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Electronic Health Record-based Phenotyping Algorithm for Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is a relatively common Mendelian genetic disorder that is associated with elevated plasma low-density lipoprotein cholesterol (LDL-C) levels and dramatically increased lifetime risk for premature atherosclerotic cardiovascular disease (ASCVD). FH can be diagnosed based on clinical presentation and/or genetic testing results, with a positive genetic testing considered to be the “gold standard”.

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Hearing Loss

Phenotype Description:  individuals with sensorineural hearing loss (SNHL)
Below are algorithms used to identify individuals with SNHL at BioVU. If you have questions regarding any of the information presented on this page, you may contact either:
Wei-Qi Wei at wei-qi.wei@vanderbilt.edu or Joshua Denny at josh.denny@vanderbilt.edu

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Herpes Zoster

Herpes zoster, also known as zoster or shingles, is caused by a virus called varicella zoster virus (VZV). Initial infection with the virus causes chickenpox. After chickenpox resolves the virus continues to resides in certain nerve cells. It may remain latent for many years. It may also re-activate, many years later, and cause shingles which is a painful skin rash. How the virus remains latent in the body is not well understood.

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Identification of Fibromyalgia Patients in a Rheumatoid Arthritis Cohort

Fibromyalgia has been estimated to affect 12-17% of rheumatoid arthritis patients (1, 2). 

This algorithm was created to identify fibromyalgia patients in a population of rheumatoid arthritis patients. The gold standard used for diagnosis of fibromyalgia was that the treating rheumatologist made a clinical diagnosis of fibromyalgia. Rheumatoid arthritis patients were identified by using a previously validated algorithm (3). 

Algorithm included the following conditions: 

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Peanut Allergy

Food allergy is defined as an immune response that occurs reproducibly to a given food, typically an immunoglobulin E (IgE)-mediated clinical reaction to specific protein epitopes.  Over the last 20-30 years, food allergy has grown into a major public health problem.  Peanut allergy is a common type of food allergy that accounts for a disproportionate number of fatal and near-fatal anaphylactic events amongst all the common food allergens.

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