Common terms for rare epilepsies: Synonyms, associated terms, and links to structured vocabularies

Zachary M. Grinspan, Niu Tian, Elissa G. Yozawitz, Patricia E. McGoldrick, Steven M. Wolf, Tiffani L. McDonough, Aaron Nelson, Baria Hafeez, Stephen B. Johnson, Dale C. Hesdorffer

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Identifying individuals with rare epilepsy syndromes in electronic data sources is difficult, in part because of missing codes in the International Classification of Diseases (ICD) system. Our objectives were the following: (1) to describe the representation of rare epilepsies in other medical vocabularies, to identify gaps; and (2) to compile synonyms and associated terms for rare epilepsies, to facilitate text and natural language processing tools for cohort identification and population-based surveillance. We describe the representation of 33 epilepsies in 3 vocabularies: Orphanet, SNOMED-CT, and UMLS-Metathesaurus. We compiled terms via 2 surveys, correspondence with parent advocates, and review of web resources and standard vocabularies. UMLS-Metathesaurus had entries for all 33 epilepsies, Orphanet 32, and SNOMED-CT 25. The vocabularies had redundancies and missing phenotypes. Emerging epilepsies (SCN2A-, SCN8A-, KCNQ2-, SLC13A5-, and SYNGAP-related epilepsies) were underrepresented. Survey and correspondence respondents included 160 providers, 375 caregivers, and 11 advocacy group leaders. Each epilepsy syndrome had a median of 15 (range 6–28) synonyms. Nineteen had associated terms, with a median of 4 (range 1–41). We conclude that medical vocabularies should fill gaps in representation of rare epilepsies to improve their value for epilepsy research. We encourage epilepsy researchers to use this resource to develop tools to identify individuals with rare epilepsies in electronic data sources.

Original languageEnglish (US)
Pages (from-to)91-97
Number of pages7
JournalEpilepsia Open
Volume3
Issue number1
DOIs
StatePublished - Jan 1 2018

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Vocabulary
Epilepsy
Unified Medical Language System
Systematized Nomenclature of Medicine
Information Storage and Retrieval
Natural Language Processing
Population Surveillance
International Classification of Diseases
Caregivers
Research Personnel

Keywords

  • Classification
  • Natural language processing
  • Rare epilepsy
  • Synonyms
  • Terminology

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Grinspan, Z. M., Tian, N., Yozawitz, E. G., McGoldrick, P. E., Wolf, S. M., McDonough, T. L., ... Hesdorffer, D. C. (2018). Common terms for rare epilepsies: Synonyms, associated terms, and links to structured vocabularies. Epilepsia Open, 3(1), 91-97. https://doi.org/10.1002/epi4.12095

Common terms for rare epilepsies : Synonyms, associated terms, and links to structured vocabularies. / Grinspan, Zachary M.; Tian, Niu; Yozawitz, Elissa G.; McGoldrick, Patricia E.; Wolf, Steven M.; McDonough, Tiffani L.; Nelson, Aaron; Hafeez, Baria; Johnson, Stephen B.; Hesdorffer, Dale C.

In: Epilepsia Open, Vol. 3, No. 1, 01.01.2018, p. 91-97.

Research output: Contribution to journalArticle

Grinspan, ZM, Tian, N, Yozawitz, EG, McGoldrick, PE, Wolf, SM, McDonough, TL, Nelson, A, Hafeez, B, Johnson, SB & Hesdorffer, DC 2018, 'Common terms for rare epilepsies: Synonyms, associated terms, and links to structured vocabularies', Epilepsia Open, vol. 3, no. 1, pp. 91-97. https://doi.org/10.1002/epi4.12095
Grinspan, Zachary M. ; Tian, Niu ; Yozawitz, Elissa G. ; McGoldrick, Patricia E. ; Wolf, Steven M. ; McDonough, Tiffani L. ; Nelson, Aaron ; Hafeez, Baria ; Johnson, Stephen B. ; Hesdorffer, Dale C. / Common terms for rare epilepsies : Synonyms, associated terms, and links to structured vocabularies. In: Epilepsia Open. 2018 ; Vol. 3, No. 1. pp. 91-97.
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