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698021005: Familial sleep-related hypermotor epilepsy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2968484012 ADNFLE - Autosomal dominant nocturnal frontal lobe epilepsy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2968500015 Autosomal dominant nocturnal frontal lobe epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5348009014 Familial sleep-related hypermotor epilepsy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5348010016 Autosomal dominant sleep-related hypermotor epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5348011017 Autosomal dominant sleep-related hyperkinetic epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5348012012 ADSHE - Autosomal dominant sleep-related hypermotor epilepsy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5383439014 Familial sleep-related hypermotor epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5362248016 A type of familial frontal lobe epilepsy where individuals present with clusters of motor seizures occurring from sleep, with usual onset in the first two decades of life, typically in adolescence (eleven to fourteen years). Focal motor seizures have hyperkinetic features or asymmetric tonic/dystonic features, usually with autonomic signs, vocalization, and negative emotional expression such as fear. Seizures are brief, with abrupt onset/offset, and there is often preserved awareness during the seizure. Individuals may describe a focal aware sensory or cognitive seizure before the motor features commence. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background is typically normal. The awake EEG is non epileptiform in most patients. During sleep, interictal epileptiform abnormalities are seen over the frontal areas in approximately 50% of patients. Neuroimaging is usually normal. There is a family history of sleep-related hypermotor epilepsy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5362249012 A type of familial frontal lobe epilepsy where individuals present with clusters of motor seizures occurring from sleep, with usual onset in the first two decades of life, typically in adolescence (eleven to fourteen years). Focal motor seizures have hyperkinetic features or asymmetric tonic/dystonic features, usually with autonomic signs, vocalisation, and negative emotional expression such as fear. Seizures are brief, with abrupt onset/offset, and there is often preserved awareness during the seizure. Individuals may describe a focal aware sensory or cognitive seizure before the motor features commence. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background is typically normal. The awake EEG is non epileptiform in most patients. During sleep, interictal epileptiform abnormalities are seen over the frontal areas in approximately 50% of patients. Neuroimaging is usually normal. There is a family history of sleep-related hypermotor epilepsy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
2968484012 ADNFLE - Autosomal dominant nocturnal frontal lobe epilepsy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2968500015 Autosomal dominant nocturnal frontal lobe epilepsy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2968500015 Autosomal dominant nocturnal frontal lobe epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2968504012 Autosomal dominant nocturnal frontal lobe epilepsy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2968504012 Autosomal dominant nocturnal frontal lobe epilepsy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5348009014 Familial sleep-related hypermotor epilepsy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5348010016 Autosomal dominant sleep-related hypermotor epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5348011017 Autosomal dominant sleep-related hyperkinetic epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5348012012 ADSHE - Autosomal dominant sleep-related hypermotor epilepsy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5383439014 Familial sleep-related hypermotor epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5362248016 A type of familial frontal lobe epilepsy where individuals present with clusters of motor seizures occurring from sleep, with usual onset in the first two decades of life, typically in adolescence (eleven to fourteen years). Focal motor seizures have hyperkinetic features or asymmetric tonic/dystonic features, usually with autonomic signs, vocalization, and negative emotional expression such as fear. Seizures are brief, with abrupt onset/offset, and there is often preserved awareness during the seizure. Individuals may describe a focal aware sensory or cognitive seizure before the motor features commence. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background is typically normal. The awake EEG is non epileptiform in most patients. During sleep, interictal epileptiform abnormalities are seen over the frontal areas in approximately 50% of patients. Neuroimaging is usually normal. There is a family history of sleep-related hypermotor epilepsy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5362249012 A type of familial frontal lobe epilepsy where individuals present with clusters of motor seizures occurring from sleep, with usual onset in the first two decades of life, typically in adolescence (eleven to fourteen years). Focal motor seizures have hyperkinetic features or asymmetric tonic/dystonic features, usually with autonomic signs, vocalisation, and negative emotional expression such as fear. Seizures are brief, with abrupt onset/offset, and there is often preserved awareness during the seizure. Individuals may describe a focal aware sensory or cognitive seizure before the motor features commence. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background is typically normal. The awake EEG is non epileptiform in most patients. During sleep, interictal epileptiform abnormalities are seen over the frontal areas in approximately 50% of patients. Neuroimaging is usually normal. There is a family history of sleep-related hypermotor epilepsy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3421811001000119 Nächtliche Frontallappenepilepsie, autosomal-dominante de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
893471000172119 ADNFLE - autosomal dominant nocturnal frontal lobe epilepsy fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
943751000172118 epilepsie frontale à crises nocturnes autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
893471000172119 ADNFLE - autosomal dominant nocturnal frontal lobe epilepsy fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
943751000172118 epilepsie frontale à crises nocturnes autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3421811001000119 Nächtliche Frontallappenepilepsie, autosomal-dominante 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
Familial sleep-related hypermotor epilepsy Is a Frontal lobe epilepsy (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Familial sleep-related hypermotor epilepsy Finding site Frontal lobe structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial sleep-related hypermotor epilepsy Has definitional manifestation Seizure false Inferred relationship Existential restriction modifier (core metadata concept)
Familial sleep-related hypermotor epilepsy Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial sleep-related hypermotor epilepsy Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial sleep-related hypermotor epilepsy Is a Sleep-related hypermotor epilepsy true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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