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716278005: Epilepsy with eyelid myoclonia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3305371019 Jeavons syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5173082010 Epilepsy with eyelid myoclonia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5173083017 Epilepsy with eyelid myoclonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5173091014 EEM - epilepsy with eyelid myoclonia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5232445013 A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalized tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalized spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, with a normal background. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5232446014 A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalised tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalised spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, with a normal background. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3305370018 Jeavons syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3305371019 Jeavons syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5173082010 Epilepsy with eyelid myoclonia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5173083017 Epilepsy with eyelid myoclonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5173091014 EEM - epilepsy with eyelid myoclonia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3305372014 Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures. Onset occurs in childhood, with a peak at 6-8 years of age. Eyelid myoclonia is the principle clinical feature and may or may not be associated with brief (less than 6) absences. The etiology is unknown but Jeavons syndrome appears to be genetically determined. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3305373016 Jeavons syndrome is an idiopathic generalised form of reflex epilepsy characterised by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalised tonic-clonic seizures. Onset occurs in childhood, with a peak at 6-8 years of age. Eyelid myoclonia is the principle clinical feature and may or may not be associated with brief (less than 6) absences. The aetiology is unknown but Jeavons syndrome appears to be genetically determined. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5232445013 A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalized tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalized spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, with a normal background. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5232446014 A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalised tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalised spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, with a normal background. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3389561001000117 Jeavons-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
889921000172111 EMEA - eyelid myoclonia with and without absences fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1011451000172111 syndrome de Jeavons fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
889921000172111 EMEA - eyelid myoclonia with and without absences fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1011451000172111 syndrome de Jeavons fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3389561001000117 Jeavons-Syndrom 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
Jeavons syndrome Is a Idiopathic generalized epilepsy false Inferred relationship Existential restriction modifier (core metadata concept)
Jeavons syndrome Is a Reflex epilepsy false Inferred relationship Existential restriction modifier (core metadata concept)
Jeavons syndrome 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
Jeavons syndrome Has definitional manifestation Seizure false Inferred relationship Existential restriction modifier (core metadata concept)
Jeavons syndrome Is a Genetic generalized epilepsy true Inferred relationship Existential restriction modifier (core metadata concept)
Jeavons syndrome Finding site Brain structure 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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