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38281008: benigne neonatale epileptische aanvallen (aandoening)


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
5352841016 Self-limited neonatal epilepsy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5352842011 Self-limited neonatal epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5352843018 SeLNE - self-limited neonatal epilepsy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
111911000146116 benigne neonatale convulsies nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12273251000146117 benigne neonatale epileptische aanvallen (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12273801000146117 benigne neonatale epileptische aanvallen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12288541000146117 benigne neonatale insulten nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
5362845010 A 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) are present in one third of seizures and may be the predominant manifestation. 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 may 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
5363051014 A 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) are present in one third of seizures and may be the predominant manifestation. 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 may 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


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Self-limited neonatal epilepsy (disorder) Is a Coma in the newborn false Inferred relationship Some
Self-limited neonatal epilepsy (disorder) Is a Generalized epilepsy false Inferred relationship Some
Self-limited neonatal epilepsy (disorder) Finding site Cerebrum false Inferred relationship Some 2
Self-limited neonatal epilepsy (disorder) Occurrence Perinatal state false Inferred relationship Some
Self-limited neonatal epilepsy (disorder) Occurrence Neonatal false Inferred relationship Some 1
Self-limited neonatal epilepsy (disorder) Is a Neonatal seizure (finding) false Inferred relationship Some
Self-limited neonatal epilepsy (disorder) Occurrence perinatale periode false Inferred relationship Some
Self-limited neonatal epilepsy (disorder) Has definitional manifestation Seizure false Inferred relationship Some
Self-limited neonatal epilepsy (disorder) Is a Epilepsy false Inferred relationship Some
Self-limited neonatal epilepsy (disorder) Is a Neonatal disorder true Inferred relationship Some
Self-limited neonatal epilepsy (disorder) Finding site Cerebrum false Inferred relationship Some 1
Self-limited neonatal epilepsy (disorder) Occurrence Neonatal true Inferred relationship Some 2
Self-limited neonatal epilepsy (disorder) Finding site Brain structure true Inferred relationship Some 2
Self-limited neonatal epilepsy (disorder) Is a Self-limited focal epilepsy true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Self-limited familial neonatal epilepsy Is a True Self-limited neonatal epilepsy (disorder) Inferred relationship Some
Benign non-familial neonatal convulsions Is a True Self-limited neonatal epilepsy (disorder) Inferred relationship Some
Infantile convulsion and choreoathetosis syndrome (disorder) Is a False Self-limited neonatal epilepsy (disorder) Inferred relationship Some

Reference Sets

Description inactivation indicator reference set

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