1332157006: Self-limited infantile epilepsy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\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.\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.
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\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.\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.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\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.\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.
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\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.\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.
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\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.\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.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\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.\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.
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\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.\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.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\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.\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.
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.\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.\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.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Aug 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5362259013	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5362260015	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 behavioural 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5349090013	SeLIE - self-limited infantile epilepsy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5349091012	Self-limited infantile epilepsy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5349092017	Self-limited infantile epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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