12738006: Brain structure (body structure)

SNOMED CT Concept\Body structure (body structure)\Anatomical or acquired body structure (body structure)\Anatomical structure\...

\Anatomical structure which has as its parts a heterogeneous collection of organs, organ parts, cells, cell parts or body part subdivisions that are adjacent to, or continuous with one another; does not constitute a cell part, cell, tissue, organ, or body part subdivision.\Structure of anatomical compartment (body structure)\Intracranial structure (body structure)\Brain structure

\An anatomical structure that consists of the maximal set of organ parts so connected to one another that together they constitute a self-contained unit of macroscopic anatomy, distinct both morphologically and functionally from other such units. Together with other organs, an organ constitutes an organ system or a body part. An organ is divisible into organ parts but not organs (examples: femur, biceps, liver, heart, aorta, sciatic nerve, ovary).\Brain and spinal cord structure (body structure)\Brain structure

\Body region structure\Body part structure\Upper body structure\Upper body part structure\Structure of head and/or neck (body structure)\Head structure\Head part\Intracranial structure (body structure)\Brain structure

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
Brain structure	Is a	Intracranial structure (body structure)	true	Inferred relationship	Some
Brain structure	partie de	Entire cranial cavity	false	Additional relationship	Some
Brain structure	partie de	Entire central nervous system	false	Additional relationship	Some
Brain structure	Is a	Brain and spinal cord structure (body structure)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A type of epilepsy with both generalised and focal onset epileptic seizures.	Finding site	True	Brain structure	Inferred relationship	Some	1
A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.	Finding site	True	Brain structure	Inferred relationship	Some	1
A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.	Finding site	True	Brain structure	Inferred relationship	Some	1
Epilepsy due to infectious meningitis (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	2
Epilepsy due to neonatal central nervous system infection	Finding site	True	Brain structure	Inferred relationship	Some	1
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.	Finding site	True	Brain structure	Inferred relationship	Some	3
Epilepsy due to infectious disease of central nervous system (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Epilepsy co-occurrent and due to dementia	Finding site	True	Brain structure	Inferred relationship	Some	2
Epilepsy of infancy with migrating focal seizures	Finding site	True	Brain structure	Inferred relationship	Some	2
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.	Finding site	True	Brain structure	Inferred relationship	Some	2
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).	Finding site	True	Brain structure	Inferred relationship	Some	1
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.	Finding site	True	Brain structure	Inferred relationship	Some	2
Pyridoxine-dependent epilepsy (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	3
Epileptic dementia with behavioral disturbance	Finding site	True	Brain structure	Inferred relationship	Some	2
Post-cerebrovascular accident epilepsy	Finding site	True	Brain structure	Inferred relationship	Some	2
Maternal epilepsy due to perinatal stroke	Finding site	True	Brain structure	Inferred relationship	Some	2
Fetal epilepsy due to perinatal stroke	Finding site	True	Brain structure	Inferred relationship	Some	2
Neonatal epilepsy due to perinatal stroke	Finding site	True	Brain structure	Inferred relationship	Some	3
A type of epilepsy associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.	Finding site	True	Brain structure	Inferred relationship	Some	1
A type of epilepsy with only generalised onset epileptic seizures.	Finding site	True	Brain structure	Inferred relationship	Some	1
A type of epilepsy with only focal onset epileptic seizures. Seizures can arise from a single location or multiple locations.	Finding site	True	Brain structure	Inferred relationship	Some	1
Genetic epilepsy with febrile seizures plus	Finding site	True	Brain structure	Inferred relationship	Some	1
A type of epilepsy characterised by frequent epileptiform activity associated with developmental slowing and often regression on the background of previously normal development. In this type of epilepsy the frequent seizures and/or epileptiform discharges, rather than underlying aetiology is thought to be the only cause of developmental impairment.	Finding site	True	Brain structure	Inferred relationship	Some	1
Generalized epilepsy-paroxysmal dyskinesia syndrome is characterized by the association of paroxysmal dyskinesia and generalized epilepsy (usually absence or generalized tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.	Finding site	True	Brain structure	Inferred relationship	Some	1
Lennox-Gastaut syndrome	Finding site	True	Brain structure	Inferred relationship	Some	2
Symptomatic Lennox-Gastaut syndrome	Finding site	True	Brain structure	Inferred relationship	Some	2
A rare monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.	Finding site	True	Brain structure	Inferred relationship	Some	4
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a rare, syndromic intellectual disability syndrome characterized by cortical blindness, different types of seizures, intellectual disability with limited or absent speech, and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region.	Finding site	True	Brain structure	Inferred relationship	Some	6
