Building Ontologies from the Ground Up When users set out to model their professional activity Mark A. Musen Professor of Medicine and Computer Science Stanford University v 1.00 1 “An ontology is a specification of a conceptualization” (T. Gruber) • A conceptualization is the way we think about a domain • A specification provides a formal way of writing it down 2 Porphyry’s depiction of Aristotle’s Categories Supreme genus: Differentiae: SUBSTANCE material immaterial Subordinate genera: Differentiae: BODY animate inanimate Subordinate genera: LIVING Differentiae: sensitive Proximate genera: ANIMAL Differentiae: rational Species: Individuals: SPIRIT MINERAL insensitive PLANT irrational HUMAN Socrates Plato BEAST Aristotle … 3 4 Creating Ontologies in Machine-Processable Form • Provides a mechanism for developers to codify salient distinctions about the world or some application area • Provides a structure for knowledge bases that can enable – – – – Information retrieval Information integration Automated translation Decision support 5 Ontologies are cropping up everywhere! • Indexing of online information for access by humans or search engines • Product catalogs for e-commerce • Reference terminologies for machine translation and data interchange • Standard terms for describing experimental data 6 The New Philosophers • Categorizing “what exists” in machineunderstandable form • Providing a structure that enables – Developers to locate and update relevant descriptions – Computers to infer relationships and properties • Creating new abstractions to facilitate the creation of this structure 7 8 Part of the CYC Upper Ontology 9 There is a misconception … • That people building ontologies are all well versed in metaphysics, computer science, knowledge representation, and the content domain • That ontologies in the real world are as “clean” as SUMO, DOLCE, and other upper-level ontologies • That most people who are creating ontologies understand all the ramifications of what they are doing! 10 Lots of ontology builders are not very good philosophers • Nearly always, ontologies are created to address pressing professional needs • The people who have the most insight into professional knowledge may have little appreciation for metaphysics, principles of knowledge representation, or computational logic • There simply aren’t enough good philosophers to go around 11 A case in point: The International Classification of Diseases • An enumeration of diseases that forms the basis for all medical claims and reimbursements in the United States • A “legacy” terminology that has its roots in 19th century epidemiology • Created initially by biostatisticians with a pressing need to compare death statistics in different European countries • A system that won’t go away—and yet we would never create anything like it again 12 The notion of disease emerged in the 17th century • Thomas Sydenham: “The selfsame phenomena that you observe in the sickness of a Socrates you would observe in the sickness of a simpleton” – Description of a plant applies to its species; – Description of disease should be similar • Over the next 100 years, diverse classification systems for diseases emerged • Emphasis became to understand disease in terms of associate pathological findings at autopsy 13 The Origins of the International Classification of Diseases • First International Statistical Congress, 1853, initially commissioned development of a nomenclature for coding causes of death • The resulting nomenclature was revised in 1855, 1864, 1874, 1880, 1886, with continued confusion as to how diseases should be classified • In 1891, Jacques Bertillon generated a synthesis organized largely anatomically; adopted by the International Statistical Institute in 1893 as the International List of Causes of Death 14 The ICD becomes an International Standard • In 1948, the World Health Organization became responsible for the International List of Causes of Death • Nonfatal diseases were then added to the list, in the course of multiple revisions to what then became the ICD • The Ninth revision, ICD-9 was released in 1977 • In 1978, after “clinical modification,” ICD-9-CM became a source taxonomy “for statistics concerning the planning, monitoring, and evaluation of health services” 15 A Small Portion of ICD9-CM 724 724.0 724.00 724.01 724.02 724.09 724.1 724.2 724.3 724.4 724.5 724.6 724.7 724.70 724.71 724.71 724.8 724.9 Unspecified disorders of the back Spinal stenosis, other than cervical Spinal stenosis, unspecified region Spinal stenosis, thoracic region Spinal stenosis, lumbar region Spinal stenosis, other Pain in thoracic spine Lumbago Sciatica Thoracic or lumbosacral neuritis Backache, unspecified Disorders of sacrum Disorders of coccyx Unspecified disorder of coccyx Hypermobility of coccyx Coccygodynia Other symptoms referable to back Other unspecified back disorders Enumerative schemes are finite and fixed Hard to add terms Hard to find terms Definitions of terms are informal at best 16 ICD9 (1977): A Handful of Codes for Traffic Accidents 17 ICD10 (1999): 587 codes for such accidents topClass I Certain infectious and parasitic diseases II Neoplasms III Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism IV Endocrine, nutritional and metabolic diseases V Mental and behavioural disorders VI Diseases of the nervous system VII Diseases of the eye and adnexa VIII Diseases of the ear and mastoid process IX Diseases of the circulatory systems X Diseases of the respiratory system XI Diseases of the digestive system XII Diseases of the skin and subcutaneous tissue XIII Diseases of the musculoskeletal system and connective tissue XIV Diseases of the genitourinary system XV Pregnancy, childbirth and the puerperium XVI Certain conditions originating in the perinatal period XVII Congenital malformations, deformations and chromosomal abnormalities XVIII Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified XIX Injury, poisoning and certain other consequences of external causes XX External causes of morbidity and mortality V01-V99 Transport accidents V01-V09 Pedestrian injured in transport accident V10-V19 Pedal cyclist injured in transport accident V10 Pedal cyclist injured in collision with pedestrian or animal V10.0 Pedal cyclist injured in collision with pedestrian or animal, driver, nontraffic accident V10.00 Pedal cyclist injured in collision with pedestrian or animal, driver, nontraffic accident, while engaged in sports activity V10.01 Pedal cyclist injured in collision with pedestrian or animal, driver, nontraffic accident, while engaged in leisure activity V10.02 Pedal cyclist injured in collision with pedestrian or animal, driver, nontraffic accident, while working for an income V10.03 Pedal cyclist injured in collision with pedestrian or animal, driver, nontraffic accident, while engaged in other types of work V10.04 Pedal cyclist injured in collision with pedestrian or animal, driver, nontraffic accident, while resting, sleeping, eating or engaging in other vital activities V10.08 Pedal cyclist injured in collision with pedestrian or animal, driver, nontraffic accident, while engaged in other specified activities V10.09 Pedal cyclist injured in collision with pedestrian or animal, driver, nontraffic accident, during unspecified activity V10.1 Pedal cyclist injured in collision with pedestrian or animal, passenger, nontraffic accident V10.10 Pedal cyclist injured in collision with pedestrian or animal, passenger, nontraffic accident, while engaged in sports activity V13 Pedal cyclist injured in collision with car, pick-up truck or van V10.11 Pedal cyclist injured in collision with pedestrian or animal, passenger, nontraffic accident, while engaged in leisure activity V13.0 Pedal cyclist injured in collision with car, pick-up truck or van, driver, nontraffic accident V10.12 Pedal cyclist injured in collision with pedestrian or animal, passenger, nontraffic accident, while working for an income V10.13 Pedal cyclist injured in collision with pedestrian or animal, passenger, nontraffic accident, while engaged in other types of work V13.00 Pedal cyclist injured in collision with car, pick-up truck or van, driver, nontraffic accident, while engaged in sports activity V10.14 Pedal cyclist injured in collision with pedestrian or animal, passenger, nontraffic accident, while resting, sleeping, eating or engaging in other vital activities V13.01 Pedal cyclist injured in collision with car, pick-up truck or van, driver, nontraffic accident, while engaged in leisure