NCBI Researchers Help Identify New Syndrome and Gene Mutation

An international team of scientists including researchers from the National Center for Biotechnology Information (NCBI), a part of the National Library of Medicine, have discovered a new syndrome associated with severe congenital neutropenia (SCN), a rare disorder in which children lack sufficient infection-fighting white cells. The scientists also identified the genetic cause of the syndrome:…

New IHTSDO Groups Help SNOMED CT Users Develop Tool

The International Health Terminology Standards Organization (IHTSDO), recently announced the formation of two new groups, The Affiliate Forum and the Implementation Special Interest Group (SIG), to contribute to the ongoing development of the Systemized Nomenclature of Medicine Clinical Terms (SNOMED CT) systems. The Forum will enable users worldwide to exchange information on how best to…