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).
Autoimmune Disease Phenotype
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
Body Mass Index (BMI)
eMERGE-IV BMI Algorithm adapted from Geisinger Extreme Obesity Algorithm (2013). BMI is being implemented as a quantitative trait. PheKB maintains a catalog of the Geisinger Extreme Obesity algorithm, on which this is based (Phenotpe 121). This algorithm is for analysis. Sites only contributing covariates can simply compile the designated data.
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.
CAAD (Carotid Artery Atherosclerosis Disease)
Carotid artert atherosclerosis disease (CAAD) is measured in cases and controls by both structured data, including ICD diagnosis codes, and quantitative measurements of carotid stenosis based on doppler and other imaging technologies.
The phenotype algorithm includes typical eMERGE pseudo code for implementing the structured data components of the algorithm, as well as a portable natural language processing (NLP) system used to extract percent stenosis measurements from imaging reports.
Cardiorespiratory Fitness Algorithm (eMERGE Mayo Network Phenotype)
Please refer to attached documents.
Chronic Kidney 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.