activity V10.18 Pedal cyclist injured in collision with pedestrian or animal, passenger, nontraffic accident, while engaged in other specified activities V13.02 Pedal cyclist injured in collision with car, pick-up truck or van, driver, nontraffic accident, while working for an income V10.19 Pedal cyclist injured in collision with pedestrian or animal, passenger, nontraffic accident, during unspecified activity V13.03 Pedal cyclist injured in collision with car, pick-up truck or van, driver, nontraffic accident, while engaged in other types of work V10.2 Pedal cyclist injured in collision with pedestrian or animal, unspecified pedal cyclist, nontraffic accident V10.20 Pedal cyclist injured in collision with pedestrian or animal, unspecified pedal cyclist, nontraffic accident, while engaged in sports activity V13.04 Pedal cyclist injured in collision with car, pick-up truck or van, driver, nontraffic accident, while resting, sleeping, eating or engaging in other vital activities V10.21 Pedal cyclist injured in collision with pedestrian or animal, unspecified pedal cyclist, nontraffic accident, while engaged in leisure activity V13.08 Pedal cyclist injured in collision with car, pick-up truck or van, driver, nontraffic accident, while engaged in other specified activities V10.22 Pedal cyclist injured in collision with pedestrian or animal, unspecified pedal cyclist, nontraffic accident, while working for an income V13.09 Pedal cyclist injured in collision with car, pick-up truck or van, driver, nontraffic accident, during unspecified activity V10.23 Pedal cyclist injured in collision with pedestrian or animal, unspecified pedal cyclist, nontraffic accident, while engaged in other types of work V13.1 Pedal cyclist injured in collision with car, pick-up truck or van, passenger, nontraffic accident V10.24 Pedal cyclist injured in collision with pedestrian or animal, unspecified pedal cyclist, nontraffic accident, while resting, sleeping, eating or engaging in other vital activities V10.28 Pedal cyclist injured in collision with pedestrian or animal, unspecified pedal cyclist, nontraffic accident, while engaged in other specified activities V13.10 Pedal cyclist injured in collision with car, pick-up truck or van, passenger, nontraffic accident, while engaged in sports activity V10.29 Pedal cyclist injured in collision with pedestrian or animal, unspecified pedal cyclist, nontraffic accident, during unspecified activity V13.11 Pedal cyclist injured in collision with car, pick-up truck or van, passenger, nontraffic accident, while engaged in leisure activity V10.3 Pedal cyclist injured in collision with pedestrian or animal, while boarding or alighting V13.12 Pedal cyclist injured in collision with car, pick-up truck or van, passenger, nontraffic accident, while working for an income V10.30 Pedal cyclist injured in collision with pedestrian or animal, while boarding or alighting, while engaged in sports activity V15.2 Pedal cyclist injured in collision with railway train or railway vehicle, unspecified pedal cyclist, nontraffic accident V15.20 Pedal cyclist injured in collision with railway train or railway vehicle, unspecified pedal cyclist, nontraffic accident, while engaged in sports activity V15.21 Pedal cyclist injured in collision with railway train or railway vehicle, unspecified pedal cyclist, nontraffic accident, while engaged in leisure activity V15.22 Pedal cyclist injured in collision with railway train or railway vehicle, unspecified pedal cyclist, nontraffic accident, while working for an income V15.23 Pedal cyclist injured in collision with railway train or railway vehicle, unspecified pedal cyclist, nontraffic accident, while engaged in other types of work V15.24 Pedal cyclist injured in collision with railway train or railway vehicle, unspecified pedal cyclist, nontraffic accident, while resting, sleeping, eating or engaging in other vital activities V15.28 Pedal cyclist injured in collision with railway train or railway vehicle, unspecified pedal cyclist, nontraffic accident, while engaged in other specified activities V15.29 Pedal cyclist injured in collision with railway train or railway vehicle, unspecified pedal cyclist, nontraffic accident, during unspecified activity V15.3 Pedal cyclist injured in collision with railway train or railway vehicle, while boarding or alighting V15.30 Pedal cyclist injured in collision with railway train or railway vehicle, while boarding or alighting, while engaged in sports activity V15.31 Pedal cyclist injured in collision with railway train or railway vehicle, while boarding or alighting, while engaged in leisure activity V15.32 Pedal cyclist injured in collision with railway train or railway vehicle, while boarding or alighting, while working for an income, while working for an income V15.33 Pedal cyclist injured in collision with railway train or railway vehicle, while boarding or alighting, while engaged in other types of work V10.31 Pedal cyclist injured in collision with pedestrian or animal, while boarding or alighting, while engaged in leisure activity V13.13 Pedal cyclist injured in collision with car, pick-up truck or van, passenger, nontraffic accident, while engaged in other types of work V10.32 Pedal cyclist injured in collision with pedestrian or animal, while boarding or alighting, while working for an income V15.34 Pedal cyclist injured in collision with railway train or railway vehicle, while boarding or alighting, while resting, sleeping, eating or engaging in other vital activities V13.14 Pedal cyclist injured in collision with car, pick-up truck or van, passenger, nontraffic accident, while resting, sleeping, eating or engaging in other vital activities V10.33 Pedal cyclist injured in collision with pedestrian or animal, while boarding or alighting, while engaged in other types of work V15.38 Pedal cyclist injured in collision with railway train or railway vehicle, while boarding or alighting, while engaged in other specified activities V13.18 Pedal cyclist injured in collision with car, pick-up truck or van, passenger, nontraffic accident, while engaged in other specified activities V10.34 Pedal cyclist injured in collision with pedestrian or animal, while boarding or alighting, while resting, sleeping, eating or engaging in other vital activities V15.39 Pedal cyclist injured in collision with railway train or railway vehicle, while boarding or alighting, during unspecified activity V13.19 Pedal cyclist injured in collision with car, pick-up truck or van, passenger, nontraffic accident, during unspecified activity V10.38 Pedal cyclist injured in collision with pedestrian or animal, while boarding or alighting, while engaged in other specified activities V15.4 Pedal cyclist injured in collision with railway train or railway vehicle, driver, traffic accident V10.39 Pedal cyclist injured in collision with pedestrian or animal, while boarding or alighting, during unspecified activity V13.2 Pedal cyclist injured in collision with car, pick-up truck or van, unspecified pedal cyclist, nontraffic accident V10.4 Pedal cyclist injured in collision with pedestrian or animal, driver, traffic accident V15.40 Pedal cyclist injured in collision with railway train or railway vehicle, driver, traffic accident, while engaged in sports activity V13.20 Pedal cyclist injured in collision with car, pick-up truck or van, unspecified pedal cyclist, nontraffic accident, while engaged in sports activity V10.40 Pedal cyclist injured in collision with pedestrian or animal, driver, traffic accident, while engaged in sports activity V15.41 Pedal cyclist injured in collision with railway train or railway vehicle, driver, traffic accident, while engaged in leisure activity V13.21 Pedal cyclist injured in collision with car, pick-up truck or van, unspecified pedal cyclist, nontraffic accident, while engaged in leisure activity V10.41 Pedal cyclist injured in collision with pedestrian or animal, driver, traffic accident, while engaged in leisure activity V15.42 Pedal cyclist injured in collision with railway train or railway vehicle, driver, traffic accident, while working for an income V13.22 Pedal cyclist injured in collision with car, pick-up truck or van, unspecified pedal cyclist, nontraffic accident, while working for an income V10.42 Pedal cyclist injured in collision with pedestrian or animal, driver, traffic accident, while working for an income V10.43 Pedal cyclist injured in collision with pedestrian or animal, driver, traffic accident, while engaged in other types of work