A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances.	Finding site	True	Brain structure	Inferred relationship	Some	2
Cryptogenic Lennox-Gastaut syndrome	Finding site	True	Brain structure	Inferred relationship	Some	2
A rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.	Finding site	True	Brain structure	Inferred relationship	Some	3
A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD).	Finding site	True	Brain structure	Inferred relationship	Some	2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.	Finding site	True	Brain structure	Inferred relationship	Some	4
A rare genetic syndromic neurodevelopmental disorder with characteristics of moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behaviour and stereotypic movements are common. The disorder is caused by bi-allelic intragenic deletions (rarely duplications) or truncating variants in the CNTNAP2 gene (7q35-q36.1). It encodes contactin-associated protein 2 (CASPR2), a transmembrane protein from the neurexin superfamily, which is involved in neural-glia interactions and clustering of potassium channels in myelinated axons. Inheritance is autosomal recessive.	Finding site	True	Brain structure	Inferred relationship	Some	2
Reflex epilepsy	Finding site	True	Brain structure	Inferred relationship	Some	1
Primary inherited reading epilepsy	Finding site	True	Brain structure	Inferred relationship	Some	1
Secondary reading epilepsy	Finding site	True	Brain structure	Inferred relationship	Some	1
A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.	Finding site	True	Brain structure	Inferred relationship	Some	1
A type of epilepsy that presents with daily typical absence seizures usually between 4 to 10 years of age in an otherwise normal child. Absence seizures are brief but may occur in clusters and are provoked by hyperventilation. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 2.5 to 4 Hz generalized spike-wave and a normal background.	Finding site	True	Brain structure	Inferred relationship	Some	1
Epilepsy with only generalised onset epileptic seizures and generalised spike-wave, due to a genetic or presumed genetic aetiology.	Finding site	True	Brain structure	Inferred relationship	Some	1
A type of epilepsy that presents with myoclonic epileptic seizures between 4 months and 3 years of age, in an otherwise normal infant. The myoclonic epileptic seizures may be activated by sudden noise, startle, or touch, and less commonly by photic stimulation. The electroencephalogram must capture generalised epileptiform discharges or myoclonic epileptic seizures and have a normal background.	Finding site	True	Brain structure	Inferred relationship	Some	1
A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalized tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalized spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, with a normal background.	Finding site	True	Brain structure	Inferred relationship	Some	1
épilepsie partielle réfractaire idiopathique	Finding site	False	Brain structure	Inferred relationship	Some	1
Epilepsy due to scarring of brain (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Epilepsy in mother complicating childbirth (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Epilepsy in mother complicating pregnancy	Finding site	True	Brain structure	Inferred relationship	Some	1
A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood.	Finding site	True	Brain structure	Inferred relationship	Some	2
Epilepsy due to congenital anomaly of brain (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Epilepsy due to congenital infectious disease (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Epilepsy due to glucose transporter protein type 1 deficiency syndrome (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Epilepsy due to Rasmussen syndrome (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Epilepsy due to perinatal intraventricular haemorrhage	Finding site	True	Brain structure	Inferred relationship	Some	1
Epilepsy due to perinatal cerebral ischemia (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Epilepsy due to perinatal periventricular hemorrhage (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.	Finding site	True	Brain structure	Inferred relationship	Some	1
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.	Finding site	True	Brain structure	Inferred relationship	Some	1
A type of epilepsy that presents with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave and polyspike-wave and a normal background.	Finding site	True	Brain structure	Inferred relationship	Some	1
A type of epilepsy that presents with typical absence seizures between 9 and 13 years of age in an otherwise normal adolescent. The typical absence seizures usually occur less than daily in the untreated state and are provoked by hyperventilation in 87 percent of cases. Generalized tonic-clonic seizures are seen in greater than 90 percent of cases, most commonly beginning shortly after onset of absence seizures. Myoclonic seizures do not occur. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave with a normal background.	Finding site	True	Brain structure	Inferred relationship	Some	1
A type of epilepsy that presents with generalised tonic-clonic seizures usually between 10 and 25 years of age in an otherwise normal adolescent or adult. The generalised tonic-clonic seizures are typically provoked by sleep deprivation. Other seizure types do not occur. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram must show generalised epileptiform discharges or capture a generalised tonic-clonic seizure and have a normal background.	Finding site	True	Brain structure	Inferred relationship	Some	1
