Session ID: 

Recording of Clinical Phenotypes Using SNOMED CT and FHIR

1:00pm - 2:00pm Thursday, March 12
Orlando - Orange County Convention Center


SNOMED CT and FHIR have been used together in a genomics pilot in Queensland, Australia to assess the utility of collecting clinical phenotypic data from EHRs. The presentation provides the results of the pilot study. The results of which have been reviewed by clinicians for accuracy and quality, and provide a positive and useful exploration into how detailed clinical data can be extracted from EHRs to inform genomics research and future precision medicine endeavors. The pilot has created a FHIR value set of SNOMED CT content for phenotype findings, which can be used and further developed to provide a future data collection derivative. The pilot is important, as it provides a direct link for genomic researchers into granular data currently held within EHRs, which is currently difficult to access, but is essential to support future developments in the genomics area globally.

Learning Objectives

  • Describe SNOMED CT utility in terms of supporting the collection and distribution of Genomics data from electronic health records (EHRS)
  • Identify how SNOMED CT can be used within FHIR resources to accurately record phenotypic findings for use within healthcare and research systems, both in real time and for data analytic purposes
  • Illustrate how SNOMED CT content has been leveraged to collect phenotypic data from electronic health records (EHRS)
  • Demonstrate how clinical quality assurance processes have been implemented to ensure accuracy of clinical data collection and transport and how these have been leveraged to enhance SNOMED CT coverage of phenotypic findings
  • Outline future genomic pilot activities which will aim to further enhance the development of SNOMED CT content, and the development of detailed implementation guidance for the use of FHIR messages to support the collection and distribution of clinical phenotype data


Chief Executive Officer,
Australian e-Health Research Centre, CSIRO
Customer Relations Lead Europe,
SNOMED International

Continuing Education Credits



Data Scientist
Information Management Professional
Research and Development Professional