84757009: 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.
\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.
\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.

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.
\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.
\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.

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

\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.
\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.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Is a	Seizure disorder	true	Inferred relationship	Some
A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	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
A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Has definitional manifestation	Seizure	false	Inferred relationship	Some
A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Finding site	Brain structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Epilepsy undetermined whether focal or generalized	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
épilepsie tonicoclonique	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
A type of epilepsy with only generalised onset epileptic seizures.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
épilepsie viscérale	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Visual epilepsy	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
épilepsie centrencéphalique	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
A continuous or cluster of generalised absence epileptic seizures of more than 10 minutes duration from which the individual does not return to normal between seizures.	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Cursive seizure	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Reflex epilepsy	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
épilepsie psychosensorielle	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
épilepsie somato-sensorielle	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Unilateral epilepsy	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Other forms of epilepsy	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
[X]Other generalized epilepsy and epileptic syndromes	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
[X]Other epilepsy	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
[X]Other status epilepticus	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
[X]Status epilepticus, unspecified	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Epilepsy NOS	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Fit (in known epileptic) NOS	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
FH: Epilepsy	Associated finding	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some	1
H/O: epilepsy	Associated finding	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some	1
Drug-induced epilepsy	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
An abnormally prolonged continuous epileptic seizure or cluster of epileptic seizures in which the individual does not return to normal between seizures. The definition of abnormal duration varies based on seizure type.	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Alcohol-induced epilepsy	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Post-traumatic epilepsy	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
A type of self-limited focal epilepsy with onset typically between day two and seven of life. Seizures are focal tonic at onset, affecting the head, face, and limbs. Focal clonic or tonic seizures may evolve to bilateral tonic or clonic seizures. Onset may alternate between hemispheres. Autonomic features (apnea and cyanosis) are present in one third of seizures and may be the predominant manifestation. Seizure semiology may progress in a sequential pattern with tonic, clonic, myoclonic and autonomic features following each other without a single predominant feature. Clusters of seizures may occur over hours or days with the neonate behaving normally between events. Developmental progress is usually normal. The electroencephalogram (EEG) background is normal or has minor nonspecific abnormalities. Focal interictal epileptiform abnormalities can be seen in the central, centrotemporal or frontotemporal regions. MRI is normal or has nonspecific findings. Pathogenic variants are seen in KCNQ2, KCNQ3 and SCN2A.	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
démence épileptique	Associated with	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Epilepsy suspected	Associated finding	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some	1
Epilepsy confirmed	Associated finding	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some	1
épilepsie, pas réfractaire	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Epilepsy suspected	Associated finding	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some	1
H/O: epilepsy	Associated finding	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some	1
Epilepsy confirmed	Associated finding	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some	1
FH: Epilepsy	Associated finding	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some	1
Unilateral epilepsy	Associated finding	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some	1
FH: Epilepsy	Associated finding	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some	1
épilepsie réfractaire	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Unilateral epilepsy	Associated finding	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some	1
Atonic epilepsy	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Atypical absence epilepsy	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Post-cerebrovascular accident epilepsy	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Epilepsy in mother complicating childbirth (disorder)	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Epilepsy in mother complicating pregnancy	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Epileptic dementia with behavioral disturbance	Associated with	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
X-linked epilepsy-learning disabilities-behaviour disorders syndrome is characterised by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Aphasia co-occurrent with epilepsy	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in two chromosome regions, one localized to chromosome 1 and the other to chromosome 14.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
A rare disorder characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The etiology is unknown.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Epilepsy co-occurrent and due to dementia	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Pyridoxal 5-phosphate dependent epilepsy (disorder)	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Epilepsy due to perinatal anoxic-ischemic brain injury (disorder)	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Epilepsy due to cerebrovascular accident (disorder)	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Epilepsy due to intracranial neoplasm	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Epilepsy co-occurrent and due to degenerative brain disorder (disorder)	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Epilepsy co-occurrent and due to mesial temporal sclerosis (disorder)	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Epilepsy due to immune disorder (disorder)	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Epilepsy co-occurrent and due to demyelinating disorder (disorder)	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Epilepsy due to infectious disease of central nervous system (disorder)	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Epileptic dementia with behavioral disturbance	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Epilepsy of infancy with migrating focal seizures	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
A form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Pyridoxine-dependent epilepsy (disorder)	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Disease with characteristics of recurrent seizures, encephalopathy and intellectual disability with onset of symptoms typically beginning in infancy. Seizures may be refractory and intellectual disability may be mild to severe. Sudden unexpected death in epilepsy may occur in rare cases. The disease is caused by mutations in the SCN8A gene, which provides instructions for making the alpha subunit of Nav1.6. Follows an autosomal dominant pattern of inheritance however most cases of this condition result from de novo mutation.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
A rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Acquired epileptic aphasia	Due to	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some	2
Acquired epileptic aphasia	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterised by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralising signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
déficience intellectuelle associée à SYNGAP1 (synaptic Ras GTPase activating protein 1)	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
A rare, X-linked, syndromic intellectual disability disease characterized by neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated.	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
A rare, genetic, epilepsy syndrome characterized by congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Epilepsy due to and following traumatic brain injury	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Epilepsy due to scarring of brain (disorder)	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
épilepsie non photosensible auto-induite	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Epilepsy due to parasitic disease	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Epilepsy due to bacterial endocarditis	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
A rare, severe early-onset neurodegenerative encephalopathy characterized mainly by developmental delay (DD) / developmental regression (DR), epilepsy, cortical atrophy, secondary hypomyelination and thin corpus callosum. Additional features include secondary microcephaly, hypotonia, spasticity, optic atrophy and skeletal anomalies.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
A rare pervasive developmental disorder characterized by microcephaly, profound developmental delay, intellectual disability, bilateral cataracts, severe epilepsy including infantile spasms, hypotonia, irritability, feeding difficulties leading to failure to thrive, and stereotypic hand movements. The disease manifests in infancy. Brain imaging reveals delay in myelination and cerebral atrophy.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay, intellectual disability, early-onset seizures, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, large ears, thin upper lip, and high arched palate). Other reported features are microcephaly, hypotonia, growth retardation, congenital heart defects, and malformations of the fingers and toes, as well as additional neurologic manifestations (such as ataxia or spastic quadriplegia). Brain imaging may show hypoplastic corpus callosum, white matter abnormalities, or cortical atrophy.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures. So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.	Is a	False	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
A rare disorder of plasmalogen biosynthesis characterized by syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation and short stature, and spastic quadriparesis. Dysmorphic facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism, and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities, and Dandy-Walker malformation have been described on brain imaging.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Epilepsy due to congenital anomaly of brain (disorder)	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
A type of epilepsy with both generalised and focal onset epileptic seizures.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
A rare, fatal, inborn error of metabolism disorder characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
A rare genetic neurological disorder characterized by a pregnancy complicated by polyhydramnios, severe intractable epilepsy presenting in infancy, severe hypotonia, decreased muscle mass, global developmental delay, craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus, and nephrocalcinosis, among others.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Post infectious grand mal epilepsy (disorder)	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that occur in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some
A rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability.	Is a	True	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
5180629012	A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5180630019	A disease of the brain characterised by an enduring predisposition to generate epileptic seizures.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
178739011	Epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
826667014	Epilepsy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
949731000195115	epilessia	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5831000077111	épilepsie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2549181001000118	Epilepsie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module