Primary triglyceride deposit cardiomyovasculopathy

disorder

SNOMED 1279844009CUI C5680124

Overview

Primary triglyceride deposit cardiomyovasculopathy 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 cardiomyocyte morphology

Very frequent (80-99%)HP:0031331

Abnormal circulating enzyme concentration or activity

Very frequent (80-99%)HP:0012379

Enlarged lysosomal vacuoles in lymphocytes

Very frequent (80-99%)HP:0001922

Increased muscle lipid content

Very frequent (80-99%)HP:0009058

Skeletal myopathy

Very frequent (80-99%)HP:0003756

Abnormal calf muscles

Frequent (30-79%)HP:0001430

Abnormality of shoulder musculature

Frequent (30-79%)HP:0001435

Angina pectoris

Frequent (30-79%)HP:0001681

Cardiac arrhythmias

Frequent (30-79%)HP:0011675

Diabetes mellitus

Frequent (30-79%)HP:0000819

Disease of the heart muscle

Frequent (30-79%)HP:0001638

Elevated circulating creatine phosphokinase

Frequent (30-79%)HP:0003236

Enlarged liver

Frequent (30-79%)HP:0002240

Hyperlipidemia

Frequent (30-79%)HP:0003077

Low-output congestive heart failure

Frequent (30-79%)HP:0009805

Narrowing of coronary artery

Frequent (30-79%)HP:0005145

Panting

Frequent (30-79%)HP:0002094

Plaque build-up in arteries supplying blood to heart

Frequent (30-79%)HP:0001677

Precordial pain

Frequent (30-79%)HP:0032141

Skipped heart beat

Frequent (30-79%)HP:0001962

Inflammatory abnormality of the skin

Occasional (5-29%)HP:0011123

Low intelligence

Occasional (5-29%)HP:0001249

Pancreatitis

Occasional (5-29%)HP:0001733

Renal artery atherosclerosis

Occasional (5-29%)HP:0031684

Rimmed vacuoles

Occasional (5-29%)HP:0003805

Sensorineural deafness

Occasional (5-29%)HP:0000407

Eye disease

Very rare (1-4%)HP:0000478

Large spleen

Very rare (1-4%)HP:0001744

Related Conditions

Lipid storage disease(parent)

Disorder of lipid metabolism(parent)

Cardiovascular system hereditary disorder(parent)

Myocardial disease(parent)

Recessive hereditary disorder (autosomal)(parent)

Abnormality of coronary artery morphology(parent)

Quick Facts

SNOMED CT: 1279844009
UMLS CUI: C5680124
Fully Specified Name: Primary triglyceride deposit cardiomyovasculopathy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 28

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.