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SNOMED and the Monarch Initiative collaborate to develop two-way maps for HPO

February 2, 2023

London, United Kingdom and Colorado, United States – The Monarch Initiative has signed a five-year collaboration agreement with SNOMED International to develop maps from the clinical terminology SNOMED CT to Human Phenotype Ontology (HPO - a standardized vocabulary of phenotypic abnormalities encountered in human disease) and to HPO from SNOMED CT. 

HPO is a flagship product of the Monarch Initiative, a U.S. National Institutes of Health-supported international consortium dedicated to semantic integration of biomedical and model organism data with the ultimate goal of improving biomedical research, and an integrative data and analytic platform connecting phenotypes to genotypes across species, bridging basic and applied research with semantics-based analysis. It is also a central component of one of the 13 driver projects in the Global Alliance for Genomics and Health strategic roadmap.  

SNOMED CT is a comprehensive, multilingual healthcare terminology created for use by healthcare professionals to capture the care of individuals in an electronic health record (EHR) and facilitate sharing, decision support and analytics, to support safe and effective health information exchange. 

As part of the agreement, the organizations will work together to develop mapping conventions by which both maps will be created, along with use cases. Both organizations will also collaborate on quality assurance, promoting the maps to their respective stakeholders and defining and agreeing upon an ongoing maintenance and updating process and policy for the developed maps.  

SNOMED International CEO Don Sweete explains that the collaboration is a natural next step for the two organizations, both of which have recognized and discussed the steadily increasing interest in genomics over the past few years.  

“The development of maps to and from both ontologies will be extremely beneficial for both clinical interoperability and research in a domain that holds so much promise for the way we understand and treat hereditary and genetic conditions,” he said. “And as the largest global clinical terminology, SNOMED CT is well-positioned to enable advances in this domain.” 

Melissa Haendel, PhD, is Chief Research Informatics Officer at the University of Colorado Anschutz Medical Campus, one of the research institutions that’s spearheading the work of the Monarch Initiative.  

“Through the Monarch Initiative, our team is categorizing our collective knowledge and standardizing rare disease diagnoses worldwide,” said Dr. Haendel. “This work is also allowing researchers to globally compare disease phenotypes, as well as species, which can tell us a lot about how genetic defects affect humans.”  

Media Inquiries: 

Kelly KuruSNOMED International


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