Lethal infantile mitochondrial myopathy

disorder

SNOMED 766251006CUI C1838876

Overview

Lethal infantile mitochondrial myopathy 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.

Disease of the heart muscle

Frequent (30-79%)HP:0001638

External ophthalmoplegia, progressive

Frequent (30-79%)HP:0000590

Renal insufficiency

Frequent (30-79%)HP:0000083

Severe lactic acidosis

Frequent (30-79%)HP:0004900

Severe psychomotor retardation

Frequent (30-79%)HP:0011344

Absent deep tendon reflexes

Occasional (5-29%)HP:0001284

Epilepsy

Occasional (5-29%)HP:0001250

Fatal liver failure in infancy

Occasional (5-29%)HP:0006583

Generalized low muscle tone in neonate

Occasional (5-29%)HP:0008935

Inactivity

Occasional (5-29%)HP:0001254

Respiratory distress, neonatal

Occasional (5-29%)HP:0002643

Lacticacidosis

HP:0003128

Lethal infantile mitochondrial myopathy

HP:0009069

Myopathy

HP:0003198

Related Conditions

Mitochondrial myopathy(parent)

Disorder of mitochondrial respiratory chain complexes(parent)

Hereditary disorder of musculoskeletal system(parent)

Quick Facts

SNOMED CT: 766251006
UMLS CUI: C1838876
Fully Specified Name: Lethal infantile mitochondrial myopathy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.