Using structural and semantic methodologies to enhance biomedical terminologies

Biomedical terminologies and ontologies underlie various Health Information Systems (HISs), Electronic Health Record (EHR) Systems, Health Information Exchanges (HIEs) and health administrative systems. Moreover, the proliferation of interdisciplinary research efforts in the biomedical field is fueling the need to overcome terminological barriers when integrating knowledge from different fields into a unified research project. Therefore well-developed and well-maintained terminologies are in high demand. Most of the biomedical terminologies are large and complex, which makes it impossible for human experts to manually detect and correct all errors and inconsistencies. Automated and semi-automated Quality Assurance methodologies that focus on areas that are more likely to contain errors and inconsistencies are therefore important. In this dissertation, structural and semantic methodologies are used to enhance biomedical terminologies. The dissertation work is divided into three major parts. The first part consists of structural auditing techniques for the Semantic Network of the Unified Medical Language System (UMLS), which serves as a vocabulary knowledge base for biomedical research in various applications. Research techniques are presented on how to automatically identify and prevent erroneous semantic type assignments to concepts. The Web-based adviseEditor system is introduced to help UMLS editors to make correct multiple semantic type assignments to concepts. It is made available to the National Library of Medicine for future use in maintaining the UMLS. The second part of this dissertation is on how to enhance the conceptual content of SNOMED CT by methods of semantic harmonization. By 2015, SNOMED will become the standard terminology for EH R encoding of diagnoses and problem lists. In order to enrich the semantics and coverage of SNOMED CT for clinical and research applications, the problem of semantic harmonization between SNOMED CT and six reference terminologies is approached by 1) comparing the vertical density of SNOM ED CT with the reference terminologies to find potential concepts for export and import; and 2) categorizing the relationships between structurally congruent concepts from pairs of terminologies, with SNOMED CT being one terminology in the pair. Six kinds of configurations are observed, e.g., alternative classifications, and suggested synonyms. For each configuration, a corresponding solution is presented for enhancing one or both of the terminologies. The third part applies Quality Assurance techniques based on “Abstraction Networks” to biomedical ontologies in BioPortal. The National Center for Biomedical Ontology provides B ioPortal as a repository of over 350 biomedical ontologies covering a wide range of domains. It is extremely difficult to design a new Quality Assurance methodology for each ontology in BioPortal. Fortunately, groups of ontologies in BioPortal share common structural features. Thus, they can be grouped into families based on combinations of these features. A uniform Quality Assurance methodology design for each family will achieve improved efficiency, which is critical with the limited Quality Assurance resources available to most ontology curators. In this dissertation, a family-based framework covering 186 BioPortal ontologies and accompanying Quality Assurance methods based on abstraction networks are presented to tackle this problem

Enriching and designing metaschemas for the UMLS semantic network

The disparate terminologies used by various biomedical applications or professionals make the communication between them more difficult. The Unified Medical Language System (UMLS) of the National Library of Medicine (NLM) is an attempt to integrate different medical terminologies into a unified representation framework to improve decision making and the quality of patient care as well as research in the health-care field. Metathesaurus (META) and Semantic Network (SN) are two main components of the UMLS system, where the SN provides a high-level abstract of the concepts in the META. This dissertation addresses three problems of the SN. First, the SN\u27s two-tree structure is restrictive because it does not allow a semantic type to be a specialization of several other semantic types. This restriction leads to the omission of some subsumption knowledge in the SN. Secondly, the SN is large and complex for comprehension purposes and it does not come with a pictorial representation for users. As a partial solution for this problem, several metaschemas were previously built as higher-level abstractions for the SN to help users\u27 orientation. Third, there is no efficient method to evaluate each metaschema. There is no technique to obtain a consolidated metaschema acceptable for a majority of the UMLS\u27s users. In this dissertation work the author attacked the described problems by using the following approaches. (1) The SN was expanded into the Enriched Semantic Network (ESN), a multiple subsumption structure with a directed acyclic graph (DAG) IS-A hierarchy, allowing a semantic type to have multiple parents. New viable IS-A links were added as warranted. Two methodologies were presented to identify and add new viable IS-A links. The ESN serves as an extended high-level abstract of the META. (2) The ESN\u27s semantic relationship distribution and concept configuration were studied. Rules were defined to derive the ESN\u27s semantic relationship distribution from the current SN\u27s semantic relationship distribution. A mapping function was defined to map the SN\u27s concept configuration to the ESN\u27s concept configuration, avoiding redundant classifications in the ESN\u27s concept configuration. (3) Several new metaschemas for the SN and the ESN were built and evaluated based on several different partitioning techniques. Each of these metaschema can serve as a higher-level abstraction of the SN (or the ESN)

