Login / Signup

The interoperability between the Spanish version of the International Classification of Diseases and ORPHAcodes: towards better identification of rare diseases.

Juan RicoLuis Javier Echevarría-González de GaribayMaría García-LópezSandra Guardiola-VilarroigLuis Alberto Maceda-RoldánÓscar ZurriagaClara Cavero-Carbonell
Published in: Orphanet journal of rare diseases (2021)
ICD-10-ES codes have not enough specificity to identify rare diseases. Direct mapping between ICD and ORPHAcodes or the integration of ORPHAcodes at the healthcare system for diagnoses codification would enable better detection and epidemiological analysis of rare diseases.
Keyphrases
  • machine learning
  • deep learning
  • electronic health record
  • bioinformatics analysis