Quantifying the Impact and Extent of Undocumented Biomedical Synonymy

Synonymous relationships among biomedical terms are extensively annotated within specialized terminologies, implying that synonymy is important for practical computational applications within this field. It remains unclear, however, whether text mining actually benefits from documented synonymy and whether existing biomedical thesauri provide adequate coverage of these linguistic relationships. In this study, we examine the impact and extent of undocumented synonymy within a very large compendium of biomedical thesauri. First, we demonstrate that missing synonymy has a significant negative impact on named entity normalization, an important problem within the field of biomedical text mining. To estimate the amount synonymy currently missing from thesauri, we develop a probabilistic model for the construction of synonym terminologies that is capable of handling a wide range of potential biases, and we evaluate its performance using the broader domain of near-synonymy among general English words. Our model predicts that over 90% of these relationships are currently undocumented, a result that we support experimentally through “crowd-sourcing.” Finally, we apply our model to biomedical terminologies and predict that they are missing the vast majority (>90%) of the synonymous relationships they intend to document. Overall, our results expose the dramatic incompleteness of current biomedical thesauri and suggest the need for “next-generation,” high-coverage lexical terminologies.Author Summary: Automated systems that extract and integrate information from the research literature have become common in biomedicine. As the same meaning can be expressed in many distinct but synonymous ways, access to comprehensive thesauri may enable such systems to maximize their performance. Here, we establish the importance of synonymy for a specific text-mining task (named-entity normalization), and we suggest that current thesauri may be woefully inadequate in their documentation of this linguistic phenomenon. To test this claim, we develop a model for estimating the amount of missing synonymy. We apply our model to both biomedical terminologies and general-English thesauri, predicting massive amounts of missing synonymy for both lexicons. Furthermore, we verify some of our predictions for the latter domain through “crowd-sourcing.” Overall, our work highlights the dramatic incompleteness of current biomedical thesauri, and to mitigate this issue, we propose the creation of “living” terminologies, which would automatically harvest undocumented synonymy and help smart machines enrich biomedicine.