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Coverage of rare disease names in cinical coding systems and ontologies and implications for electronic health records-based research.

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Richesson RL, Fung K, Bodenreider O
Proc 5th Int'l Conf Conference on Biomedical Ontology.
Abstract: 

This poster will present the completeness of coverage of rare disease names in standard coding systems, including the International Classification of Diseases (ICD) and SNOMED CT, and ontologies such as the Orphanet Rare Diseases Ontology (RDO). Using use cases and a set of 45 rare diseases for the national Patient Centered Outcomes Research Network (PCORnet), the poster will describe the current capacity and implications for electronic health records - based research on these diseases. Authors will provide suggestions on how clinical coding systems and ontologies can be used in a coordinated approach to support the use of electronic health record data  for various types of research related to rare diseases.

Richesson RL, Fung K, Bodenreider O. Coverage of rare disease names in cinical coding systems and ontologies and implications for electronic health records-based research. Proc 5th Int'l Conf Conference on Biomedical Ontology.