Proximal myopathy with focal depletion of mitochondria

disorder

SNOMED 1197756002CUI C1833453

Overview

Proximal myopathy with focal depletion of mitochondria 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.

Elevated serum creatine phosphokinase

HP:0003236

Muscle pain with exercise

HP:0003738

Proximal limb muscle weakness

HP:0003701

Related Conditions

Chronic musculoskeletal disorder(parent)

Proximal myopathy(parent)

Genetic disease(parent)

Quick Facts

SNOMED CT: 1197756002
UMLS CUI: C1833453
Fully Specified Name: Proximal myopathy with focal depletion of mitochondria (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 3

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.