128613002: Seizure disorder (disorder)

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

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder

\Neurological finding\Seizure related finding\Seizure\Seizure disorder

\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Seizure disorder	Is a	Disorder of brain (disorder)	true	Inferred relationship	Some
Seizure disorder	Finding site	Brain structure	true	Inferred relationship	Some	1
Seizure disorder	Has definitional manifestation	Seizure	false	Inferred relationship	Some
Seizure disorder	Is a	Seizure	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
An epileptic seizure originating within networks limited to one hemisphere. They may be discretely localised or more widely distributed. Focal seizures may originate in subcortical structures.	Is a	False	Seizure disorder	Inferred relationship	Some
Generalized-onset seizures	Is a	False	Seizure disorder	Inferred relationship	Some
Epileptic vertigo	Is a	True	Seizure disorder	Inferred relationship	Some
Unclassified epileptic seizures	Is a	False	Seizure disorder	Inferred relationship	Some
A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Is a	True	Seizure disorder	Inferred relationship	Some
H/O: anticonvulsant therapy	Associated finding	False	Seizure disorder	Inferred relationship	Some
Situation-related seizures	Is a	True	Seizure disorder	Inferred relationship	Some
A sudden paroxysm of abnormal motor and/or non-motor phenomenon with or without electrographic correlate, or a neonatal electrographic-only seizure (without clinical correlate) that occurs during the period from birth until 44 weeks postmenstrual age.	Is a	False	Seizure disorder	Inferred relationship	Some
Seizures due to metabolic disorder (disorder)	Is a	True	Seizure disorder	Inferred relationship	Some
Family history of seizure disorder (situation)	Associated finding	False	Seizure disorder	Inferred relationship	Some	1
Family history of seizure disorder (situation)	Associated finding	True	Seizure disorder	Inferred relationship	Some	1
Family history of seizure disorder (situation)	Associated finding	False	Seizure disorder	Inferred relationship	Some	1
Seizure disorder as sequela of stroke	Is a	True	Seizure disorder	Inferred relationship	Some
A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988.	Is a	True	Seizure disorder	Inferred relationship	Some
GM3 synthase deficiency is a rare congenital disorder of glycosylation due to impaired synthesis of complex ganglioside species initially characterized by irritability, poor feeding, failure to thrive and early-onset refractory epilepsy, followed by postnatal growth impairment, severe developmental delay or developmental regression, profound intellectual disability, deafness and abnormalities of skin pigmentation (mostly freckle-like hyperpigmented and depigmented macules). Visual impairment due to cortical atrophy (visible on magnetic resonance imaging), choreoathetosis and hypotonic tetraparesis usually appear gradually. Dysmorphic facial features may be associated.	Is a	True	Seizure disorder	Inferred relationship	Some
A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus.	Is a	True	Seizure disorder	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994.	Is a	True	Seizure disorder	Inferred relationship	Some
Sequela following seizure (disorder)	After	True	Seizure disorder	Inferred relationship	Some	1
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989.	Is a	True	Seizure disorder	Inferred relationship	Some
A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.	Is a	True	Seizure disorder	Inferred relationship	Some
Seizure co-occurrent and due to drug withdrawal	Is a	False	Seizure disorder	Inferred relationship	Some
Syncope followed by tonic or tonic-clonic movements due to cortical depression and not as a result of a cortical electrical seizure	Is a	False	Seizure disorder	Inferred relationship	Some
Eclampsia	Is a	True	Seizure disorder	Inferred relationship	Some
Familial febrile convulsions	Is a	True	Seizure disorder	Inferred relationship	Some
Pitt-Hopkins syndrome	Is a	True	Seizure disorder	Inferred relationship	Some
A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities.	Is a	True	Seizure disorder	Inferred relationship	Some
5q31.3 microdeletion syndrome (disorder)	Is a	True	Seizure disorder	Inferred relationship	Some
A rare early childhood onset progressive encephalopathy characterized by extreme cerebellar atrophy, infantile onset hypotonia, infantile spasms with hypsarrhythmia, profound intellectual disability, and optic atrophy. PEHO stands for the main features of the syndrome: Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy.	Is a	True	Seizure disorder	Inferred relationship	Some
PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.	Is a	True	Seizure disorder	Inferred relationship	Some
A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.	Is a	True	Seizure disorder	Inferred relationship	Some
A rare genetic neurodevelopmental disorder characterized by early-onset drug-resistant seizures and severe neurodevelopmental impairment with major motor development delay.	Is a	True	Seizure disorder	Inferred relationship	Some
Cutis laxa mit schweren Lungen-, Magen-, Darm- und Harnwegs-Anomalien	Is a	False	Seizure disorder	Inferred relationship	Some
