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
eMERGE Northwestern Group
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.
This algorithm is for community associated MRSA (Methicillin-resistant Staphylococcus aureus, read more at http://en.wikipedia.org/wiki/MRSA). Note this algorithm will use lab results and not ICD-9 codes, as ICD-9 codes are not specific enough for this algorithm and/or are not used consistently for this phenotype. Thus, we expect the actual number of cases to be higher than what the eMERGE RC (Record Counter) estimated, and, as we will be studying patients aged 0 to 89, we would like for all sites to participate, please...
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.
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.
Please see the PubMed reference below for background information about this phenotype & algorithm (a copy also attached).
Phenotype Description: individuals with sensorineural hearing loss (SNHL)
Below are algorithms used to identify individuals with SNHL at BioVU. If you have questions regarding any of the information presented on this page, you may contact either:
Wei-Qi Wei at firstname.lastname@example.org or Joshua Denny at email@example.com
Algorithm to select patients with height measures unaffected by environmental factors (i.e. diseases & medications) that can cause an abnormal change in height. Comprehensive documentation of the algorithm can be found here on this PheKB page. Similar to our T2DM algorithm, you can install an executable version of the algorithm implemented as workflows for the Konstanz Information Miner (KNIME) data mining tool.
Non-alcoholic fatty liver disease (NAFLD)