Disease classification

There are multiple classification systems for diseases. Projects like Unified Medical Language System or Disease Ontology are designed to provide a more unified system that connects different classification systems.

Common systems

• ICD (International Classification of Diseases) is the global standard for diagnostic health information and mortality statistics maintained by the World Health Organization (WHO).
• MeSH is defined for indexing and cataloging biomedical literature by the U.S. National Library of Medicine. It provides a hierarchical vocabulary thesaurus used for article indexing in databases like MEDLINE/PubMed. MeSH terms help organize medical knowledge and facilitate literature searches.
• Global Burden of Disease uses a modified cause list derived largely from ICD codes. the GBD classification is tailored to reflect global health metrics (like disability-adjusted life years, DALYs) and to capture the nuances of disease burden across different regions.
• SNOMED CT (Systematized Nomenclature of Medicine – Clinical Terms) is a multilingual clinical terminology for Electronic health record.

Crosswalks and mapping

Studies

• Evans2014attention
• Yegros-Yegros2020exploring
• GarciadelValle2019completing

Tools

NCBO BioPortal can be a useful tool for mapping. It has mapping API. NLM has MetaMap and Mapping Assistant.

Mesh2ICD10 project: https://github.com/tonifuc3m/Mesh2ICD10