Final

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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Final

Atrial Fibrillation - Demonstration Project

Atrial Fibrillation phenotype algorithm for the DNA Demonstration project.  The algorithm selects cases based on atrial fibrillation but no presence of a heart transplant.  Controls select for records with no evidence of atrial flutter, atrial fibrillation, or atrial tachycardia but with at least one ECG.

 

 

Diagnostic Codes?

Text Keywords?

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Final

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