Mitochondrial myopathy, lactic acidosis, deafness syndrome

disorder

SNOMED 732951005CUI C4518539

Overview

Mitochondrial myopathy, lactic acidosis, deafness syndrome 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 electromyography finding

Very frequent (80-99%)HP:0003457

Hyperalaninemia

Very frequent (80-99%)HP:0003348

Metabolic acidosis

Very frequent (80-99%)HP:0001942

Mitochondrial myopathy

Very frequent (80-99%)HP:0003737

Muscle atrophy, neurogenic

Very frequent (80-99%)HP:0003202

Myopathy

Very frequent (80-99%)HP:0003198

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Vaginal fistula

Very frequent (80-99%)HP:0004320

Epilepsy

Frequent (30-79%)HP:0001250

Related Conditions

Mitochondrial myopathy(parent)

Sensorineural hearing loss(parent)

Lactic acidosis(parent)

Hearing loss associated with syndrome(parent)

Quick Facts

SNOMED CT: 732951005
UMLS CUI: C4518539
Fully Specified Name: Mitochondrial myopathy, lactic acidosis, deafness syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

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.