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.
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.
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...
We used a multi-modal strategy consisting of structured database querying, natural language processing on free-text documents, and optical character recognition on scanned clinical images to identify cataract subjects and related cataract attributes.
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.
Clostridium difficile, also known as "C. diff," is a species of bacteria that causes severe diarrhea and other intestinal disease when competing bacteria in the gut have been wiped out by antibiotics (see Wikipedia entry). In rare cases a C. diff infection can progress to toxic megacolon which can be life-threatening. In a very small percentage of the adult population C. difficile bacteria naturally reside in the gut. Other people accidentally ingest spores of the bacteria while patients in a hospital or nursing home.
Validation:
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.
Crohn's Disease phenotype algorithm for the DNA DataBank Demonstration Project. Case records are required to have more than 2 occurrences of ICD 9 codes and medications. Control records are required to not have ICD 9 codes or keyword mention of crohn* or Regional enteritis and excludes additional phenotypes as defined by ICD 9 codes and keywords.
Data source summary:
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Diagnostic Codes? |
Please see the PubMed reference below for background information about this phenotype & algorithm (a copy also attached).
Selects patients with presumptive Alzheimer's disease. The algorithm is looking for records with a minimum of 5 visits with the Diagnosis of interest, using ICD 9 codes OR a dementia drug fill.This algorithm was validated against a curated research cohort.