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 CCHMC 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.
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.
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
Migraine is the most common recurrent headache syndrome in children in which 4-10% of school age children may be affected (1). It is characterized by episodes of headache pain that may be accompanied by nausea, vomiting, and light and sound sensitivity. Migraine occurs at all ages and may even begin in infancy as represented by intermittent colic (1). The genes for familial hemiplegic migraine have been identified.
Non-alcoholic fatty liver disease (NAFLD)
The KPWA/UW-led ovarian/uterine cancer phenotype has been validated at Mayo Clinic, the secondary phenotype development site. Validation results at both the primary and secondary sites were strong and the phenotype is ready for network wide implementation. The pseudo code document posted 11/30/2017 is correct as is and should be used by network sites for phenotype implementation. A validated data dictionary of covariates for this phenotype will be added to PheKB by 2/15/2018, but sites are encouraged to begin implementing the phenotype algorithm now.
Pain is a personal, multidimensional experience in which genetic biomarkers has a main role in determining pain sensitivity, perception and tolerance. Pain is a major concern for surgical patients and post-operative pain management still present a major challenge both in inpatient or outpatient settings. Apart from genetic factors, there are many other variables that may affect pain perception for example, pretreated patients may require less post-surgical medications, and they may recover more quickly.
Phenotyping algorithm for the identification of patients with type 1 or type 2 diabetes mellitus (DM) preoperatively using routinely available clinical data from electronic