Intellectual disability, epilepsy, extrapyramidal syndrome

disorder

SNOMED 1187210007CUI C5568848

Overview

Intellectual disability, epilepsy, extrapyramidal 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.

Brain imaging abnormality

Very frequent (80-99%)HP:0410263

Constipation

Very frequent (80-99%)HP:0002019

Global developmental delay, severe

Very frequent (80-99%)HP:0011344

Mental deficiency

Very frequent (80-99%)HP:0001249

Poor eye contact

Very frequent (80-99%)HP:0000817

Trouble sleeping

Very frequent (80-99%)HP:0002360

Abnormality of pain sensation

Frequent (30-79%)HP:0010832

Autism

Frequent (30-79%)HP:0000717

Decreased size of cranium

Frequent (30-79%)HP:0000252

Emotional lability

Frequent (30-79%)HP:0000712

Feeding difficulties

Frequent (30-79%)HP:0011968

Hypotonia, early

Frequent (30-79%)HP:0008947

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Loss of acquired milestones

Frequent (30-79%)HP:0002376

physical aggression

Frequent (30-79%)HP:0000718

Susceptibility to infection

Frequent (30-79%)HP:0002719

Walking on tiptoes

Frequent (30-79%)HP:0030051

Wide based walk

Frequent (30-79%)HP:0002136

Abnormality of balance

Occasional (5-29%)HP:0002141

Autism spectrum disorder

Occasional (5-29%)HP:0000729

Big calvaria

Occasional (5-29%)HP:0000256

Clumsiness

Occasional (5-29%)HP:0002312

Drooling

Occasional (5-29%)HP:0002307

Epilepsy

Occasional (5-29%)HP:0001250

Involuntary movements

Occasional (5-29%)HP:0004305

No speech development

Occasional (5-29%)HP:0001344

Prolonged seizure

Occasional (5-29%)HP:0002133

Psychomotor agitation

Occasional (5-29%)HP:0000713

Unsteady walk

Occasional (5-29%)HP:0002317

Waddling gait

Occasional (5-29%)HP:0002515

Related Conditions

Seizure disorder(parent)

Developmental disorder of motor function(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Hereditary disorder of nervous system(parent)

Disease of skeletal muscle(parent)

Recessive hereditary disorder (autosomal)(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1187210007
UMLS CUI: C5568848
Fully Specified Name: Intellectual disability, epilepsy, extrapyramidal syndrome (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.