Design and implementation of a terminological knowledge base on rare diseases

Abstract

This article focuses on the creation of conceptually-based terminographical resources for managing medical terminology. We present a bilingual (French and Spanish) terminological knowledge base on a large group of rare diseases, namely inborn errors of metabolism. This resource gives its users conceptually structured access to the terminology used when referring to these diseases and their signs and symptoms. After introducing the theoretical framework underpinning its design, we describe the various stages in the creation of the knowledge base itself: compilation, tagging, exploitation of the working corpus and construction of the underlying ontology. We then give an overview of the salient data and provide a guide to the functionalities of the query interface. The purpose of the resource is to describe the sub-domain in question and serve as a source of information for specialist translators.