Skip to main content

Knowledge Engineering in Construction of Expert Systems on Hereditary Diseases

  • Conference paper
  • First Online:
Artificial Intelligence (RCAI 2018)

Part of the book series: Communications in Computer and Information Science ((CCIS,volume 934))

Included in the following conference series:

Abstract

The paper considers medical knowledge extraction for the diagnosis of rare hereditary diseases. The specific feature of the proposed approach is the combination of expert estimates of the symptom presence probability with three complementary factors of confidence: time of manifestation, severity and frequency of symptom manifestation in different age ranges. Preliminary textological cards used by experts and cognitive scientists are formed based on the linguistic analysis of related literature.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 39.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Schieppati, A., Henter, J.I., Daiana, E., Aperia, A.: Why rare diseases are an important medical and social issue. Lancet 371(9629), 2039–2041 (2008)

    Article  Google Scholar 

  2. Online Mendelian Inheritance in Man® An Online Catalog of Human Genes and Genetic Disorders. https://www.omim.org/. Accessed 30 Mar 2018

  3. Ayme, S., Caraboenf, M., Gouvernet, J.: GENDIAG: a computer assisted syndrome identification system. Clin. Genet. 28(5), 410–411 (1985)

    Google Scholar 

  4. Pitt, D.B., Bankier, A., Haan, E.A.: A visual verbal computer assisted syndrome identification system. Aust. Paediat. J. 21(4), 306–307 (1985)

    Google Scholar 

  5. POSSUM web 2018. Pictures of Standard Syndromes and Undiagnosed Malformations. https://www.possum.net.au/. Accessed 15 Apr 2018

  6. Kobrinsky, B., Kazantseva, L., Feldman, A., Veltishchev, J.: Computer diagnosis of hereditary childhood diseases. Med. Audit News 4(1), 52–53 (1991)

    Google Scholar 

  7. Guest, S.S., Evans, C.D., Winter, R.M.: The online London dysmorphology database. Genet. Med. 5(1), 207–212 (1999)

    Article  Google Scholar 

  8. Baraitser, M., Winter, R.M.: London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM, 3rd edn. Oxford University Press, Oxford (2001)

    Google Scholar 

  9. Ayme, S.: Orphanet, an information site on rare diseases. Soins 672, 46–47 (2003)

    Google Scholar 

  10. La Marca, G.: Lysosomals. In: Blau, N., Duran, M., Gibson, K.M., Vici, C.D. (eds.) Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, pp. 785–793. Springer, Heidelberg. (2014). https://doi.org/10.1007/978-3-642-40337-8_52

    Chapter  Google Scholar 

  11. Kobrinskii, B.A.: Approaches to the construction of cognitive linguistic–image models of knowledge representation for medical intelligent systems. Sci. Tech. Inf. Process. 43(5–6), 289–295 (2016)

    Article  Google Scholar 

  12. Zadeh, L.A.: Toward a theory of fuzzy information granulation and its centrality in human reasoning and fuzzy logic. Fuzzy Sets Syst. 90(2), 111–127 (1997)

    Article  MathSciNet  Google Scholar 

  13. Zadeh, L.A.: Fuzzy sets as a basis for a theory of possibility. Fuzzy Sets Syst. 1(1), 3–28 (1978)

    Article  MathSciNet  Google Scholar 

  14. Quinlan, J.R.: C4.5: Programs for Machine Learning. Morgan Kaufmann Publishers Inc., San Mateo (1993)

    Google Scholar 

  15. Malik, D.S., Mordeson, J.N.: Fuzzy Discrete Structures. Physica-Verlag, New York (2000)

    Book  Google Scholar 

  16. Petrovsky, A.B.: Multi-attribute classification of credit cardholders: multiset approach. Int. J. Manage. Decis. Mak. 7(2/3), 166–179 (2006)

