Hyperchylomicronemia

disorder

SNOMED 267435002CUI C0023817

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.

Acute pancreatitis

Always present (100%)HP:0001735

Elevated serum cholesterol

Always present (100%)HP:0003124

Eruptive xanthomas

Always present (100%)HP:0001013

Plasma lactescence

Always present (100%)HP:0031028

Hepatosplenomegaly

HP:0001433

Hyperlipidemia

HP:0003077

Increased chylomicrons

HP:0012238

Intermittent abdominal pain

HP:0002574

Large spleen

HP:0001744

Lipemia retinalis

HP:0000660

Nausea

HP:0002018

Premature plaque build-up in arteries

Excluded (<1%)HP:0004416

Vomiting

HP:0002013

Yellowing of the skin

HP:0000952

Related Conditions

Familial lipoprotein lipase deficiency with type I phenotype(child)

Familial lipoprotein lipase deficiency with type V phenotype(child)

Familial hypertriglyceridemia(parent)

Quick Facts

SNOMED CT: 267435002
UMLS CUI: C0023817
Fully Specified Name: Familial hyperchylomicronemia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.