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Maternal uniparental disomy of chromosome 21
disorderSNOMED 782691006CUI C5190523
Overview
Maternal uniparental disomy of chromosome 21 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.
Reduced muscle phosphoglycerate mutase activity
Very frequent (80-99%)HP:6000197
Elevated serum creatine phosphokinase
Frequent (30-79%)HP:0003236
Muscle cramps with exertion
Frequent (30-79%)HP:0003710
Muscle fibre tubular aggregates
Frequent (30-79%)HP:0100301
Muscle pain
Frequent (30-79%)HP:0003326
Myoglobinuria
Frequent (30-79%)HP:0002913
Poor exercise tolerance
Frequent (30-79%)HP:0003546
Acute kidney injury
Occasional (5-29%)HP:0001919
Acute rhabdomyolysis
Occasional (5-29%)HP:0008942
Muscle weakness
Occasional (5-29%)HP:0001324
Quick Facts
- SNOMED CT
- 782691006
- UMLS CUI
- C5190523
- Fully Specified Name
- Maternal uniparental disomy of chromosome 21 (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.