized by age-dependent occurrence of drug responsive focal seizures in otherwise normal children. Seizures are focal motor or sensory with or without impaired awareness and may evolve to bilateral tonic-clonic seizures. Remission usually occurs by puberty. Development and cognition are typically normal. Neurological examination is normal. No significant structural lesions of the brain are present, and presumed genetic factors have an important role. The electroencephalogram (EEG) background activity is normal. Seizure semiology and EEG features are specific for each of the syndromes included in this group. | Inferred relationship | Some | |
| Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterised by the occurrence of seizures during the first year of life and choreoathetotic dyskinetic attacks during childhood or adolescence. | Is a | True | A group of epilepsies characterized by age-dependent occurrence of drug responsive focal seizures in otherwise normal children. Seizures are focal motor or sensory with or without impaired awareness and may evolve to bilateral tonic-clonic seizures. Remission usually occurs by puberty. Development and cognition are typically normal. Neurological examination is normal. No significant structural lesions of the brain are present, and presumed genetic factors have an important role. The electroencephalogram (EEG) background activity is normal. Seizure semiology and EEG features are specific for each of the syndromes included in this group. | Inferred relationship | Some |
This concept is not in any reference sets