Structural group-based auditing of missing hierarchical relationships in UMLS

The Metathesaurus of the UMLS was created by integrating various source terminologies. The inter-concept relationships were either integrated into the UMLS from the source terminologies or specially generated. Due to the extensive size and inherent complexity of the Metathesaurus, the accidental omission of some hierarchical relationships was inevitable. We present a recursive procedure which allows a human expert, with the support of an algorithm, to locate missing hierarchical relationships. The procedure starts with a group of concepts with exactly the same (correct) semantic type assignments. It then partitions the concepts, based on child-of hierarchical relationships, into smaller, singly rooted, hierarchically connected subgroups. The auditor only needs to focus on the subgroups with very few concepts and their concepts with semantic type reassignments. The procedure was evaluated by comparing it with a comprehensive manual audit and it exhibits a perfect error recall.