Hemimegalencephaly

disorder

SNOMED 253170008CUI C0431391

Overview

Hemimegalencephaly is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Epilepsy

Very frequent (80-99%)HP:0001250

Hyperintensity of cerebral white matter on MRI

Very frequent (80-99%)HP:0030890

Interictal EEG abnormality

Very frequent (80-99%)HP:0025373

Abnormality of cranium shape

Frequent (30-79%)HP:0000267

Abnormality of the skull bones

Frequent (30-79%)HP:0000929

Cognitive delay

Frequent (30-79%)HP:0001263

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

EEG with burst suppression

Frequent (30-79%)HP:0010851

EEG with focal sharp slow waves

Frequent (30-79%)HP:0011195

EEG with focal spikes

Frequent (30-79%)HP:0011193

EEG: spike and multispike waves, 3-4 hz

Frequent (30-79%)HP:0002392

Focal cortical dysplasia

Frequent (30-79%)HP:0032046

Hemihypsarrhythmia

Frequent (30-79%)HP:0011215

Hemimegalencephaly

Frequent (30-79%)HP:0007206

Localized motor seizures

Frequent (30-79%)HP:0011153

More grooves in brain

Frequent (30-79%)HP:0002126

Abnormal neuronal morphology

Occasional (5-29%)HP:0012757

Big calvaria

Occasional (5-29%)HP:0000256

Cerebral pachygyria

Occasional (5-29%)HP:0001302

Cranial nerve paralysis

Occasional (5-29%)HP:0006824

Excess astrocytes in brain

Occasional (5-29%)HP:0002171

Focal tonic seizure

Occasional (5-29%)HP:0011167

Functional motor deficit

Occasional (5-29%)HP:0004302

Hemianopia

Occasional (5-29%)HP:0012377

Hemiparesis

Occasional (5-29%)HP:0001269

Heterotopias

Occasional (5-29%)HP:0002282

Involuntary jerking movements

Occasional (5-29%)HP:0001336

Mental retardation, severe

Occasional (5-29%)HP:0010864

Oculomotor neuropathy

Occasional (5-29%)HP:0012246

Optic atrophy

Occasional (5-29%)HP:0000648

Related Conditions

Macroencephaly(parent)

Quick Facts

SNOMED CT: 253170008
UMLS CUI: C0431391
Fully Specified Name: Hemimegalencephaly (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.