267581004: Progressive myoclonic epilepsy (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Progressive myoclonic epilepsy
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Progressive myoclonic epilepsy
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Progressive myoclonic epilepsy

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Progressive myoclonic epilepsy
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Progressive myoclonic epilepsy
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Progressive myoclonic epilepsy

\Neurological finding (finding)\Seizure related finding\Seizure\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Progressive myoclonic epilepsy

\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Progressive myoclonic epilepsy
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\Progressive myoclonic epilepsy

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

1870861000005111 progredierende myoklon epilepsi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Progressive myoclonic epilepsy	Is a	kryptogen generaliseret epilepsi	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	Myoklonusanfald	false	Inferred relationship	Some
Progressive myoclonic epilepsy	Is a	Tonisk-klonisk epilepsi	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	Movement	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
A rare hereditary spastic ataxia disorder with 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. Caused by homozygous mutation in the AFG3L2 gene on chromosome 18p11.	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. There is evidence the disease may be caused by homozygous mutation in the CERS1 gene on chromosome 19p12.	Is a	True	Progressive myoclonic epilepsy	Inferred relationship	Some
A rare genetic neuronal ceroid lipofuscinosis disorder with characteristics of infantile to early childhood onset of progressive myoclonic seizures (occasionally accompanied by generalised 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. Caused by homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.	Is a	True	Progressive myoclonic epilepsy	Inferred relationship	Some
A rare genetic neurological disorder characterised by early-onset progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalised 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. There is evidence the disease is caused by homozygous mutation in the GOSR2 gene on chromosome 17q21.	Is a	True	Progressive myoclonic epilepsy	Inferred relationship	Some
A rare genetic neurological disorder characterised by early-onset progressive ataxia associated with myoclonic seizures, generalised 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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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
1870861000005111	progredierende myoklon epilepsi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)