Pachygyria, intellectual disability, epilepsy syndrome

disorder

SNOMED 763861000CUI C1838491

Overview

Pachygyria, intellectual disability, epilepsy syndrome 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.

Cognitive delay

Very frequent (80-99%)HP:0001263

Epilepsy

Very frequent (80-99%)HP:0001250

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Premature birth

Frequent (30-79%)HP:0001622

Atypical absence

HP:0007270

Cerebral pachygyria

HP:0001302

Dull intelligence

HP:0001249

Fluid-filled sac located in membrane surrounding brain or spinal cord

HP:0100702

Generalized tonic-clonic seizure (without specification of onset)

HP:0002069

Profound static encephalopathy

HP:0007069

Skeletal anomalies

HP:0000924

Related Conditions

Macrogyria(parent)

Arachnoid cyst(parent)

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Seizure disorder(parent)

Hereditary disorder of nervous system(parent)

Congenital malformation of the meninges(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 763861000
UMLS CUI: C1838491
Fully Specified Name: Pachygyria, intellectual disability, epilepsy syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

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.