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Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
disorderSNOMED 717821004CUI C4303568
Overview
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency 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.
Abnormal heart rate
Frequent (30-79%)HP:0011675
Cardiomyocyte hypertrophy
Frequent (30-79%)HP:0031319
Decreased muscle glycogen content
Frequent (30-79%)HP:0012270
Decreased muscle mass
Frequent (30-79%)HP:0003199
Disease of the heart muscle
Frequent (30-79%)HP:0001638
EKG: T-wave inversion
Frequent (30-79%)HP:0010872
EMG: myopathic changes
Frequent (30-79%)HP:0003458
Exertional dyspnea
Frequent (30-79%)HP:0002875
Inability to heel walk
Frequent (30-79%)HP:0009027
Increased mitochondrial number
Frequent (30-79%)HP:0040014
Lax abdominal musculature
Frequent (30-79%)HP:0009023
Neck flexion weakness
Frequent (30-79%)HP:0003722
Right bundle-branch block
Frequent (30-79%)HP:0011712
Shoulder weakness
Frequent (30-79%)HP:0003547
Skipped heart beat
Frequent (30-79%)HP:0001962
ST segment elevation
Frequent (30-79%)HP:0012251
Thickened interventricular septum
Frequent (30-79%)HP:0005144
Upper limb muscle weakness
Frequent (30-79%)HP:0003484
Ventricular fibrillation
Frequent (30-79%)HP:0001663
Ventricular hypertrophy
Frequent (30-79%)HP:0001714
Ventricular tachycardia
Frequent (30-79%)HP:0004756
Vertigo
Frequent (30-79%)HP:0002321
Quick Facts
- SNOMED CT
- 717821004
- UMLS CUI
- C4303568
- Fully Specified Name
- Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 22
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.