Overview
Familial chylomicronemia syndrome 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.
Hyperlipidemia
Always present (100%)HP:0003077
Increased chylomicrons
Always present (100%)HP:0012238
Increased triglycerides
Always present (100%)HP:0002155
Acute pancreatitis
Very frequent (80-99%)HP:0001735
Episodic abdominal pain
Very frequent (80-99%)HP:0002574
Hepatosplenomegaly
Very frequent (80-99%)HP:0001433
Lipemia retinalis
Very frequent (80-99%)HP:0000660
Recurring pancreatitis
Very frequent (80-99%)HP:0100027
Eruptive xanthomas
Frequent (30-79%)HP:0001013
Fatty liver
Frequent (30-79%)HP:0001397
Decreased body weight
Occasional (5-29%)HP:0004325
Nausea and vomiting
Occasional (5-29%)HP:0002017
Poor weight gain
Occasional (5-29%)HP:0001508
Abnormal emotion processing
Very rare (1-4%)HP:0100851
Blood clot in artery of lung
Very rare (1-4%)HP:0002204
Depression
Very rare (1-4%)HP:0000716
Diabetes mellitus
Very rare (1-4%)HP:0000819
Memory impairment
Very rare (1-4%)HP:0002354
Perianal abscess
Very rare (1-4%)HP:0009789
Progressive dementia
Very rare (1-4%)HP:0000726
Yellowing of the skin
Very rare (1-4%)HP:0000952
Quick Facts
- SNOMED CT
- 1197489003
- UMLS CUI
- C5442313
- Fully Specified Name
- Familial chylomicronemia syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 21
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.