Rare diseases knowledge management: the contribution of proximity measurements in OntoOrpha and OMIM
نویسندگان
چکیده
In this paper, we introduce an application of Proxima and define a new measure of proximity between two concepts present in an ontology. The approach is based on the three dimensions of a conceptualization: intention with relations between concepts, expression with terms denoting concepts, and extension with instances of concepts. This preliminary work, in the field of rare diseases, involved the Orphanet Ontology of Rare Diseases (OntoOrpha) and corpus of texts extracted from Online Inheritance in Man (OMIM). The proximity measurements are consistent with an appropriate representation of groups of diseases in the ontology, which are derived from the Orphanet classifications of rare diseases. Other semantic relations are explored and new perspectives in medical knowledge curation are proposed.
منابع مشابه
OntoOrpha: An Ontology to Support the Editing and Audit of Knowledge of Rare Diseases in ORPHANET
ORPHANET is the reference information portal on rare diseases and orphan drugs for healthcare professionals and for general audience. After ten years of evolution, current ORPHANET tools cannot support efficiently the edition, update and data sharing processes demanded by a constantly growing rare diseases knowledge. In order to improve the editing workflow, we are conducting research to build ...
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عنوان ژورنال:
- Studies in health technology and informatics
دوره 180 شماره
صفحات -
تاریخ انتشار 2012