Effect of vocabulary mapping for conditions on phenotype cohorts

J Am Med Inform Assoc. 2018 Dec 1;25(12):1618-1625. doi: 10.1093/jamia/ocy124.

Abstract

Objective: To study the effect on patient cohorts of mapping condition (diagnosis) codes from source billing vocabularies to a clinical vocabulary.

Materials and methods: Nine International Classification of Diseases, Ninth Revision, Clinical Modification (ICD9-CM) concept sets were extracted from eMERGE network phenotypes, translated to Systematized Nomenclature of Medicine - Clinical Terms concept sets, and applied to patient data that were mapped from source ICD9-CM and ICD10-CM codes to Systematized Nomenclature of Medicine - Clinical Terms codes using Observational Health Data Sciences and Informatics (OHDSI) Observational Medical Outcomes Partnership (OMOP) vocabulary mappings. The original ICD9-CM concept set and a concept set extended to ICD10-CM were used to create patient cohorts that served as gold standards.

Results: Four phenotype concept sets were able to be translated to Systematized Nomenclature of Medicine - Clinical Terms without ambiguities and were able to perform perfectly with respect to the gold standards. The other 5 lost performance when 2 or more ICD9-CM or ICD10-CM codes mapped to the same Systematized Nomenclature of Medicine - Clinical Terms code. The patient cohorts had a total error (false positive and false negative) of up to 0.15% compared to querying ICD9-CM source data and up to 0.26% compared to querying ICD9-CM and ICD10-CM data. Knowledge engineering was required to produce that performance; simple automated methods to generate concept sets had errors up to 10% (one outlier at 250%).

Discussion: The translation of data from source vocabularies to Systematized Nomenclature of Medicine - Clinical Terms (SNOMED CT) resulted in very small error rates that were an order of magnitude smaller than other error sources.

Conclusion: It appears possible to map diagnoses from disparate vocabularies to a single clinical vocabulary and carry out research using a single set of definitions, thus improving efficiency and transportability of research.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Humans
  • International Classification of Diseases*
  • Observational Studies as Topic
  • Systematized Nomenclature of Medicine*
  • Vocabulary, Controlled