Toward a Diagnosis Driven (Dental) Profession through Controlled Terminology

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

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

Everyday Controlled Terminologies C:\> _

Controlled Terminologies in Biohealth

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

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

A little history 1994 1997 Cimino JJ. Desiderata for controlled medical vocabularies in the Twenty-First Century. Methods of Information in Medicine; 1998;37(4-5):394-403.

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

ICD-10-CM: 51 Tuberculosis Codes + 10 hierarchy codes) A15 0 Respiratory tuberculosis A15.0 1 Tuberculosis of lung A15.4 1 Tuberculosis of intrathoracic lymph nodes A15.5 1 Tuberculosis of larynx, trachea and bronchus A15.6 1 Tuberculous pleurisy A15.7 1 Primary respiratory tuberculosis A15.8 1 Other respiratory tuberculosis A15.9 1 Respiratory tuberculosis unspecified A17 0 Tuberculosis of nervous system A17.0 1 Tuberculous meningitis A17.1 1 Meningeal tuberculoma A17.8 0 Other tuberculosis of nervous system A17.81 1 Tuberculoma of brain and spinal cord A17.82 1 Tuberculous meningoencephalitis A17.83 1 Tuberculous neuritis A17.89 1 Other tuberculosis of nervous system A17.9 1 Tuberculosis of nervous system, unspecified A18 0 Tuberculosis of other organs A18.0 0 Tuberculosis of bones and joints A18.01 1 Tuberculosis of spine A18.02 1 Tuberculous arthritis of other joints A18.03 1 Tuberculosis of other bones A18.09 1 Other musculoskeletal tuberculosis A18.1 0 Tuberculosis of genitourinary system A18.10 1 Tuberculosis of genitourinary system, unspecified A18.11 1 Tuberculosis of kidney and ureter A18.12 1 Tuberculosis of bladder A18.13 1 Tuberculosis of other urinary organs A18.14 1 Tuberculosis of prostate A18.15 1 Tuberculosis of other male genital organs A18.16 1 Tuberculosis of cervix A18.17 1 Tuberculous female pelvic inflammatory disease A18.18 1 Tuberculosis of other female genital organs A18.2 1 Tuberculous peripheral lymphadenopathy A18.3 0 Tuberculosis of intestines, peritoneum and mesenteric glands A18.31 1 Tuberculous peritonitis A18.32 1 Tuberculous enteritis A18.39 1 Retroperitoneal tuberculosis A18.4 1 Tuberculosis of skin and subcutaneous tissue A18.5 0 Tuberculosis of eye A18.50 1 Tuberculosis of eye, unspecified A18.51 1 Tuberculous episcleritis A18.52 1 Tuberculous keratitis A18.53 1 Tuberculous chorioretinitis A18.54 1 Tuberculous iridocyclitis A18.59 1 Other tuberculosis of eye A18.6 1 Tuberculosis of (inner) (middle) ear A18.7 1 Tuberculosis of adrenal glands A18.8 0 Tuberculosis of other specified organs A18.81 1 Tuberculosis of thyroid gland A18.82 1 Tuberculosis of other endocrine glands A18.83 1 Tuberculosis of digestive tract organs, NEC A18.84 1 Tuberculosis of heart A18.85 1 Tuberculosis of spleen A18.89 1 Tuberculosis of other sites A19 0 Miliary tuberculosis A19.0 1 Acute miliary tuberculosis of a single specified site A19.1 1 Acute miliary tuberculosis of multiple sites A19.2 1 Acute miliary tuberculosis, unspecified A19.8 1 Other miliary tuberculosis A19.9 1 Miliary tuberculosis, unspecified

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 O9801 0 Tuberculosis complicating pregnancy O98011 1 Tuberculosis complicating pregnancy, first trimester O98012 1 Tuberculosis complicating pregnancy, second trimester O98013 1 Tuberculosis complicating pregnancy, third trimester O98019 1 Tuberculosis complicating pregnancy, unspecified trimester O9802 1 Tuberculosis complicating childbirth J65 P370 1 Pneumoconiosis associated with tuberculosis 1 Congenital tuberculosis Z8611 1 Personal history of tuberculosis

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

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

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

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

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)

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

Annual Incidence of Shock (Normalized) 2007 2008 Diagnosis ICD9-CM Code ICD9-CM Name Diagnosis ICD9-CM Code ICD9-CM Name Cardiogenic Shock 785.51 Cardiogenic Shock Cardiogenic Shock 785.51 Cardiogenic Shock Septicemic Shock Hypovolemic Shock 785.59 785.59 Shock without Mention of Trauma, NEC Shock without Mention of Trauma, NEC Septicemic Shock Hypovolemic Shock 785.52 785.59 Septic Shock Shock without Mention of Trauma, NEC

Annual Incidence of Shock (Normalized) Diagnosis Cardiogenic Shock Septicemic Shock Hypovolemic Shock 45 40 35 30 25 20 15 10 5 0 2007 2008 ICD9-CM Code 785.51 785.59 785.59 ICD9-CM Name Cardiogenic Shock Shock without Mention of Trauma, NEC Shock without Mention of Trauma, NEC Diagnosis Cardiogenic Shock Septicemic Shock Hypovolemic Shock 2006 2007 2008 2009 2010 2011 2012 ICD9-CM Code 785.51 785.52 785.59 785.5 785.51 785.59 785.52 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.

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

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

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

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

Automated Classification

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.

Automated Allergy Coding

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

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

1994 1997 1998

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

LOINC (Logical Objects, Identifiers, Names and Codes) 4764-5 GLUCOSE^3H POST 100 G GLUCOSE PO SCNC PT SER/PLAS QN 1530-5 GLUCOSE^3H POST 100 G GLUCOSE PO MCNC PT SER/PLAS QN 5955-0 COAGULATION THROMBIN INDUCED TIME PT PPP^CONTROL QN TILT TUBE 12189-7 CREATINE KINASE.MB/CREATINE KINASE.TOTAL CFR PT SER/PLAS QN CALCULATION 13969-1 CREATINE KINASE.MB MCNC PT SER/PLAS QN

RxNorm C1249939: Diazepam Oral Capsule C1256450: Valium Oral Capsule C0976327: Diazepam 5 MG Oral Capsule C0350474: Diazepam 5 MG Oral Capsule [Valium] Synonym: Valium 5 MG Oral Capsule C0697435: Diazepam 5 MG Oral Capsule [Solis] C0699187: Valium C0992254: Diazepam 5 MG C0991533: Oral Capsule

1994 1997 1998 2016

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

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