Huanying Gu

Representing the UMLS as an Object-oriented Database: Modeling Issues and Advantages

OBJECTIVE The Unified Medical Language System (UMLS) combines many well-established authoritative medical informatics terminologies in one knowledge representation system. Such a resource is very valuable to the health care community and industry. However, the UMLS is very large and complex and poses serious comprehension problems for users and maintenance personnel. The authors present a representation to support the users comprehension and navigation of the UMLS. DESIGN An object-oriented database (OODB) representation is used to represent the two major components of the UMLS-the Metathesaurus and the Semantic Network-as a unified system. The semantic types of the Semantic Network are modeled as semantic type classes. Intersection classes are defined to model concepts of multiple semantic types, which are removed from the semantic type classes. RESULTS The authors provide examples of how the intersection classes help expose omissions of concepts, highlight errors of semantic type classification, and uncover ambiguities of concepts in the UMLS. The resulting UMLS OODB schema is deeper and more refined than the Semantic Network, since intersection classes are introduced. The Metathesaurus is classified into more mutually exclusive, uniform sets of concepts. The schema improves the users comprehension and navigation of the Metathesaurus. CONCLUSIONS The UMLS OODB schema supports the users comprehension and navigation of the Metathesaurus. It also helps expose and resolve modeling problems in the UMLS.

Auditing concept categorizations in the UMLS

The Unified Medical Language System (UMLS) integrates about 880,000 concepts from 100 biomedical terminologies. Each concept is categorized to at least one semantic type of the Semantic Network. During the integration, it is unavoidable that some categorization errors and inconsistencies will be introduced. In this paper, we present an auditing technique to find such errors and inconsistencies. Our technique is based on an expert reviewing the pure intersections of meta-semantic types of a metaschema, a compact abstract view of the UMLS Semantic Network. We use a divide and conquer approach, handling differently small pure intersections and medium to large pure intersections. By using this approach, we limit the number of concepts reviewed, for which we expect a high percentage of errors. We reviewed all concepts in 657 pure intersections containing one to 10 concepts. Various kinds of errors are identified and the analysis of the results are presented in the paper. Also, we checked the pure intersections containing more than 10 concepts for their semantic soundness, where the semantically suspicious pure intersections are presented in the paper and their concepts are reviewed.

Partitioning the UMLS semantic network

The unified medical language system (UMLS) integrates many well-established biomedical terminologies. The UMLS semantic network (SN) can help orient users to the vast knowledge content of the UMLS metathesaurus (META) via its abstract conceptual view. However, the SN itself is large and complex and may still be difficult to comprehend. Our technique partitions the SN into smaller meaningful units amenable to display on limited-sized computer screens. The basis for the partitioning is the distribution of the relationships within the SN. Three rules are applied to transform the original partition into a second more cohesive partition.

A methodology for partitioning a vocabulary hierarchy into trees.

Controlled medical vocabularies are useful in application areas such as medical information systems and decision-support systems. However, such vocabularies are large and complex, and working with them can be daunting. It is important to provide a means for orienting vocabulary designers and users to the vocabularys contents. We describe a methodology for partitioning a vocabulary based on an IS-A hierarchy into small meaningful pieces. The methodology uses our disciplined modeling framework to refine the IS-A hierarchy according to prescribed rules in a process carried out by a user in conjunction with the computer. The partitioning of the hierarchy implies a partitioning of the vocabulary. We demonstrate the methodology with respect to a complex sample of the MED, an existing medical vocabulary.

Structural group auditing of a UMLS semantic type's extent

Each UMLS concept is assigned one or more of the semantic types (STs) from the Semantic Network. Due to the size and complexity of the UMLS, errors are unavoidable. We present two auditing methodologies for groups of semantically similar concepts. The straightforward procedure starts with the extent of an ST, which is the group of all concepts assigned this ST. We divide the extent into groups of concepts that have been assigned exactly the same set of STs. An algorithm finds subgroups of suspicious concepts. The human auditor is presented with these subgroups, which purportedly exhibit the same semantics, and thus she will notice different concepts with wrong or missing ST assignments. The dynamic procedure detects concepts which become suspicious in the course of the auditing process. Both procedures are applied to two semantic types. The results are compared with a comprehensive manual audit and show a very high error recall with a much higher precision.

