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, RH Sijmons, D (Dick) Lindhout, Ans van der Ploeg, MER Gozalbo, GPA Smit, Frans Verheijen, HR Waterham, S van Weely, FA Wijburg, R Wijburg, G Visser

Research output: Contribution to journalArticleAcademicpeer-review

9 Citations (Scopus)
Original languageUndefined/Unknown
Pages (from-to)967-973
Number of pages7
JournalHuman Mutation
Volume34
Issue number7
DOIs
Publication statusPublished - 2013

Research programs

  • EMC MGC-02-96-01
  • EMC MM-01-54-01

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