Appendicitis is one of the most common acquired surgical conditions of childhood. Diagnosis of appendicitis remains difficult. Much work has been done on validation of clinical scores to reduce the number of unnecessary surgeries and radiographic tests while maintaining a high sensitivity for disease. However, no score performs well enough in practice to reduce these risks (Kulik et al., 2013). It is also known that appendicitis has a familial predominance, but little is known about the genetic factors that may increase a certain child's risk for the condition (Oldmeadow et al., 2009).
eMERGE CCHMC/BCH Group
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
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.
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.
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 email@example.com or Joshua Denny at firstname.lastname@example.org
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.