Mendelian inheritance in man: diagnoses in the UMLS

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Publication Type pre-print
School or College School of Medicine
Department Biomedical Informatics
Creator Mitchell, Joyce A.
Other Author O'Keefe, Karen M.; Sievert, MaryEllen
Title Mendelian inheritance in man: diagnoses in the UMLS
Date 1993-01-01
Description Because they deal with many distinct but rare inheritance diseases, geneticists have difficulty translating from their codes to other biomedical coding schemes. The objective ofthis research was to investigate the potential uses and difficulties of using the UMLS Metathesaurus for genetic diagnoses and to make recommendations to UMLS developers for improvements in UMLS for common genetic disorders. The 110 most common Mendelian Inheritance in Man disorders from the Missouri Genetic Disease Program over the period of one year were translated into MeSH, ICD and SNOMED. The more common diseases are more likely to be mapped than the rarer ones. Diseases with a proven genetic inheritance pattern are more likely to be mapped than those with speculated inheritance patterns. Approximately one third of all diagnoses were not mapped across all three coding schemes in Meta-1. 2. The ICD coding scheme was found to be too broad to be meaningful for genetic diagnosis or epidemiological purposes. MeSH and SNOMED need to be made more specific and complete, and all of the new version of SNOMED needs to be included in the Metathesaurus.
Type Text
Publisher Institute of Electrical and Electronics Engineers (IEEE)
First Page 735
Last Page 739
Dissertation Institution University of Utah
Language eng
Bibliographic Citation OKeefe, K. M., Sievert, M., & Mitchell, J. A. (1993). Mendelian inheritance in man: diagnoses in the UMLS. Proc Annu Symp Comput Appl Med Care, 735-9.
Rights Management (c) 1993 IEEE. Personal use of this material is permitted. However, permission to reprint/republish this material for advertising or promotional purposes or for creating new collective works for resale or redistribution to servers or lists, or to reuse any copyrighted component of this work in other works must be obtained from the IEEE.
Format Medium application/pdf
Format Extent 853,972 bytes
Identifier uspace,17795
ARK ark:/87278/s63x8rd8
Setname ir_uspace
Date Created 2012-09-20
Date Modified 2021-05-06
ID 708127
Reference URL https://collections.lib.utah.edu/ark:/87278/s63x8rd8
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