Familial hypercholesterolemia - homozygous

disorder

SNOMED 238078005CUI C0342881

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Elevated serum cholesterol

Always present (100%)HP:0003124

Hyperlipidemia

Always present (100%)HP:0003077

Increased plasma LDL levels

Always present (100%)HP:0003141

Premature arteriosclerosis

Very frequent (80-99%)HP:0005177

Premature atherosclerosis

Very frequent (80-99%)HP:0004416

Abnormal internal carotid artery morphology

Frequent (30-79%)HP:3000062

Abnormality of the sinew

Frequent (30-79%)HP:0100261

Angina pectoris

Frequent (30-79%)HP:0001681

Atherosclerosis of the aorta

Frequent (30-79%)HP:0012397

Cardiac murmur

Frequent (30-79%)HP:0030148

Cerebral artery atherosclerosis

Frequent (30-79%)HP:0007201

Coronary disease

Frequent (30-79%)HP:0001677

Fatty liver

Frequent (30-79%)HP:0001397

High blood pressure

Frequent (30-79%)HP:0000822

Left ventricular failure

Frequent (30-79%)HP:0005162

Myocardial infarction

Frequent (30-79%)HP:0001658

Myocardial steatosis

Frequent (30-79%)HP:0006693

Narrowing of kidney artery

Frequent (30-79%)HP:0001920

Occlusive arterial disease

Frequent (30-79%)HP:0004950

Panting

Frequent (30-79%)HP:0002094

Premature coronary artery atherosclerosis

Frequent (30-79%)HP:0005181

Sudden cardiac death

Frequent (30-79%)HP:0001645

Arthralgias

Occasional (5-29%)HP:0002829

Calcification of the aorta

Occasional (5-29%)HP:0004963

Fatty kidney

Occasional (5-29%)HP:0000799

Mitral regurgitation, mild

Occasional (5-29%)HP:0001653

Supravalvular aortic stenosis

Occasional (5-29%)HP:0004381

Tendon xanthomas

Occasional (5-29%)HP:0010874

Xanthomatosis

Occasional (5-29%)HP:0000991

Abnormal nervous system physiology

Very rare (1-4%)HP:0012638

Related Conditions

Familial hypercholesterolaemia due to homozygous LDL receptor mutation(child)

Familial hypercholesterolaemia(parent)

Autosomal hereditary disorder(parent)

Quick Facts

SNOMED CT: 238078005
UMLS CUI: C0342881
Fully Specified Name: Familial hypercholesterolemia - homozygous (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.