Term sets: A transparent and reproducible representation of clinical code sets

OBJECTIVE: Clinical code sets are vital to research using routinely-collected electronic healthcare data. Existing code set engineering methods pose significant limitations when considering reproducible research. To improve the transparency and reusability of research, these code sets must abide by FAIR principles; this is not currently happening. We propose ‘term sets’, an equivalent alternative to code sets that are findable, accessible, interoperable and reusable. MATERIALS AND METHODS: We describe a new code set representation, consisting of natural language inclusion and exclusion terms (term sets), and explain its relationship to code sets. We formally prove that any code set has a corresponding term set. We demonstrate utility by searching for recently published code sets, representing them as term sets, and reporting on the number of inclusion and exclusion terms compared with the size of the code set. RESULTS: Thirty-one code sets from 20 papers covering diverse disease domains were converted into term sets. The term sets were on average 74% the size of their equivalent original code set. Four term sets were larger due to deficiencies in the original code sets. DISCUSSION: Term sets can concisely represent any code set. This may reduce barriers for examining and reusing code sets, which may accelerate research using healthcare databases. We have developed open-source software that supports researchers using term sets. CONCLUSION: Term sets are independent of clinical code terminologies and therefore: enable reproducible research; are resistant to terminology changes; and are less error-prone as they are shorter than the equivalent code set.