V15.43 Pedal cyclist injured in collision with railway train or railway vehicle, driver, traffic accident, while engaged in other types of work V13.23 Pedal cyclist injured in collision with car, pick-up truck or van, unspecified pedal cyclist, nontraffic accident, while engaged in other types of work V10.44 Pedal cyclist injured in collision with pedestrian or animal, driver, traffic accident, while resting, sleeping, eating or engaging in other vital activities V15.44 Pedal cyclist injured in collision with railway train or railway vehicle, driver, traffic accident, while resting, sleeping, eating or engaging in other vital activities V13.24 Pedal cyclist injured in collision with car, pick-up truck or van, unspecified pedal cyclist, nontraffic accident, while resting, sleeping, eating or engaging in other vital activities V10.48 Pedal cyclist injured in collision with pedestrian or animal, driver, traffic accident, while engaged in other specified activities V15.48 Pedal cyclist injured in collision with railway train or railway vehicle, driver, traffic accident, while engaged in other specified activities V13.28 Pedal cyclist injured in collision with car, pick-up truck or van, unspecified pedal cyclist, nontraffic accident, while engaged in other specified activities V10.49 Pedal cyclist injured in collision with pedestrian or animal, driver, traffic accident, during unspecified activity V15.49 Pedal cyclist injured in collision with railway train or railway vehicle, driver, traffic accident, during unspecified activity V10.5 Pedal cyclist injured in collision with pedestrian or animal, passenger, traffic accident V13.29 Pedal cyclist injured in collision with car, pick-up truck or van, unspecified pedal cyclist, nontraffic accident, during unspecified activity V10.50 Pedal cyclist injured in collision with pedestrian or animal, passenger, traffic accident, while engaged in sports activity V15.5 Pedal cyclist injured in collision with railway train or railway vehicle, passenger, traffic accident V13.3 Pedal cyclist injured in collision with car, pick-up truck or van, while boarding or alighting V10.51 Pedal cyclist injured in collision with pedestrian or animal, passenger, traffic accident, while engaged in leisure activity V15.50 Pedal cyclist injured in collision with railway train or railway vehicle, passenger, traffic accident, while engaged in sports activity V13.30 Pedal cyclist injured in collision with car, pick-up truck or van, while boarding or alighting, while engaged in sports activity V10.52 Pedal cyclist injured in collision with pedestrian or animal, passenger, traffic accident, while working for an income V15.51 Pedal cyclist injured in collision with railway train or railway vehicle, passenger, traffic accident, while engaged in leisure activity V13.31 Pedal cyclist injured in collision with car, pick-up truck or van, while boarding or alighting, while engaged in leisure activity V10.53 Pedal cyclist injured in collision with pedestrian or animal, passenger, traffic accident, while engaged in other types of work V15.52 Pedal cyclist injured in collision with railway train or railway vehicle, passenger, traffic accident, while working for an income V10.54 Pedal cyclist injured in collision with pedestrian or animal, passenger, traffic accident, while resting, sleeping, eating or engaging in other vital activities V13.32 Pedal cyclist injured in collision with car, pick-up truck or van, while boarding or alighting, while working for an income V10.58 Pedal cyclist injured in collision with pedestrian or animal, passenger, traffic accident, while engaged in other specified activities V15.53 Pedal cyclist injured in collision with railway train or railway vehicle, passenger, traffic accident, while engaged in other types of work V13.33 Pedal cyclist injured in collision with car, pick-up truck or van, while boarding or alighting, while engaged in other types of work V10.59 Pedal cyclist injured in collision with pedestrian or animal, passenger, traffic accident, during unspecified activity V15.54 Pedal cyclist injured in collision with railway train or railway vehicle, passenger, traffic accident, while resting, sleeping, eating or engaging in other vital activities V13.34 Pedal cyclist injured in collision with car, pick-up truck or van, while boarding or alighting, while resting, sleeping, eating or engaging in other vital activities V10.9 Pedal cyclist injured in collision with pedestrian or animal, unspecified pedal cyclist, traffic accident V15.58 Pedal cyclist injured in collision with railway train or railway vehicle, passenger, traffic accident, while engaged in other specified activities V13.38 Pedal cyclist injured in collision with car, pick-up truck or van, while boarding or alighting, while engaged in other specified activities V10.90 Pedal cyclist injured in collision with pedestrian or animal, unspecified pedal cyclist, traffic accident, while engaged in sports activity V10.91 Pedal cyclist injured in collision with pedestrian or animal, unspecified pedal cyclist, traffic accident, while engaged in leisure activity V15.59 Pedal cyclist injured in collision with railway train or railway vehicle, passenger, traffic accident, during unspecified activity V13.39 Pedal cyclist injured in collision with car, pick-up truck or van, while boarding or alighting, during unspecified activity V10.92 Pedal cyclist injured in collision with pedestrian or animal, unspecified pedal cyclist, traffic accident, while working for an income V15.9 Pedal cyclist injured in collision with railway train or railway vehicle, unspecified pedal cyclist, traffic accident V13.4 Pedal cyclist injured in collision with car, pick-up truck or van, driver, traffic accident V10.93 Pedal cyclist injured in collision with pedestrian or animal, unspecified pedal cyclist, traffic accident, while engaged in other types of work V15.90 Pedal cyclist injured in collision with railway train or railway vehicle, unspecified pedal cyclist, traffic accident, while engaged in sports activity V13.40 Pedal cyclist injured in collision with car, pick-up truck or van, driver, traffic accident, while engaged in sports activity V10.94 Pedal cyclist injured in collision with pedestrian or animal, unspecified pedal cyclist, traffic accident, while resting, sleeping, eating or engaging in other vital activities V15.91 Pedal cyclist injured in collision with railway train or railway vehicle, unspecified pedal cyclist, traffic accident, while engaged in leisure activity V10.98 Pedal cyclist injured in collision with pedestrian or animal, unspecified pedal cyclist, traffic accident, while engaged in other specified activities V13.41 Pedal cyclist injured in collision with car, pick-up truck or van, driver, traffic accident, while engaged in leisure activity V10.99 Pedal cyclist injured in collision with pedestrian or animal, unspecified pedal cyclist, traffic accident, during unspecified activity V15.92 Pedal cyclist injured in collision with railway train or railway vehicle, unspecified pedal cyclist, traffic accident, while working for an income V13.42 Pedal cyclist injured in collision with car, pick-up truck or van, driver, traffic accident, while working for an income V11 Pedal cyclist injured in collision with other pedal cycle V15.93 Pedal cyclist injured in collision with railway train or railway vehicle, unspecified pedal cyclist, traffic accident, while engaged in other types of work V13.43 Pedal cyclist injured in collision with car, pick-up truck or van, driver, traffic accident, while engaged in other types of work V11.0 Pedal cyclist injured in collision with other pedal cycle, driver, nontraffic accident V15.94 Pedal cyclist injured in collision with railway train or railway vehicle, unspecified pedal cyclist, traffic accident, while resting, sleeping, eating or engaging in other vital activities V13.44 Pedal cyclist injured in collision with car, pick-up truck or van, driver, traffic accident, while resting, sleeping, eating or engaging in other vital activities V11.00 Pedal cyclist injured in collision with other pedal cycle, driver, nontraffic accident, while engaged in sports activity V15.98 Pedal cyclist injured in collision with railway train or railway vehicle, unspecified pedal cyclist, traffic accident, while engaged in other specified activities V11.01 Pedal cyclist injured in collision with other pedal cycle, driver, nontraffic accident, while engaged in leisure activity V13.48 Pedal cyclist injured in collision with