1231282002: Benign familial neonatal-infantile seizures (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Benign familial neonatal-infantile seizures (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Partial seizure\Benign familial neonatal-infantile seizures (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Benign familial neonatal-infantile seizures (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Partial seizure\Benign familial neonatal-infantile seizures (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Benign familial neonatal-infantile seizures (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Partial seizure\Benign familial neonatal-infantile seizures (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Benign familial neonatal-infantile seizures (disorder)
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Partial seizure\Benign familial neonatal-infantile seizures (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Benign familial neonatal-infantile seizures (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Partial seizure\Benign familial neonatal-infantile seizures (disorder)
• \affection de la tête\Disorder of brain (disorder)\trouble convulsif\...
• \Epilepsy\Benign familial neonatal-infantile seizures (disorder)
• \Partial seizure\Benign familial neonatal-infantile seizures (disorder)
• \Neurological finding\Seizure related finding\convulsion\trouble convulsif\...
• \Epilepsy\Benign familial neonatal-infantile seizures (disorder)
• \Partial seizure\Benign familial neonatal-infantile seizures (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Benign familial neonatal-infantile seizures (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Benign familial neonatal-infantile seizures (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Benign familial neonatal-infantile seizures (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Benign familial neonatal-infantile seizures (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Benign familial neonatal-infantile seizures (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Partial seizure\Benign familial neonatal-infantile seizures (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Benign familial neonatal-infantile seizures (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Partial seizure\Benign familial neonatal-infantile seizures (disorder)

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
5072039016	Benign familial neonatal-infantile seizures (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5072040019	BFNIS - benign familial neonatal-infantile seizures	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5072041015	Benign neonatal-infantile epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (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
5072043017	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 (BFIS). 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

Expanded Value Set

This concept is not in any reference sets

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