UMLS CONCORDANCE FOR A
COMPREHENSIVE PATHOLOGY TEXT.

John H. Sinard, MD, PhD [1].
G. William Moore, MD, PhD [2,3,4].

From: Departments of Pathology, Yale University School of Medicine, New Haven, CT [1];
Baltimore VA Medical Center [2],
University of Maryland School of Medicine [3],
and The Johns Hopkins Medical Institutions, Baltimore, MD [4].

U. S. Government Work, published in:
the Johns Hopkins Autopsy Resource,
www.netautopsy.org



TABLE OF CONTENTS.


1. ABSTRACT.
2. INTRODUCTION.
3. DESIGN.
4. UNIFIED MEDICAL LANGUAGE SYSTEM.
5. REDUNDANT INDEXING OF SUBCONCEPTS.
6. BARRIER WORD METHOD.
7. BARRIER WORD METHOD: SAMPLE TEXT.
8. AMBIGUITIES IN UMLS.
9. RESULTS.
10. DISCUSSION.
11. FUTURE DIRECTIONS: SYNONYMS FOR UMLS.
12. REFERENCES.
13. ZIPF DISTRIBUTION OF UMLS CUIS.
14. ZIPF DISTRIBUTION OF UNMATCHED WORDS.
15. ZIPF DISTRIBUTION OF COLLOCATIONS.
16. ADDITIONAL REFERENCES.


1. ABSTRACT.

UMLS CONCORDANCE FOR A
COMPREHENSIVE PATHOLOGY TEXT.


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John H. Sinard, MD, PhD [1].
G. William Moore, MD, PhD [2,3,4]. From: Department of Pathology, Yale University School of Medicine, New Haven, CT [1];
Pathology and Laboratory Medicine Service (113) Baltimore VA Medical Center [2],
Department of Pathology, University of Maryland School of Medicine [3],
Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD [4].

      Background: The Unified Medical Language System (UMLS) of the U. S. National Library of Medicine is the world's largest system of medical concepts, with over 700,000 concept-unique-identifers (CUIs), 1.5 million synonyms, and partial translations into over twenty languages in the year 2000 edition. We sought to determine the inclusiveness of the UMLS for concepts in pathology by building a concordance to a popular review text in pathology.

      Design: A distribution of single words, as well as multiple-word terms (collocations), was obtained for the electronic text of Sinard's Outlines in Pathology by the Barrier Word Method, a method employed in automated Medline indexing. Exact matches were made to the synonym-field in the UMLS Metathesaurus, and additional approximate matches were obtained manually.

      Results: The input text was 951 KB, with 120,677 words, 11,240 of them distinct, ranging in frequency from 4,037 occurrences of 'of', to 4,512 words occurring only once, an average of 10.7 = 120,677/11,240 occurrences per word. There were 3,520 distinct collocations with exact or approximate UMLS matches. There were 77,498 (64.2%) exact matches to a UMLS synonym, and 33,348 (27.6%) additional, approximate matches to UMLS CUIs, resulting in 8.1% unmatched concepts.

      Conclusion: Results suggest that UMLS is a highly inclusive concept system for human pathology, with 91.9% exactly or approximately matched concepts in a comprehensive pathology outline. However, the UMLS is synonym-poor, and many synonyms must be added manually to accommodate pathology free-text. Thus, the UMLS appears to be a sufficiently rich concept system for inter-institutional exchange of pathology data.


2. INTRODUCTION.


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  • UNIFIED MEDICAL LANGUAGE SYSTEM METATHESAURUS (UMLS-M) OF THE U. S. NATIONAL LIBRARY OF MEDICINE (USNLM).

  • MOST COMPREHENSIVE, PUBLICLY-AVAILABLE LIST OF STANDARDIZED MEDICAL TERMINOLOGY IN THE WORLD.

  • WHAT IS THE CONCORDANCE RATE FOR GENERAL PATHOLOGY TEXT?



  • 3. DESIGN.


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  • SINARD'S OUTLINES IN PATHOLOGY. 25 CHAPTERS, POPULAR REVIEW TEXT FOR PATHOLOGY BOARDS.

  • ALL MAJOR AREAS OF ANATOMIC PATHOLOGY ARE COVERED.

