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POMA - perioral myoclonia with absences

disorder
SNOMED 766815007CUI C4707846

Overview

POMA - perioral myoclonia with absences 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.

EEG with spike-wave complexes
Always present (100%)HP:0010850
Generalized tonic-clonic seizure (without specification of onset)
Always present (100%)HP:0002069
Chin myoclonus
Very frequent (80-99%)HP:0012462
Focal seizure with eyelid myoclonia
Very frequent (80-99%)HP:0011168
Loss of speech
Very frequent (80-99%)HP:0002371
Lowered consciousness
Very frequent (80-99%)HP:0004372
Generalized non-motor (absence) seizure
Frequent (30-79%)HP:0002121
Mental-retardation
Frequent (30-79%)HP:0001249
Myoclonic epilepsy, progressive
Frequent (30-79%)HP:0002123
Falls
Occasional (5-29%)HP:0002527

Quick Facts

SNOMED CT
766815007
UMLS CUI
C4707846
Fully Specified Name
Perioral myoclonia with absences (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
10
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.