epilessia idiopatica correlata a localizzazione	Finding site	False	Brain structure	Inferred relationship	Some	1
épilepsie symptomatique définie par sa localisation	Finding site	False	Brain structure	Inferred relationship	Some	1
Epilepsy co-occurrent and due to demyelinating disorder (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	2
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.	Finding site	True	Brain structure	Inferred relationship	Some	3
Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background.	Finding site	True	Brain structure	Inferred relationship	Some	1
épilepsie focale avec altération de la conscience	Finding site	False	Brain structure	Inferred relationship	Some	1
Progressive myoclonic epilepsy	Finding site	True	Brain structure	Inferred relationship	Some	1
Progressive myoclonus epilepsy with ataxia (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
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.	Finding site	True	Brain structure	Inferred relationship	Some	1
épilepsie partielle complexe récidivante	Finding site	False	Brain structure	Inferred relationship	Some	2
Partial epileptic seizure of temporal lobe with impairment of consciousness	Finding site	False	Brain structure	Inferred relationship	Some	1
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.	Finding site	True	Brain structure	Inferred relationship	Some	2
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).	Finding site	True	Brain structure	Inferred relationship	Some	2
Myoclonic encephalopathy	Finding site	True	Brain structure	Inferred relationship	Some	1
Early infantile epileptic encephalopathy with suppression bursts	Finding site	True	Brain structure	Inferred relationship	Some	1
Epilepsy with continuous spike wave during slow-wave sleep	Finding site	True	Brain structure	Inferred relationship	Some	1
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.	Finding site	True	Brain structure	Inferred relationship	Some	1
A rare genetic neurological disorder characterized by a phenotypic spectrum comprising severe intellectual disability, developmental delay, and, in the majority of cases, early-onset epilepsy. The most frequent seizure type are epileptic spasms, but a broad spectrum of seizure types has been reported. Motor disturbances include ataxia, hypotonia, dystonia, tremor, spasticity, and dyskinesia. Some patients may also present with autism/autistic-like features. Older patients have been reported to show signs of parkinsonism, including tremor, bradykinesia, and antecollis.	Finding site	True	Brain structure	Inferred relationship	Some	2
A rare ARX-related epileptic encephalopathy characterized by infantile onset of myoclonic epilepsy with generalized spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalized hyperreflexia. Late onset progressive spastic ataxia has also been reported.	Finding site	True	Brain structure	Inferred relationship	Some	1
A distinct sub-group of genetic generalised epilepsy that includes only four epilepsy syndromes: childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalised tonic-clonic seizures alone.	Finding site	True	Brain structure	Inferred relationship	Some	1
A type of epilepsy that presents with myoclonic-atonic seizures usually between 2 to 6 years of age. Other generalised seizure types which may be seen in this syndrome include atonic, myoclonic, generalised tonic-clonic seizures, tonic and absence seizures. Nonconvulsive status epilepticus is common. Development prior to seizure onset is normal in two thirds of cases. These children typically show developmental stagnation or even regression during the active seizures (stormy) phase, which improves once seizures are controlled. The electroencephalogram shows generalised 2 to 6 Hz spike-wave or polyspike-and-wave abnormalities, with normal background.	Finding site	True	Brain structure	Inferred relationship	Some	1
A rare mitochondrial disease characterized by onset of episodic developmental regression in the first year of life, often in the setting of febrile illnesses, as well as hypotonia and seizures or refractory epileptic encephalopathy. Other observed features include ataxia, dystonia, or optic atrophy, among others. Patients do not achieve independent ambulation or meaningful speech. Brain imaging may show progressive cerebellar or diffuse atrophy and signal abnormalities of the basal ganglia. Serum lactate is often elevated.	Finding site	True	Brain structure	Inferred relationship	Some	1
Early myoclonic encephalopathy	Finding site	True	Brain structure	Inferred relationship	Some	1
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.	Finding site	True	Brain structure	Inferred relationship	Some	4
A rare mitochondrial disease characterized by infantile onset of severe regression after a period of normal development, epileptic encephalopathy, hypotonia, movement disorder, cardiomyopathy, hyperglycinemia, and lactic acidosis. Optic atrophy may also be present. Brain imaging findings are highly variable and include white matter abnormalities. The disease is typically fatal in infancy.	Finding site	True	Brain structure	Inferred relationship	Some	2
A rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomia with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.	Finding site	True	Brain structure	Inferred relationship	Some	2
KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.	Finding site	True	Brain structure	Inferred relationship	Some	1
