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

Research output: Contribution to journalArticleAcademicpeer-review

6 Citations (Scopus)
Original languageEnglish
Pages (from-to)967-973
JournalHuman Mutation
Volume34
Issue number7
DOIs
Publication statusPublished - Jul 2013

Keywords

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

Cite this

Sollie, A., Sijmons, R. H., Lindhout, D., van der Ploeg, A. T., Gozalbo, M. E. R., Smit, G. P. A., Verheijen, F., Waterham, H. R., van Weely, S., Wijburg, F. A., Wijburg, R., & Visser, G. (2013). 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, 34(7), 967-973. https://doi.org/10.1002/humu.22316