    Google Scholar 

  17. Torres, A., Nieto, J.J.: Fuzzy logic in medicine and bioinformatics. J. Biomed. Biotechnol. 2006(2), 1–7 (2006)

    Article  Google Scholar 

  18. Prasath, V., Lakshmi, N., Nathiya, M., Bharathan, N., Neetha, N.P.: A survey on the applications of fuzzy logic in medical diagnosis. Int. J. Sci. Eng. Res. 4(4), 1199–1203 (2013)

    Google Scholar 

  19. Popper, K.: Knowledge and the Body-Mind Problem: In Defence of Interaction. Routledge, Abingdon (2013)

    Google Scholar 

  20. Shortliffe, E.H., Buchanan, B.G.: A model of inexact reasoning in medicine. In: Buchanan, B.G., Shortliffe, E.H. (eds.) Rule-Based Expert Systems: The MYCIN Experiments of the Stanford Heuristic Programming Project, pp. 233–262. Addison-Wesley Publishing Company, London (1984)

    Google Scholar 

  21. Gavrilova, T., Leshcheva, I.: The interplay of knowledge engineering and cognitive psychology: learning ontologies creating. Int. J. Knowl. Learn. 10(2), 182–197 (2015)

    Article  Google Scholar 

  22. Kobrinskii, B.: Expert reflection in the process of diagnosis of diseases at the extraction of knowledge. In: Proceedings of the IV International research conference “Information technologies in Science, Management, Social sphere and Medicine” (ITSMSSM 2017), vol. 72, pp. 321–323. Atlantis Press, Paris (2017)

    Google Scholar 

  23. Rat, A., Olry, A., Dhombres, F., Brandt, M.M., Urbero, B., Ayme, S.: Representation of rare diseases in health information systems: the orphanet approach to serve a wide range of end users. Hum. Mutat.: Var. Inf. Dis. Special Issue: Deep Phenotyp. Precis. Med. 33(5), 803–808 (2012)

    Google Scholar 

  24. Hammond, P., et al.: 3D analysis of facial morphology. Am. J. Med. Genet. 126A(4), 339–348 (2004)

    Article  Google Scholar 

  25. Hammond, P., et al.: Discriminating power of localized three-dimensional facial morphology. Am. J. Hum. Genet. 77(6), 999–1010 (2005)

    Article  Google Scholar 

  26. Vardell, E., Bou-Crick, C.: VisualDx: a visual diagnostic decision support tool. Med. Ref. Serv. Q. 31(4), 414–424 (2012)

    Article  Google Scholar 

  27. Kuru, K., Niranjan, M., Tunca, Y., Osvank, E., Azim, T.: Biomedical visual data analysis to build an intelligent diagnostic decision support system in medical genetics. Artif. Intell. Med. 62(2), 105–118 (2014)

    Article  Google Scholar 

  28. Ferry, Q., et al.: Diagnostically relevant facial gestalt information from ordinary photos. eLife 3, e02020 (2014). https://doi.org/10.7554/eLife.02020

    Article  Google Scholar 

  29. Robinson, P.N., Köhler, S., Bauer, S., Seelow, D., Horn, D., Mundlos, S.: The human phenotype ontology: a tool for annotating and analyzing human hereditary disease. Am. J. Hum. Genet. 83, 610–615 (2008)

    Article  Google Scholar 

  30. Köhler, S., et al.: Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am. J. Hum. Genet. 4(85), 457–464 (2009)

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Boris A. Kobrinskii .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2018 Springer Nature Switzerland AG

About this paper

Check for updates. Verify currency and authenticity via CrossMark

Cite this paper

Kobrinskii, B.A., Demikova, N.S., Blagosklonov, N.A. (2018). Knowledge Engineering in Construction of Expert Systems on Hereditary Diseases. In: Kuznetsov, S., Osipov, G., Stefanuk, V. (eds) Artificial Intelligence. RCAI 2018. Communications in Computer and Information Science, vol 934. Springer, Cham. https://doi.org/10.1007/978-3-030-00617-4_4

Download citation

  • DOI: https://doi.org/10.1007/978-3-030-00617-4_4

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-00616-7

  • Online ISBN: 978-3-030-00617-4

  • eBook Packages: Computer ScienceComputer Science (R0)

Publish with us

Policies and ethics