765093009: Rolandic epilepsy, speech dyspraxia syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Focal epilepsy (disorder)\Self-limited focal epilepsy (disorder)\A common type of self-limited focal epilepsy syndrome, which begins typically between four and ten years (peak is seven years; range three to twelve years). Seizures are focal, infrequent (most children have fewer than ten in lifetime), brief (typically less than two to three minutes) and occur mostly in sleep (eighty to ninety percent of children). Individuals may have frequent seizures over a few days or weeks and then several months before subsequent seizure. Focal seizures with characteristic frontoparietal opercular features and/or nocturnal bilateral tonic-clonic seizures are mandatory for diagnosis. Characteristic semiology includes somatosensory symptoms (unilateral numbness or paresthesia of the tongue, lips, gums and inner cheek), orofacial motor signs (unilateral tonic or clonic contractions), speech arrest (dysarthria or anarthria) with preserved understanding, and sialorrhea. Seizures may evolve rapidly to tonic-clonic activity of the ipsilateral upper limb, to an ipsilateral hemiclonic seizure, or to a focal to bilateral tonic-clonic seizure. Todd paresis may occur postictally. Seizures occurring during sleep are seen within one hour of falling asleep or one to two hours prior to awakening. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background activity is normal. EEG must show centrotemporal biphasic epileptiform discharges which are characteristically high-amplitude complexes (less than 200 microvolts, peak to trough) that activate in drowsiness and sleep. MRI is normal or has nonspecific findings.\Rolandic epilepsy, speech dyspraxia syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Focal epilepsy (disorder)\Self-limited focal epilepsy (disorder)\A common type of self-limited focal epilepsy syndrome, which begins typically between four and ten years (peak is seven years; range three to twelve years). Seizures are focal, infrequent (most children have fewer than ten in lifetime), brief (typically less than two to three minutes) and occur mostly in sleep (eighty to ninety percent of children). Individuals may have frequent seizures over a few days or weeks and then several months before subsequent seizure. Focal seizures with characteristic frontoparietal opercular features and/or nocturnal bilateral tonic-clonic seizures are mandatory for diagnosis. Characteristic semiology includes somatosensory symptoms (unilateral numbness or paresthesia of the tongue, lips, gums and inner cheek), orofacial motor signs (unilateral tonic or clonic contractions), speech arrest (dysarthria or anarthria) with preserved understanding, and sialorrhea. Seizures may evolve rapidly to tonic-clonic activity of the ipsilateral upper limb, to an ipsilateral hemiclonic seizure, or to a focal to bilateral tonic-clonic seizure. Todd paresis may occur postictally. Seizures occurring during sleep are seen within one hour of falling asleep or one to two hours prior to awakening. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background activity is normal. EEG must show centrotemporal biphasic epileptiform discharges which are characteristically high-amplitude complexes (less than 200 microvolts, peak to trough) that activate in drowsiness and sleep. MRI is normal or has nonspecific findings.\Rolandic epilepsy, speech dyspraxia syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Focal epilepsy (disorder)\Self-limited focal epilepsy (disorder)\A common type of self-limited focal epilepsy syndrome, which begins typically between four and ten years (peak is seven years; range three to twelve years). Seizures are focal, infrequent (most children have fewer than ten in lifetime), brief (typically less than two to three minutes) and occur mostly in sleep (eighty to ninety percent of children). Individuals may have frequent seizures over a few days or weeks and then several months before subsequent seizure. Focal seizures with characteristic frontoparietal opercular features and/or nocturnal bilateral tonic-clonic seizures are mandatory for diagnosis. Characteristic semiology includes somatosensory symptoms (unilateral numbness or paresthesia of the tongue, lips, gums and inner cheek), orofacial motor signs (unilateral tonic or clonic contractions), speech arrest (dysarthria or anarthria) with preserved understanding, and sialorrhea. Seizures may evolve rapidly to tonic-clonic activity of the ipsilateral upper limb, to an ipsilateral hemiclonic seizure, or to a focal to bilateral tonic-clonic seizure. Todd paresis may occur postictally. Seizures occurring during sleep are seen within one hour of falling asleep or one to two hours prior to awakening. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background activity is normal. EEG must show centrotemporal biphasic epileptiform discharges which are characteristically high-amplitude complexes (less than 200 microvolts, peak to trough) that activate in drowsiness and sleep. MRI is normal or has nonspecific findings.\Rolandic epilepsy, speech dyspraxia syndrome
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Focal epilepsy (disorder)\Self-limited focal epilepsy (disorder)\A common type of self-limited focal epilepsy syndrome, which begins typically between four and ten years (peak is seven years; range three to twelve years). Seizures are focal, infrequent (most children have fewer than ten in lifetime), brief (typically less than two to three minutes) and occur mostly in sleep (eighty to ninety percent of children). Individuals may have frequent seizures over a few days or weeks and then several months before subsequent seizure. Focal seizures with characteristic frontoparietal opercular features and/or nocturnal bilateral tonic-clonic seizures are mandatory for diagnosis. Characteristic semiology includes somatosensory symptoms (unilateral numbness or paresthesia of the tongue, lips, gums and inner cheek), orofacial motor signs (unilateral tonic or clonic contractions), speech arrest (dysarthria or anarthria) with preserved understanding, and sialorrhea. Seizures may evolve rapidly to tonic-clonic activity of the ipsilateral upper limb, to an ipsilateral hemiclonic seizure, or to a focal to bilateral tonic-clonic seizure. Todd paresis may occur postictally. Seizures occurring during sleep are seen within one hour of falling asleep or one to two hours prior to awakening. