Investigating subsumption in DL-based terminologies: A case study in SNOMED CT

Formalisms such as description logics (DL) are sometimes expected to help terminologies ensure compliance with sound ontological principles. The objective of this paper is to study the degree to which one DL-based biomedical terminology (SNOMED CT) complies with such principles. We defined seven ontological principles (for example: each class must have at least one parent, each class must differ from its parent) and examined the properties of SNOMED CT classes with respect to these principles. Our major results are: 31% of the classes have a single child; 27% have multiple parents; 51% do not exhibit any differentiae between the description of the parent and that of the child. The applications of this study to quality assurance for ontologies are discussed and suggestions are made for dealing with multiple inheritance

Investigating Subsumption in SNOMED CT: An Exploration into Large Description Logic-Based Biomedical Terminologies

Formalisms based on one or other flavor of Description Logic (DL) are sometimes put forward as helping to ensure that terminologies and controlled vocabularies comply with sound ontological principles. The objective of this paper is to study the degree to which one DL-based biomedical terminology (SNOMED CT) does indeed comply with such principles. We defined seven ontological principles (for example: each class must have at least one parent, each class must differ from its parent) and examined the properties of SNOMED CT classes with respect to these principles. Our major results are: 31% of these classes have a single child; 27% have multiple parents; 51% do not exhibit any differentiae between the description of the parent and that of the child. The applications of this study to quality assurance for ontologies are discussed and suggestions are made for dealing with the phenomenon of multiple inheritance. The advantages and limitations of our approach are also discussed

Structural indicators for effective quality assurance of snomed ct

The Standardized Nomenclature of Medicine -- Clinical Terms (SNOMED CT -- further abbreviated as SCT) has been endorsed as a premier clinical terminology by many national and international organizations. The US Government has chosen SCT to play a significant role in its initiative to promote Electronic Health Record (EH R) country-wide. However, there is evidence suggesting that, at the moment, SCT is not optimally modeled for its intended use by healthcare practitioners. There is a need to perform quality assurance (QA) of SCT to help expedite its use as a reference terminology for clinical purposes as planned for EH R use. The central theme of this dissertation is to define a group-based auditing methodology to effectively identify concepts of SCT that require QA. As such, similarity sets are introduced which are groups of concepts that are lexically identical except for one word. Concepts in a similarity set are expected to be modeled in a consistent way. If not, the set is considered to be inconsistent and submitted for review by an auditor. Initial studies found 38% of such sets to be inconsistent. The effectiveness of these sets is further improved through the use of three structural indicators. Using such indicators as the number of parents, relationships and role groups, up to 70% of the similarity sets and 32.6% of the concepts are found to exhibit inconsistencies. Furthermore, positional similarity sets, which are similarity sets with the same position of the differing word in the concept’s terms, are introduced to improve the likelihood of finding errors at the concept level. This strictness in the position of the differing word increases the lexical similarity between the concepts of a set thereby increasing the contrast between lexical similarities and modeling differences. This increase in contrast increases the likelihood of finding inconsistencies. The effectiveness of positional similarity sets in finding inconsistencies is further improved by using the same three structural indicators as discussed above in the generation of these sets. An analysis of 50 sample sets with differences in the number of relationships reveal 41.6% of the concepts to be inconsistent. Moreover, a study is performed to fully automate the process of suggesting attributes to enhance the modeling of SCT concepts using positional similarity sets. A technique is also used to automatically suggest the corresponding target values. An analysis of 50 sample concepts show that, of the 103 suggested attributes, 67 are manually confirmed to be correct. Finally, a study is conducted to examine the readiness of SCT problem list (PL) to support meaningful use of EHR. The results show that the concepts in PL suffer from the same issues as general SCT concepts, although to a slightly lesser extent, and do require further QA efforts. To support such efforts, structural indicators in the form of the number of parents and the number of words are shown to be effective in ferreting out potentially problematic concepts in which QA efforts should be focused. A structural indicator to find concepts with synonymy problems is also presented by finding pairs of SCT concepts that map to the same UMLS concept

Relationship auditing of the FMA ontology

The Foundational Model of Anatomy (FMA) ontology is a domain reference ontology based on a disciplined modeling approach. Due to its large size, semantic complexity and manual data entry process, errors and inconsistencies are unavoidable and might remain within the FMA structure without detection. In this paper, we present computable methods to highlight candidate concepts for various relation- ship assignment errors. The process starts with locating structures formed by transitive structural relationships (part_of, tributary_of, branch_of) and examine their assignments in the context of the IS-A hierarchy. The algorithms were designed to detect five major categories of possible incorrect relationship assignments: circular, mutually exclusive, redundant, inconsistent, and missed entries. A domain expert reviewed samples of these presumptive errors to confirm the findings. Seven thousand and fifty-two presumptive errors were detected, the largest proportion related to part_of relationship assignments. The results highlight the fact that errors are unavoidable in complex ontologies and that well designed algorithms can help domain experts to focus on concepts with high likelihood of errors and maximize their effort to ensure consistency and reliability. In the future similar methods might be integrated with data entry processes to offer real-time error detection

