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: 
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
eMERGE Columbia Group
eMERGE Geisinger Group
eMERGE GHC/University of Washington Group
eMERGE Harvard Group
eMERGE Marshfield Group
eMERGE Mayo Group
eMERGE Meharry Group
eMERGE Mount Sinai Group
eMERGE Northwestern Group
eMERGE Phenotype WG
eMERGE Vanderbilt Group
Farr Institute Kidney Working Group
GPC
NIH Collaboratory Group
PCORI CDRN/PPRN
PCORI MidSouth CDRN
PCORI MidSouth CDRN/Duke Group
PCORI MidSouth CDRN/Greenway Group
PCORI MidSouth CDRN/HSSC Group
PCORI MidSouth CDRN/Meharry Group
PCORI MidSouth CDRN/UNC Group
PCORI MidSouth CDRN/VUMC Group
PGPop WG
PGx model group
PGx Workgroup
PheMA Test Group
Precision Medicine and Health Disparities Collaborative
Resistant hypertension WG
Vanderbilt - Music Cognition Lab
Vanderbilt - SD/RD Group
VESPA - Vanderbilt Electronic Systems for Pharmacogenomic Assessment
Final

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.

 

Owner Phenotyping Groups: 
VESPA - Vanderbilt Electronic Systems for Pharmacogenomic Assessment
View Phenotyping Groups: 
Denny’s Group at Vandy
VESPA - Vanderbilt Electronic Systems for Pharmacogenomic Assessment
Final

Colorectal Cancer (CRC)

A pheontype defining patients with strong evidence of having been diagnosed with colorectal cancer (cases) and patients who clearly do not have such diagnoses (controls).  This phenotype is being used for sequencing studies. The only NLP involved in this phenotype is a very simple string search applied to pathology reports.

Owner Phenotyping Groups: 
eMERGE GHC/University of Washington Group
View Phenotyping Groups: 
Clostridium Difficile Colitis Phenotype Group
Denny’s Group at Vandy
eMERGE CCHMC/BCH Group
eMERGE CHOP Group
eMERGE Columbia Group
eMERGE Geisinger Group
eMERGE GHC/University of Washington Group
eMERGE Harvard Group
eMERGE Marshfield Group
eMERGE Mayo Group
eMERGE Mount Sinai Group
eMERGE Northwestern Group
eMERGE Phenotype WG
eMERGE Vanderbilt Group
GPC
NIH Collaboratory Group
PCORI CDRN/PPRN
PCORI MidSouth CDRN
PGPop WG
PGx model group
PGx Workgroup
PheMA Test Group
Resistant hypertension WG
Vanderbilt - SD/RD Group
VESPA - Vanderbilt Electronic Systems for Pharmacogenomic Assessment
Final

Computable Phenotypes for Identifying Patients with Lung and Gastroenteropancreatic Neuroendocrine Tumors in PCORnet

This phenotype specification supports the identification of patients with lung and gastroenteropancreatic (GEP) neuroendocrine tumors (NETs) for the Neuroendocrine Tumors- Patient-Reported Outcomes Study (NET-PRO) - a multi-site, patient-centered outcomes research initiative (PCORI) funded study (RD-2020C2-20329) conducted within PCORnet.

Owner Phenotyping Groups: 
PCORI CDRN/PPRN
The University of Iowa
View Phenotyping Groups: 
PCORI CDRN/PPRN
The University of Iowa
Final

Coronary Heart Disease (CHD)

Algorithm for coronary heart disease (aka coronary artery disease) based on research done by the eMERGE Network. Cases are ascertained by either two ocurrences of diagnostic codes or one ocurrence of a procedural code. Defined as individuals with no diagnostic or procedural codes recorded. All ICD-9 and ICD-10 codes are labeled as diagnostic or procedural in the attached excel file.

Owner Phenotyping Groups: 
eMERGE Mayo Group
eMERGE Phenotype WG
PRIMED Consortium
View Phenotyping Groups: 
eMERGE CCHMC Group
eMERGE CCHMC/BCH Group
eMERGE CHOP Group
eMERGE Columbia Group
eMERGE COVID Subgroup
eMERGE Geisinger Group
eMERGE GHC/University of Washington Group
eMERGE Harvard Group
eMERGE IV Phenotyping Group
eMERGE Marshfield Group
eMERGE Mayo Group
eMERGE Meharry Group
eMERGE Mount Sinai Group
eMERGE Northwestern Group
eMERGE Phenotype WG
eMERGE Vanderbilt Group
PRIMED Consortium
Final

Crohn's Disease - Demonstration Project

Crohn's Disease phenotype algorithm for the DNA DataBank Demonstration Project.  Case records are required to have more than 2 occurrences of ICD 9 codes and medications.  Control records are required to not have ICD 9 codes or keyword mention of crohn* or Regional enteritis and excludes additional phenotypes as defined by ICD 9 codes and keywords.

Data source summary:

 

Diagnostic Codes?

Owner Phenotyping Groups: 
Vanderbilt - SD/RD Group
View Phenotyping Groups: 
Vanderbilt - SD/RD Group
Final

Depression

Depression accounts for substantial morbidity and mortality worldwide and risk of experiencing it may have a genetic component.  Depressive disorders manifest along a gradient from mild to severe.[1]  Electronic health record (EHR) data linked to large, multi-site biobanks[2] facilitate exploration of the genetic component of depression.

Owner Phenotyping Groups: 
eMERGE GHC/University of Washington Group
View Phenotyping Groups: 
eMERGE Phenotype WG
Final

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