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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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| Veröffentlicht in: | AMIA Annu Symp Proc |
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| Hauptverfasser: | , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
American Medical Informatics Association
2015
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4765596/ https://ncbi.nlm.nih.gov/pubmed/26958175 |
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