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Authors: Rafael Mendonça 1 ; Pedro Lopes 1 ; Hugo Rocha 2 ; Jorge Oliveira 2 ; Laura Vilarinho 2 ; Rosário Santos 2 and José Luís Oliveira 1

Affiliations: 1 University of Aveiro, Portugal ; 2 Centro de Genética Médica Jacinto Magalhães and INSA, Portugal

ISBN: 978-989-8425-88-1

ISSN: 2184-4305

Keyword(s): Rare diseases, Genetic mutations, Reference centers, LSDB.

Related Ontology Subjects/Areas/Topics: Biomedical Engineering ; Clinical Problems and Applications ; Design and Development Methodologies for Healthcare IT ; Electronic Health Records and Standards ; Evaluation and Use of Healthcare IT ; Health Information Systems ; Healthcare Management Systems

Abstract: Information technology is increasingly present in medicine, and is emerging as a crucial tool both in clinical monitoring and knowledge dissemination, increasing the success rate in diagnosis and subsequently during treatment. A particular sub-group of diseases are designated rare or orphan due to the small number of people suffering from these illnesses. They are sometimes disabling, reducing the quality of life of patients and affect all relatives around them. The aim of this project was to build a Web information system to support practice and clinical research in rare diseases, and to facilitate the collection of scientific information, diagnosis, treatment and patient support. Through this system, one can optimize specialized medical resources, computing resources and data quality, so that the information is available for consulting and supporting future decisions. This developed system also allows health professionals to share information that will be important for enhancing the quality and technological advancement in this area of public health. (More)

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Paper citation in several formats:
Mendonça, R.; Lopes, P.; Rocha, H.; Oliveira, J.; Vilarinho, L.; Santos, R. and Oliveira, J. (2012). GATHERING AND MANAGING GENOTYPE AND PHENOTYPE INFORMATION ABOUT RARE DISEASES PATIENTS.In Proceedings of the International Conference on Health Informatics - Volume 1: HEALTHINF, (BIOSTEC 2012) ISBN 978-989-8425-88-1, pages 423-426. DOI: 10.5220/0003791204230426

@conference{healthinf12,
author={Rafael Mendon\c{C}a. and Pedro Lopes. and Hugo Rocha. and Jorge Oliveira. and Laura Vilarinho. and Rosário Santos. and José Luís Oliveira.},
title={GATHERING AND MANAGING GENOTYPE AND PHENOTYPE INFORMATION ABOUT RARE DISEASES PATIENTS},
booktitle={Proceedings of the International Conference on Health Informatics - Volume 1: HEALTHINF, (BIOSTEC 2012)},
year={2012},
pages={423-426},
publisher={SciTePress},
organization={INSTICC},
doi={10.5220/0003791204230426},
isbn={978-989-8425-88-1},
}

TY - CONF

JO - Proceedings of the International Conference on Health Informatics - Volume 1: HEALTHINF, (BIOSTEC 2012)
TI - GATHERING AND MANAGING GENOTYPE AND PHENOTYPE INFORMATION ABOUT RARE DISEASES PATIENTS
SN - 978-989-8425-88-1
AU - Mendonça, R.
AU - Lopes, P.
AU - Rocha, H.
AU - Oliveira, J.
AU - Vilarinho, L.
AU - Santos, R.
AU - Oliveira, J.
PY - 2012
SP - 423
EP - 426
DO - 10.5220/0003791204230426

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