Automatic medical term generation for a low-resource language: translation of SNOMED CT into Basque

211 p. (eusk.) 148 p. (eng.)Tesi-lan honetan, terminoak automatikoki euskaratzeko sistemak garatu eta ebaluatu ditugu. Horretarako,SNOMED CT, terminologia kliniko zabala barnebiltzen duen ontologia hartu dugu abiapuntutzat, etaEuSnomed deritzon sistema garatu dugu horren euskaratzea kudeatzeko. EuSnomedek lau urratsekoalgoritmoa inplementatzen du terminoen euskarazko ordainak lortzeko: Lehenengo urratsak baliabidelexikalak erabiltzen ditu SNOMED CTren terminoei euskarazko ordainak zuzenean esleitzeko. Besteakbeste, Euskalterm banku terminologikoa, Zientzia eta Teknologiaren Hiztegi Entziklopedikoa, eta GizaAnatomiako Atlasa erabili ditugu. Bigarren urratserako, ingelesezko termino neoklasikoak euskaratzekoNeoTerm sistema garatu dugu. Sistema horrek, afixu neoklasikoen baliokidetzak eta transliterazio erregelakerabiltzen ditu euskarazko ordainak sortzeko. Hirugarrenerako, ingelesezko termino konplexuak euskaratzendituen KabiTerm sistema garatu dugu. KabiTermek termino konplexuetan agertzen diren habiaratutakoterminoen egiturak erabiltzen ditu euskarazko egiturak sortzeko, eta horrela termino konplexuakosatzeko. Azken urratsean, erregeletan oinarritzen den Matxin itzultzaile automatikoa osasun-zientziendomeinura egokitu dugu, MatxinMed sortuz. Horretarako Matxin domeinura egokitzeko prestatu dugu,eta besteak beste, hiztegia zabaldu diogu osasun-zientzietako testuak itzuli ahal izateko. Garatutako lauurratsak ebaluatuak izan dira metodo ezberdinak erabiliz. Alde batetik, aditu talde txiki batekin egin dugulehenengo bi urratsen ebaluazioa, eta bestetik, osasun-zientzietako euskal komunitateari esker egin dugunMedbaluatoia kanpainaren baitan azkeneko bi urratsetako sistemen ebaluazioa egin da

A chemical specialty semantic network for the Unified Medical Language System

Background Terms representing chemical concepts found the Unified Medical Language System (UMLS) are used to derive an expanded semantic network with mutually exclusive semantic types. The UMLS Semantic Network (SN) is composed of a collection of broad categories called semantic types (STs) that are assigned to concepts. Within the UMLS’s coverage of the chemical domain, we find a great deal of concepts being assigned more than one ST. This leads to the situation where the extent of a given ST may contain concepts elaborating variegated semantics. A methodology for expanding the chemical subhierarchy of the SN into a finer-grained categorization of mutually exclusive types with semantically uniform extents is presented. We call this network a Chemical Specialty Semantic Network (CSSN). A CSSN is derived automatically from the existing chemical STs and their assignments. The methodology incorporates a threshold value governing the minimum size of a type’s extent needed for inclusion in the CSSN. Thus, different CSSNs can be created by choosing different threshold values based on varying requirements. Results A complete CSSN is derived using a threshold value of 300 and having 68 STs. It is used effectively to provide high-level categorizations for a random sample of compounds from the “Chemical Entities of Biological Interest” (ChEBI) ontology. The effect on the size of the CSSN using various threshold parameter values between one and 500 is shown. Conclusions The methodology has several potential applications, including its use to derive a pre-coordinated guide for ST assignments to new UMLS chemical concepts, as a tool for auditing existing concepts, inter-terminology mapping, and to serve as an upper-level network for ChEBI

Information Systems and Healthcare XXXIV: Clinical Knowledge Management Systems—Literature Review and Research Issues for Information Systems

Knowledge Management (KM) has emerged as a possible solution to many of the challenges facing U.S. and international healthcare systems. These challenges include concerns regarding the safety and quality of patient care, critical inefficiency, disparate technologies and information standards, rapidly rising costs and clinical information overload. In this paper, we focus on clinical knowledge management systems (CKMS) research. The objectives of the paper are to evaluate the current state of knowledge management systems diffusion in the clinical setting, assess the present status and focus of CKMS research efforts, and identify research gaps and opportunities for future work across the medical informatics and information systems disciplines. The study analyzes the literature along two dimensions: (1) the knowledge management processes of creation, capture, transfer, and application, and (2) the clinical processes of diagnosis, treatment, monitoring and prognosis. The study reveals that the vast majority of CKMS research has been conducted by the medical and health informatics communities. Information systems (IS) researchers have played a limited role in past CKMS research. Overall, the results indicate that there is considerable potential for IS researchers to contribute their expertise to the improvement of clinical process through technology-based KM approaches