  • COMPUTER-ENCODED INTO UMLS, WITH ENRICHED SYNONYM LIST.

  • CONCORDANCE: MEDICALLY-SIGNIFICANT TERM, PRESENT IN THE TEXTBOOK, AND ALSO CAPTURED BY ENCODING PROGRAM.

  • FALSE NEGATIVE: UMLS CONCEPT NOT PRESENT.

  • AMBIGUOUS TERMS AND COMPOUND TERMS CONTAINING SUBCONCEPTS INDEXED REDUNDANTLY.



  • 4. UNIFIED MEDICAL LANGUAGE SYSTEM (UMLS).


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  • UNIFIED MEDICAL LANGUAGE SYSTEM (UMLS) : DEVELOPED BY U.S. NATIONAL LIBRARY OF MEDICINE (USNLM) IN 1986.

  • PURPOSE: AID DEVELOPMENT OF SYSTEMS TO RETRIEVE ELECTRONIC BIOMEDICAL INFORMATION.

  • http://www.nlm.nih.gov/research/umls/

  • LAST UPDATED: January 1, 2000.

  • METATHESAURUS SIZE: 113,699,627 BYTES.

  • CONCEPT UNIQUE IDENTIFIERS (CUIs): 729,248, MAX=C0813178, RETIRED=83,930.

  • SYNONYMS: 1,598,176

  • OVER 50 SOURCE-VOCABULARIES.

  • OVER 20 PARTIAL TRANSLATIONS INTO FOREIGN LANGUAGES.



  • 5. REDUNDANT INDEXING OF SUBCONCEPTS.


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    CELLULAR BLUE NEVUS REDUNDANTLY INDEXED AS:


  • CELLULAR BLUE NEVUS (C0334448).

  • BLUE NEVUS (C0206736).

  • CELL (C0007634).

  • BLUE (C0332584).

  • NEVUS (C0027960).



  • 6. BARRIER WORD METHOD.


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  • NATURAL-LANGUAGE MEDICAL TEXT: SEQUENCE OF MEDICAL CONCEPTS SEPARATED BY GRAMMATICAL OBJECTS.

  • THE GRAMMATICAL OBJECTS, OR BARRIER WORDS: NUMERALS, PUNCTUATION, SINGLE LETTERS, ARTICLES, PREPOSITIONS, AND COMMON VERBS AND MODIFIERS.

  • MEDICAL CONCEPTS, OR KEYWORDS: ARE ONE-WORD OR MULTIPLE-WORD TERMS CONSISTING OF MEDICALLY SIGNIFICANT WORDS.



  • 7. BARRIER WORD METHOD: SAMPLE TEXT.


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    LICHEN SIMPLEX CHRONICUS . CHRONIC FORM of any of above with IRRITATION and TRAUMA . EPIDERMIS undergoes a PSORIASIFORM THICKENING but with an increased THICKNESS of the GRANULAR LAYER . SCARRING and BROADENING of DERMAL PAPILLAE .


  • barrier words in lower case.

  • KEYWORDS IN UPPER CASE.


  •                   TEXT NAME            UMLS CUI
       LICHEN SIMPLEX CHRONICUS            C0149922
                   CHRONIC FORM   C0205179 C0376315
                             of            C0456627
                            any            C0205392*
                             of            C0456627
                          above            C0205103
                           with            C0332287
                     IRRITATION            C0441718
                            and            C0332287*
                         TRAUMA            C0548346
                      EPIDERMIS            C0014518
                      undergoes
                              a            C0205447*
        PSORIASIFORM THICKENING  C0033860* C0332527
                            but            C0332287*
                           with            C0332287
                             an            C0205447*
                      increased            C0205216
                      thickness            C2005400
                             of            C0456627
                            the            C0205435*
                 GRANULAR LAYER   C0205247 C0205274*
                       SCARRING            C0036287
                            and            C0332287*
                     broadening            C0332464*
                             of            C0456627
                DERMAL PAPILLAE   C0221927 C0205312*
    






    8. AMBIGUITIES IN UMLS.


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  • ADNEXA WITHOUT NEARBY DISAMBIGUATING WORD:


  • SKIN ADNEXA (C0221943)

  • UTERINE ADNEXA (C0001575)

  • OCULAR ADNEXA (C0229243)



  • 9. RESULTS.


