Integrating Bio-ontologies and Controlled Clinical Terminologies: From Base Pairs to Bedside Phenotypes.
Electronic Health Records (EHR) are inherently complex and diverse and cannot be readily integrated and analyzed. Analogous to the Gene Ontology, controlled clinical terminologies were created to facilitate the standardization and integration of medical concepts and knowledge and enable their subsequent use for translational research, official statistics and medical billing. This chapter will introduce several of the main controlled clinical terminologies used to record diagnoses, surgical procedures, laboratory results and medications. The discovery of novel therapeutic agents and treatments for rare or common diseases increasingly requires the integration of genotypic and phenotypic knowledge across different biomedical data sources. Mechanisms that facilitate this linkage, such as the Human Phenotype Ontology, are also discussed.
Farr Institute of Health Informatics Research, University College London, London, UK. s.denaxas@ucl.ac.uk.|Institute of Health Informatics, University College London, 222 Euston Road, London, NW1 2DA, UK. s.denaxas@ucl.ac.uk.
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D020029:Base Pairing; D064229:Biological Ontologies; D055808:Drug Discovery; D057286:Electronic Health Records; D005838:Genotype; D006801:Humans; D016247:Information Storage and Retrieval / Q000379:methods; D020407:Internet; D010641:Phenotype; D057170:Translational Research, Biomedical; D018875:Vocabulary, Controlled
Clinical terminologies; Electronic health records; Phenotypes