Fazio-Londe syndrome

disorder

SNOMED 230246005CUI C0393540

Overview

By MedlinePlus, National Library of Medicine

NIH: National Institute of Neurological Disorders and Stroke Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Bilateral facial weakness

HP:0001349

Bulbar palsies

HP:0001283

Deglutition disorder

HP:0002015

Diminished diaphragmatic motion

HP:0009113

Eyelid ptosis

HP:0000508

Generalised hyperreflexia

HP:0007034

Progressive inspiratory stridor

HP:0005951

Related Conditions

Progressive bulbar palsy(parent)

Spinal muscular atrophy(parent)

Chronic brain syndrome(parent)

Quick Facts

SNOMED CT: 230246005
UMLS CUI: C0393540
Fully Specified Name: Progressive bulbar palsy of childhood (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 7

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.