car, pick-up truck or van, driver, traffic accident, while engaged in other specified activities V11.02 Pedal cyclist injured in collision with other pedal cycle, driver, nontraffic accident, while working for an income V15.99 Pedal cyclist injured in collision with railway train or railway vehicle, unspecified pedal cyclist, traffic accident, during unspecified activity V13.49 Pedal cyclist injured in collision with car, pick-up truck or van, driver, traffic accident, during unspecified activity V11.03 Pedal cyclist injured in collision with other pedal cycle, driver, nontraffic accident, while engaged in other types of work V16 Pedal cyclist injured in collision with other nonmotor vehicle V13.5 Pedal cyclist injured in collision with car, pick-up truck or van, passenger, traffic accident V11.04 Pedal cyclist injured in collision with other pedal cycle, driver, nontraffic accident, while resting, sleeping, eating or engaging in other vital activities V16.0 Pedal cyclist injured in collision with other nonmotor vehicle, driver, nontraffic accident V13.50 Pedal cyclist injured in collision with car, pick-up truck or van, passenger, traffic accident, while engaged in sports activity V11.08 Pedal cyclist injured in collision with other pedal cycle, driver, nontraffic accident, while engaged in other specified activities V11.09 Pedal cyclist injured in collision with other pedal cycle, driver, nontraffic accident, during unspecified activity V16.00 Pedal cyclist injured in collision with other nonmotor vehicle, driver, nontraffic accident, while engaged in sports activity V13.51 Pedal cyclist injured in collision with car, pick-up truck or van, passenger, traffic accident, while engaged in leisure activity V11.1 Pedal cyclist injured in collision with other pedal cycle, passenger, nontraffic accident V16.01 Pedal cyclist injured in collision with other nonmotor vehicle, driver, nontraffic accident, while engaged in leisure activity V13.52 Pedal cyclist injured in collision with car, pick-up truck or van, passenger, traffic accident, while working for an income V11.10 Pedal cyclist injured in collision with other pedal cycle, passenger, nontraffic accident, while engaged in sports activity V16.02 Pedal cyclist injured in collision with other nonmotor vehicle, driver, nontraffic accident, while working for an income V13.53 Pedal cyclist injured in collision with car, pick-up truck or van, passenger, traffic accident, while engaged in other types of work V11.11 Pedal cyclist injured in collision with other pedal cycle, passenger, nontraffic accident, while engaged in leisure activity V16.03 Pedal cyclist injured in collision with other nonmotor vehicle, driver, nontraffic accident, while engaged in other types of work V11.12 Pedal cyclist injured in collision with other pedal cycle, passenger, nontraffic accident, while working for an income V13.54 Pedal cyclist injured in collision with car, pick-up truck or van, passenger, traffic accident, while resting, sleeping, eating or engaging in other vital activities V11.13 Pedal cyclist injured in collision with other pedal cycle, passenger, nontraffic accident, while engaged in other types of work V16.04 Pedal cyclist injured in collision with other nonmotor vehicle, driver, nontraffic accident, while resting, sleeping, eating or engaging in other vital activities V13.58 Pedal cyclist injured in collision with car, pick-up truck or van, passenger, traffic accident, while engaged in other specified activities V11.14 Pedal cyclist injured in collision with other pedal cycle, passenger, nontraffic accident, while resting, sleeping, eating or engaging in other vital activities V16.08 Pedal cyclist injured in collision with other nonmotor vehicle, driver, nontraffic accident, while engaged in other specified activities V13.59 Pedal cyclist injured in collision with car, pick-up truck or van, passenger, traffic accident, during unspecified activity V11.18 Pedal cyclist injured in collision with other pedal cycle, passenger, nontraffic accident, while engaged in other specified activities V16.09 Pedal cyclist injured in collision with other nonmotor vehicle, driver, nontraffic accident, during unspecified activity V13.9 Pedal cyclist injured in collision with car, pick-up truck or van, unspecified pedal cyclist, traffic accident V11.19 Pedal cyclist injured in collision with other pedal cycle, passenger, nontraffic accident, during unspecified activity V16.1 Pedal cyc V11.2 Pedal cyclist injured in collision with other pedal cycle, unspecified pedal cyclist, nontraffic accident V13.90 Pedal cyclist injured in collision with car, pick-up truck or van, unspecified pedal cyclist, traffic accident, while engaged in sports activity V11.20 Pedal cyclist injured in collision with other pedal cycle, unspecified pedal cyclist, nontraffic accident, while engaged in sports activity V13.91 Pedal cyclist injured in collision with car, pick-up truck or van, unspecified pedal cyclist, traffic accident, while engaged in leisure activity V11.21 Pedal cyclist injured in collision with other pedal cycle, unspecified pedal cyclist, nontraffic accident, while engaged in leisure activity V13.92 Pedal cyclist injured in collision with car, pick-up truck or van, unspecified pedal cyclist, traffic accident, while working for an income V11.22 Pedal cyclist injured in collision with other pedal cycle, unspecified pedal cyclist, nontraffic accident, while working for an income V13.93 Pedal cyclist injured in collision with car, pick-up truck or van, unspecified pedal cyclist, traffic accident, while engaged in other types of work V11.23 Pedal cyclist injured in collision with other pedal cycle, unspecified pedal cyclist, nontraffic accident, while engaged in other types of work V11.24 Pedal cyclist injured in collision with other pedal cycle, unspecified pedal cyclist, nontraffic accident, while resting, sleeping, eating or engaging in other vital activities V13.94 Pedal cyclist injured in collision with car, pick-up truck or van, unspecified pedal cyclist, traffic accident, while resting, sleeping, eating or engaging in other vital activities V11.28 Pedal cyclist injured in collision with other pedal cycle, unspecified pedal cyclist, nontraffic accident, while engaged in other specified activities V13.98 Pedal cyclist injured in collision with car, pick-up truck or van, unspecified pedal cyclist, traffic accident, while engaged in other specified activities V11.29 Pedal cyclist injured in collision with other pedal cycle, unspecified pedal cyclist, nontraffic accident, during unspecified activity V13.99 Pedal cyclist injured in collision with car, pick-up truck or van, unspecified pedal cyclist, traffic accident, during unspecified activity V11.3 Pedal cyclist injured in collision with other pedal cycle, while boarding or alighting V11.30 Pedal cyclist injured in collision with other pedal cycle, while boarding or alighting, while engaged in sports activity V14 Pedal cyclist injured in collision with heavy transport vehicle or bus V11.31 Pedal cyclist injured in collision with other pedal cycle, while boarding or alighting, while engaged in leisure activity V14.0 Pedal cyclist injured in collision with heavy transport vehicle or bus, driver, nontraffic accident V11.32 Pedal cyclist injured in collision with other pedal cycle, while boarding or alighting, while working for an income V14.00 Pedal cyclist injured in collision with heavy transport vehicle or bus, driver, nontraffic accident, while engaged in sports activity V11.33 Pedal cyclist injured in collision with other pedal cycle, while boarding or alighting, while engaged in other types of work •V31.22 Occupant of three-wheeled motor vehicle injured in collision with pedal cycle, person on outside of vehicle, nontraffic accident, while working for income •W65.40 Drowning and submersion while in bath-tub, street and highway, while engaged in sports activity •X35.44 Victim of volcanic eruption, street and highway, while resting, sleeping, eating or engaging in other vital activities V14.01 Pedal cyclist injured in collision with heavy transport vehicle or bus, driver, nontraffic accident, while engaged in leisure activity V11.34 Pedal cyclist injured in collision with other pedal cycle, while boarding or alighting, while resting, sleeping, eating or engaging in other vital activities V11.38 Pedal cyclist injured in collision with other pedal cycle, while boarding or alighting, while engaged in other specified activities V14.02 Pedal cyclist injured in