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hereditary hemorrhagic telangiectasia

Medical Definition

An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. this disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds transforming growth factor beta.

Wikipedia Summary

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain. It may lead to nosebleeds, acute and chronic digestive tract bleeding, and various problems due to the involvement of other organs. Treatment focuses on reducing bleeding from telangiectasias, and sometimes surgery or other targeted interventions to remove arteriovenous malformations in organs...
Related Codes (1)
Code
Description
Billable
Details
I78.0Hereditary hemorrhagic telangiectasia

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