toward a diagnosis driven (dental) profession through controlled...

INFORMATICS INSTITUTE

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

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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

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

1994

1997


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


B90 0 Sequelae of tuberculosis B900 1 Sequelae of central nervous system tuberculosis B901 1 Sequelae of genitourinary tuberculosis B902 1 Sequelae of tuberculosis of bones and joints B908 1 Sequelae of tuberculosis of other organs B909 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 1 Pneumoconiosis associated with tuberculosis P370 1 Congenital tuberculosis Z8611 1 Personal history of tuberculosis

13 Other Tuberculosis Codes + 3 more hierarchy codes)


What if ICD-10-CM was a Polyhierarchy?

disease

cholera meningitis

infectious disease lung disease

tuberculosis

tuberculosis in pregnancy

infectious disease in pregnancy


Desiderata 101





Multiple hierarchy

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


Serum Potassium Test

Specimen

is_a

Substance

is_a

Test

is_a

Serum Specimen

has_specimen

Potassium Ion

measures_substance

Formal Definitions


Desiderata 101





Multiple hierarchy

Formal definitions

Avoid “other” terms (NEC) NEC


Used for concepts without explicit codes

Can never have a formal definition

Terminology changes induce semantic drift

Reject “Not Elsewhere Classified”


2007 2008

Diagnosis ICD9-CM Code

ICD9-CM Name

Cardiogenic Shock

785.51 Cardiogenic

Shock Septicemic

Shock 785.52

Septic Shock

Hypovolemic Shock

785.59 Shock without

Mention of Trauma, NEC


ICD9-CM Name

Cardiogenic Shock

785.51 Cardiogenic

Shock

Septicemic Shock



Hypovolemic Shock



Annual Incidence of Shock (Normalized)


2007 2008


ICD9-CM Name

Cardiogenic Shock

785.51 Cardiogenic

Shock Septicemic

Shock 785.52

Septic Shock

Hypovolemic Shock




ICD9-CM Name

Cardiogenic Shock

785.51 Cardiogenic

Shock

Septicemic Shock



Hypovolemic Shock



The “Will Rodgers Phenomenon”: During the Great Dust Bowl Era, when Oakies moved to California, the IQ in both states increased.

05

1015202530354045

2006 2007 2008 2009 2010 2011 2012

785.5785.51785.59785.52

Annual Incidence of Shock (Normalized)


Desiderata 101





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 C

Hepatitis A Hepatitis B Non-A, Non-B Hepatitis


Terminology Maintenance

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


Automated Classification




Maintaining a pharmacy formulary 2091 drugs ~914 new drugs per year (~3 per day) Classification by ingredient, AHFS, DEA, allergy, etc.


Automated Allergy Coding




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





Multiple hierarchy

Formal definitions

Avoid “other” terms (NEC)

Evolve gracefully


1998

1997

1994


Semantic Representation in SNOMED-CT

is-a

Bacterial Pneumonia Tularemia

Pulmonary Tularemia

Francisella tularensis

Lung Structure Inflammation

associated- morphology


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

C0350474: Diazepam 5 MG Oral Capsule [Valium] Synonym: Valium 5 MG Oral Capsule

C0697435: Diazepam 5 MG Oral Capsule [Solis]

C0991533: Oral Capsule

C0699187: Valium

C0992254: Diazepam 5 MG

C0976327: Diazepam 5 MG Oral Capsule

C1256450: Valium Oral Capsule

C1249939: Diazepam Oral Capsule

INFORMATICS INSTITUTE 2016

1998

1997

1994


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

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