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  • INPUT TEXT: 951 KB, 25 CHAPTERS.

  • 120,677 WORDS, 11,240 DISTINCT WORDS,

  • FROM 4,037 OCCURRENCES OF 'OF', TO 4,512 WORDS OCCURRING ONLY ONCE.

  • AVERAGE: 10.7 = 120,677/11,240 OCCURRENCES PER WORD.

  • 3,520 DISTINCT COLLOCATIONS WITH EXACT OR APPROXIMATE UMLS MATCHES.

  • 77,498 (64.2%) EXACT MATCHES TO A UMLS SYNONYM, AND 33,348 (27.6%) ADDITIONAL, APPROXIMATE MATCHES TO UMLS CUIS,

  • 8.1% UNMATCHED CONCEPTS.



  • 10. DISCUSSION.


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  • CONCORDANCE RATE: 90.9%.

  • UNMATCHED CONCEPTS TENDED TO BE DESCRIPTIVE TERMS IN PATHOLOGY THAT CHARACTERIZE MICROSCOPIC FINDINGS.

  • UMLS IS A HIGHLY INCLUSIVE CONCEPT SYSTEM FOR PATHOLOGY.

  • HOWEVER, UMLS IS SYNONYM-POOR.

  • MANY SYNONYMS MUST BE ADDED MANUALLY.

  • UMLS: NEARLY-COMPREHENSIVE METATHESAURUS FOR PATHOLOGY TEXT.



  • 11. FUTURE DIRECTIONS:
    SOURCES FOR SYNONYMS.


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  • LEXICAL VARIANTS: NUCLEI ==> CELL NUCLEUS.

  • OBVIOUS SYNONYMS: CLUSTER ==> AGGREGATE.

  • OBVIOUS MISSPELLINGS: WILM'S ==> WILMS'.
    BRONCHITS ==> BRONCHITIS.

  • OBVIOUS CONTRACTIONS: ADDISON ==> ADDISON'S DISEASE.
    CUSHING ==> CUSHING'S DISEASE.
    SQUAMOUS ==> SQUAMOUS CELL.

  • COMPOUNDS: WITHOUT ==> NEGATIVE-WITH.



  • 12. REFERENCES.


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  • 1. UMLS Knowledge Sources. 11th edition. 2000. Documentation. National Institutes of Health. National Library of Medicine. Bethesda, Maryland 20854.

  • 2. College of American Pathologists. Systematized Nomenclature of Human and Veterinary Medicine (SNOMED International). College of American Pathologists, Northfield, IL, 1993.

  • 3. Moore GW, Berman JJ, Hanzlick RL, Buchino JJ, Hutchins GM.
    A prototype Internet autopsy database. 1625 consecutive fetal and neonatal autopsy facesheets spanning 20 years.
    Arch Pathol Lab Med. 1996 Aug;120(8):782-785.

  • 4. Moore GW, Miller RE, Hutchins GM. Indexing by MeSH titles of natural language pathology phrases identified on first encounter using the barrier word method.
    In: Scherrer JR, Côté RA, Mandil SH, eds. Computerized Natural Medical Language Processing for Knowledge Representation. Amsterdam: North-Holland; pp 29-39, 1989.

  • 5. Sinard JH.
    Outlines in Pathology.
    Philadelphia: WB Saunders. 1996.



