CHAPLE (complement hyperactivation, angiopathic thrombosis, protein losing enteropathy) syndrome

disorder

SNOMED 1279887007CUI C4538570

Overview

CHAPLE (complement hyperactivation, angiopathic thrombosis, protein losing enteropathy) 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.

Decreased serum immunoglobulin

Always present (100%)HP:0004313

Intestinal malabsorption

Always present (100%)HP:0002024

Hypoalbuminaemia

Very frequent (80-99%)HP:0003073

Low number of red blood cells or hemoglobin

Very frequent (80-99%)HP:0001903

Soft tissue swelling

Very frequent (80-99%)HP:0000969

Clubbing of fingers

Frequent (30-79%)HP:0100759

Diarrhea

Frequent (30-79%)HP:0002014

Growth failure

Frequent (30-79%)HP:0001510

Intestinal lymphangiectasia

Frequent (30-79%)HP:0002593

Recurrent chest infections

Frequent (30-79%)HP:0002783

Upset stomach

Frequent (30-79%)HP:0002027

Vomiting

Frequent (30-79%)HP:0002013

Arthralgias

Occasional (5-29%)HP:0002829

Budd-Chiari syndrome

Occasional (5-29%)HP:0002639

Hepatic venous thrombosis

Occasional (5-29%)HP:0030243

Hypothyroidism

Occasional (5-29%)HP:0000821

Increased platelet count

Occasional (5-29%)HP:0001894

Abnormality of the intestine

HP:0002242

Ascites

HP:0001541

Blood clot in artery of lung

HP:0002204

Bowel obstruction

HP:0005214

Digital clubbing

HP:0001217

Enlarged liver

HP:0002240

Generalised oedema

HP:0007430

Hypoproteinemia

HP:0003075

Iron-deficiency anaemia

HP:0001891

Predisposition to infections

HP:0002719

Related Conditions

Decay accelerating factor deficiency(parent)

Gastrointestinal complication(parent)

Digestive system hereditary disorder(parent)

Hereditary disorder of immune system(parent)

Protein-losing enteropathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1279887007
UMLS CUI: C4538570
Fully Specified Name: Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome (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.