FDB - Familial defective apolipoprotein B-100

disorder

SNOMED 238081000CUI C1704417

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.

Increased plasma LDL levels

Very frequent (80-99%)HP:0003141

Elevated serum cholesterol

Frequent (30-79%)HP:0003124

Arcus juvenilis

HP:0001084

Plaque build-up in arteries supplying blood to heart

HP:0001677

Xanthoma

HP:0001114

Related Conditions

Primary hypercholesterolemia(parent)

Quick Facts

SNOMED CT: 238081000
UMLS CUI: C1704417
Fully Specified Name: Familial defective apolipoprotein B-100 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 5

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.