    13. ZIPF DISTRIBUTION OF UMLS CUIS.


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       RANK  FREQUENCY                WORD       UMLS CUI 
          1      3,950                  of       C0456627
          2      2,591                  in       C0439203
          3      2,387                 and       C0332287*
          4      1,873                with       C0332287
          5      1,779                  to       C0332285*
          6      1,562                 the       C0205435*
          7      1,297                  or       C0332270*
          8      1,256               cells       C0007625
          9        904             usually       C0332183*
         10        899                cell       C0007634
         11        847                 may       C0806904
         12        711                  be       C0014121
         13        682                  by       C0336807
         14        681                most       C0205381
         15        604                 are       C0392148*
         16        537              common       C0205213
         17        521                  is       C0441912
         18        469               often       C0332181
         19        446                 can       C0808716
         20        439               tumor       C0027651
         21        435                 for       C0521117
         22        433               small       C0700320
         23        418                from       C0332285*
         24        406             disease       C0012633
         25        384                 but       C0332287*
         26        383           carcinoma       C0007095
         27        369                 not       C0205160*
         28        364                more       C0205171
         29        358                seen       C0205395
         30        344              tumors       C0027651
         31        334               large       C0549176
         32        333                type       C0332307
         33        322                 aka       C0332287*
         34        321                have       C0605770*
         35        307                  at       C0332285*
         36        298                  on       C0332285* 
         37        294                  as       C0003818
         38        269               which       C0043237*
         39        267                  no       C0205160*
         40        263              tissue       C0040300
         41        254            patients       C0030704
         42        248           malignant       C0205282
         43        245             present       C0392743
         44        242          associated       C0004083*
         45        240                also       C0332287*
         46        236             chronic       C0205179
         47        234                 all       C0444867
         48        232             lesions       C0221198
         49        226           prognosis       C0220901
         50        222                 age       C0001774
    




    14. ZIPF DISTRIBUTION
    OF UNMATCHED WORDS.


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       RANK  FREQUENCY                WORD
          1         48                cord      
          2         33               still      
          3         30          eventually      
          4         30                need      
          5         28               cords      
          6         27          palisading      
          7         27        particularly      
          8         26                must      
          9         25               plump      
         10         24           polygonal      
         11         24           represent      
         12         24             sharply      
         13         23         counterpart      
         14         23                germ      
         15         23                host      
         16         22       immunoblastic      
         17         22              remain      
         18         22              should      
         19         22             undergo      
         20         21              mantle      
         21         21          parenchyma      
         22         19                just      
         23         19               prone      
         24         19             unclear      
         25         18               villi      
         26         17      subendothelial      
         27         16               amino      
         28         16            arranged      
         29         16          background      
         30         16           excellent      
         31         16        intrahepatic      
         32         16         odontogenic      
         33         15              excess      
         34         15               glans      
         35         15              goblet      
         36         15                half      
         37         15           untreated      
         38         15             villous      
         39         14         independent      
         40         14               laden      
         41         14             outflow      
         42         14            subtypes      
         43         13             bundles      
         44         13              entity      
         45         13        extrahepatic      
         46         13      granulomatosis      
         47         13    intracytoplasmic      
         48         13          invariably      
         49         13           oncocytic      
         50         13          perineural      
    




    15. ZIPF DISTRIBUTION OF COLLOCATIONS.


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       RANK  FREQUENCY                   TERM     UMLS CUI 
          1        479                 of the     C0332285*
          2        244                 in the     C0332285*
          3        196        associated with     C0332281
          4        101                 due to     C0678226
          5         86            giant cells     C0017526
          6         82           plasma cells     C0032112
          7         78          smooth muscle     C0026843
          8         54            tumor cells     C0431085
          9         50                 type i     C0441729
         10         49     autosomal dominant     C0443147
         11         49             clear cell     C0229473
         12         49    well differentiated     C0205615
         13         44               into the     C0332285*
         14         44                type ii     C0441730
         15         41            soft tissue     C0225317
         16         39               gi tract     C0017189
         17         38       germinal centers     C0282491
         18         38              low grade     C0205080
         19         37             absence of     C0332197
         20         37    autosomal recessive     C0441748
         21         35      connective tissue     C0009780
         22         35    squamous metaplasia     C0025570
         23         34           spindle cell     C0682540
         24         34          squamous cell     C0221910
         25         33             bile ducts     C0005400
         26         33             within the     C0332285*
         27         32   chronic inflammation     C0021376
         28         32               from the     C0332285*
         29         31                foci of     C0205234
         30         31         poor prognosis     C0278252
         31         31            rather than     C0489693*
         32         31           well defined     C0442825
         33         30 differential diagnosis     C0220820
         34         30             giant cell     C0017526
         35         28      basement membrane     C0004799
         36         28         good prognosis     C0278250
         37         28             high grade     C0205082
         38         28          renal failure     C0035078
         39         27            bone marrow     C0005953
         40         27                in situ     C0444498
         41         26              bile duct     C0005400
         42         26            lymph nodes     C0154054
         43         26squamous cell carcinoma     C0007137
         44         25   rheumatoid arthritis     C0003873
         45         24              cell type     C0449475
         46         24           soft tissues     C0225317
         47         23               but also     C0332287*
         48         22          blood vessels     C0005847
         49         22     inflammatory cells     C0440752
         50         22               of these     C0332285*
    