collision with heavy transport vehicle or bus, driver, nontraffic accident, while working for an income V11.39 Pedal cyclist injured in collision with other pedal cycle, while boarding or alighting, during unspecified activity V14.03 Pedal cyclist injured in collision with heavy transport vehicle or bus, driver, nontraffic accident, while engaged in other types of work V11.4 Pedal cyclist injured in collision with other pedal cycle, driver, traffic accident V14.04 Pedal cyclist injured in collision with heavy transport vehicle or bus, driver, nontraffic accident, while resting, sleeping, eating or engaging in other vital activities V11.40 Pedal cyclist injured in collision with other pedal cycle, driver, traffic accident, while engaged in sports activity V14.08 Pedal cyclist injured in collision with heavy transport vehicle or bus, driver, nontraffic accident, while engaged in other specified activities V11.41 Pedal cyclist injured in collision with other pedal cycle, driver, traffic accident, while engaged in leisure activity V11.42 Pedal cyclist injured in collision with other pedal cycle, driver, traffic accident, while working for an income V14.09 Pedal cyclist injured in collision with heavy transport vehicle or bus, driver, nontraffic accident, during unspecified activity V11.43 Pedal cyclist injured in collision with other pedal cycle, driver, traffic accident, while engaged in other types of work V14.1 Pedal cyclist injured in collision with heavy transport vehicle or bus, passenger, nontraffic accident V11.44 Pedal cyclist injured in collision with other pedal cycle, driver, traffic accident, while resting, sleeping, eating or engaging in other vital activities V14.10 Pedal cyclist injured in collision with heavy transport vehicle or bus, passenger, nontraffic accident, while engaged in sports activity V11.48 Pedal cyclist injured in collision with other pedal cycle, driver, traffic accident, while engaged in other specified activities V11.49 Pedal cyclist injured in collision with other pedal cycle, driver, traffic accident, during unspecified activity V14.11 Pedal cyclist injured in collision with heavy transport vehicle or bus, passenger, nontraffic accident, while engaged in leisure activity V11.5 Pedal cyclist injured in collision with other pedal cycle, passenger, traffic accident V14.12 Pedal cyclist injured in collision with heavy transport vehicle or bus, passenger, nontraffic accident, while working for an income V11.50 Pedal cyclist injured in collision with other pedal cycle, passenger, traffic accident, while engaged in sports activity V14.13 Pedal cyclist injured in collision with heavy transport vehicle or bus, passenger, nontraffic accident, while engaged in other types of work V11.51 Pedal cyclist injured in collision with other pedal cycle, passenger, traffic accident, while engaged in leisure activity V14.14 Pedal cyclist injured in collision with heavy transport vehicle or bus, passenger, nontraffic accident, while resting, sleeping, eating or engaging in other vital activities V11.52 Pedal cyclist injured in collision with other pedal cycle, passenger, traffic accident, while working for an income V11.53 Pedal cyclist injured in collision with other pedal cycle, passenger, traffic accident, while engaged in other types of work V14.18 Pedal cyclist injured in collision with heavy transport vehicle or bus, passenger, nontraffic, while engaged in other specified activities accident V11.54 Pedal cyclist injured in collision with other pedal cycle, passenger, traffic accident, while resting, sleeping, eating or engaging in other vital activities V14.19 Pedal cyclist injured in collision with heavy transport vehicle or bus, passenger, nontraffic, during unspecified activity accident V11.58 Pedal cyclist injured in collision with other pedal cycle, passenger, traffic accident, while engaged in other specified activities V14.2 Pedal cyclist injured in collision with heavy transport vehicle or bus, unspecified pedal cyclist, nontraffic accident V11.59 Pedal cyclist injured in collision with other pedal cycle, passenger, traffic accident, during unspecified activity V14.20 Pedal cyclist injured in collision with heavy transport vehicle or bus, unspecified pedal cyclist, nontraffic accident, while engaged in sports activity V11.9 Pedal cyclist injured in collision with other pedal cycle, unspecified pedal cyclist, traffic accident V11.90 Pedal cyclist injured in collision with other pedal cycle, unspecified pedal cyclist, traffic accident, while engaged in sports activity V14.21 Pedal cyclist injured in collision with heavy transport vehicle or bus, unspecified pedal cyclist, nontraffic accident, while engaged in leisure activity V11.91 Pedal cyclist injured in collision with other pedal cycle, unspecified pedal cyclist, traffic accident, while engaged in leisure activity V14.22 Pedal cyclist injured in collision with heavy transport vehicle or bus, unspecified pedal cyclist, nontraffic accident, while working for an income V11.92 Pedal cyclist injured in collision with other pedal cycle, unspecified pedal cyclist, traffic accident, while working for an income V14.23 Pedal cyclist injured in collision with heavy transport vehicle or bus, unspecified pedal cyclist, nontraffic accident, while engaged in other types of work V11.93 Pedal cyclist injured in collision with other pedal cycle, unspecified pedal cyclist, traffic accident, while engaged in other types of work V11.94 Pedal cyclist injured in collision with other pedal cycle, unspecified pedal cyclist, traffic accident, while resting, sleeping, eating or engaging in other vital activities V14.24 Pedal cyclist injured in collision with heavy transport vehicle or bus, unspecified pedal cyclist, nontraffic accident, while resting, sleeping, eating or engaging in other vital activities V11.98 Pedal cyclist injured in collision with other pedal cycle, unspecified pedal cyclist, traffic accident, while engaged in other specified activities V14.28 Pedal cyclist injured in collision with heavy transport vehicle or bus, unspecified pedal cyclist, nontraffic accident, while engaged in other specified activities V11.99 Pedal cyclist injured in collision with other pedal cycle, unspecified pedal cyclist, traffic accident, during unspecified activity V14.29 Pedal cyclist injured in collision with heavy transport vehicle or bus, unspecified pedal cyclist, nontraffic accident, during unspecified activity V12 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle V14.3 Pedal cyclist injured in collision with heavy transport vehicle or bus, while boarding or alighting V12.0 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, driver, nontraffic accident V12.00 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, driver, nontraffic accident, while engaged in sports activity V14.30 Pedal cyclist injured in collision with heavy transport vehicle or bus, while boarding or alighting, while engaged in sports activity V12.01 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, driver, nontraffic accident, while engaged in leisure activity V14.31 Pedal cyclist injured in collision with heavy transport vehicle or bus, while boarding or alighting, while engaged in leisure activity V12.02 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, driver, nontraffic accident, while working for an income V14.32 Pedal cyclist injured in collision with heavy transport vehicle or bus, while boarding or alighting, while working for an income V12.03 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, driver, nontraffic accident, while engaged in other types of work V14.33 Pedal cyclist injured in collision with heavy transport vehicle or bus, while boarding or alighting, while engaged in other types of work V12.04 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, driver, nontraffic accident, while resting, sleeping, eating or engaging in other vital activities V12.08 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, driver, nontraffic accident, while engaged in other specified activities V14.34 Pedal cyclist injured in collision with heavy transport vehicle or bus, while boarding or alighting, while resting, sleeping, eating or engaging in other vital activities V12.09 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, driver, nontraffic accident, during unspecified activity V14.38 Pedal cyclist injured in collision with heavy transport vehicle or bus, while boarding or alighting, while engaged in other specified activities V12.1 