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1231737000: Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5074073010 Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5074088017 Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5400206014 A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400207017 A rare genetic epilepsy syndrome characterised by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5074073010 Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5074088017 Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5074075015 A rare genetic epilepsy syndrome with characteristics of infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400206014 A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400207017 A rare genetic epilepsy syndrome characterised by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3449481001000112 Rolando-Epilepsie - paroxysmal anstrengungsinduzierte Dyskinesie - Schreibkrampf de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3449481001000112 Rolando-Epilepsie - paroxysmal anstrengungsinduzierte Dyskinesie - Schreibkrampf 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
Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome (disorder) Is a 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. true Inferred relationship Existential restriction modifier (core metadata concept)
Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 3
Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome (disorder) Finding site Extrapyramidal system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome (disorder) 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) 2
Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome (disorder) Is a Paroxysmal dystonia true Inferred relationship Existential restriction modifier (core metadata concept)
Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome (disorder) Clinical course Paroxysmal true Inferred relationship Existential restriction modifier (core metadata concept) 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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