Plain-language medical vocabulary for precision diagnosis

Nicole A Vasilevsky^{1

2}, Erin D Foster³, Mark E Engelstad⁴, Leigh Carmody⁵, Matt Might⁶, Chip Chambers⁷, Hugh J S Dawkins⁸, Janine Lewis⁹, Maria G Della Rocca⁹, Michelle Snyder⁹, Cornelius F Boerkoel¹⁰, Ana Rath¹¹, Sharon F Terry¹², Alastair Kent¹³, Beverly Searle¹⁴, Gareth Baynam¹⁵, Erik Jones¹⁶, Pam Gavin¹⁷, Michael Bamshad¹⁸, Jessica Chong¹⁸, Tudor Groza¹⁹, David Adams²⁰, Adam C Resnick²¹, Allison P Heath²¹, Chris Mungall²², Ingrid A Holm²³, Kayli Rageth¹⁰, Catherine A Brownstein²³, Kent Shefchek¹, Julie A McMurry¹, Peter N Robinson⁵, Sebastian Köhler²⁴, Melissa A Haendel^{25

26

27}

Affiliations

¹ Oregon Clinical & Translational Research Institute, Oregon Health & Science University, Portland, OR, USA.
² Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR, USA.
³ School of Dentistry, Oregon Health & Science University, Portland, OR, USA.
⁴ School of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
⁵ Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
⁶ Undiagnosed Disease Network, Boston, MA, USA.
⁷ School of Medicine, Vanderbilt University, Nashville, TN, USA.
⁸ Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
⁹ National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center, Bethesda, MD, USA.
¹⁰ Sanford Health Imagenetics, Sioux Falls, SD, USA.
¹¹ Orphanet, Paris, France.
¹² Genetic Alliance, Washington, DC, USA.
¹³ Genetic Alliance UK, London, UK.
¹⁴ Unique, Oxted, UK.
¹⁵ Medical School, University of Western Australia, Perth, Western Australia, Australia.
¹⁶ Inspire, Arlington, VA, USA.
¹⁷ National Organization for Rare Disorders, Quincy, MA, USA.
¹⁸ Department of Pediatrics, University of Washington, Seattle, WA, USA.
¹⁹ Kinghorn Centre for Clinical Genomics, Garvan Institute, Sydney, New South Wales, Australia.
²⁰ Undiagnosed Disease Program, Bethesda, MD, USA.
²¹ Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
²² Lawrence Berkeley National Laboratory, Berkeley, CA, USA.
²³ Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
²⁴ NeuroCure Cluster of Excellence, Charité-Universitätsmedizin Berlin, Berlin, Germany.
²⁵ Oregon Clinical & Translational Research Institute, Oregon Health & Science University, Portland, OR, USA. haendel@ohsu.edu.
²⁶ Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR, USA. haendel@ohsu.edu.
²⁷ Linus Pauling Institute, Oregon State University, Corvallis, OR, USA. haendel@ohsu.edu.

PMID: 29632381
PMCID: PMC6258202
DOI: 10.1038/s41588-018-0096-x

Plain-language medical vocabulary for precision diagnosis

Nicole A Vasilevsky et al. Nat Genet. 2018 Apr.

. 2018 Apr;50(4):474-476.

doi: 10.1038/s41588-018-0096-x.

Authors

Affiliations

¹ Oregon Clinical & Translational Research Institute, Oregon Health & Science University, Portland, OR, USA.
² Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR, USA.
³ School of Dentistry, Oregon Health & Science University, Portland, OR, USA.
⁴ School of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
⁵ Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
⁶ Undiagnosed Disease Network, Boston, MA, USA.
⁷ School of Medicine, Vanderbilt University, Nashville, TN, USA.
⁸ Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
⁹ National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center, Bethesda, MD, USA.
¹⁰ Sanford Health Imagenetics, Sioux Falls, SD, USA.
¹¹ Orphanet, Paris, France.
¹² Genetic Alliance, Washington, DC, USA.
¹³ Genetic Alliance UK, London, UK.
¹⁴ Unique, Oxted, UK.
¹⁵ Medical School, University of Western Australia, Perth, Western Australia, Australia.
¹⁶ Inspire, Arlington, VA, USA.
¹⁷ National Organization for Rare Disorders, Quincy, MA, USA.
¹⁸ Department of Pediatrics, University of Washington, Seattle, WA, USA.
¹⁹ Kinghorn Centre for Clinical Genomics, Garvan Institute, Sydney, New South Wales, Australia.
²⁰ Undiagnosed Disease Program, Bethesda, MD, USA.
²¹ Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
²² Lawrence Berkeley National Laboratory, Berkeley, CA, USA.
²³ Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
²⁴ NeuroCure Cluster of Excellence, Charité-Universitätsmedizin Berlin, Berlin, Germany.
²⁵ Oregon Clinical & Translational Research Institute, Oregon Health & Science University, Portland, OR, USA. haendel@ohsu.edu.
²⁶ Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR, USA. haendel@ohsu.edu.
²⁷ Linus Pauling Institute, Oregon State University, Corvallis, OR, USA. haendel@ohsu.edu.

PMID: 29632381
PMCID: PMC6258202
DOI: 10.1038/s41588-018-0096-x

No abstract available

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Figures

**Figure 1:. HPO pipeline.**
a, Coverage of HPO terms with plain-language synonyms (terms broken down by anatomical system), b, A physician and a patient describe a patient’s phenotype profile in different ways but with the same meaning. This constellation of diverse phenotypes is common in Marfan syndrome; each has a plain-language equivalent. c, A sub-branch of eye phenotypes within the HPO. Terms are structured rigorously, not only in terms of hierarchy (as shown) but also in terms of logical definitions (not shown).

See this image and copyright information in PMC

References

1. Epstein D The muscular dystrophy patient and Olympic medalist with the same genetic disorder. ProPublica (15 January 2016).
1. Yang Y et al. N. Engl. J. Med 369, 1502–1511 (2013). - PMC - PubMed
1. Köhler S et al. Nucleic Acids Res. 45 (D1), D865–D876 (2017). - PMC - PubMed
1. Posey JE et al. Genet. Med 18, 678–685 (2016). - PMC - PubMed
1. Bone WP et al. Genet. Med 18, 608–617 (2016). - PMC - PubMed

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Plain-language medical vocabulary for precision diagnosis

Affiliations

Plain-language medical vocabulary for precision diagnosis

Authors

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