230410004: Self-limited familial neonatal epilepsy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Focal epilepsy\Self-limited focal epilepsy\Self-limited neonatal epilepsy (disorder)\Self-limited familial neonatal epilepsy
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Focal epilepsy\Self-limited focal epilepsy\Self-limited neonatal epilepsy (disorder)\Self-limited familial neonatal epilepsy
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Focal epilepsy\Self-limited focal epilepsy\Self-limited neonatal epilepsy (disorder)\Self-limited familial neonatal epilepsy
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Focal epilepsy\Self-limited focal epilepsy\Self-limited neonatal epilepsy (disorder)\Self-limited familial neonatal epilepsy
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Focal epilepsy\Self-limited focal epilepsy\Self-limited neonatal epilepsy (disorder)\Self-limited familial neonatal epilepsy
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Focal epilepsy\Self-limited focal epilepsy\Self-limited neonatal epilepsy (disorder)\Self-limited familial neonatal epilepsy
• \Finding of neonate\Neonatal disorder\Self-limited neonatal epilepsy (disorder)\Self-limited familial neonatal epilepsy
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Focal epilepsy\Self-limited focal epilepsy\Self-limited neonatal epilepsy (disorder)\Self-limited familial neonatal epilepsy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Self-limited familial neonatal epilepsy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Self-limited familial neonatal epilepsy
• \Disease\Disorder of foetus and/or newborn\Neonatal disorder\Self-limited neonatal epilepsy (disorder)\Self-limited familial neonatal epilepsy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Self-limited familial neonatal epilepsy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Self-limited familial neonatal epilepsy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Focal epilepsy\Self-limited focal epilepsy\Self-limited neonatal epilepsy (disorder)\Self-limited familial neonatal epilepsy
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Focal epilepsy\Self-limited focal epilepsy\Self-limited neonatal epilepsy (disorder)\Self-limited familial neonatal epilepsy

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
345272017	Benign neonatal familial convulsions	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5362846011	Self-limited familial neonatal epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5362847019	Self-limited familial neonatal epilepsy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5362848012	SeLFNE - self-limited familial neonatal epilepsy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5362849016	A familial 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) can be seen. 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 can 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5363050010	A familial 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 (apnoea and cyanosis) can be seen. 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 can 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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