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267581004: Progressive myoclonic epilepsy (disorder)

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
399395015 Progressive myoclonic epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
660215010 Progressive myoclonic epilepsy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
102931000172111 épilepsie myoclonique progressive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3385321001000115 Myoklonusepilepsie, progressive de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

14 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Progressive myoclonic epilepsy Is a épilepsie généralisée cryptogénique false Inferred relationship Some
Progressive myoclonic epilepsy 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 Some 1
Progressive myoclonic epilepsy Has definitional manifestation Seizure false Inferred relationship Some
Progressive myoclonic epilepsy Is a Myoclonic seizure false Inferred relationship Some
Progressive myoclonic epilepsy Is a épilepsie tonicoclonique false Inferred relationship Some
Progressive myoclonic epilepsy Is a A type of epilepsy with only generalised onset epileptic seizures. false Inferred relationship Some
Progressive myoclonic epilepsy Interprets mouvement false Inferred relationship Some 2
Progressive myoclonic epilepsy Finding site Brain structure true Inferred relationship Some 1
Progressive myoclonic epilepsy Is a A disease of the brain characterized by an enduring predisposition to generate epileptic seizures. true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Unverricht-Lundborg syndrome Is a True Progressive myoclonic epilepsy Inferred relationship Some
Lafora disease Is a True Progressive myoclonic epilepsy Inferred relationship Some
Progressive myoclonus epilepsy with ataxia (disorder) Is a True Progressive myoclonic epilepsy Inferred relationship Some
Spinal muscular atrophy with progressive myoclonic epilepsy (disorder) Is a True Progressive myoclonic epilepsy Inferred relationship Some
A rare genetic progressive myoclonic epilepsy characterized by childhood onset of progressive dysarthria, myoclonus, ataxia, seizures, and cognitive decline. The disease takes a protracted course with patients surviving into adulthood, developing signs and symptoms like psychosis with outbursts of prolonged agitation and screaming, spasticity and hyperreflexia, confusion, mutism, and incontinence. There are no visual disturbances. Muscle biopsy shows numerous periodic acid-Schiff-positive inclusions, so-called Lafora bodies. Is a True Progressive myoclonic epilepsy Inferred relationship Some
Progressive myoclonic epilepsy with dystonia is a rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli. Is a True Progressive myoclonic epilepsy Inferred relationship Some
A rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms. Is a True Progressive myoclonic epilepsy Inferred relationship Some
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. Is a True Progressive myoclonic epilepsy Inferred relationship Some
A rare, genetic, neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy. Is a True Progressive myoclonic epilepsy Inferred relationship Some
A rare, genetic, neuronal ceroid lipofuscinosis disorder characterized by infantile- to early childhood-onset of progressive myoclonic seizures (occasionally accompanied by generalized tonic-clonic seizures) and severe, progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity. Is a True Progressive myoclonic epilepsy Inferred relationship Some
A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course. Is a True Progressive myoclonic epilepsy Inferred relationship Some
A rare, genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related), and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated. Is a True Progressive myoclonic epilepsy Inferred relationship Some
A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated. Is a True Progressive myoclonic epilepsy Inferred relationship Some
A rare, genetic, neurological disorder characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as developmental delay, may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, ventriculomegaly, interhemispheric cysts, and simplified gyration (frontally). Is a True Progressive myoclonic epilepsy Inferred relationship Some

This concept is not in any reference sets

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