Toward a Diagnosis Driven (Dental) Profession through Controlled Terminology

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1 Toward a Diagnosis Driven (Dental) Profession through Controlled Terminology James J. Cimino, MD Director, Informatics Institute University of Alabama at Birmingham Birmingham, Alabama, USA Los Angeles, CA March 19, 2016

2 What I will cover in this talk Why bother? Some history from the medical domain Some formal tactics to consider Looking ahead

3 Everyday Controlled Terminologies C:\> _

4 Controlled Terminologies in Biohealth

5 Common Terminology Features Preferred name Code Hierarchy Synonyms Cross-mappings Definitions Formal semantics

6 Value in capturing data with controlled terminology Capturing what the clinician wants to say Interoperability Reuse Maintenance

7 A little history Cimino JJ. Desiderata for controlled medical vocabularies in the Twenty-First Century. Methods of Information in Medicine; 1998;37(4-5):

8 Desiderata 101 Content: synonyms, structural considerations Concept oriented: nonvague, unambiguous, nonredundant Concept permanence: minor name changes only Meaningless identifiers: no mnemonics or code hierarchy Multiple hierarchy

9 ICD-10-CM: 51 Tuberculosis Codes + 10 hierarchy codes) A15 0 Respiratory tuberculosis A Tuberculosis of lung A Tuberculosis of intrathoracic lymph nodes A Tuberculosis of larynx, trachea and bronchus A Tuberculous pleurisy A Primary respiratory tuberculosis A Other respiratory tuberculosis A Respiratory tuberculosis unspecified A17 0 Tuberculosis of nervous system A Tuberculous meningitis A Meningeal tuberculoma A Other tuberculosis of nervous system A Tuberculoma of brain and spinal cord A Tuberculous meningoencephalitis A Tuberculous neuritis A Other tuberculosis of nervous system A Tuberculosis of nervous system, unspecified A18 0 Tuberculosis of other organs A Tuberculosis of bones and joints A Tuberculosis of spine A Tuberculous arthritis of other joints A Tuberculosis of other bones A Other musculoskeletal tuberculosis A Tuberculosis of genitourinary system A Tuberculosis of genitourinary system, unspecified A Tuberculosis of kidney and ureter A Tuberculosis of bladder A Tuberculosis of other urinary organs A Tuberculosis of prostate A Tuberculosis of other male genital organs A Tuberculosis of cervix A Tuberculous female pelvic inflammatory disease A Tuberculosis of other female genital organs A Tuberculous peripheral lymphadenopathy A Tuberculosis of intestines, peritoneum and mesenteric glands A Tuberculous peritonitis A Tuberculous enteritis A Retroperitoneal tuberculosis A Tuberculosis of skin and subcutaneous tissue A Tuberculosis of eye A Tuberculosis of eye, unspecified A Tuberculous episcleritis A Tuberculous keratitis A Tuberculous chorioretinitis A Tuberculous iridocyclitis A Other tuberculosis of eye A Tuberculosis of (inner) (middle) ear A Tuberculosis of adrenal glands A Tuberculosis of other specified organs A Tuberculosis of thyroid gland A Tuberculosis of other endocrine glands A Tuberculosis of digestive tract organs, NEC A Tuberculosis of heart A Tuberculosis of spleen A Tuberculosis of other sites A19 0 Miliary tuberculosis A Acute miliary tuberculosis of a single specified site A Acute miliary tuberculosis of multiple sites A Acute miliary tuberculosis, unspecified A Other miliary tuberculosis A Miliary tuberculosis, unspecified

10 13 Other Tuberculosis Codes + 3 more hierarchy codes) B90 B900 B901 B902 B908 B909 0 Sequelae of tuberculosis 1 Sequelae of central nervous system tuberculosis 1 Sequelae of genitourinary tuberculosis 1 Sequelae of tuberculosis of bones and joints 1 Sequelae of tuberculosis of other organs 1 Sequelae of respiratory and unspecified tuberculosis O980 0 Tuberculosis compl preg/chldbrth O Tuberculosis complicating pregnancy O Tuberculosis complicating pregnancy, first trimester O Tuberculosis complicating pregnancy, second trimester O Tuberculosis complicating pregnancy, third trimester O Tuberculosis complicating pregnancy, unspecified trimester O Tuberculosis complicating childbirth J65 P370 1 Pneumoconiosis associated with tuberculosis 1 Congenital tuberculosis Z Personal history of tuberculosis

11 What if ICD-10-CM was a Polyhierarchy? disease infectious disease lung disease cholera infectious disease in pregnancy meningitis tuberculosis tuberculosis in pregnancy

12 Desiderata 101 Content: synonyms, structural considerations Concept oriented: nonvague, unambiguous, nonredundant Concept permanence: minor name changes only Meaningless identifiers: no mnemonics or code hierarchy Multiple hierarchy Formal definitions

13 Formal Definitions Narrative definition: Serum Potassium Test: a test that measures potassium ion concentration in the serum Formal definition: Serum Potassium Test: is_a: Test has_specimen: Serum Specimen measures_substance: Potassium Ion

