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1231282002: Self-limited familial neonatal-infantile epilepsy (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
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
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
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
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
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
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
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
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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Self-limited familial neonatal-infantile epilepsy Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Self-limited familial neonatal-infantile epilepsy Is a Focal onset epileptic seizure (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
Self-limited familial neonatal-infantile epilepsy Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Self-limited familial neonatal-infantile epilepsy Is a Epilepsy false Inferred relationship Existential restriction modifier (core metadata concept)
Self-limited familial neonatal-infantile epilepsy Occurrence Infancy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Self-limited familial neonatal-infantile epilepsy 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 Existential restriction modifier (core metadata concept) 1
Self-limited familial neonatal-infantile epilepsy Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Self-limited familial neonatal-infantile epilepsy Is a Self-limited focal epilepsy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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