Infectious Disease Ontology

Technological developments have resulted in tremendous increases in the volume and diversity of the data and information that must be processed in the course of biomedical and clinical research and practice. Researchers are at the same time under ever greater pressure to share data and to take steps to ensure that data resources are interoperable. The use of ontologies to annotate data has proven successful in supporting these goals and in providing new possibilities for the automated processing of data and information. In this chapter, we describe different types of vocabulary resources and emphasize those features of formal ontologies that make them most useful for computational applications. We describe current uses of ontologies and discuss future goals for ontology-based computing, focusing on its use in the field of infectious diseases. We review the largest and most widely used vocabulary resources relevant to the study of infectious diseases and conclude with a description of the Infectious Disease Ontology (IDO) suite of interoperable ontology modules that together cover the entire infectious disease domain

Terminology Services: Standard Terminologies to Control Medical Vocabulary. “Words are Not What they Say but What they Mean”

Data entry is an obstacle for the usability of electronic health records (EHR) applications and the acceptance of physicians, who prefer to document using “free text”. Natural language is huge and very rich in details but at the same time is ambiguous; it has great dependence on context and uses jargon and acronyms. Healthcare Information Systems should capture clinical data in a structured and preferably coded format. This is crucial for data exchange between health information systems, epidemiological analysis, quality and research, clinical decision support systems, administrative functions, etc. In order to address this point, numerous terminological systems for the systematic recording of clinical data have been developed. These systems interrelate concepts of a particular domain and provide reference to related terms and possible definitions and codes. The purpose of terminology services consists of representing facts that happen in the real world through database management. This process is named Semantic Interoperability. It implies that different systems understand the information they are processing through the use of codes of clinical terminologies. Standard terminologies allow controlling medical vocabulary. But how do we do this? What do we need? Terminology services are a fundamental piece for health data management in health environment

Ascertaining Pain in Mental Health Records:Combining Empirical and Knowledge-Based Methods for Clinical Modelling of Electronic Health Record Text

In recent years, state-of-the-art clinical Natural Language Processing (NLP), as in other domains, has been dominated by neural networks and other statistical models. In contrast to the unstructured nature of Electronic Health Record (EHR) text, biomedical knowledge is increasingly available in structured and codified forms, underpinned by curated databases, machine-readable clinical guidelines, and logically defined terminologies. This thesis examines the incorporation of external medical knowledge into clinical NLP and tests these methods on a use case of ascertaining physical pain in clinical notes of mental health records.Pain is a common reason for accessing healthcare resources and has been a growing area of research, especially its impact on mental health. Pain also presents a unique NLP problem due to its ambiguous nature and the varying circumstances in which it can be used. For these reasons, pain has been chosen as a use case, making it a good case study for the application of the methods explored in this thesis. Models are built by assimilating both structured medical knowledge and clinical NLP and leveraging the inherent relations that exist within medical ontologies. The data source used in this project is a mental health EHR database called CRIS, which contains de-identified patient records from the South London and Maudsley NHS Foundation Trust, one of the largest mental health providers in Western Europe.A lexicon of pain terms was developed to identify documents within CRIS mentioning painrelated terms. Gold standard annotations were created by conducting manual annotations on these documents. These gold standard annotations were used to build models for a binary classification task, with the objective of classifying sentences from the clinical text as “relevant”, which indicates the sentence contains relevant mentions of pain, i.e., physical pain affecting the patient, or “not relevant”, which indicates the sentence does not contain mentions of physical pain, or the mention does not relate to the patient (ex: someone else in physical pain). Two models incorporating structured medical knowledge were built:1. a transformer-based model, SapBERT, that utilises a knowledge graph of the UMLS ontology, and2. a knowledge graph embedding model that utilises embeddings from SNOMED CT, which was then used to build a random forest classifier. This was achieved by modelling the clinical pain terms and their relations from SNOMED CT into knowledge graph embeddings, thus combining the data-driven view of clinical language, with the logical view of medical knowledge.These models have been compared with NLP models (binary classifiers) that do not incorporate such structured medical knowledge:1. a transformer-based model, BERT_base, and2. a random forest classifier model.Amongst the two transformer-based models, SapBERT performed better at the classification task (F1-score: 0.98), and amongst the random forest models, the one incorporating knowledge graph embeddings performed better (F1-score: 0.94). The SapBERT model was run on sentences from a cohort of patients within CRIS, with the objective of conducting a prevalence study to understand the distribution of pain based on sociodemographic and diagnostic factors.The contribution of this research is both methodological and practical, showing the difference between a conventional NLP approach of binary classification and one that incorporates external knowledge, and further utilising the models obtained from both these approaches ina prevalence study which was designed based on inputs from clinicians and a patient and public involvement group. The results emphasise the significance of going beyond the conventional approach to NLP when addressing complex issues such as pain.<br/

