Abstract

BackgroundWhile enrichment of terminologies can be achieved in different ways, filling gaps in the IS-A hierarchy backbone of a terminology appears especially promising. To avoid difficult manual inspection, we started a research program in 2014, investigating terminology densities, where the comparison of terminologies leads to the algorithmic discovery of potentially missing concepts in a target terminology. While candidate concepts have to be approved for import by an expert, the human effort is greatly reduced by algorithmic generation of candidates. In previous studies, a single source terminology was used with one target terminology.MethodsIn this paper, we are extending the algorithmic detection of “candidate concepts for import” from one source terminology to two source terminologies used in tandem. We show that the combination of two source terminologies relative to one target terminology leads to the discovery of candidate concepts for import that could not be found with the same “reliability” when comparing one source terminology alone to the target terminology. We investigate which triples of UMLS terminologies can be gainfully used for the described purpose and how many candidate concepts can be found for each individual triple of terminologies.ResultsThe analysis revealed a specific configuration of concepts, overlapping two source and one target terminology, for which we coined the name “fire ladder” pattern. The three terminologies in this pattern are tied together by a kind of “transitivity.” We provide a quantitative analysis of the discovered fire ladder patterns and we report on the inter-rater agreement concerning the decision of importing candidate concepts from source terminologies into the target terminology. We algorithmically identified 55 instances of the fire ladder pattern and two domain experts agreed on import for 39 instances. In total, 48 concepts were approved by at least one expert. In addition, 105 import candidate concepts from a single source terminology into the target terminology were also detected, as a “beneficial side-effect” of this method, increasing the cardinality of the result.ConclusionWe showed that pairs of biomedical source terminologies can be transitively chained to suggest possible imports of concepts into a target terminology.

Highlights

  • While enrichment of terminologies can be achieved in different ways, filling gaps in the IS-A hierarchy backbone of a terminology appears especially promising

  • For Data Set 1, we identified 55 distinct B2 concepts that were reviewed by the experts for import into terminology A

  • There were 18 instances formed by permutations of {SNOMED CT, MEDCIN, Current Procedural Terminology (CPT)} and another 17 instances by permutations of {SNOMED CT, National Cancer Institute Thesaurus (NCIt), MEDCIN} accounting for more than half of the candidate concepts

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Summary

Introduction

While enrichment of terminologies can be achieved in different ways, filling gaps in the IS-A hierarchy backbone of a terminology appears especially promising. The Metathesaurus of the Unified Medical Language System (UMLS) [1] is a large biomedical thesaurus of concepts from 211 source terminologies (2019 AB release) in 25 different languages. It is organized by linking all names for the same concept under a Concept Unique Identifier. The Metathesaurus identifies the different relationships between the concepts and preserves the concept names, concept IDs and the relationships between the concepts in each source terminology. The SNOMED CT [4] provides the core general terminology for Electronic Health Records (EHRs) by organizing concepts into hierarchies (Body structure, Clinical finding, Specimen, etc.) and has over 350,000 unique, active concepts. There is substantial overlap in the conceptual content between the SNOMED CT and several other terminologies

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