You are here
Coverage of phenotypes in standard terminologies.
Objective: To assess the coverage of the Human Phenotype Ontology (HPO) phenotypes in standard terminologies. Methods: We map HPO terms to the UMLS and its source terminologies and compare these lexical mappings to HPO cross-references. Results: Coverage of HPO classes in UMLS is 54% and 30% in SNOMED CT. Lexical mappings largely outnumber cross-references. Conclusions: Our approach can support the development of cross-references to standard terminologies in HPO.