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.

A. Sollie; R.H. Sijmons; D. Lindhout; AT van der Ploeg; M.E. Rubio-Gozalbo; G.P. Smit; F. Verheijen; H.R. Waterham; S van Weely; F.A. Wijburg; R. Wijburg; G. Visser

doi:10.1002/humu.22316

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.

A. Sollie
, R.H. Sijmons
, D. Lindhout
, AT van der Ploeg
, M.E. Rubio-Gozalbo
, G.P. Smit
, F. Verheijen
, H.R. Waterham
, S van Weely
, F.A. Wijburg
, R. Wijburg
, G. Visser

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	967-973
Number of pages	7
Journal	Human Mutation
Volume	34
Issue number	7
DOIs	https://doi.org/10.1002/humu.22316
Publication status	Published - 2013

Keywords

Econometric and Statistical Methods: General
Geneeskunde (GENK)
Geneeskunde(GENK)
Medical sciences
Bescherming en bevordering van de menselijke gezondheid

Access to Document

10.1002/humu.22316

http://www.ncbi.nlm.nih.gov/pubmed/23504699

Cite this

Sollie, A., Sijmons, R. H., Lindhout, D., van der Ploeg, AT., Rubio-Gozalbo, M. E., Smit, G. P., 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

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author = "A. Sollie and R.H. Sijmons and D. Lindhout and \{van der Ploeg\}, AT and M.E. Rubio-Gozalbo and G.P. Smit and F. Verheijen and H.R. Waterham and \{van Weely\}, S and F.A. Wijburg and R. Wijburg and G. Visser",

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Sollie, A, Sijmons, RH, Lindhout, D, van der Ploeg, AT, Rubio-Gozalbo, ME, Smit, GP, Verheijen, F, Waterham, HR, van Weely, S, Wijburg, FA, 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, vol. 34, no. 7, pp. 967-973. https://doi.org/10.1002/humu.22316

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. / Sollie, A.; Sijmons, R.H.; Lindhout, D. et al.
In: Human Mutation, Vol. 34, No. 7, 2013, p. 967-973.

Research output: Contribution to journal › Article › Academic › peer-review

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AU - van der Ploeg, AT

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AU - Visser, G.

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