Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

disorder

SNOMED 773726000CUI C4751204

Overview

Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 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.

Acute hepatic steatosis

Very frequent (80-99%)HP:0006573

Cholesterol gallstones

Very frequent (80-99%)HP:0011980

Elevated serum cholesterol

Very frequent (80-99%)HP:0003124

Fatty liver

Very frequent (80-99%)HP:0001397

Hepatitis

Very frequent (80-99%)HP:0012115

Increased plasma LDL levels

Very frequent (80-99%)HP:0003141

Increased triglycerides

Very frequent (80-99%)HP:0002155

Macrovesicular steatosis

Very frequent (80-99%)HP:0001403

Slowed or blocked flow of bile from liver

Very frequent (80-99%)HP:0001396

Abnormal circulating vitamin A concentration

Frequent (30-79%)HP:0008372

Abnormal circulating vitamin E concentration

Frequent (30-79%)HP:0100514

Accelerated atherosclerosis

Frequent (30-79%)HP:0004943

Atherosclerosis of the aorta

Frequent (30-79%)HP:0012397

Obesity

Frequent (30-79%)HP:0001513

Plaque build-up in arteries supplying blood to heart

Frequent (30-79%)HP:0001677

Related Conditions

Synthetic defect of bile acids(parent)

Hypercholesterolemia(parent)

Quick Facts

SNOMED CT: 773726000
UMLS CUI: C4751204
Fully Specified Name: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.