Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Localized cortical dysplasia |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
1 |
Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated. |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
1 |
syndrome de dysplasie corticale-épilepsie focale |
Finding site |
False |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
1 |
A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease. |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
2 |
A rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated. |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
1 |
A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis. |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
1 |
Rhinocerebral mucormycosis |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
1 |
Sensory somatic cortical disorder |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
1 |
Corticobasal degeneration |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
2 |
Microdysgenesis |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
1 |
Speech cortex disorder |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
1 |
Cortical vascular dementia (disorder) |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
1 |
Van Bogaert's sclerosing leukoencephalitis |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
1 |
Cortex contusion with open intracranial wound AND concussion |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
4 |
Cerebral cortex laceration with concussion (disorder) |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
1 |
Focal cortical dysplasia is a congenital abnormality with abnormal organisation of the cortical layers of the brain. These lesions frequently cause refractory epilepsy. Type II usually presents in children. More extensive changes occur outside the temporal lobe and commonly in the frontal lobe. |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
1 |
Focal cortical dysplasia type Ib |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
1 |
Focal cortical dysplasia is a congenital abnormality with abnormal organization of the cortical layers of the brain. These lesions frequently cause refractory epilepsy. Type Ia presents late with mild symptoms and is more often seen in adults. Changes are present in the temporal lobe and are restricted to cortical dyslamination. |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
1 |
Focal cortical dysplasia is a congenital abnormality with abnormal organisation of the cortical layers of the brain. These lesions frequently cause refractory epilepsy. Type II usually presents in children. More extensive changes occur outside the temporal lobe and commonly in the frontal lobe. Type IIa is histologically distinct due to the absence of balloon cells. |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
1 |
Focal cortical dysplasia is a congenital abnormality with abnormal organization of the cortical layers of the brain. These lesions frequently cause refractory epilepsy. Type II usually presents in children. More extensive changes occur outside the temporal lobe and commonly in the frontal lobe. Type IIb is histologically distinct due to the presence of balloon cells. |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
1 |
Progressive supranuclear palsy parkinsonism syndrome (disorder) |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
1 |
Progressive supranuclear palsy progressive non fluent aphasia |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
1 |
A rare, genetic, neurodevelopmental disorder with primordial microcephaly characterized by primary microcephaly, moderate to severe intellectual disability, and global developmental delay. Variable brain malformations are common ranging from simplified gyration, to cortical malformations such as pachygyria, polymicrogyria, reduced sulcation and midline defects. Craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) are related to the primary microcephaly. Short stature is frequently observed and may be severe. |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
2 |
A rare, genetic, complex cerebral cortical malformation characterized by generalized or focal dysgyria (also named polymicrogyria-like cortical dysplasia) or alternatively by microlissencephaly with dysmorphic basal ganglia and dysgenesis of the corpus callosum. Clinical manifestations are variable and include microcephaly, seizures, hypotonia, developmental delay, severe psychomotor delay, ataxia, spastic diplegia or tetraplegia, and ocular abnormalities (strabismus, ptosis or optic atrophy). |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
1 |
A rare neurologic disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction. |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
2 |
Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterised by the occurrence of seizures during the first year of life and choreoathetotic dyskinetic attacks during childhood or adolescence. |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
1 |
Hemiatrophy of cerebral cortex |
Finding site |
True |
Structure of cerebral cortex (body structure) |
Inferred relationship |
Some |
1 |