Study documents shortcomings of the current International Disease Classifications ICD-10 and SNOMED-CT
In an published in Human Mutation the authors discuss the importance of data sharing and high quality phenotype coding for the understanding of rare disorders and highlight that “the two most widely used coding systems in medicine, ICD-10 and SNOMEDCT, lack information necessary for the detailed classification and annotation of rare and genetic disorders”. The authors emphasise that due to this, there is inefficient registration of such patients in databases which thwarts data-sharing efforts, which is essential for research and care of rare disease patients. The authors compared a new coding system that they developed for metabolic diseases with the help of a “dedicated group of clinical specialists” with those in ICD and SNOMED-CT and found no matches for a staggering 76% of cases in ICD-10 and 54% in SNOMED-CT. This led the authors to conclude that SNOMED-CT and ICD coding systems were grossly deficient for metabolic disorders and also stress that “there may be similar gaps for other classes of rare and genetic disorders”. source: orphanews
