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LORD: a phenotype-genotype semantically integrated biomedical data tool to support rare disease diagnosis coding in health information systems

Characterizing a rare disease diagnosis for a given patient is often made through expert’s networks. It is a complex task that could evolve over time depending on the natural history of the disease and the evolution of the scientific knowledge. Most rare diseases have genetic causes and recent impro...

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Bibliographische Detailangaben
Veröffentlicht in:AMIA Annu Symp Proc
Hauptverfasser: Choquet, Remy, Maaroufi, Meriem, Fonjallaz, Yannick, de Carrara, Albane, Vandenbussche, Pierre-Yves, Dhombres, Ferdinand, Landais, Paul
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Medical Informatics Association 2015
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4765596/
https://ncbi.nlm.nih.gov/pubmed/26958175
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