Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia

disorder

SNOMED 1149069001CUI C1832942

Overview

Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia 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.

Cavernous haemangioma

Always present (100%)HP:0001048

Cerebral hemorrhage

Always present (100%)HP:0001342

Cyanotic episode

Always present (100%)HP:0200048

Epilepsy

Always present (100%)HP:0001250

Juvenile colonic polyposis

Always present (100%)HP:0012198

Juvenile GI polyposis

Always present (100%)HP:0004784

Pancytopenia

Always present (100%)HP:0001876

Decreased haemoglobin

Very frequent (80-99%)HP:0001903

Digital clubbing

Frequent (30-79%)HP:0001217

Frequent nosebleeds

Frequent (30-79%)HP:0000421

Hepatic arteriovenous malformation

Frequent (30-79%)HP:0006574

Pulmonary AV malformation

Frequent (30-79%)HP:0006548

Spider veins

Frequent (30-79%)HP:0001009

Cerebral vascular events

Occasional (5-29%)HP:0001297

Related Conditions

Osler hemorrhagic telangiectasia syndrome(parent)

Juvenile polyposis syndrome(parent)

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

Quick Facts

SNOMED CT: 1149069001
UMLS CUI: C1832942
Fully Specified Name: Juvenile polyposis syndrome with hereditary hemorrhagic telangiectasia (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.