Female

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).

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Final

ACE Inhibitor (ACE-I) induced cough

ACE-I induced cough is a common side effect of use of ACE inhibitors, one of the most common class of antihypertensives.  The frequency of ACEI-induced cough varies based on ancestry.  A GWAS of ACEI cough using this algorithm in the eMERGE Network identified KCNIP4 as associated with this phenotype, which was validated in two replication cohorts. 

Cases are those with ACEI cough.  Controls are those exposed to ACEI without adverse events noted and not switched to angiotensin receptor blockers (ARBs).  

Algorithm validated - December 12, 2012.

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Final

Appendicitis

Appendicitis is one of the most common acquired surgical conditions of childhood.  Diagnosis of appendicitis remains difficult.  Much work has been done on validation of clinical scores to reduce the number of unnecessary surgeries and radiographic tests while maintaining a high sensitivity for disease.  However, no score performs well enough in practice to reduce these risks (Kulik et al., 2013).  It is also known that appendicitis has a familial predominance, but little is known about the genetic factors that may increase a certain child's risk for the condition (Oldmeadow et al., 2009). 

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Clopidogrel Poor Metabolizers

Note: Attached documents contain full case definition and two different control definitions.  One is for controls with 2 years of follow up, the other for controls with 1 year of follow up.  All available controls with 2 years of follow up were used in Vanderbilt's study.  The control population was supplemented by controls with only 1 year of follow up.  At the time of study, many of the available controls had experienced their qualifying events somewhat recently and 2 years had not yet passed for full follow up.

 

Final

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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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”.

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Final

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