Maternally inherited cardiomyopathy and deafness

disorder

SNOMED 724173009CUI C4510409

Overview

Maternally inherited cardiomyopathy and deafness 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.

Ataxia

Very frequent (80-99%)HP:0001251

Cardiomyopathy, hypertrophic

Very frequent (80-99%)HP:0001639

Gait disturbance

Very frequent (80-99%)HP:0001288

Global developmental delay, mild

Very frequent (80-99%)HP:0011342

Muscle weakness

Very frequent (80-99%)HP:0001324

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Slurred speech

Very frequent (80-99%)HP:0001350

Abnormal electromyography finding

Frequent (30-79%)HP:0003457

Abnormality of cardiovascular system morphology

Frequent (30-79%)HP:0030680

Cardiac insufficiency

Frequent (30-79%)HP:0001635

Encephalopathy

Frequent (30-79%)HP:0001298

External ophthalmoplegia, progressive

Frequent (30-79%)HP:0000590

Extraocular muscle palsy

Frequent (30-79%)HP:0000597

Higher than normal levels of lactate in blood

Frequent (30-79%)HP:0002151

Increased serum pyruvate

Frequent (30-79%)HP:0003542

Intellectual deterioration

Frequent (30-79%)HP:0001268

Lower limb pain

Frequent (30-79%)HP:0012514

Panting

Frequent (30-79%)HP:0002094

Poor exercise tolerance

Frequent (30-79%)HP:0003546

Ragged-red muscle fibers

Frequent (30-79%)HP:0003200

Stretched and thinned heart muscle

Frequent (30-79%)HP:0001644

Chest pain

Occasional (5-29%)HP:0100749

Febrile seizure (within the age range of 3 months to 6 years)

Occasional (5-29%)HP:0002373

High blood pressure

Occasional (5-29%)HP:0000822

Increased fat tissue

Occasional (5-29%)HP:0009126

Increased reflexes

Occasional (5-29%)HP:0001347

Multiple lipomas

Occasional (5-29%)HP:0001012

Muscle pain

Occasional (5-29%)HP:0003326

Neuropathy

Occasional (5-29%)HP:0009830

Tiredness

Occasional (5-29%)HP:0012378

Related Conditions

Sensorineural hearing loss(parent)

Hearing loss associated with syndrome(parent)

Hypertrophic cardiomyopathy(parent)

Mitochondrial cytopathy(parent)

Cardiovascular system hereditary disorder(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 724173009
UMLS CUI: C4510409
Fully Specified Name: Maternally inherited cardiomyopathy and hearing loss syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.