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

Annet Sollie*, Rolf H. Sijmons, Dick Lindhout, Ans T. van der Ploeg, M. Estela Rubio Gozalbo, G. Peter A. Smit, Frans Verheijen, Hans R. Waterham, Sonja van Weely, Frits A. Wijburg, Rudolph Wijburg, Gepke Visser

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)967-973
JournalHuman Mutation
Issue number7
Publication statusPublished - Jul 2013


  • data sharing
  • rare diseases
  • ICD
  • ontology
  • phenotyping

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