Are ICD codes reliable for observational studies? Assessing coding consistency for data quality.

Objective: International Classification of Diseases (ICD) codes recorded in electronic health records (EHRs) are frequently used to create patient cohorts or define phenotypes. Inconsistent assignment of codes may reduce the utility of such cohorts. We assessed the reliability across time and location of the assignment of ICD codes in a US health system at the time of the transition from ICD-9-CM (ICD, 9th Revision, Clinical Modification) to ICD-10-CM (ICD, 10th Revision, Clinical Modification).

Something new and different: The Unified Medical Language System.

Donald A.B. Lindberg M.

Something New and Different: The Unified Medical Language System.

Donald A.B. Lindberg M.

A bottom-up approach to creating an ontology for medication indications.

Objectives: The study sought to learn if it were possible to develop an ontology that would allow the Food and Drug Administration approved indications to be expressed in a manner computable and comparable to what is expressed in an electronic health record.

Materials And Methods: A random sample of 1177 of the 3000+ extant, distinct medical products (identified by unique new drug application numbers) was selected for investigation. Close manual examination of the indication portion of the labels for these drugs led to the development of a formal model of indications.

Exploring patient information needs in type 2 diabetes: A cross sectional study of questions.

This study set out to analyze questions about type 2 diabetes mellitus (T2DM) from patients and the public. The aim was to better understand people's information needs by starting with what they do not know, discovered through their own questions, rather than starting with what we know about T2DM and subsequently finding ways to communicate that information to people affected by or at risk of the disease. One hundred and sixty-four questions were collected from 120 patients attending outpatient diabetes clinics and 300 questions from 100 members of the public through the Amazon Mechanical Turk crowdsourcing platform.

Formalizing drug indications on the road to therapeutic intent.

Therapeutic intent, the reason behind the choice of a therapy and the context in which a given approach should be used, is an important aspect of medical practice. There are unmet needs with respect to current electronic mapping of drug indications. For example, the active ingredient sildenafil has 2 distinct indications, which differ solely on dosage strength.

Soliciting and Responding to Patients' Questions about Diabetes Through Online Sources.

When patients cannot get answers from health professionals or retain the information given, increasingly they search online for answers, with limited success. Researchers from the United States, Ireland, and the United Kingdom explored this problem for patients with type 2 diabetes mellitus (T2DM). In 2014, patients attending an outpatient clinic (UK) were asked to submit questions about diabetes.

Bioprospecting the Bibleome: Adding Evidence to Support the Inflammatory Basis of Cancer.

Background Cancer Significance And Question: BioProspecting is a novel approach that enabled our team to mine genetic marker related data from the New England Journal of Medicine (NEJM) utilizing Systematized Nomenclature of Medicine-Clinical Terms (SNOMED CT) and the Human Gene Ontology (HUGO). Genes associated with disorders using the Multi-threaded Clinical Vocabulary Server (MCVS) Natural Language Processing (NLP) engine, whose output was represented as an ontology-network incorporating the semantic encodings of the literature. Metabolic functions were used to identify potentially novel relationships between (genes or proteins) and (diseases or drugs).

Safety and efficacy of damage control external fixation versus early definitive stabilization for femoral shaft fractures in the multiple-injured patient.

Background: Optimal timing and treatment of patients with concomitant head, thoracic, or abdominal injury and femoral shaft fracture remain controversial. This study examines acute patient outcomes associated with early total care with intramedullary nailing (ETC group) versus damage control external fixation (DCO group) for multiple-injured patients with femoral shaft fractures. We propose DCO as a safe initial treatment for the multiple-injured patient with femur shaft fractures.

BioProspecting: novel marker discovery obtained by mining the bibleome.

BioProspecting is a novel approach that enabled our team to mine data related to genetic markers from the New England Journal of Medicine (NEJM) utilizing SNOMED CT and the Human Gene Onotology (HUGO). The Biomedical Informatics Research Collaborative was able to link genes and disorders using the Multi-threaded Clinical Vocabulary Server (MCVS) and natural language processing engine, whose output creates an ontology-network using the semantic encodings of the literature that is organized by these two terminologies. We identified relationships between (genes or proteins) and (diseases or drugs) as linked by metabolic functions and identified potentially novel functional relationships between, for example, genes and diseases (e.

