Dysmorphology is the practice of defining the morphologic phenotype of syndromic disorders. Genomic sequencing has advanced our understanding of human variation and molecular dysmorphology has evolved in response to the science of relating embryologi...
The FHIR specification provides a mechanism to access clinical terminologies using a standard API, and many existing terminologies, such as SNOMED CT, are well supported. However, in areas such as genomics, terminologies from other domains are starti...
The integration of genetic information in current clinical routine has raised a need for tools to exploit family genetic knowledge. On the clinical side, an application for managing and visualizing pedigree diagrams could provide genetics specialists...
METHODICAL ISSUE: Machine learning (ML) algorithms have an increasingly relevant role in radiology tackling tasks such as the automatic detection and segmentation of diagnosis-relevant markers, the quantification of progression and response, and thei...
Medical archives (Sarajevo, Bosnia and Herzegovina)
32317833
INTRODUCTION: The World Health Organization has estimated that 12 million deaths occur worldwide, every year due to Heart diseases. Half the deaths in the developed countries are due to cardiovascular diseases. The early prognosis of cardiovascular d...
Biochimica et biophysica acta. Molecular basis of disease
32360590
Lung cancer is one of the most common cancer types worldwide and causes more than one million deaths annually. Lung adenocarcinoma (AC) and lung squamous cell cancer (SCC) are two major lung cancer subtypes and have different characteristics in sever...
SNOMED CT is a comprehensive and evolving clinical reference terminology that has been widely adopted as a common vocabulary to promote interoperability between Electronic Health Records. Owing to its importance in healthcare, quality assurance becom...
Journal of the American Medical Informatics Association : JAMIA
32719840
OBJECTIVE: Coordination ellipsis is a linguistic phenomenon abound in medical text and is challenging for concept normalization because of difficulty in recognizing elliptical expressions referencing 2 or more entities accurately. To resolve this bot...
Studies in history and philosophy of biological and biomedical sciences
32919896
Ethnobotanical research provides ample justification for comparing diverse biological nomenclatures and exploring ways that retain alternative naming practices. However, how (and whether) comparison of nomenclatures is possible remains a subject of d...
Journal of the American Medical Informatics Association : JAMIA
32918476
OBJECTIVE: The Unified Medical Language System (UMLS) integrates various source terminologies to support interoperability between biomedical information systems. In this article, we introduce a novel transformation-based auditing method that leverage...