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Updated: Apr 5, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Extending the coverage of phenotypes in SNOMED CT through post-coordination
Ferdinand Dhombres1, Rainer Winnenburg2, James T Case1
1Lister Hill National Center for Biomedical Communications, National Library of Medicine, Bethesda, MD, USA.
Objectives:
To extend the coverage of phenotypes in SNOMED CT through post-coordination.
Methods:
We identify frequent modifiers in terms from the Human Phenotype Ontology (HPO), which we associate with templates for post-coordinated expressions in SNOMED CT.
Results:
We identified 176 modifiers, created 12 templates, and generated 1,617 post-coordinated expressions.
Conclusions:
Through this novel approach, we can increase the current number of mappings by 50%.
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