    16. ADDITIONAL REFERENCES.


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    Diagn Mol Pathol. 1998 Aug;7(4):192-6. Review.
    PMID: 9917128
    PubMed Entry

    Berman JJ, Moore GW, Hutchins GM. Internet autopsy database.
    Hum Pathol. 1997 Apr;28(4):393-4. No abstract available.
    PMID: 9104935
    PubMed Entry

    Berman JJ, Moore GW.
    SNOMED-encoded surgical pathology databases: a tool for epidemiologic investigation.
    Mod Pathol. 1996 Sep;9(9):944-50.
    PMID: 8878028
    PubMed Entry

    Moore GW, Berman JJ, Hanzlick RL, Buchino JJ, Hutchins GM.
    A prototype Internet autopsy database. 1625 consecutive fetal and neonatal autopsy facesheets spanning 20 years.
    Arch Pathol Lab Med. 1996 Aug;120(8):782-5.
    PMID: 8718907
    PubMed Entry

    Berman JJ, Moore GW, Hutchins GM.
    Maintaining patient confidentiality in the public domain Internet Autopsy Database (IAD).
    Proc AMIA Annu Fall Symp. 1996;:328-32.
    PMID: 8947682
    PubMed Entry

    Berman JJ, Borkowski A, Rachocka H, Moore GW.
    Impact of unfunded research in medicine, pathology, and surgery.
    South Med J. 1995 Mar;88(3):295-9.
    PMID: 7886525
    PubMed Entry

    Berman JJ, Moore GW.
    Image analysis software for the detection of preneoplastic and early neoplastic lesions.
    Cancer Lett. 1994 Mar 15;77(2-3):103-9.
    PMID: 8168056
    PubMed Entry

    Moore GW, Berman JJ.
    Performance analysis of manual and automated systemized nomenclature of medicine (SNOMED) coding.
    Am J Clin Pathol. 1994 Mar;101(3):253-6.
    PMID: 8135178
    PubMed Entry

    Berman JJ, Moore GW, Alonsozana EL, Mamo GF.
    Elevated prostate-specific antigen level and the negative prostate biopsy.
    South Med J. 1994 Feb;87(2):290-1. No abstract available.
    PMID: 7509507
    PubMed Entry

    Moore GW, Berman JJ.
    Automatic SNOMED coding.
    Proc Annu Symp Comput Appl Med Care. 1994;:225-9.
    PMID: 7949924
    PubMed Entry

    Berman JJ, Moore GW, Donnelly WH, Massey JK, Craig B.
    A SNOMED analysis of three years' accessioned cases (40,124) of a surgical pathology department: implications for pathology-based demographic studies.
    Proc Annu Symp Comput Appl Med Care. 1994;:188-92.
    PMID: 7949917
    PubMed Entry

    Berman JJ, Moore GW.
    The role of cell death in the growth of preneoplastic lesions: a Monte Carlo simulation model.
    Cell Prolif. 1992 Nov;25(6):549-557.
    PMID: 1457604
    PubMed Entry

    Berman JJ, Moore GW.
    Spontaneous regression of residual tumour burden: prediction by Monte Carlo simulation.
    nal Cell Pathol. 1992 Sep;4(5):359-68.
    PMID: 1445794
    PubMed Entry Borkowski A, Berman JJ, Moore GW. Research by pathologists not funded by external grant agencies: a success story. Mod Pathol. 1992 Sep;5(5):577-579. PMID: 1344824
    PubMed Entry

    Moore GW, Brown LA, Miller RE.
    Goedelization of a Pathology Database: Re-identification by Inference. (Abstract).
    Arch Pathol Lab Med. 2002 Jun;126:8xx.
    http://www.netautopsy.org/apep01go.htm

