eMERGE Geisinger Group

Abdominal Aortic Aneurysm ( AAA )

The algorithm uses Structured Query Language to identify AAA cases, controls, and excludes from the Electronic Medical Record. AAA cases were defined as meeting at least one of three criteria: had a AAA repair procedure (Case Type 1), had at least one vascular clinic encounter with a diagnosis of ruptured AAA (Case Type 2), or had at least two vascular clinic encounters with a diagnosis of unruptured AAA (Case Type 3).

Owner Phenotyping Groups: 
Final

Chronic Kidney Disease

Chronic kidney disease (CKD) is defined as an abnormality of kidney structure or function present for longer than 3 months. CKD can occur as a result of heterogeneous disorders affecting the kidney. In the United States, an estimated 13.6% of adults have CKD. Notably, adjusted mortality rates are higher for patients with CKD than those without, and rates increase with CKD stage. The purpose of this algorithm is to enable accurate CKD diagnosis and staging based on EHR data.

Owner Phenotyping Groups: 
Final

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”.

Owner Phenotyping Groups: 
Final

PhEMA BPH (Benign Prostatic Hyperplasia) cases

This is PhEMA (Phenotype Execution Modeling Architecture, projectphema.org)'s implementation of the following BPH (Benign Prostatic Hyperplasia) case algorithm from the following BPH case and control algorithm on PheKB:

https://phekb.org/phenotype/benign-prostatic-hyperplasia-bph

Artifacts for this phenotype, inc. an HQMF representation, a KNIME workflow that can run against an i2b2 instance, and a snapshot of the PhAT graphical representation, are posted on GitHub:

Final