PGS Sample Set (PSS): PSS001040

Phenotype Cases were individuals with systemic lupus erythematosus. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for lupus related disorders (systemic and cutaneous) include: 695.4, 695.41, 696.42.
Sample Ancestry European

Sample Numbers

Total number
18,698 individuals
Detailed numbers
393 cases (2.1%)
18,305 controls
Number of Cohort(s) 1
Sample distribution


Cohort Short Name Cohort Full Name Previous/other/additional names (e.g. sub-cohorts)
eMERGE Medical Records and Genomics study