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. 2015:216:795-9.

Extending the coverage of phenotypes in SNOMED CT through post-coordination

Ferdinand Dhombres  1 , Rainer Winnenburg  2 , James T Case  1 , Olivier Bodenreider  1
Affiliations

Extending the coverage of phenotypes in SNOMED CT through post-coordination

Ferdinand Dhombres et al. Stud Health Technol Inform. 2015.

Abstract

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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Figures

Figure 1
Figure 1
Levels of transformations for the 5,384 mappings between HPO and SNOMEDCT Classes (ORI : original HPO terms; R=Replace transformation; S=Split transformation; D0/D1= Demodification transformations)
See this image and copyright information in PMC

References

    1. Newton KM, Peissig PL, Kho AN, Bielinski SJ, Berg RL, Choudhary V, et al. Validation of electronic medical record-based phenotyping algorithms: results and lessons learned from the eMERGE network. J Am Med Inform Assoc JAMIA. 2013 Jun;20(e1):e147–54. - PMC - PubMed
    1. Hennekam RCM, Biesecker LG. Next-generation sequencing demands next-generation phenotyping. Hum Mutat. 2012 May;33(5):884–6. - PMC - PubMed
    1. Hamilton CM, Strader LC, Pratt JG, Maiese D, Hendershot T, Kwok RK, et al. The PhenX Toolkit: get the most from your measures. Am J Epidemiol. 2011 Aug 1;174(3):253–60. - PMC - PubMed
    1. Winnenburg R, Bodenreider O. Coverage of Phenotypes in Standard Terminologies. Proceedings of the Joint Bio-Ontologies and BioLINK ISMB’2014 SIG session “Phenotype Day.”; Boston, USA. 2014; pp. 41–4.
    1. Köhler S, Doelken SC, Mungall CJ, Bauer S, Firth HV, Bailleul-Forestier I, et al. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res. 2014 Jan;42(Database issue):D966–74. - PMC - PubMed

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