Rheumatology Auto-Immune characteristics


To identify cases with auto-immune rheumatologic phenotye (for  NT198) we request information about auto-antibody (whether it was tested and what the restults were) and drug information (whether it was prescribed) for each patients that is enrolled in eMERGE. We are requesting every mention of any of the expanded generic drugs.

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RxNorm RxCUI codes for Cancer Therapies

This phenotype includes RxNorm RxCUI codes for cancer therapies. These codes map to drug records in the PCORnet Common Data Model and other data sources. The phenotype was developed in 2019. Please see the associated files for additional information. 

The development of this phenotype was supported by a Patient-Centered Outcomes Research Institute (PCORI) Award (No. CDRN-1306-04631) for the development of the national patient-centered clinical research network, known as PCORnet.

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Systemic lupus erythematosus (SLE)

We used Vanderbilt’s Synthetic Derivative (SD), a de-identified version of the EHR, with 2.5 million subjects. We selected all individuals with at least one SLE ICD-9 code (710.0) yielding 5959 individuals. To create a training set, 200 were randomly selected for chart review. A subject was defined as a case if diagnosed with SLE by a rheumatologist, nephrologist, or dermatologist.


Type 1 and type 2 Diabetes Mellitus

This document describes the Stanford University algorithm to extract individuals with diabetes and the type of diabetes from electronic health records (EHRs). There are two main tasks of this phenotype development: 1) to extract patients with diabetes (gestational diabetes is excluded), and 2) to discriminate between type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus (T2DM). Instead of identifying all diabetes cases, we aim to reduce the number of false positives in our diabetes cohort.


Type 2 Diabetes - PRS Evaluation


The following files were updated on 4/9/2021 so that the output of the #feature table in the eMERGE_IV_OMOP_T2DM_PRS_algorithm script matches the data dictionary.


  • T2DM_DD_Feature_Count_OMOP_2021049.csv
  • eMERGE_IV_OMOP_T2DM_PRS_algorithm_20210409.txt



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