Chylomicron retention disease

disorder

SNOMED 702364003CUI C0795956

Overview

By MedlinePlus, National Library of Medicine

Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Decreased circulating cholesterol level

Always present (100%)HP:0003146

Diarrhea

Always present (100%)HP:0002014

Elevated serum transaminases

Very frequent (80-99%)HP:0002910

Fat in feces

Very frequent (80-99%)HP:0002570

Fat malabsorption

Very frequent (80-99%)HP:0002630

Noninflammatory retina disease

Very frequent (80-99%)HP:0000488

Abnormality of vitamin metabolism

Frequent (30-79%)HP:0100508

Belly bloating

Frequent (30-79%)HP:0003270

Increased hepatocellular lipid droplets

Frequent (30-79%)HP:0006565

Undergrowth

Frequent (30-79%)HP:0001508

Vomiting

Frequent (30-79%)HP:0002013

EMG: myopathic changes

Occasional (5-29%)HP:0003458

Fatty liver

Occasional (5-29%)HP:0001397

Impaired vision

Occasional (5-29%)HP:0000505

Absent tendon reflexes

Very rare (1-4%)HP:0001284

Acanthocytosis

Very rare (1-4%)HP:0001927

Impaired proprioception

Very rare (1-4%)HP:0010831

Myopathy

Very rare (1-4%)HP:0003198

Accumulation of lipid droplets in small-bowel enterocytes

HP:0034787

Decreased LDL cholesterol concentration

HP:0003563

Decreased plasma Tg levels

HP:0012153

Dull intelligence

HP:0001249

Growth failure

HP:0001510

Hypoalbuminaemia

HP:0003073

Impaired vibratory sensation

HP:0002495

Malnutrition

HP:0004395

Reduced tendon reflexes

HP:0001315

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Intestinal malabsorption of fat(parent)

Digestive system hereditary disorder(parent)

Disorder of digestive system specific to fetus OR newborn(parent)

Familial hypobetalipoproteinemia(parent)

Quick Facts

SNOMED CT: 702364003
UMLS CUI: C0795956
Fully Specified Name: Chylomicron retention disease (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 27

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.