Generalized epilepsy and paroxysmal dyskinesia syndrome

disorder

SNOMED 715629001CUI C1836173

Overview

Generalized epilepsy and paroxysmal dyskinesia 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.

Brisk deep tendon reflexes

Always present (100%)HP:0001348

EEG with 3-4-Hz spike waves

Frequent (30-79%)HP:0010849

Generalised-onset seizure

Frequent (30-79%)HP:0002197

Involuntary dystonic or choreiform movements

Frequent (30-79%)HP:0007166

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Bilateral tonic-clonic seizure with generalized onset

Occasional (5-29%)HP:0025190

Choreiform movements

Occasional (5-29%)HP:0002072

Esotropia

Occasional (5-29%)HP:0000565

Generalised decreased muscle tone

Occasional (5-29%)HP:0001290

Generalized non-motor (absence) seizure

Occasional (5-29%)HP:0002121

Generalized tonic-clonic seizure (without specification of onset)

Occasional (5-29%)HP:0002069

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Mental retardation, borderline

Occasional (5-29%)HP:0006889

Psychomotor development deficiency

Occasional (5-29%)HP:0001263

Epilepsy

Excluded (<1%)HP:0001250

Related Conditions

Autosomal dominant hereditary disorder(parent)

Generalized epilepsy(parent)

Hereditary disorder of nervous system(parent)

Quick Facts

SNOMED CT: 715629001
UMLS CUI: C1836173
Fully Specified Name: Generalized epilepsy and paroxysmal dyskinesia syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.