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, passenger, nontraffic accident V14.39 Pedal cyclist injured in collision with heavy transport vehicle or bus, while boarding or alighting, during unspecified activity V12.10 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, passenger, nontraffic accident, while engaged in sports activity V12.11 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, passenger, nontraffic accident, while engaged in leisure activity V14.4 Pedal cyclist injured in collision with heavy transport vehicle or bus, driver, traffic accident V12.12 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, passenger, nontraffic accident, while working for an income V14.40 Pedal cyclist injured in collision with heavy transport vehicle or bus, driver, traffic accident, while engaged in sports activity V12.13 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, passenger, nontraffic accident, while engaged in other types of work V14.41 Pedal cyclist injured in collision with heavy transport vehicle or bus, driver, traffic accident, while engaged in leisure activity V12.14 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, passenger, nontraffic accident, while resting, sleeping, eating or engaging in other vital activities V14.42 Pedal cyclist injured in collision with heavy transport vehicle or bus, driver, traffic accident, while working for an income V12.18 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, passenger, nontraffic accident, while engaged in other specified activities V12.19 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, passenger, nontraffic accident, during unspecified activity V14.43 Pedal cyclist injured in collision with heavy transport vehicle or bus, driver, traffic accident, while engaged in other types of work V12.2 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, unspecified pedal cyclist, nontraffic accident V14.44 Pedal cyclist injured in collision with heavy transport vehicle or bus, driver, traffic accident, while resting, sleeping, eating or engaging in other vital activities V12.20 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, unspecified pedal cyclist, nontraffic accident, while engaged in sports activity V14.48 Pedal cyclist injured in collision with heavy transport vehicle or bus, driver, traffic accident, while engaged in other specified activities V12.21 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, unspecified pedal cyclist, nontraffic accident, while engaged in leisure activity V14.49 Pedal cyclist injured in collision with heavy transport vehicle or bus, driver, traffic accident, during unspecified activity V12.22 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, unspecified pedal cyclist, nontraffic accident, while working for an income V12.23 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, unspecified pedal cyclist, nontraffic accident, while engaged in other types of work V14.5 Pedal cyclist injured in collision with heavy transport vehicle or bus, passenger, traffic accident V12.24 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, unspecified pedal cyclist, nontraffic accident, while resting, sleeping, eating or engaging in other vital activities V14.50 Pedal cyclist injured in collision with heavy transport vehicle or bus, passenger, traffic accident, while engaged in sports activity V12.28 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, unspecified pedal cyclist, nontraffic accident, while engaged in other specified activities V14.51 Pedal cyclist injured in collision with heavy transport vehicle or bus, passenger, traffic accident, while engaged in leisure activity V12.29 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, unspecified pedal cyclist, nontraffic accident, during unspecified activity V14.52 Pedal cyclist injured in collision with heavy transport vehicle or bus, passenger, traffic accident, while working for an income V12.3 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, while boarding or alighting V14.53 Pedal cyclist injured in collision with heavy transport vehicle or bus, passenger, traffic accident, while engaged in other types of work V12.30 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, while boarding or alighting, while engaged in sports activity V14.54 Pedal cyclist injured in collision with heavy transport vehicle or bus, passenger, traffic accident, while resting, sleeping, eating or engaging in other vital activities V12.31 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, while boarding or alighting, while engaged in leisure activity V14.58 Pedal cyclist injured in collision with heavy transport vehicle or bus, passenger, traffic accident, while engaged in other specified activities V12.32 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, while boarding or alighting, while working for an income V14.59 Pedal cyclist injured in collision with heavy transport vehicle or bus, passenger, traffic accident, during unspecified activity V12.33 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, while boarding or alighting, while engaged in other types of work V12.34 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, while boarding or alighting, while resting, sleeping, eating or engaging in other vital activities V14.9 Pedal cyclist injured in collision with heavy transport vehicle or bus, unspecified pedal cyclist, traffic accident V12.38 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, while boarding or alighting, while engaged in other specified activities V14.90 Pedal cyclist injured in collision with heavy transport vehicle or bus, unspecified pedal cyclist, traffic accident, while engaged in sports activity V12.39 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, while boarding or alighting, during unspecified activity V14.91 Pedal cyclist injured in collision with heavy transport vehicle or bus, unspecified pedal cyclist, traffic accident, while engaged in leisure activity V14.92 Pedal cyclist injured in collision with heavy transport vehicle or bus, unspecified pedal cyclist, traffic accident, while working for an income V12.4 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, driver, traffic accident V14.93 Pedal cyclist injured in collision with heavy transport vehicle or bus, unspecified pedal cyclist, traffic accident, while engaged in other types of work V12.40 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, driver, traffic accident, while engaged in sports activity V14.94 Pedal cyclist injured in collision with heavy transport vehicle or bus, unspecified pedal cyclist, traffic accident, while resting, sleeping, eating or engaging in other vital activities V12.41 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, driver, traffic accident, while engaged in leisure activity V14.98 Pedal cyclist injured in collision with heavy transport vehicle or bus, unspecified pedal cyclist, traffic accident, while engaged in other specified activities V12.42 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, driver, traffic accident, while working for an income V14.99 Pedal cyclist injured in collision with heavy transport vehicle or bus, unspecified pedal cyclist, traffic accident, during unspecified activity V12.43 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, driver, traffic accident, while engaged in other types of work V12.44 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, driver, traffic accident, while resting, sleeping, eating or engaging in other vital activities V15 Pedal cyclist injured in collision with railway train or railway vehicle V12.48 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, driver, traffic accident, while engaged in other specified activities V12.49 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, driver, traffic accident, during unspecified activity V12.5 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, passenger, traffic accident V12.50 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, passenger, traffic accident, while engaged in sports activity V12.51 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, passenger, traffic accident, while engaged in leisure activity V12.52 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, passenger, traffic accident, while working for an income V12.53 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, passenger, traffic accident, while engaged in other types of work V12.54 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, passenger, traffic accident, while resting, sleeping, eating or engaging in other vital