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View article: LORD: a phenotype-genotype semantically integrated biomedical data tool to support rare disease diagnosis coding in health information systems
LORD: a phenotype-genotype semantically integrated biomedical data tool to support rare disease diagnosis coding in health information systems Open
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 knowl…
View article: The French minimum data for rare diseases, Fast health interoperability resource (FHIR) format
The French minimum data for rare diseases, Fast health interoperability resource (FHIR) format Open