title: 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.
abstract: 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 efforts. To improve care and to facilitate research for patients with metabolic disorders, we developed a new coding system for metabolic diseases with a dedicated group of clinical specialists. Next, we compared the resulting codes with those in ICD and SNOMED-CT. No matches were found in 76% of cases in ICD-10 and in 54% in SNOMED-CT. We conclude that there are sizable gaps in the SNOMED-CT and ICD coding systems for metabolic disorders. There may be similar gaps for other classes of rare and genetic disorders. We have demonstrated that expert groups can help in addressing such coding issues. Our coding system has been made available to the ICD and SNOMED-CT organizations as well as to the Orphanet and HPO organizations for further public application and updates will be published online (www.ddrmd.nl and www.cineas.org).
authors.affiliation: Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. a.sollie@umcg.nl
authors.forename: Annet
authors.initials: A
authors.lastname: Sollie
authors.forename: Rolf H
authors.initials: RH
authors.lastname: Sijmons
authors.forename: Dick
authors.initials: D
authors.lastname: Lindhout
authors.forename: Ans T
authors.initials: AT
authors.lastname: van der Ploeg
authors.forename: M Estela
authors.initials: ME
authors.lastname: Rubio Gozalbo
authors.forename: G Peter A
authors.initials: GP
authors.lastname: Smit
authors.forename: Frans
authors.initials: F
authors.lastname: Verheijen
authors.forename: Hans R
authors.initials: HR
authors.lastname: Waterham
authors.forename: Sonja
authors.initials: S
authors.lastname: van Weely
authors.forename: Frits A
authors.initials: FA
authors.lastname: Wijburg
authors.forename: Rudolph
authors.initials: R
authors.lastname: Wijburg
authors.forename: Gepke
authors.initials: G
authors.lastname: Visser
mesh_terms: D059019:Clinical Coding; D005838:Genotype; D006801:Humans; D033181:Information Dissemination; D038801:International Classification of Diseases; D008659:Metabolic Diseases / Q000145:classification* / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D039061:Systematized Nomenclature of Medicine