Benign neonatal familial convulsions

disorder

SNOMED 230410004CUI C0220669

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Focal clonic seizure

Very frequent (80-99%)HP:0002266

Focal EEG discharges with secondary generalization

Very frequent (80-99%)HP:0011188

Focal seizures

Very frequent (80-99%)HP:0007359

Focal tonic seizure

Very frequent (80-99%)HP:0011167

Neonatal seizure

Very frequent (80-99%)HP:0032807

Apnea

Frequent (30-79%)HP:0002104

Circumoral cyanosis

Frequent (30-79%)HP:0032556

Clonus

Frequent (30-79%)HP:0002169

Focal autonomic seizures

Frequent (30-79%)HP:0011154

Generalised tonic seizures

Frequent (30-79%)HP:0010818

Myoclonus of limbs

Frequent (30-79%)HP:0045084

Gastro-esophageal reflux

Occasional (5-29%)HP:0002020

Simple febrile seizures

Occasional (5-29%)HP:0011171

Truncal hypotonia

Occasional (5-29%)HP:0008936

Twitching of facial muscles

Occasional (5-29%)HP:0011468

Increased theta frequency activity in EEG

Very rare (1-4%)HP:0031535

Prolonged seizure

Very rare (1-4%)HP:0002133

Related Conditions

Self-limited neonatal epilepsy(parent)

Autosomal dominant hereditary disorder(parent)

Hereditary disorder of nervous system(parent)

Quick Facts

SNOMED CT: 230410004
UMLS CUI: C0220669
Fully Specified Name: Self-limited familial neonatal epilepsy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 17

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.