Disease or Syndrome

Peanut Allergy

Food allergy is defined as an immune response that occurs reproducibly to a given food, typically an immunoglobulin E (IgE)-mediated clinical reaction to specific protein epitopes.  Over the last 20-30 years, food allergy has grown into a major public health problem.  Peanut allergy is a common type of food allergy that accounts for a disproportionate number of fatal and near-fatal anaphylactic events amongst all the common food allergens.

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Peripheral Arterial Disease - 2012

Peripheral Arterial Disease (PAD) is prevalent with approximately 10-12 million adults in US affected. For those with PAD, morbidity and mortality are high and quality of life is markedly impaired. The genetic basis of PAD is poorly understood and is the focus of the Mayo Clinic Electronic Medical Records and Genomics (eMERGE) Network study.

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PhEMA BPH (Benign Prostatic Hyperplasia) cases

This is PhEMA (Phenotype Execution Modeling Architecture, projectphema.org)'s implementation of the following BPH (Benign Prostatic Hyperplasia) case algorithm from the following BPH case and control algorithm on PheKB:

https://phekb.org/phenotype/benign-prostatic-hyperplasia-bph

Artifacts for this phenotype, inc. an HQMF representation, a KNIME workflow that can run against an i2b2 instance, and a snapshot of the PhAT graphical representation, are posted on GitHub:

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SLE (Systemic Lupus Erythematosus) using SLICC (Systemic Lupus Internation Collaborating Clinics) Criteria

Systemic Lupus Erythematosus (SLE) is a chronic, systemic autoimmune disease that can affect many parts of the body including skin, lungs, brain, heart, kidneys, joints, and blood vessels. SLE presentation can vary significantly between patients. Because of this, it can be challenging to identify a patient as having SLE. Between 300,000 and 2,000,000 people in the US are estimated to have SLE. Determination of an exact number of people affected is challenging as the disease is difficult to identify given the diverse presentations and the length of time it may take for symptoms to appear.

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Sleep Apnea Phenotype

  • The computable phenotype for the Sleep Apnea Patient Centered Outcomes Network uses existing and well established ICD codes for different types of sleep apnea including 327.23 (adult and pediatric obstructive sleep apnea), 780.51 (insomnia with sleep apnea), 780.53 (hypersomnia with sleep apnea), and 780.57 (unspecified sleep apnea).
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