Using the UMLS Semantic Network to validate NCI Thesaurus structure and analyze its alignment with the OBO relations ontology.

NCI Thesaurus entries reference corresponding nodes in the UMLS Semantic Network (SN). Adapting a process previously used to refine relationship definitions in the UMLS Metathesaurus, we used these Thesaurus-to-Network references to analyze alignment of the Thesaurus with the OBO Relations Ontology and at the same time validate and improve Thesaurus structure. Given this experience, we offer suggestions for enhancement of the UMLS SN so that it can be even more useful in the future.

A web-based SNOMED CT browser: distributed and real-time use of SNOMED CT during the clinical research process.

To facilitate the use of standard terminologies in clinical research data collection, members of the Rare Disease Clinical Research Network have developed tools to support study investigators and research staff to code clinical research data using SNOMED CT at the point of research. This tool is customized to help the user find appropriate SNOMED CT concepts quickly, and has implications for the successful implementation of data standards to facilitate high quality research data. This paper gives an overview of an automated tool for accessing, searching, and navigating SNOMED CT real-time, at distributed and remote clinical study locations.

Categorical information in pharmaceutical terminologies.

Drug information sources use category labels to assist in navigating and organizing information. Some category labels describe drugs from multiple perspectives (e.g.

VA National Drug File Reference Terminology: a cross-institutional content coverage study.

Background: Content coverage studies provide valuable information to potential users of terminologies. We detail the VA National Drug File Reference Terminology's (NDF-RT) ability to represent dictated medication list phrases from the Mayo Clinic. NDF-RT is a description logic-based resource created to support clinical operations at one of the largest healthcare providers in the US.

Achieving "source transparency" in the UMLS Metathesaurus.

The UMLS Metathesaurus is a syntactically uniform, concept-based, semantically enhanced representation of many of the world's authoritative biomedical vocabularies. Released several times a year, the Metathesaurus is becoming a common, longitudinally maintained source of the current versions of these vocabularies. As vocabularies become standards for reimbursement, reporting, interoperation, and use by applications, the vocabulary obtained from the Metathesaurus must be consistent with that obtainable from each vocabulary's authority.

NCI Thesaurus: using science-based terminology to integrate cancer research results.

Cancer researchers need to be able to organize and report their results in a way that others can find, build upon, and relate to the specific clinical conditions of individual patients. NCI Thesaurus is a description logic terminology based on current science that helps individuals and software applications connect and organize the results of cancer research, e.g.

A semantic normal form for clinical drugs in the UMLS: early experiences with the VANDF.

A semantic normal form (SNF) for a clinical drug, designed to represent the meaning of an expression typically seen in a practitioner's medication order, has been developed and is being created in the UMLS Metathesaurus. The long term goal is to establish a relationship for every concept in the Metathesaurus with semantic type "clinical drug" with one or more of these semantic normal forms. First steps have been taken using the Veterans Administration National Drug File (VANDF).

Initializing the VA medication reference terminology using UMLS metathesaurus co-occurrences.

We developed and evaluated a UMLS Metathesaurus Co-occurrence mining algorithm to connect medications and diseases they may treat. Based on 16 years of co-occurrence data, we created 977 candidate drug-disease pairs for a sample of 100 ingredients (50 commonly prescribed and 50 selected at random). Our evaluation showed that more than 80% of the candidate drug-disease pairs were rated "APPROPRIATE" by physician raters.

Bethesda proposals for classification of nonlymphoid hematopoietic neoplasms in mice.

The hematopathology subcommittee of the Mouse Models of Human Cancers Consortium recognized the need for a classification of murine hematopoietic neoplasms that would allow investigators to diagnose lesions as well-defined entities according to accepted criteria. Pathologists and investigators worked cooperatively to develop proposals for the classification of lymphoid and nonlymphoid hematopoietic neoplasms. It is proposed here that nonlymphoid hematopoietic neoplasms of mice be classified in 4 broad categories: nonlymphoid leukemias, nonlymphoid hematopoietic sarcomas, myeloid dysplasias, and myeloid proliferations (nonreactive).