CPT Codes

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

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

Atopic Dermatitis Algorithm

Owner Phenotyping Groups:

eMERGE CHOP Group

View Phenotyping Groups:

eMERGE Phenotype WG

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?

Owner Phenotyping Groups:

Vanderbilt - SD/RD Group

View Phenotyping Groups:

Vanderbilt - SD/RD Group

Final

Body Mass Index (BMI)

eMERGE-IV BMI Algorithm adapted from Geisinger Extreme Obesity Algorithm (2013). BMI is being implemented as a quantitative trait. PheKB maintains a catalog of the Geisinger Extreme Obesity algorithm, on which this is based (Phenotpe 121). This algorithm is for analysis. Sites only contributing covariates can simply compile the designated data.

Owner Phenotyping Groups:

eMERGE CHOP Group

Final

bone scan utilization

Objective
Clinical care guidelines recommend that newly diagnosed prostate cancer patients at high risk for metastatic spread receive a bone scan prior to treatment and that low risk patients not receive it. The objective was to develop an automated pipeline to interrogate heterogeneous data to evaluate the use of bone scans using a two different Natural Language Processing (NLP) approaches.

Final

Breast Cancer

Breast cancer is the most common cancer and the second leading cause of cancer-related death among women in the U.S. Known breast cancer risk factors include age, race/ethnicity, reproductive factors, and benign breast disease. Family history of breast cancer and hereditary cancer syndromes, such as BRCA1/BRCA2 mutations, confer the strongest risk for this disease.

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