Pancreatic colipase deficiency

disorder

SNOMED 69478001CUI C0268241

Overview

Pancreatic colipase deficiency 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.

Decreased circulating cholesterol level

Always present (100%)HP:0003146

Chronic diarrhoea

Very frequent (80-99%)HP:0002028

Fat in feces

Very frequent (80-99%)HP:0002570

Fat malabsorption

Very frequent (80-99%)HP:0002630

Megaloblastic anemia

Very frequent (80-99%)HP:0001889

Pancreatic insufficiency

Very frequent (80-99%)HP:0001738

Gallstones

Occasional (5-29%)HP:0001081

Elevated sweat chloride

Excluded (<1%)HP:0012236

Related Conditions

Digestive system hereditary disorder(parent)

Enzymopathy(parent)

Pancreatic malabsorption(parent)

Inborn error of metabolism(parent)

Hereditary disorder of endocrine system(parent)

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

Quick Facts

SNOMED CT: 69478001
UMLS CUI: C0268241
Fully Specified Name: Pancreatic colipase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 8

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.