The Family Health Disease Concept List


As part of an ongoing effort to develop a rich family health history tool for Intermountain’s patients, researchers at Intermountain’s Clinical Genetics Institute and Homer Warner Center for Informatics Research have collaborated to identify a set of diseases relevant in the context of a medical family history. The disease concepts were extracted from a number of resources, including data from Intermountain’s clinical systems, the Utah Department of Health, and the National Library of Medicine’s Genetic Home Reference. These concepts will be used to encode diseases in families as entered by patients. These records will become part of the patient medical record and optionally synchronized with personal health records like Microsoft HealthVault.

We are sharing the concept list with other organizations in an effort to build and refine the set moving forward. We anticipate that it will serve as a dynamic resource for institutions actively using family history to improve patient care. As new concepts, synonyms or code mappings are added in the future, they will be made available here. It is our hope that sharing the family health disease concept list will be helpful to other organizations building family history applications for clinical use.

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