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Coverage of Rare Disease Names in Standard Terminologies and Implications for Patients, Providers, and Research

Small numbers of patients are a special challenge for rare diseases research. Electronic health record (EHR) data can facilitate research if patients with rare diseases can be reliably identified. We estimate the coverage of the names of a set of 6,519 rare diseases. Using the UMLS, 697 (11%) diseas...

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Dades bibliogràfiques
Publicat a:AMIA Annu Symp Proc
Autors principals: Fung, Kin Wah, Richesson, Rachel, Bodenreider, Olivier
Format: Artigo
Idioma:Inglês
Publicat: American Medical Informatics Association 2014
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4419993/
https://ncbi.nlm.nih.gov/pubmed/25954361
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