Article
A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing.
Human mutation - 1 Jul 2013
Sollie Annet, Sijmons Rolf H, Lindhout Dick, van der Ploeg Ans T, Rubio Gozalbo M Estela, Smit G Peter A, Verheijen Frans, Waterham Hans R, van Weely Sonja, Wijburg Frits A, Wijburg Rudolph, Visser Gepke
Abstract excerpt
Data sharing is essential for a better understanding of genetic disorders. Good phenotype coding plays a key role in this process. Unfortunately, the two most widely used coding systems in medicine, ICD-10 and SNOMED-CT, lack information necessary for the detailed classification and annotation of rare and genetic disorders. This prevents the optimal registration of such patients in databases and thus data-sharing...
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