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

R Choquet, M Maaroufi, Y Fonjallaz… - AMIA Annual …, 2015 - ncbi.nlm.nih.gov
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 …

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

R Choquet, M Maaroufi, Y Fonjallaz… - AMIA... Annual …, 2015 - europepmc.org
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 …

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

R Choquet, M Maaroufi, Y Fonjallaz… - AMIA... Annual …, 2015 - pubmed.ncbi.nlm.nih.gov
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 …

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

M Maaroufi, Y Fonjallaz, A de Carrara - researchgate.net
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 …

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

R Choquet, M Maaroufi, Y Fonjallaz… - AMIA... Annual …, 2015 - hal.science
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 …

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

R Choquet, M Maaroufi, Y Fonjallaz… - AMIA... Annual …, 2015 - europepmc.org
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 …

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

R Choquet, M Maaroufi, Y Fonjallaz, A de Carrara… - researchgate.net
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 …