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230410004: Self-limited familial neonatal epilepsy (disorder)

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
345270013 Benign neonatal epilepsy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
345270013 Benign neonatal epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
345271012 BFNC - Benign familial neonatal convulsions en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
345272017 Benign neonatal familial convulsions en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
345272017 Benign neonatal familial convulsions en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
618214010 Benign neonatal familial convulsions (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
618214010 Benign neonatal familial convulsions (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2790145017 Benign familial infantile convulsions en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2790145017 Benign familial infantile 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
3435261001000116 Benigne familiäre Neugeborenenepilepsie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
214551000172117 épilepsie néonatale familiale bénigne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
214551000172117 épilepsie néonatale familiale bénigne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3435261001000116 Benigne familiäre Neugeborenenepilepsie 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 epilepsy Is a Idiopathic generalized epilepsy false Inferred relationship Existential restriction modifier (core metadata concept)
Self-limited familial neonatal epilepsy Is a Self-limited neonatal epilepsy true Inferred relationship Existential restriction modifier (core metadata concept)
Self-limited familial neonatal epilepsy Occurrence Neonatal true Inferred relationship Existential restriction modifier (core metadata concept) 1
Self-limited familial neonatal 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) 2
Self-limited familial neonatal epilepsy Occurrence Perinatal state false Inferred relationship Existential restriction modifier (core metadata concept)
Self-limited familial neonatal epilepsy Occurrence période périnatale false Inferred relationship Existential restriction modifier (core metadata concept)
Self-limited familial neonatal epilepsy Has definitional manifestation Seizure false Inferred relationship Existential restriction modifier (core metadata concept)
Self-limited familial neonatal epilepsy Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Self-limited familial neonatal epilepsy Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Self-limited familial neonatal 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. true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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