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).

Owner Phenotyping Groups:

eMERGE Geisinger Group

View Phenotyping Groups:

eMERGE Geisinger Group

eMERGE Phenotype WG

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.

Owner Phenotyping Groups:

eMERGE Vanderbilt Group

View Phenotyping Groups:

eMERGE Phenotype WG

Final

Acute kidney injury (AKI)

Owner Phenotyping Groups:

eMERGE Columbia Group

Final

ADHD phenotype algorithm

Owner Phenotyping Groups:

eMERGE CHOP Group

View Phenotyping Groups:

eMERGE Phenotype WG

Final

Anxiety algorithm

Owner Phenotyping Groups:

eMERGE CHOP Group

View Phenotyping Groups:

eMERGE CHOP Group

eMERGE Phenotype WG

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).

Owner Phenotyping Groups:

eMERGE CCHMC/BCH Group

View Phenotyping Groups:

eMERGE Phenotype WG

Final

Asthma

Owner Phenotyping Groups:

eMERGE CHOP Group

View Phenotyping Groups:

eMERGE Phenotype WG

Final

Atopic Dermatitis Algorithm

Owner Phenotyping Groups:

eMERGE CHOP Group

View Phenotyping Groups:

eMERGE Phenotype WG

Final

Autism

Owner Phenotyping Groups:

eMERGE CCHMC/BCH Group

View Phenotyping Groups:

eMERGE Phenotype WG

Final

Autoimmune Disease Phenotype

Autoimmune diseases (AID) refer to destructive conditions involving an aberrant chronic activation of the adaptive immune system, where the immune cells instead of producing antibodies to attack foreign invaders, mistakenly attack the body’s own healthy cells. While autoimmune diseases are heterogeneous according to symptoms, lesion types, and prognosis, and are usually studied in isolation according to groups based on organ system; various autoimmunity diseases share similar immune effector mechanisms. Recent genetic studies suggest that many autoimmune and chronic autoinflammatory condi

Owner Phenotyping Groups:

eMERGE Columbia Group

View Phenotyping Groups:

001

American-Swiss Allergy Phenotyping Group

BioVU Phenotyping

Clostridium Difficile Colitis Phenotype Group

Data Science to Patient Value Initiative (D2V) - Colorado

Denny’s Group at Vandy

eMERGE CCHMC Group

eMERGE CCHMC/BCH Group

eMERGE CHOP Group