EpilepsyOntology

Last uploaded: November 8, 2021
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Preferred Name

Gray matter heterotopia
Synonyms

Heterotopia

Neuronal heterotopia

Gray matter heterotopias

Grey matter heterotopia

Heterotopias
Definitions

Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter. Gray matter heterotopia is caused by clumps of grey matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation. Neuronal heterotopia consists of grey matter within the white matter, and the term grey matter heterotopia is more frequently used.
ID

http://purl.obolibrary.org/obo/HP_0002282
comment

Gray matter heterotopia is caused by clumps of grey matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation. Neuronal heterotopia consists of grey matter within the white matter, and the term grey matter heterotopia is more frequently used.
database_cross_reference

SNOMEDCT_US:416286003

SNOMEDCT_US:128490007

MSH:D002828

UMLS:C0008519

SNOMEDCT_US:417338002
fromILAE

true
has exact synonym

Heterotopia

Neuronal heterotopia

Gray matter heterotopias

Grey matter heterotopia

Heterotopias
has_alternative_id

HP:0002281

HP:0007314
has_obo_namespace

human_phenotype
hasDefinition

Grey matter heterotopia is a malformation of cortical development, where cortical cells (grey matter) are present in inappropriate locations in the brain, due to interruption in their migration to their correct location in the cerebral cortex. Grey matter heterotopia may be unilateral or bilateral, singular or multiple, separate or contiguous.
id

HP:0002282
imported from

http://purl.obolibrary.org/obo/hp.owl
label

Gray matter heterotopia
notation

HP:0002282
prefLabel

Gray matter heterotopia
文本定义

Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.
subClassOf

http://purl.obolibrary.org/obo/NCIT_C84834
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