Hepatic lipase deficiency

disorder

SNOMED 720940008CUI C3151466

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

Increased HDL cholesterol concentration

Always present (100%)HP:0012184

Increased triglycerides

Always present (100%)HP:0002155

Eruptive xanthomas

Very frequent (80-99%)HP:0001013

Angina pectoris

Frequent (30-79%)HP:0001681

Corneal arcus

Frequent (30-79%)HP:0001084

Premature coronary artery atherosclerosis

Frequent (30-79%)HP:0005181

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Dyslipidemia(parent)

Quick Facts

SNOMED CT: 720940008
UMLS CUI: C3151466
Fully Specified Name: Hepatic lipase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 7

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.