Mapping the Gene Ontology Into the Unified Medical Language System

We have recently mapped the Gene Ontology (GO), developed by the Gene Ontology Consortium, into the National Library of Medicine's Unified Medical Language System (UMLS). GO has been developed for the purpose of annotating gene products in genome databases, and the UMLS has been developed as a framework for integrating large numbers of disparate terminologies, primarily for the purpose of providing better access to biomedical information sources. The mapping of GO to UMLS highlighted issues in both terminology systems. After some initial explorations and discussions between the UMLS and GO teams, the GO was integrated with the UMLS. Overall, a total of 23% of the GO terms either matched directly (3%) or linked (20%) to existing UMLS concepts. All GO terms now have a corresponding, official UMLS concept, and the entire vocabulary is available through the web-based UMLS Knowledge Source Server. The mapping of the Gene Ontology, with its focus on structures, processes and functions at the molecular level, to the existing broad coverage UMLS should contribute to linking the language and practices of clinical medicine to the language and practices of genomics

Abstraction, extension and structural auditing with the UMLS semantic network

The Unified Medical Language System (UMLS) is a two-level biomedical terminological knowledge base, consisting of the Metathesaurus (META) and the Semantic Network (SN), which is an upper-level ontology of broad categories called semantic types (STs). The two levels are related via assignments of one or more STs to each concept of the META. Although the SN provides a high-level abstraction for the META, it is not compact enough. Various metaschemas, which are compact higher-level abstraction networks of the SN, have been derived. A methodology is presented to evaluate and compare two given metaschemas, based on their structural properties. A consolidation algorithm is designed to yield a consolidated metaschema maintaining the best and avoiding the worst of the two given metaschemas. The methodology and consolidation algorithm were applied to the pair of heuristic metaschemas, the top-down metaschema and the bottom-up metaschema, which have been derived from two studies involving two groups of UMLS experts. The results show that the consolidated metaschema has better structural properties than either of the two input metaschemas. Better structural properties are expected to lead to better utilization of a metaschema in orientation and visualization of the SN. Repetitive consolidation, which leads to further structural improvements, is also shown. The META and SN were created in the absence of a comprehensive curated genomics terminology. The internal consistency of the SN\u27s categories which are relevant to genomics is evaluated and changes to improve its ability to express genomic knowledge are proposed. The completeness of the SN with respect to genomic concepts is evaluated and conesponding extensions to the SN to fill identified gaps are proposed. Due to the size and complexity of the UMLS, errors are inevitable. A group auditing methodolgy is presented, where the ST assignments for groups of similar concepts are audited. The extent of an ST, which is the group of all concepts assigned this ST, is divided into groups of concepts that have been assigned exactly the same set of STs. An algorithm finds subgroups of suspicious concepts. The auditor is presented with these subgroups, which purportedly exhibit the same semantics, and thus he will notice different concepts with wrong or missing ST assignments. Another methodology partitions these groups into smaller, singly rooted, hierarchically organized sets used to audit the hierarchical relationships. The algorithmic methodologies are compared with a comprehensive manual audit and show a very high error recall with a much higher precision than the manual exhaustive review

Structural auditing methodologies for controlled terminologies

Several auditing methodologies for large controlled terminologies are developed. These are applied to the Unified Medical Language System XXXX and the National Cancer Institute Thesaurus (NCIT). Structural auditing methodologies are based on the structural aspects such as IS-A hierarchy relationships groups of concepts assigned to semantic types and groups of relationships defined for concepts. Structurally uniform groups of concepts tend to be semantically uniform. Structural auditing methodologies focus on concepts with unlikely or rare configuration. These concepts have a high likelihood for errors. One of the methodologies is based on comparing hierarchical relationships between the META and SN, two major knowledge sources of the UMLS. In general, a correspondence between them is expected since the SN hierarchical relationships should abstract the META hierarchical relationships. It may indicate an error when a mismatch occurs. The UMLS SN has 135 categories called semantic types. However, in spite of its medium size, the SN has limited use for comprehension purposes because it cannot be easily represented in a pictorial form, it has many (about 7,000) relationships. Therefore, a higher-level abstraction for the SN called a metaschema, is constructed. Its nodes are meta-semantic types, each representing a connected group of semantic types of the SN. One of the auditing methodologies is based on a kind of metaschema called a cohesive metaschema. The focus is placed on concepts of intersections of meta-semantic types. As is shown, such concepts have high likelihood for errors. Another auditing methodology is based on dividing the NCIT into areas according to the roles of its concepts. Moreover, each multi-rooted area is further divided into pareas that are singly rooted. Each p-area contains a group of structurally and semantically uniform concepts. These groups, as well as two derived abstraction networks called taxonomies, help in focusing on concepts with potential errors. With genomic research being at the forefront of bioscience, this auditing methodology is applied to the Gene hierarchy as well as the Biological Process hierarchy of the NCIT, since processes are very important for gene information. The results support the hypothesis that the occurrence of errors is related to the size of p-areas. Errors are more frequent for small p-areas