    Giere W, Moore GW.
    Goethe University Autopsy Register: Anonymized Bilingual Database. (Abstract).
    Arch Pathol Lab Med. 2002 Jun;126:8xx.
    http://www.netautopsy.org/apep01gu.htm

    Moore GW, Brown LA, Miller RE.
    Set Theory Definition and Algorithm for Medical De-Identification. (Abstract).
    Arch Pathol Lab Med. 2001 Jun;125:8xx.
    http://www.netautopsy.org/apep01st.htm

    Miller RE, Boitnott JK, Moore GW.
    Web-based Free-Text Query System for Surgical Pathology Reports with Automatic Case De-Identification. (Abstract).
    Arch Pathol Lab Med. 2001 Jun;125:8xx.
    http://www.netautopsy.org/apep01wb.htm

    Alonsozana GLG, Moore GW, Hutchins GM.
    UMLS Concordance for Human Embryology. (Abstract).
    Arch Pathol Lab Med. 2001 Jun;125:8xx.

    Sinard JH, Moore GW.
    UMLS Concordance for a Comprehensive Pathology Text.
    Arch Pathol Lab Med. 2001 Jun;125:8xx.

    Moore GW, Miller RE.
    Linguistic Inventory of the Johns Hopkins Surgical Pathology Database. (Abstract).
    Arch Pathol Lab Med. 2001 Jun;125:8xx.
    http://www.netautopsy.org/vhspapsx.htm

    Moore GW, Brenner DS, Berman JJ.
    Automatic Indexing of a Pathology Image Archive using UMLS. (Abstract).
    Arch Pathol Lab Med. 2000 Jun;124:809.
    http://www.netautopsy.org/apep99im.htm

    Kao GF, Moore GW.
    Dermatopathology False Negative Terms in UMLS. (Abstract).
    Arch Pathol Lab Med. 2000 Jun;124:809.
    http://www.netautopsy.org/apep99dr.htm

    Nonaka D, Moore GW, Satomura Y.
    Japanese Language Annotation of an Internet Pathology Image Archive. (Abstract).
    Arch Pathol Lab Med. 2000 Jun;124:820.
    http://www.netautopsy.org/apep99jp.htm

    Moore GW, Vardar E, Erozan YS, Durmusoglu F.
    Turkish Language Annotation of an Internet Pathology Image Archive. (Abstract).
    Arch Pathol Lab Med. 2000 Jun;124:820.
    http://www.netautopsy.org/apep99tk.htm

    Moore GW, Brown LA, Miller RE.
    Gödelization of a Pathology Database. Re-identification by Inference. (Abstract).
    Arch Pathol Lab Med. 2002 Jun;126:.
    http://www.netautopsy.org/apep01go.htm

    Giere W, Moore GW, Hutchins GM.
    Goethe University Autopsy Register: Anonymous Bilingual Database. (Abstract).
    Arch Pathol Lab Med. 2002 Jun;126:.
    http://www.netautopsy.org/apep01gu.htm

    Moore GW, Brown LA, Burger RH, Hutchins GM, Miller RE.
    Modal Logic Theory for Pathology Inference. (Abstract).
    Arch Pathol Lab Med. 2004 Jun;128:.
    http://www.netautopsy.org/modlthry.htm

    Moore GW, Brown LA, Burger RH, Kao GF, Hutchins GM, Miller RE.
    Spreadsheet Order Logic for Pathology Inference. (Abstract).
    Arch Pathol Lab Med. 2005 Jun;129:.
    http://www.netautopsy.org/ordrlogc.htm

    Moore GW, Struble RA, Brown LA, Kao GF, Hutchins GM.
    Infinite Papilloma: Model for Unbounded Tumor Growth. (Abstract).
    Arch Pathol Lab Med. 2006 Jun;130:898.
    http://www.netautopsy.org/infnpapl.htm

    Moore GW, Struble RA, Brown LA, Kao GF, Hutchins GM.
    Cell Surface Tessellation: Model for Malignant Growth. (Abstract).
    Arch Pathol Lab Med. 2007 Jun;131:.
    http://www.netautopsy.org/celltess.htm



    Last revised: 1/3/2007, G. William Moore, MD, PhD.