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background activity is normal. EEG must show centrotemporal biphasic epileptiform discharges which are characteristically high-amplitude complexes (less than 200 microvolts, peak to trough) that activate in drowsiness and sleep. MRI is normal or has nonspecific findings.\Rolandic epilepsy, speech dyspraxia syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Focal epilepsy (disorder)\Self-limited focal epilepsy (disorder)\A common type of self-limited focal epilepsy syndrome, which begins typically between four and ten years (peak is seven years; range three to twelve years). Seizures are focal, infrequent (most children have fewer than ten in lifetime), brief (typically less than two to three minutes) and occur mostly in sleep (eighty to ninety percent of children). Individuals may have frequent seizures over a few days or weeks and then several months before subsequent seizure. Focal seizures with characteristic frontoparietal opercular features and/or nocturnal bilateral tonic-clonic seizures are mandatory for diagnosis. Characteristic semiology includes somatosensory symptoms (unilateral numbness or paresthesia of the tongue, lips, gums and inner cheek), orofacial motor signs (unilateral tonic or clonic contractions), speech arrest (dysarthria or anarthria) with preserved understanding, and sialorrhea. Seizures may evolve rapidly to tonic-clonic activity of the ipsilateral upper limb, to an ipsilateral hemiclonic seizure, or to a focal to bilateral tonic-clonic seizure. Todd paresis may occur postictally. Seizures occurring during sleep are seen within one hour of falling asleep or one to two hours prior to awakening. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background activity is normal. EEG must show centrotemporal biphasic epileptiform discharges which are characteristically high-amplitude complexes (less than 200 microvolts, peak to trough) that activate in drowsiness and sleep. MRI is normal or has nonspecific findings.\Rolandic epilepsy, speech dyspraxia syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Focal epilepsy (disorder)\Self-limited focal epilepsy (disorder)\A common type of self-limited focal epilepsy syndrome, which begins typically between four and ten years (peak is seven years; range three to twelve years). Seizures are focal, infrequent (most children have fewer than ten in lifetime), brief (typically less than two to three minutes) and occur mostly in sleep (eighty to ninety percent of children). Individuals may have frequent seizures over a few days or weeks and then several months before subsequent seizure. Focal seizures with characteristic frontoparietal opercular features and/or nocturnal bilateral tonic-clonic seizures are mandatory for diagnosis. Characteristic semiology includes somatosensory symptoms (unilateral numbness or paresthesia of the tongue, lips, gums and inner cheek), orofacial motor signs (unilateral tonic or clonic contractions), speech arrest (dysarthria or anarthria) with preserved understanding, and sialorrhea. Seizures may evolve rapidly to tonic-clonic activity of the ipsilateral upper limb, to an ipsilateral hemiclonic seizure, or to a focal to bilateral tonic-clonic seizure. Todd paresis may occur postictally. Seizures occurring during sleep are seen within one hour of falling asleep or one to two hours prior to awakening. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background activity is normal. EEG must show centrotemporal biphasic epileptiform discharges which are characteristically high-amplitude complexes (less than 200 microvolts, peak to trough) that activate in drowsiness and sleep. MRI is normal or has nonspecific findings.\Rolandic epilepsy, speech dyspraxia syndrome
• \Functional finding\Motor function\Rolandic epilepsy, speech dyspraxia syndrome
• \Functional finding\Communication disorder\Speech and language disorder\Speech and language dyspraxias\Rolandic epilepsy, speech dyspraxia syndrome
• \Functional finding\Developmental disorder of motor function\Speech and language dyspraxias\Rolandic epilepsy, speech dyspraxia syndrome
• \Speech finding\Speech and language finding\Communication, speech and language finding\Communication disorder\Speech and language disorder\Speech and language dyspraxias\Rolandic epilepsy, speech dyspraxia syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Focal epilepsy (disorder)\Self-limited focal epilepsy (disorder)\A common type of self-limited focal epilepsy syndrome, which begins typically between four and ten years (peak is seven years; range three to twelve years). Seizures are focal, infrequent (most children have fewer than ten in lifetime), brief (typically less than two to three minutes) and occur mostly in sleep (eighty to ninety percent of children). Individuals may have frequent seizures over a few days or weeks and then several months before subsequent seizure. Focal seizures with characteristic frontoparietal opercular features and/or nocturnal bilateral tonic-clonic seizures are mandatory for diagnosis. Characteristic semiology includes somatosensory symptoms (unilateral numbness or paresthesia of the tongue, lips, gums and inner cheek), orofacial motor signs (unilateral tonic or clonic contractions), speech arrest (dysarthria or anarthria) with preserved understanding, and sialorrhea. Seizures may evolve rapidly to tonic-clonic activity of the ipsilateral upper limb, to an ipsilateral hemiclonic seizure, or to a focal to bilateral tonic-clonic seizure. Todd paresis may occur postictally. Seizures occurring during sleep are seen within one hour of falling asleep or one to two hours prior to awakening. