Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Focal onset epileptic seizure (finding) |
Is a |
False |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Generalized-onset seizures |
Is a |
False |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Epileptic vertigo |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Unclassified epileptic seizures |
Is a |
False |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Epilepsy |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
H/O: anticonvulsant therapy |
Associated finding |
False |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Situation-related seizures |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Neonatal seizure (finding) |
Is a |
False |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Seizures due to metabolic disorder |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Family history of seizure disorder (situation) |
Associated finding |
False |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Family history of seizure disorder (situation) |
Associated finding |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Family history of seizure disorder (situation) |
Associated finding |
False |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Seizure disorder as sequela of stroke |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability with seizure and psoriasis syndrome (disorder) |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Ganglioside GM3 synthase deficiency (disorder) |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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 |
Existential restriction modifier (core metadata concept) |
|
Sequela following seizure (disorder) |
After |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Microcephaly, seizure, intellectual disability, heart disease syndrome |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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 |
Existential restriction modifier (core metadata concept) |
|
Seizure co-occurrent and due to drug withdrawal |
Is a |
False |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Convulsive syncope |
Is a |
False |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Eclampsia |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Familial febrile convulsions |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Pitt-Hopkins syndrome |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Purine rich element binding protein A syndrome (disorder) |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
5q31.3 microdeletion syndrome |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
PEHO-like syndrome is a rare, genetic neurological disease characterised by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb oedema, 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 |
Existential restriction modifier (core metadata concept) |
|
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder) |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Disease with characteristics of seizures that are resistant to treatment and begin in infancy. Development is impaired most children have severe intellectual disability and little or no speech. Common features include stereotypies, bruxism, disrupted sleep, feeding difficulties and gastrointestinal problems. Some individuals have distinctive facial features including a high and broad forehead, large and deep-set eyes, a well-defined philtrum, high palate. Microcephaly, scoliosis and tapered fingers have also been reported. Caused by mutations in the CDKL5 gene, which disrupts brain development. Inherited in an X-linked dominant pattern. The CDKL5 gene is located on the X chromosome however almost all cases of this condition result from de novo mutations in the CDKL5 gene. |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cutis laxa mit schweren Lungen-, Magen-, Darm- und Harnwegs-Anomalien |
Is a |
False |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Refractory infantile spasms (disorder) |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare genetic neurologic disease with characteristics of 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). There is evidence the disease is caused by heterozygous mutation in the CACNA1D gene on chromosome 3p21. |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
convulsions dissociatives |
Is a |
False |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Myoclonic seizure |
Is a |
False |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Atonic seizure |
Is a |
False |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
First generalized onset seizure |
Is a |
False |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Typical absence status epilepticus (finding) |
Is a |
False |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Atypical absence status epilepticus (finding) |
Is a |
False |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Intractable absence seizures |
Is a |
False |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Intellectual disability, epilepsy, extrapyramidal syndrome |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Seizures, scoliosis, macrocephaly syndrome (disorder) |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterised 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 behaviour, and café-au-lait spots, among others. |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder) |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Aicardi's syndrome |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Seizure co-occurrent and due to substance withdrawal |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Primary hypomagnesemia, refractory seizures, intellectual disability syndrome |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
convulsions néonatales familiales |
Is a |
False |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Seizures complicating intracranial hemorrhage in the newborn |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
New-onset refractory status epilepticus |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Interferon regulatory factor 2 binding protein like-related regressive neurodevelopmental disorder, dystonia, seizures syndrome (disorder) |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Microphthalmia with brain atrophy syndrome (disorder) |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome |
Is a |
True |
Seizure disorder |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|