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (e.g. patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (i.e. hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal abnormalities (including gastroesophageal reflux, anal stenosis, imperforate anus, ano-vestibular fistula), as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large, open mouth with thin lips, high-arched palate, and micro/retrognathia.	Is a	True	Seizure disorder	Inferred relationship	Some
Refractory infantile spasms (disorder)	Is a	True	Seizure disorder	Inferred relationship	Some
A rare, genetic, neurologic disease characterized by primary hyperaldosteronism presenting with early-onset, severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability).	Is a	True	Seizure disorder	Inferred relationship	Some
Dissociative convulsions	Is a	True	Seizure disorder	Inferred relationship	Some
A rare genetic neurological disorder characterized by infantile to childhood onset of global developmental delay, hypotonia, seizures, growth delay, and intellectual disability. Additional variable features include strabismus, cortical visual impairment, nystagmus, movement disorder (such as dystonia, ataxia, or chorea), or mild dysmorphic features, among others.	Is a	True	Seizure disorder	Inferred relationship	Some
Myoclonic seizure	Is a	False	Seizure disorder	Inferred relationship	Some
Atonic seizure	Is a	False	Seizure disorder	Inferred relationship	Some
First generalized onset seizure	Is a	False	Seizure disorder	Inferred relationship	Some
A continuous or cluster of generalized typical absence epileptic seizures of more than 10 minutes duration from which the individual does not return to normal between seizures.	Is a	False	Seizure disorder	Inferred relationship	Some
A continuous or cluster of generalised atypical absence epileptic seizures of more than 10 minutes duration from which the individual does not return to baseline between seizures.	Is a	False	Seizure disorder	Inferred relationship	Some
Intractable absence seizures	Is a	False	Seizure disorder	Inferred relationship	Some
A rare genetic neurological disorder characterized by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.	Is a	True	Seizure disorder	Inferred relationship	Some
Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.	Is a	True	Seizure disorder	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others.	Is a	True	Seizure disorder	Inferred relationship	Some
A rare, genetic, neurometabolic disease characterized by early onset encephalopathy with progressive microcephaly, severe global development delay, seizures, hypotonia, feeding difficulties, variable cardiac abnormalities, and cataracts. Brain MRI shows distinct pattern with high T2 signal and restricted diffusion in the posterior limb of the internal capsule in combination with delayed myelination and progressive cerebral atrophy. The disease is typically fatal.	Is a	True	Seizure disorder	Inferred relationship	Some
A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated.	Is a	True	Seizure disorder	Inferred relationship	Some
Aicardi's syndrome	Is a	True	Seizure disorder	Inferred relationship	Some
Seizure co-occurrent and due to substance withdrawal	Is a	True	Seizure disorder	Inferred relationship	Some
A rare genetic disorder of magnesium transport characterized by infantile onset of generalized seizures and severe hypomagnesemia due to massive renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant global developmental delay and intellectual disability. Brain MRI may show reduced cerebral volume.	Is a	True	Seizure disorder	Inferred relationship	Some
convulsions néonatales familiales	Is a	False	Seizure disorder	Inferred relationship	Some
Seizures complicating intracranial hemorrhage in the newborn (disorder)	Is a	True	Seizure disorder	Inferred relationship	Some
New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.	Is a	True	Seizure disorder	Inferred relationship	Some
A rare genetic neurological disorder with characteristics of childhood onset of severe global neurodevelopmental regression with eventual loss of independent walking and loss of language and fine and gross motor skills, and development of severe dysphagia requiring tube feeding, seizures, cerebellar syndrome, dystonia, and other neurologic manifestations. Brain imaging shows progressive cerebral and/or cerebellar atrophy in most cases. A less severe phenotype associated with missense mutations shows no regression or movement abnormalities, ambulation is preserved, and brain imaging is normal.	Is a	True	Seizure disorder	Inferred relationship	Some
A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.	Is a	True	Seizure disorder	Inferred relationship	Some
A rare renal tubular disease characterised by hypomagnesaemia due to renal magnesium wasting, recurrent generalised seizures, mild to moderate intellectual disability, speech delay and obesity due to CNNM2 mutations. Most patients also manifest motor skill defects and hyperkinesia. Majority of the affected individuals do not exhibit brain anomalies.	Is a	True	Seizure disorder	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
206998011	Seizure disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
732627018	Seizure disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
927081000195111	disturbo convulsivo	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3398525013	trouble épileptique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
12651000077110	trouble convulsif	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module