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background activity is normal. EEG must show centrotemporal biphasic epileptiform discharges which are characteristically high-amplitude complexes (less than 200 microvolts, peak to trough) that activate in drowsiness and sleep. MRI is normal or has nonspecific findings.\Rolandic epilepsy, speech dyspraxia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Rolandic epilepsy, speech dyspraxia syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Rolandic epilepsy, speech dyspraxia syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Rolandic epilepsy, speech dyspraxia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Rolandic epilepsy, speech dyspraxia syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Rolandic epilepsy, speech dyspraxia syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Focal epilepsy (disorder)\Self-limited focal epilepsy (disorder)\A common type of self-limited focal epilepsy syndrome, which begins typically between four and ten years (peak is seven years; range three to twelve years). Seizures are focal, infrequent (most children have fewer than ten in lifetime), brief (typically less than two to three minutes) and occur mostly in sleep (eighty to ninety percent of children). Individuals may have frequent seizures over a few days or weeks and then several months before subsequent seizure. Focal seizures with characteristic frontoparietal opercular features and/or nocturnal bilateral tonic-clonic seizures are mandatory for diagnosis. Characteristic semiology includes somatosensory symptoms (unilateral numbness or paresthesia of the tongue, lips, gums and inner cheek), orofacial motor signs (unilateral tonic or clonic contractions), speech arrest (dysarthria or anarthria) with preserved understanding, and sialorrhea. Seizures may evolve rapidly to tonic-clonic activity of the ipsilateral upper limb, to an ipsilateral hemiclonic seizure, or to a focal to bilateral tonic-clonic seizure. Todd paresis may occur postictally. Seizures occurring during sleep are seen within one hour of falling asleep or one to two hours prior to awakening. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background activity is normal. EEG must show centrotemporal biphasic epileptiform discharges which are characteristically high-amplitude complexes (less than 200 microvolts, peak to trough) that activate in drowsiness and sleep. MRI is normal or has nonspecific findings.\Rolandic epilepsy, speech dyspraxia syndrome
• \Disease\Communication disorder\Speech and language disorder\Speech and language dyspraxias\Rolandic epilepsy, speech dyspraxia syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Focal epilepsy (disorder)\Self-limited focal epilepsy (disorder)\A common type of self-limited focal epilepsy syndrome, which begins typically between four and ten years (peak is seven years; range three to twelve years). Seizures are focal, infrequent (most children have fewer than ten in lifetime), brief (typically less than two to three minutes) and occur mostly in sleep (eighty to ninety percent of children). Individuals may have frequent seizures over a few days or weeks and then several months before subsequent seizure. Focal seizures with characteristic frontoparietal opercular features and/or nocturnal bilateral tonic-clonic seizures are mandatory for diagnosis. Characteristic semiology includes somatosensory symptoms (unilateral numbness or paresthesia of the tongue, lips, gums and inner cheek), orofacial motor signs (unilateral tonic or clonic contractions), speech arrest (dysarthria or anarthria) with preserved understanding, and sialorrhea. Seizures may evolve rapidly to tonic-clonic activity of the ipsilateral upper limb, to an ipsilateral hemiclonic seizure, or to a focal to bilateral tonic-clonic seizure. Todd paresis may occur postictally. Seizures occurring during sleep are seen within one hour of falling asleep or one to two hours prior to awakening. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background activity is normal. EEG must show centrotemporal biphasic epileptiform discharges which are characteristically high-amplitude complexes (less than 200 microvolts, peak to trough) that activate in drowsiness and sleep. MRI is normal or has nonspecific findings.\Rolandic epilepsy, speech dyspraxia syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Developmental disorder of motor function\Speech and language dyspraxias\Rolandic epilepsy, speech dyspraxia syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Rolandic epilepsy, speech dyspraxia syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3656383010	Rolandic epilepsy, speech dyspraxia syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3656385015	Rolandic epilepsy, speech dyspraxia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404472017	Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404473010	Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterised by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalised childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3656383010	Rolandic epilepsy, speech dyspraxia syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3656385015	Rolandic epilepsy, speech dyspraxia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3656384016	Rare genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3656386019	Rare genetic epilepsy characterised by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalised childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404472017	Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404473010	Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterised by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalised childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3417361001000114	Rolando-Epilepsie-Sprachdyspraxie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
871851000172115	syndrome d'épilepsie rolandique-dyspraxie de la parole	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
871851000172115	syndrome d'épilepsie rolandique-dyspraxie de la parole	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3417361001000114	Rolando-Epilepsie-Sprachdyspraxie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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