Adult

Depression

Depression accounts for substantial morbidity and mortality worldwide and risk of experiencing it may have a genetic component.  Depressive disorders manifest along a gradient from mild to severe.[1]  Electronic health record (EHR) data linked to large, multi-site biobanks[2] facilitate exploration of the genetic component of depression.

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Digital Rectal Exam

Described in this document are the Stanford University algorithms for extracting both cases and controls of digital rectal examination (DRE) from electronic health records (EHR) of prostate cancer patients. DRE is a clinical procedure, part of a set of quality metrics used to determine quality care for these patients. In this regard, DRE is defined as quality care when it is performed within a time period of up to six months before first treatment for prostate cancer. For the purposes of this algorithm a case is defined as DRE documented, whereas a control is DRE not documented.

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Diverticular Disease Severity, Colonic

This algorithm builds off prior phenotyping work from Pacheco & Thompson available in the PheKB phenotype "Diverticulosis and Diverticulitis" as well as the manuscripts from Joo et al (2023)(1) and De Roo et al (2023) (2) . The objective is to approximate diverticular disease severity from the electronic medical record into groups of asymptomatic diverticulosis, mild diverticulitis, and severe diverticulitis.

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Diverticulosis and Diverticulitis

An algorithm for finding patients with diverticulosis, and of those, patients who also have diverticulitis, and to also find control patients.  Control patients will have had a colonoscopy but have no evidence of diverticula.

Simple NLP (a portable program is posted here, with instructions, and support is availabe from NU as needed) of colonoscopy reports is the gold standard algorithm, but if the text of colonoscopy reports is not available, an alternate algorithm using CPT & ICD-9 codes can be used, which is also posted.

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Drug Induced Liver Injury

An algorithm to identify inpatients who have had an acute episode of drug induced liver injury (DILI).

Summary of drug-induced liver injury algorithm

Inclusion criteria

A. Suspect DILI? (NOTE: baseline population is institution specific.  See institution implementation details)

1.     Liver injury AND Exposure to drug (NOTE: medications are institution specific. See institution implementation details)

2.     Temporal relationship of exposure to drug and liver injury diagnosis.

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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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