Ontology-Based Clinical Information Extraction Using SNOMED CT

Extracting and encoding clinical information captured in unstructured clinical documents with standard medical terminologies is vital to enable secondary use of clinical data from practice. SNOMED CT is the most comprehensive medical ontology with broad types of concepts and detailed relationships and it has been widely used for many clinical applications. However, few studies have investigated the use of SNOMED CT in clinical information extraction. In this dissertation research, we developed a fine-grained information model based on the SNOMED CT and built novel information extraction systems to recognize clinical entities and identify their relations, as well as to encode them to SNOMED CT concepts. Our evaluation shows that such ontology-based information extraction systems using SNOMED CT could achieve state-of-the-art performance, indicating its potential in clinical natural language processing

Snomed CT in a Language Isolate: an Algorithm for a Semiautomatic Translation

Background:: The Systematized Nomenclature of Medicine - Clinical Terms (SNOMED CT) is officially released in English and Spanish. In the Basque Autonomous Community two languages, Spanish and Basque, are official. The first attempt to semi-automatically translate the SNOMED CT terminology content to Basque, a less resourced language is presented in this paper. Methods:: A translation algorithm that has its basis in Natural Language Processing methods has been designed and partially implemented. The algorithm comprises four phases from which the first two have been implemented and quantitatively evaluated. Results:: Results are promising as we obtained the equivalents in Basque of 21.41% of the disorder terms of the English SNOMED CT release. As the methods developed are focused on that hierarchy, the results in other hierarchies are lower (12.57% for body structure descriptions, 8.80% for findings and 3% for procedures). Conclusions:: We are in the way to reach two of our objectives when translating SNOMED CT to Basque: to use our language to access rich multilingual resources and to strengthen the use of the Basque language in the biomedical area.This work was partially supported by the European Commission (325099), the Spanish Ministry of Science and Innovation (TIN2012-38584-C06-02) and the Basque Government (IT344-10 and IE12-333). Olatz Perez-de-Viñaspre's work is funded by a PhD grant from the Basque Government (BFI-2011-389)

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

Strengths and Limitations of Formal Ontologies in the Biomedical Domain

We propose a typology of representational artifacts for health care and life sciences domains and associate this typology with different kinds of formal ontology and logic, drawing conclusions as to the strengths and limitations for ontology in a description logics framework. The four types of domain representation we consider are: (i) lexico-semantic representation, (ii) representation of types of entities, (iii) representations of background knowledge, and (iv) representation of individuals. We advocate a clear distinction of the four kinds of representation in order to provide a more rational basis for using ontologies and related artifacts to advance integration of data and enhance interoperability of associated reasoning systems. We highlight the fact that only a minor portion of scientifically relevant facts in a domain such as biomedicine can be adequately represented by formal ontologies as long as the latter are conceived as representations of entity types. In particular, the attempt to encode default or probabilistic knowledge using ontologies so conceived is prone to produce unintended, erroneous models

Towards a New Science of a Clinical Data Intelligence

In this paper we define Clinical Data Intelligence as the analysis of data generated in the clinical routine with the goal of improving patient care. We define a science of a Clinical Data Intelligence as a data analysis that permits the derivation of scientific, i.e., generalizable and reliable results. We argue that a science of a Clinical Data Intelligence is sensible in the context of a Big Data analysis, i.e., with data from many patients and with complete patient information. We discuss that Clinical Data Intelligence requires the joint efforts of knowledge engineering, information extraction (from textual and other unstructured data), and statistics and statistical machine learning. We describe some of our main results as conjectures and relate them to a recently funded research project involving two major German university hospitals.Comment: NIPS 2013 Workshop: Machine Learning for Clinical Data Analysis and Healthcare, 201