activities V12.58 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, passenger, traffic accident, while engaged in other specified activities V12.59 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, passenger, traffic accident, during unspecified activity V12.9 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, unspecified pedal cyclist, traffic accident V15.0 Pedal cyclist injured in collision with railway train or railway vehicle, driver, nontraffic accident V15.00 Pedal cyclist injured in collision with railway train or railway vehicle, driver, nontraffic accident, while engaged in sports activity V15.01 Pedal cyclist injured in collision with railway train or railway vehicle, driver, nontraffic accident, while engaged in leisure activity V15.02 Pedal cyclist injured in collision with railway train or railway vehicle, driver, nontraffic accident, while working for an income V15.03 Pedal cyclist injured in collision with railway train or railway vehicle, driver, nontraffic accident, while engaged in other types of work V15.04 Pedal cyclist injured in collision with railway train or railway vehicle, driver, nontraffic accident, while resting, sleeping, eating or engaging in other vital activities V15.08 Pedal cyclist injured in collision with railway train or railway vehicle, driver, nontraffic accident, while engaged in other specified activities V15.09 Pedal cyclist injured in collision with railway train or railway vehicle, driver, nontraffic accident, during unspecified activity V15.1 Pedal cyclist injured in collision with railway train or railway vehicle, passenger, nontraffic accident V15.10 Pedal cyclist injured in collision with railway train or railway vehicle, passenger, nontraffic accident, while engaged in sports activity V15.11 Pedal cyclist injured in collision with railway train or railway vehicle, passenger, nontraffic accident, while engaged in leisure activity V12.90 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, unspecified pedal cyclist, traffic accident, while engaged in sports activity V15.12 Pedal cyclist injured in collision with railway train or railway vehicle, passenger, nontraffic accident, while working for an income V12.91 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, unspecified pedal cyclist, traffic accident, while engaged in leisure activity V15.13 Pedal cyclist injured in collision with railway train or railway vehicle, passenger, nontraffic accident, while engaged in other types of work V12.92 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, unspecified pedal cyclist, traffic accident, while working for an income V15.14 Pedal cyclist injured in collision with railway train or railway vehicle, passenger, nontraffic accident, while resting, sleeping, eating or engaging in other vital activities V12.93 Pedal cyclist injured in collision with two- or three-wheeled motor vehicle, unspecified pedal cyclist, traffic accident, while engaged in other types of work V15.18 Pedal cyclist injured in collision with railway train or railway vehicle, passenger, nontraffic accident, while engaged in other specified activities V15.19 Pedal cyclist injured in collision with railway train or railway vehicle, passenger, nontraffic accident, during unspecified activity 18 ICD is used for lots of (too many?) things! • ICD is used to code all patient encounters with the health-care system for purposes of – – – – – Billing and reimbursement Institutional planning Disease surveillance and public health Quality assurance Economic modeling by third-party payors • ICD was never intended to make the distinctions relevant to all these tasks! • When patient encounters are encoded with ICD, it is impossible to keep all these uses in mind 19 If real ontologists could build the ICD from scratch … • Diseases would be organized with well-defined relationships • Diseases would be associated with computerunderstandable definitions • There would be well-defined rules to enable aggregation of primitive concepts into complex descriptions—and for ensuring that those descriptions were sensible • There would be well-defined mechanisms for creating use-specific views of the ICD 20 The pressing need to standardize the names of human genes 21 But the human genome is only part of the problem … • Scientist maintain huge databases of gene sequences and gene expression for a wide range of “model organisms” (e.g., mouse, rat, yeast, fruit fly, round worm, slime mold) • Database entries are annotated with the entries such as the name of a gene, the function of the gene, and so on • How do you ensure uniformity in the nature of these annotations? 22 Gene Ontology Consortium • Founded in 1998 as a collaboration among scientists responsible for developing different databases of genomic data for model organisms (fruit fly, yeast, mouse) • Now, essentially all developers of all modelorganism databases participate • Goal: To produce a dynamic, controlled vocabulary that can be applied to all organism databases even as knowledge of gene and protein roles in cells is accumulating and changing 23 Gene Ontology (GO) • Comprises three independent “ontologies” – molecular function of gene products – cellular component of gene products – biological process representing the gene product’s higher order role. • Uses these terms as attributes of gene products in the collaborating databases (gene product associations) • Allows queries across databases using GO terms, providing linkage of biological information across species 24 GO = Three Ontologies • Molecular Function – elemental activity or task – example: DNA binding • Cellular Component – location or complex – example: cell nucleus • Biological Process – goal or objective within cell – example: secretion 25 26 GO has been wildly successful!! • Dozens of biologists around the world contribute to GO on a regular basis • The ontology is updated every 30 minutes! • It’s now impossible to work in most areas of computational biology without making use of GO terms 27 But GO has real problems … • Ontologies are represented in an idiosyncratic format that is not compatible with standard knowledge-representation systems • The format is based on directed acyclic graphs of concepts, without the general ability to specify machine interpretable properties of concepts or definitions of concepts • Because of the informal knowledge-representation system, lots of errors have crept into GO – Terms that are duplicated in different places – Terms with no superclasses – Uncertain relationships between terms 28 29 Tension in the GO Community • Biologists around the world with pressing needs to integrate research databases work together to add terms to GO nearly continuously – Using an impoverished, nonstandard knowledgerepresentation system – Using no standards to assure uniform modeling conventions from one part of GO to another • Computer scientists bemoan all this ad-hoc-ery and condemn GO as a hack that will become increasingly unusable and unmaintainable 30 A wonderful keynote talk from the recent meeting on Standards and Ontologies for Functional Genomics The Capulets and Montagues A plague on both your houses? Professor Carole Goble University of Manchester, UK Warning: This talk contains sweeping generalisations 31 Carole Goble Prologue Two households, both alike in dignity, In fair genomics, where we lay our scene, (One, comforted by its logic’s rigour, Claims ontology for the realm of pure, The other, with blessed scientist’s vigour, Acts hastily on models that endure), From ancient grudge break to new mutiny, When “being” drives a fly-man to blaspheme. From forth the fatal loins of these two foes Researchers to unlock the book of life; Whole misadventured piteous overthrows Can with their work bury their clans’ strife. The fruitful passage of their GO-mark'd love, And the continuance of their studies sage, Which, united, yield ontologies undreamed-of, Is now the hours' traffic of our stage; The which if you with patient ears attend, What here shall miss, our toil shall strive to mend. 32 Based on an idea by Shakespeare Carole Goble The Montagues One, comforted by its logic’s rigour, Claims ontology for the realm of pure Computer Science, Knowledge engineering, AI Logic and Languages Theory Top down, well-behaved neatness Generic and lots of toys Methodologies & patterns Tools and standards Technology push Academic pursuit 33 Carole Goble The Capulets The other, with blessed scientist’s vigour, Acts hastily on models that endure Life Scientists Practice Bottom up, real-world