Modeling a vocabulary in an object-oriented database

Controlled vocabularies have been used as the means for unifying disparate terminologies found within an application field. This unification leads to better administration of information and enhanced communication among various parties. Semantic networks have been shown to be excellent vehicles for modeling controlled vocabularies. However, they often lack the necessary access flexibility and robustness required by external agents such as intelligent information-locators and decision-support systems. In this paper, we describe the process of mapping an existing medical vocabulary based on a semantic network model into an Object-Oriented Database (OODB) system. We first consider two straightforward approaches to carrying out this task and describe their deficiencies. We then present a new approach which yields a very compact OODB schema for the representation of the vocabulary’s entire hierarchy and inter-connectivity. We refer to the resulting OODB as the Object-Oriented Healthcare Vocabulary Repository (OOHVR), which is currently up and running in the context of ONTOS, a commercially available OODB system.

A study of terminology auditors' performance for UMLS semantic type assignments

Auditing healthcare terminologies for errors requires human experts. In this paper, we present a study of the performance of auditors looking for errors in the semantic type assignments of complex UMLS concepts. In this study, concepts are considered complex whenever they are assigned combinations of semantic types. Past research has shown that complex concepts have a higher likelihood of errors. The results of this study indicate that individual auditors are not reliable when auditing such concepts and their performance is low, according to various metrics. These results confirm the outcomes of an earlier pilot study. They imply that to achieve an acceptable level of reliability and performance, when auditing such concepts of the UMLS, several auditors need to be assigned the same task. A mechanism is then needed to combine the possibly differing opinions of the different auditors into a final determination. In the current study, in contrast to our previous work, we used a majority mechanism for this purpose. For a sample of 232 complex UMLS concepts, the majority opinion was found reliable and its performance for accuracy, recall, precision and the F-measure was found statistically significantly higher than the average performance of individual auditors.

Identifying a forest hierarchy in an OODB specialization hierarchy satisfying disciplined modeling

The work is motivated by the desire to develop methods to comprehend large vocabularies and large schemas of object-oriented databases. The ability of a user of a database participating in a federated system to retrieve information from the other database systems will be greatly enhanced by acquiring a better comprehension of these systems. The authors are trying to develop both a theoretical paradigm and a methodology to analyze existing large schemas. Their approach to achieve comprehension is based on combining two concepts: informational thinning (i.e. concentration on the specialization hierarchy of the schema) and partitioning. They present a new technique for modeling which is called disciplined modeling. Based on the rules of disciplined modeling we develop a theoretical paradigm to support the existence of a meaningful forest hierarchy within the specialization hierarchy. Such a hierarchy functions as a skeleton of the schema and supports comprehension and partitioning efforts.

Overcoming an obstacle in expanding a UMLS semantic type extent

This paper strives to overcome a major problem encountered by a previous expansion methodology for discovering concepts highly likely to be missing a specific semantic type assignment in the UMLS. This methodology is the basis for an algorithm that presents the discovered concepts to a human auditor for review and possible correction. We analyzed the problem of the previous expansion methodology and discovered that it was due to an obstacle constituted by one or more concepts assigned the UMLS Semantic Network semantic type Classification. A new methodology was designed that bypasses such an obstacle without a combinatorial explosion in the number of concepts presented to the human auditor for review. The new expansion methodology with obstacle avoidance was tested with the semantic type Experimental Model of Disease and found over 500 concepts missed by the previous methodology that are in need of this semantic type assignment. Furthermore, other semantic types suffering from the same major problem were discovered, indicating that the methodology is of more general applicability. The algorithmic discovery of concepts that are likely missing a semantic type assignment is possible even in the face of obstacles, without an explosion in the number of processed concepts.

Evaluation and application of a semantic network partition

Semantic networks (SNs) are excellent knowledge representation structures. However, large semantic networks are difficult to comprehend. To overcome this difficulty, several methods of partitioning have been developed that rely on different mixes of structural and semantic methods. However, little has appeared in the literature concerning the question whether a partition of a semantic network creates subnetworks that agree with human insight. We address this issue by presenting a comparison between the results of an algorithmic partitioning method and a partition created by a group of experts. Subsequently, we show how a network partition can be used to generate various partial views of a semantic network, which facilitate user orientation. Examples from the Unified Medical Language System (UMLS) SN are used to demonstrate partial views.