Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Acute pancreatitis
Always present (100%)HP:0001735
Elevated total 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
Quick Facts
- SNOMED CT
- 275598004
- UMLS CUI
- C0023817
- Fully Specified Name
- Familial lipoprotein lipase deficiency (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.