Specific and many of them Methodologies, community practice Tools and standards Application pull Practical pursuit – build ‘n’ use it 34 Carole Goble The Philosophers One, comforted by its logic’s rigour, Claims ontology for the realm of pure Philosophers Theory Truth Generic – the one true ontology? Methodologies, patterns & foundational ontologies Not really into tools No push or pull Academic pursuit 35 Carole Goble Endurants, Perdurants, Being, Substance, Event Philosophers KR Montagues The end Mechanism providers Life Scientists Capulets A means to an end Content providers 36 Carole Goble The Princes of Genomics Rebellious subjects, enemies to peace, Profaners of this neighbour-stained steel,-Will they not hear? What, ho! you men, you beasts, That quench the fire of your pernicious rage With purple fountains issuing from your veins, On pain of torture, from those bloody hands Throw your mistemper'd weapons to the ground, And hear the sentence of your moved prince. Three civil brawls, bred of an airy word, By thee, old Capulet, and Montague, Have thrice disturb'd the quiet of our streets, And made genomics's ancient citizens Cast by their grave beseeming ornaments, To wield old partisans, in hands as old, Canker'd with peace, to part your canker'd hate: 37 A tragedy? As in Romeo and Juliette, the threats are political and sociological 38 Creating ontologies has become a widespread cottage industry • Professional Societies – MGED: Microarray Gene Expression Data Society – HUPO: Human Protein Organization • Government – NCI Thesaurus – NIST: Process Specification Language • Open Biological Ontologies – GO – Three dozen (and growing) other ontologies – Mostly in DAG-Edit, some in Protégé format 39 40 Government Continues to be a Major Driving Force • Highly visible intramural initiatives to create public ontologies at many agencies, including NIST, NIH, VA, CDC • Notable variation in these ontologies’ – – – – Scope Representational sophistication “Openness” of content Opportunities for peer review 41 NCI Enterprise Vocabulary Services 1997: R. Klausner, Director NCI, wanted a “science management system” • Know about everything funded by NCI • Goals and results – “bench to bedside” - Thereby improve and speed translation of research Approach: 1. Create integrative terminology 2. Evolve terminology scope from supporting grants management to supporting science 3. Build Web-accessible infrastructure – caCORE 42 43 More than 37,000 concepts are represented with extremely detailed granularity in many areas 44 Definitions may include considerable detail with respect to properties that establish relationships with other concepts 45 NCI Thesaurus is in Active Use nciterms.nci.nih.gov ncicb.nci.nih.gov/core/EVS (more info) Website: 1500-4000 page hits daily, 14K unique visitors (2004) • API: NCICB & external applications • Fulfills NCI and collaborators’ needs for controlled vocabulary • Public domain, open content license 46 NCI Thesaurus Guidelines • Develop content model (based on Ontylog description logic from Apelon, Inc.) • Leverage existing sources as appropriate – MeSH, VA NDF-RT, MedDRA … • Develop unique content where needed – Cancer genes, gene products, cancer diagnoses, drugs, chemotherapies, molecular abnormalities etc., and relationships among them • Link to other standards using URLs where possible – OMIM, Swissprot, GO 47 : NCI uses an Elaborate Process for Editing and Maintenance 48 The NCI Thesaurus is not without its problems • Upper level concepts are sometimes used inconsistently or not at all • Textual definitions of concepts may not always reflect the meaning implied by the concepts’ position in the ontology • Reliance on a proprietary knowledgerepresentation system – Prevents the ability to disseminate the ontology freely – Adds an unfortunate degree of uncertainty to the semantics 49 Throughout this cottage industry • Lots of ontology development, principally by content experts with little training in conceptual modeling • Use of development tools and ontology-definition languages that may be – Extremely limited in their expressiveness – Useless for detecting potential errors and guiding correction – Nonadherent to recognized standards – Proprietary and expensive 50 But the world is beginning to change! • The Montagues do want to get the modeling right! • The Capulets do want to see their work used by others! • Useful, open tools and standards are now available that make it hard to justify closed, proprietary approaches 51 Some signs the world is changing … • Developers of several overlapping and incompatible ontologies of anatomy suddenly are trying to understand why their models do not agree • Philosopher Barry Smith suddenly is camping out at biomedical informatics meetings to get the attention of ontology developers • NCI is piloting the use of OWL and Protégé to encode and manage the NCI thesaurus • MGED and several other biomedical ontologies are being authored in OWL and Protégé from the beginning • Downloads of the Protégé system continue to escalate 52 53 Total Protege Registrations Month/Year Oct '04 Jul '04 Apr '04 Jan '04 Oct '03 Jul '03 Apr '03 Jan '03 Oct '02 Jul '02 Apr '02 Jan '02 Oct '01 Jul '01 Apr '01 22000 21000 20000 19000 18000 17000 16000 15000 14000 13000 12000 11000 10000 9000 8000 7000 6000 5000 4000 3000 2000 1000 0 Jan '01 Registrations Through 10/13/04 54 Protégé’s main features • Simplified editing of ontologies and knowledge bases • Open-source distribution to encourage development by a world-wide community of users • A plug-in architecture that enables developers to add new features easily • Support for a wide range of representation formats – – – – – CLIPS/COOL XML Schema UML RDF OWL 55 Protégé is ecumenical in its support for formal languages • Open Knowledge Base Connectivity Protocol – – – – – CLIPS/COOL UML XML Schema RDF and RDFS Topic Maps • Ontology Web Language (OWL) 56 Protégé remains successful because of its user community • There are now 89 plug-ins available for use with Protégé • Collaboration with our users enables rapid debugging and code fixes • Some development, such as the creation of extensions to our basic OWL capabilities, has been a major collaborative experience • Annual users groups meetings provide great opportunities for developers to share strategies, principles, and war stories • Members of the international Protégé community are a huge support base for new users and for fledgling projects 57 The NCI Thesaurus 58 Bio-Pathway ontologies 59 Content Standard for Geospatial Metadata (Federal Geographic Data Committee) 60 Egyptian Crop Pests 61 Moving from cottage industry to the industrial age • There must be widely available tools that are open-source, that are easy to use, and that adhere to knowledge representation standards: Protégé certainly is a candidate • There must be a large user user community of developers who use the tools and who can provide feedback to one another and to the core team of tool builders 62 Moving from cottage industry to the industrial age II • Government and professional societies must set expectations regarding the need for appropriate standards • Government and professional societies must invest in educational programs to teach Montagues to identify with Capulets, and vice versa • Demonstration projects must communicate to the potential developers of future ontologies the strengths and weaknesses of the guidelines, tools, and languages that facilitated the development work 63 A thousand flowers are blooming from every corner of the landscape • Ontologies are being developed by interested groups from every sector of academia, industry, and government • Many of these ontologies have been proven to be extraordinarily useful to wide communities • Many of these same ontologies have been shown to be structurally flawed and of uncertain semantics • We finally are at the stage where we have tools and representation languages that can lift us out of the grass roots to create durable and maintainable ontologies with rich semantic content 64 An infrastructure is now in place • The need to build new ontologies in environmental health, phenotypic expression in model organisms, developmental biology, and many, many other domains is getting wide attention • We finally have the tools and the languages to do things right • Now all we need now is the will, the educational opportunities, and the community feedback to help developers at the grass roots to reemerge as philosophers and princes. 65 Let’s have a happy ending. 66