1231282002: Self-limited familial neonatal-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.\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.
• \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.\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.
• \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.\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.
• \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.\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.
• \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.\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.
• \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.\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.
• \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.\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.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\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.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\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.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\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.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\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.
• \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.\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.
• \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.\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.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5400195012	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5072044011	Benign familial neonatal-infantile seizures	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5378761012	SeLFNIE - self-limited familial neonatal-infantile epilepsy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5378762017	Self-limited familial neonatal-infantile epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5378763010	Self-limited familial neonatal-infantile epilepsy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2369791000195119	SeLFNIE - selbstbegrenzte familiäre neonatale-infantile Epilepsie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3428861001000113	Krampfanfälle, benigne familiäre neonatal-infantile	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start