Oncologic Pathology in Biomedical Terminologies Challenges for Data Integration Olivier Bodenreider National Library of Medicine Bethesda, Maryland - USA Anita Burgun Medical School / Univ. Hospital University of Rennes, France APIII conference on “Anatomic Pathology Informatics and Imaging Support for Translational Medicine” Pittsburgh, PA - September 10, 2007 Session 1 – Pathology Informatics Applications

2 Motivation u Multiple terminologies for oncology l International Classification of Diseases-Oncology (ICD-O-3) n Cancer registries n Epidemiology, Public health l SNOMED CT n Patient records n Clinical care l NCI Thesaurus n Annotation of research data

3 SNOMED CT

4 NCI Thesaurus

5 ICD-O-3 u Morphology l […] l Adenomas and adenocarcinomas n 8140/3Adenocarcinoma, NOS u Anatomy l […] l C60-C63Male genital organs n C61Prostate gland –C61.9Prostate, NOS Prostate gland Adenocarcinoma of prostate

6 Integrating subdomains CancerregistriesCancerregistries ICD-O ResearchdataResearchdata NCIThesaurus ClinicalrepositoriesClinicalrepositories SNOMED CT

7 CancerregistriesCancerregistries ResearchdataResearchdata ClinicalrepositoriesClinicalrepositories Terminology integration NCI Metathesaurus ICD-O NCIThesaurus SNOMED CT NCIMeta. C61.9Prostate, NOS C12410Prostate gland Prostatic structure C

8 CancerregistriesCancerregistries ResearchdataResearchdata ClinicalrepositoriesClinicalrepositories Objective Assess consistency ICD-O NCIThesaurus SNOMED CT

9 Objective Assess consistency u Neoplasm concepts present in the 3 terminologies l Relationship to Anatomy concept l Relationship to Morphology concept u For a given neoplasm, consistency among l Anatomy concepts l Morphology concepts u Preliminary, proof-of-concept study u Qualitative analysis of some cases in the 3 terminologies

10 Results Major types of issues u Missing relationships l For Morphology (e.g., not relationship to Morphology concepts in the NCI Thesaurus for Adenocarcinoma of prostate) u Confusion between Morphology and Disease concepts l In the NCI/UMLS Metathesaurus (e.g., Renal cell carcinoma vs. Adenocarcinoma of kidney) u Granularity issues l Anatomy concept express at different levels of granularity for the same neoplasm concept in different terminologies)

11 Missing relationship to Morphology concept

12 Results Major types of issues u Missing relationships l For Morphology (e.g., not relationship to Morphology concepts in the NCI Thesaurus for Adenocarcinoma of prostate) u Confusion between Morphology and Disease concepts l In the NCI/UMLS Metathesaurus (e.g., Renal cell carcinoma vs. Adenocarcinoma of kidney) u Granularity issues l Anatomy concept express at different levels of granularity for the same neoplasm concept in different terminologies)

13 CancerregistriesCancerregistries ResearchdataResearchdata ClinicalrepositoriesClinicalrepositories Confusion between Morphology and Disease ICD-O NCIThesaurus SNOMED CT NCIMeta. Renal cell carcinoma ( ) C Clear cell carcinoma of kidney ( )

14 Results Major types of issues u Missing relationships l For Morphology (e.g., not relationship to Morphology concepts in the NCI Thesaurus for Adenocarcinoma of prostate) u Confusion between Morphology and Disease concepts l In the NCI/UMLS Metathesaurus (e.g., Renal cell carcinoma vs. Adenocarcinoma of kidney) u Granularity issues l Anatomy concept express at different levels of granularity for the same neoplasm concept in different terminologies)

15 Conclusions u Integrating biomedical information from clinical care, research and epidemiology remains challenging u Oncology terminologies are not always consistent u Shared codes and mappings between terminologies help assess consistency and suggest corrections when needed

Medical Ontology Research Olivier Bodenreider Lister Hill National Center for Biomedical Communications Bethesda, Maryland - USA