Familial lecithin cholesterol acyltransferase deficiency

disorder

SNOMED 1264565005CUI C0023195

Overview

Familial lecithin cholesterol acyltransferase 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.

Corneal arcus

Always present (100%)HP:0001084

Decreased lecithin cholesterol acyl transferase level

Always present (100%)HP:0025433

Proteinuria

Always present (100%)HP:0000093

Foamy macrophages

HP:0003651

Hemolytic anaemia

HP:0001878

Hypoalphalipoproteinemia

HP:0003233

Increased triglycerides

HP:0002155

Normochromic anaemia

HP:0001895

Renal insufficiency

HP:0000083

Related Conditions

Familial disease(parent)

Lecithin cholesterol acyltransferase deficiency(parent)

Quick Facts

SNOMED CT: 1264565005
UMLS CUI: C0023195
Fully Specified Name: Familial lecithin cholesterol acyltransferase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

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.