14 Formal Definitions Specimen Test Substance is_a Serum Specimen is_a is_a Potassium Ion has_specimen Serum Potassium Test measures_substance

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21 Desiderata 101 Content: synonyms, structural considerations Concept oriented: nonvague, unambiguous, nonredundant Concept permanence: minor name changes only NEC Meaningless identifiers: no mnemonics or code hierarchy Multiple hierarchy Formal definitions Avoid other terms (NEC)

22 Reject Not Elsewhere Classified Used for concepts without explicit codes Can never have a formal definition Terminology changes induce semantic drift

23 Annual Incidence of Shock (Normalized) Diagnosis ICD9-CM Code ICD9-CM Name Diagnosis ICD9-CM Code ICD9-CM Name Cardiogenic Shock Cardiogenic Shock Cardiogenic Shock Cardiogenic Shock Septicemic Shock Hypovolemic Shock Shock without Mention of Trauma, NEC Shock without Mention of Trauma, NEC Septicemic Shock Hypovolemic Shock Septic Shock Shock without Mention of Trauma, NEC

24 Annual Incidence of Shock (Normalized) Diagnosis Cardiogenic Shock Septicemic Shock Hypovolemic Shock ICD9-CM Code ICD9-CM Name Cardiogenic Shock Shock without Mention of Trauma, NEC Shock without Mention of Trauma, NEC Diagnosis Cardiogenic Shock Septicemic Shock Hypovolemic Shock ICD9-CM Code ICD9-CM Name Cardiogenic Shock Septic Shock Shock without Mention of Trauma, NEC The Will Rodgers Phenomenon : During the Great Dust Bowl Era, when Oakies moved to California, the IQ in both states increased.

25 Desiderata 101 Content: synonyms, structural considerations Concept oriented: nonvague, unambiguous, nonredundant Concept permanence: minor name changes only Meaningless identifiers: no mnemonics or code hierarchy Multiple hierarchy Formal definitions Avoid other terms (NEC) Evolve gracefully

26 Handling Retired Concepts Viral Hepatitis Hepatitis A Hepatitis B Non-A, Non-B Hepatitis

27 Handling Retired Concepts Viral Hepatitis Hepatitis A Hepatitis B Non-A, Non-B Hepatitis Hepatitis C

28 Terminology Maintenance Adding a new lab system 2533 test terms 5291 new terms 6 weeks to go-live

29 Automated Classification

30 Terminology Maintenance Adding a new lab system 2533 test terms 5291 new terms 6 weeks to go-live Maintaining a pharmacy formulary 2091 drugs ~914 new drugs per year (~3 per day) Classification by ingredient, AHFS, DEA, allergy, etc.

31 Automated Allergy Coding

32 Terminology Maintenance Adding a new lab system 2533 test terms 5291 new terms 6 weeks to go-live Maintaining a pharmacy formulary 2091 drugs ~914 new drugs per year (~3 per day) Classification by ingredient, AHFS, DEA, allergy, etc. 211 drugs found to be missing allergy codes

33 Desiderata 101 Content: synonyms, structural considerations Concept oriented: nonvague, unambiguous, nonredundant Concept permanence: minor name changes only Meaningless identifiers: no mnemonics or code hierarchy Multiple hierarchy Formal definitions Avoid other terms (NEC) Evolve gracefully

34

35 Semantic Representation in SNOMED-CT Tularemia Bacterial Pneumonia is-a Pulmonary Tularemia Lung Structure associatedmorphology Inflammation Francisella tularensis

36 LOINC (Logical Objects, Identifiers, Names and Codes) GLUCOSE^3H POST 100 G GLUCOSE PO SCNC PT SER/PLAS QN GLUCOSE^3H POST 100 G GLUCOSE PO MCNC PT SER/PLAS QN COAGULATION THROMBIN INDUCED TIME PT PPP^CONTROL QN TILT TUBE CREATINE KINASE.MB/CREATINE KINASE.TOTAL CFR PT SER/PLAS QN CALCULATION CREATINE KINASE.MB MCNC PT SER/PLAS QN

37 RxNorm C : Diazepam Oral Capsule C : Valium Oral Capsule C : Diazepam 5 MG Oral Capsule C : Diazepam 5 MG Oral Capsule [Valium] Synonym: Valium 5 MG Oral Capsule C : Diazepam 5 MG Oral Capsule [Solis] C : Valium C : Diazepam 5 MG C : Oral Capsule

38

39 Suggest some formal tactics Concept-oriented approach Interface terminology follows Interoperability follows Render unto Cesar what is Cesar s Strive for semantic modeling Improves concept-oriented approach Reuse for research follows Supports maintenance

40 Looking ahead Diagnostic terminologies differ based on perspective Multiple terminologies can peacefully co-exist Getting things by their right names is the first step Formal definitions will allow humans to understand each other computers to help with maintenance and translation

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