An epileptic seizure originating within networks limited to one hemisphere, in which the initial manifestation is non-motor (including autonomic, behavior arrest, cognitive, emotional, or sensory onsets), with retained awareness (defined as knowledge of self and environment) throughout the entire duration of the seizure.	Finding site	True	Brain structure	Inferred relationship	Some	1
An epileptic seizure originating within networks limited to one hemisphere, in which the initial manifestation is non-motor (including autonomic, behaviour arrest, cognitive, emotional, or sensory onsets), with impaired awareness (defined as impairment of knowledge of self and environment) occurring at any point within the seizure.	Finding site	True	Brain structure	Inferred relationship	Some	1
Rasmussen syndrome	Finding site	True	Brain structure	Inferred relationship	Some	2
A rare, potentially fatal, epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE) and requires a preceding febrile infection as a mandatory feature.	Finding site	True	Brain structure	Inferred relationship	Some	3
A rare mitochondrial oxidative phosphorylation disorder characterized by a variable clinical phenotype including infantile onset of epileptic encephalopathy, hypotonia, global developmental delay, failure to thrive, complex movement disorder, and liver involvement, as well as childhood onset of severe myoclonus epilepsy, cognitive decline, progressive hearing and visual impairment, and progressive tetraparesis. Serum lactate may be increased, and brain imaging shows variable atrophy and white matter abnormalities.	Finding site	True	Brain structure	Inferred relationship	Some	3
An epileptic seizure, regardless of focal or generalised onset, in which motor activity is not prominent at onset, and with impaired awareness occurring at any point within the seizure, defined as impairment of knowledge of self and environment.	Finding site	True	Brain structure	Inferred relationship	Some	1
A rare genetic neurological disorder characterized by a phenotypic spectrum of mild to severe developmental delay and hypotonia, variably associated with intellectual disability, early-onset seizures, and movement disorders, such as dystonia, ataxia, chorea, and dyskinesia. Brain imaging may show delayed myelination, thin corpus callosum, or cerebral atrophy.	Finding site	True	Brain structure	Inferred relationship	Some	1
A type of epilepsy that presents with myoclonic-atonic seizures usually between 2 to 6 years of age. Other generalised seizure types which may be seen in this syndrome include atonic, myoclonic, generalised tonic-clonic seizures, tonic and absence seizures. Nonconvulsive status epilepticus is common. Development prior to seizure onset is normal in two thirds of cases. These children typically show developmental stagnation or even regression during the active seizures (stormy) phase, which improves once seizures are controlled. The electroencephalogram shows generalised 2 to 6 Hz spike-wave or polyspike-and-wave abnormalities, with normal background.	Finding site	True	Brain structure	Inferred relationship	Some	2
A rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.	Finding site	True	Brain structure	Inferred relationship	Some	1
West syndrome	Finding site	True	Brain structure	Inferred relationship	Some	1
An epileptic seizure originating within networks limited to one hemisphere, manifesting as an elementary perceptual experience not caused by appropriate stimuli in the external world, with impaired awareness (defined as impairment of knowledge of self and environment) occurring at any point within the seizure.	Finding site	True	Brain structure	Inferred relationship	Some	1
An epileptic seizure originating within networks limited to one hemisphere where cessation of movement and unresponsiveness are the predominant manifestations of the entire seizure, regardless of whether aware or with impaired awareness.	Finding site	True	Brain structure	Inferred relationship	Some	1
An epileptic seizure originating within networks limited to one hemisphere where cessation of movement and unresponsiveness are the predominant manifestations of the entire seizure, with retained awareness (defined as knowledge of self and environment) throughout the entire duration of the seizure.	Finding site	True	Brain structure	Inferred relationship	Some	1
An epileptic seizure originating within networks limited to one hemisphere where cessation of movement and unresponsiveness are the predominant manifestations of the entire seizure, with impaired awareness (defined as impairment of knowledge of self and environment) occurring at any point within the seizure.	Finding site	True	Brain structure	Inferred relationship	Some	1

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Reference Sets

Anatomy structure and entire association reference set (foundation metadata concept)

Anatomy structure and part association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
21867017	Brain	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
474135016	Brain structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
731463013	Brain structure (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
12511000077112	structure de l'encéphale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
903021000172119	encephalon	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
923761000172118	structure encéphalique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
978961000172112	cerveau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
989811000172119	encéphale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module