Metabolic myopathy due to lactate transporter defect

disorder

SNOMED 766715000CUI C1855577

Overview

Metabolic myopathy due to lactate transporter defect 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 circulating creatine phosphokinase

Always present (100%)HP:0003236

Abnormal electromyography finding

Excluded (<1%)HP:0003457

Exercise-induced muscle fatigue

HP:0009020

Muscle cramps with exertion

HP:0003710

Muscle stiffness with exercise

HP:0008967

Related Conditions

Metabolic myopathy(parent)

Hereditary disorder of musculoskeletal system(parent)

Autosomal dominant hereditary disorder(parent)

Congenital disease(parent)

Quick Facts

SNOMED CT: 766715000
UMLS CUI: C1855577
Fully Specified Name: Metabolic myopathy due to lactate transporter defect (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 5

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.