Developing techniques for enhancing comprehensibility of controlled medical terminologies

A controlled medical terminology (CMT) is a collection of concepts (or terms) that are used in the medical domain. Typically, a CMT also contains attributes of those concepts and/or relationships between those concepts. Electronic CMTs are extremely useful and important for communication between and integration of independent information systems in healthcare, because data in this area is highly fragmented. A single query in this area might involve several databases, e.g., a clinical database, a pharmacy database, a radiology database, and a lab test database. Unfortunately, the extensive sizes of CMTs, often containing tens of thousands of concepts and hundreds of thousands of relationships between pairs of those concepts, impose steep learning curves for new users of such CMTs. In this dissertation, we address the problem of helping a user to orient himself in an existing large CMT. In order to help a user comprehend a large, complex CMT, we need to provide abstract views of the CMT. However, at this time, no tools exist for providing a user with such abstract views. One reason for the lack of tools is the absence of a good theory on how to partition an overwhelming CMT into manageable pieces. In this dissertation, we try to overcome the described problem by using a threepronged approach. (1) We use the power of Object-Oriented Databases to design a schema extraction process for large, complex CMTs. The schema resulting from this process provides an excellent, compact representation of the CMT. (2) We develop a theory and a methodology for partitioning a large OODI3 schema, modeled as a graph, into small meaningful units. The methodology relies on the interaction between a human and a computer, making optimal use of the human\u27s semantic knowledge and the computer\u27s speed. Furthermore, the theory and methodology developed for the scbemalevel partitioning are also adapted to the object-level of a CMT. (3) We use purely structural similarities for partitioning CMTs, eliminating the need for a human expert in the partitioning methodology mentioned above. Two large medical terminologies are used as our test beds, the Medical Entities Dictionary (MED) and the Unified Medical Language System (UMLS), which itself contains a number of terminologies

OQAFMA Querying Agent for the Foundational Model of Anatomy: a Prototype for Providing Flexible and Efficient Access to Large Semantic Networks

The development of large semantic networks, such as the UMLS, which are intended to support a variety of applications, requires a exible and e cient query interface for the extraction of information. Using one of the source vocabularies of UMLS as a test bed, we have developed such a prototype query interface. We rst identify common classes of queries needed by applications that access these semantic networks. Next, we survey STRUQL, an existing query language that we adopted, which supports all of these classes of queries. We then describe the OQAFMA Querying Agent for the Foundational Model of Anatomy (OQAFMA), which provides an e cient implementation of a subset of STRUQL by pre-computing a variety of indices. We describe how OQAFMA leverages database optimization by converting STRUQL queries to SQL. We evaluate the exibility and e ciency of our implementation using English queries written by anatomists. This evaluation veri es that OQAFMA provides exible, e cient access to one such large semantic network, the Foundational Model of Anatomy, and suggests that OQAFMA could be an e cient query interface to other large biomedical knowledge bases, such as the Uni ed Medical Language System

Classification of semantic relations in different syntactic structures in medical text using the MeSH hierarchy

Thesis (M. Eng.)--Massachusetts Institute of Technology, Dept. of Electrical Engineering and Computer Science, 2005.Includes bibliographical references (leaf 38).Two different classification algorithms are evaluated in recognizing semantic relationships of different syntactic compounds. The compounds, which include noun- noun, adjective-noun, noun-adjective, noun-verb, and verb-noun, were extracted from a set of doctors' notes using a part of speech tagger and a parser. Each compound was labeled with a semantic relationship, and each word in the compound was mapped to its corresponding entry in the MeSH hierarchy. MeSH includes only medical terminology so it was extended to include everyday, non-medical terms. The two classification algorithms, neural networks and a classification tree, were trained and tested on the data set for each type of syntactic compound. Models representing different levels of MeSH were generated and fed into the neural networks. Both algorithms performed better than random guessing, and the classification tree performed better than the neural networks in predicting the semantic relationship between phrases from their syntactic structure.by Neha Bhooshan.M.Eng