Benign familial infantile epilepsy

disorder

SNOMED 1237571004CUI C5575231

Overview

Benign familial infantile epilepsy 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.

Neonatal seizure

Very frequent (80-99%)HP:0032807

Normal interictal EEG

Very frequent (80-99%)HP:0002372

Apnea

Frequent (30-79%)HP:0002104

Athetoid movements

Frequent (30-79%)HP:0002305

Choreiform movements

Frequent (30-79%)HP:0002072

Choreoathetosis

Frequent (30-79%)HP:0001266

Complex partial seizures

Frequent (30-79%)HP:0002384

Dystonic disease

Frequent (30-79%)HP:0001332

Epilepsy

Frequent (30-79%)HP:0001250

Focal clonic seizure

Frequent (30-79%)HP:0002266

Focal seizures

Frequent (30-79%)HP:0007359

Focal tonic seizure

Frequent (30-79%)HP:0011167

Generalised tonic seizures

Frequent (30-79%)HP:0010818

Generalized clonic seizures

Frequent (30-79%)HP:0011169

Involuntary movements

Frequent (30-79%)HP:0004305

Localized motor seizures

Frequent (30-79%)HP:0011153

Paroxysmal dyskinesia

Frequent (30-79%)HP:0007166

Partial autonomic seizure with altered responsiveness

Frequent (30-79%)HP:0032755

Secondary generalized tonic clonic seizures

Frequent (30-79%)HP:0007334

Blue discoloration of the skin

Occasional (5-29%)HP:0000961

Complex febrile seizures

Occasional (5-29%)HP:0011172

Experiential auras

Occasional (5-29%)HP:0012002

Eyelid myoclonia seizure

Occasional (5-29%)HP:0032678

Focal head nodding automatism seizure

Occasional (5-29%)HP:0032906

Generalized non-motor (absence) seizure

Occasional (5-29%)HP:0002121

Generalized tonic-clonic seizure (without specification of onset)

Occasional (5-29%)HP:0002069

Hypertonia

Occasional (5-29%)HP:0001276

Myoclonus of limbs

Occasional (5-29%)HP:0045084

Neonatal electroclinical seizure with behavioral arrest

Occasional (5-29%)HP:0032823

Interictal epileptiform activity

Very rare (1-4%)HP:0011182

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary disorder of nervous system(parent)

SeLIE - self-limited infantile epilepsy(parent)

Quick Facts

SNOMED CT: 1237571004
UMLS CUI: C5575231
Fully Specified Name: Self-limited familial infantile epilepsy (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.