Maternal uniparental disomy of chromosome 21

disorder

SNOMED 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

Related Conditions

Anomaly of chromosome pair 21(parent)

Uniparental disomy of maternal origin(parent)

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.