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From Classifications and Coding systems to Ontology: the role of a CEN standard: The categorial structure. JM Rodrigues ,B Trombert ,C Martin and P Vercherin . University of Saint Etienne, Department of Public health and medical Informatics rodrigues@univ-st-etienne.fr.
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From Classifications and Coding systems to Ontology: the role of a CEN standard: The categorial structure JM Rodrigues ,B Trombert ,C Martin and P Vercherin . University of Saint Etienne, Department of Public health and medical Informatics rodrigues@univ-st-etienne.fr EFMI TIMISOARA USE
Terminology ,Ontology and categorial structure • 1 Introduction • 2 Definitions • 3 Assessment of limitation of the knowledge supported by classifications and coding systems with Ontology driven Galen tools • 4 CEN standards on Categorial structures • 5 Discussion • 6 Conclusion EFMI TIMISOARA USE
Terminology ,Ontology and categorial structure • 1 Introduction • 2 Definitions • 3 Assessment of limitation of the knowledge supported by classifications and coding systems with Ontology driven Galen tools • 4 CEN standards on Categorial structures • 5 Discussion • 6 Conclusion EFMI TIMISOARA USE
TERMINOLOGY • Term + meaning (concept) • Terminology artefacts ( nomenclature ,flat list of controlled vocabularies ,classifications and thesaurus,coding system) • Used to analyse the reality from instances of universals (entities invariant in time and space) known or to know • Used by humans with flexibility and ambiguity EFMI TIMISOARA USE
ONTOLOGY vs TERMINOLOGY • Ontology :a representation of some pre-existing domain of reality • (1) reflects the properties of the entities within its domain in such a way that it obtains a systematic correlation between reality and the representation itself and the non ambiguous comparison between different representations of the reality • (2) is intelligible to a domain expert, • (3) is formalised in a way that allows it to support automatic information processing . • Distinct from Terminology EFMI TIMISOARA USE
ONTOLOGY vs TERMINOLOGY • 3 types for ontology • 1 Top level/Meta Ontology • 2 Domain Reference Ontology • Ontology for anatomy • Ontology for biology • Ontology for interventions • 3 Application Ontology Related to clinical terminologies • Galen 1 et 2 • FMA 2 • GALEN-CCAM ICHI and categorial structures 3 ? EFMI TIMISOARA USE
FIRST GENERATION TERMINOLOGICAL SYSTEMS 1 FIRST GENERATION * presentation : systematic list(typically with codes) , alphabetical index with permutations * organization : fixed (typically one, hierarchical) * purposes : devoted to a single application * flexibility NO * extension : restricted to author * processing on semantics : NO Examples : ICD9, ICD9 CM, ICD10 ICPM OPCS CDAM ICHI EFMI TIMISOARA USE
SECOND GENERATION TERMINOLOGICAL SYSTEMS 2 SECOND GENERATION *presentation : categorial structure + cross-thesaurus + lists (classifications, nomenclatures, ...) * organization : dynamic (multiple, hierarchical) * purposes : multiple * flexibility and extensions : Yes with restrictions new combinations can be made by users but without knowledge validation * processing on semantics : Yes but restricted to the predefined categorial structure Examples : SNOMED III, ICD10 PCS ,CCI,CCAM LOINC-LAB , DICOM-SDM (Snomed Dicom Microglossary :imaging) MCTGE Minimum Common Terminology for Gastro intestinal Endoscopy CISP/ICPC ,Braun, CIF,DSMIII and DSMIV EFMI TIMISOARA USE
THIRD GENERATION TERMINOLOGICAL SYSTEMS 3 THIRD GENERATION * presentation : categorial structure + cross-thesaurus + lists + knowledge based model / ontology model (all and only sensible medical concepts) * organization : dynamic (multiple, hierarchical) * purposes : multiple * flexibility and extensions : unrestricted new combinations validated by knowledge base model (by predefined combinatorial rules) * processing on semantics : Yes complete (formal processing) Examples : SNOMED-RT and –CT? GALEN FMA GO EFMI TIMISOARA USE
THIRD GENERATION TERMINOLOGICAL SYSTEMS Categorial structure Cross thesaurus Third generation terminology system Ontology model knowledge base Family of list phrases, classes EFMI TIMISOARA USE
TERMINOLOGY and ONTOLOGY • Third generation clinical terminologies are a set of terminological artefacts related to a knowledge representation of all and only sensible” concepts-universals” in a compositional structure allowing multiple hierarchies : this representation being a type of ontology . EFMI TIMISOARA USE
ACRONYMS. • GALEN (Generalised Architecture for Languages, Encyclopaedias and Nomenclatures in Medicine) • ICHI (International Classification of Health Interventions) • CCAM (Classification Commune des Actes Médicaux) • CEN standards on categorial structure • EN 12 264 Categorial structure • EN 1828 Categorial structure for surgical interventions EFMI TIMISOARA USE
Terminology ,Ontology and categorial structure • 1 Introduction • 2 Definitions • 3 Assessment of limitation of the knowledge supported by classifications and coding systems with Ontology driven Galen tools • 4 CEN standards on Categorial structures • 5 Discussion • 6 Conclusion EFMI TIMISOARA USE
Galen model • A two steps approach . Top down modelling by • -full categorisation of real world • -multiple inheritance composite concepts(meaning) hierarchy • -semantic relations between them • -sanctions tests constraining the composition of concepts Formal language GRAIL (Galen Representation and Integration Language). Bottom up extension • -pragmatic reverse engineering • -surgical interventions :GALEN-In-USE • -centres in Belgium,Finland,France,Germany, Greece,Italy,The Netherlands,UK , Sweden • - diagnostic Hungary • 9400 sensible tests EFMI TIMISOARA USE
GALEN CORE Model top level category space EFMI TIMISOARA USE
Extended GALEN scheme for Surgical Procedure (GASP) EFMI TIMISOARA USE
CCAM(Classification Commune des Actes Médicaux) as a case studyGALEN (Generalised Architecture for Languages, Encyclopaedias and Nomenclatures in Medicine) • CCAM development • Domain experts consensus in French language • GALEN tools application • Semi formal representation by junior physicians • Mapping to GRAIL language GALEN formal representation • Natural language processing generation to French language • Conformance to European standard EN 1828 • GALEN representation for 7478 surgical procedures • 700 new concepts • Using 2400 descriptors and 59 semantic links EFMI TIMISOARA USE
CCAM- GALEN - representation • 7478 rubrics of composite surgical procedures (X3) • 2400 concept descriptors and 59 semantic links • 2400 descriptors, • 1297 descriptors for Anatomy category with 30 semantic categories • 271 descriptors for Pathology category • 231 descriptors for Device category • 186 descriptors for Deed category • 59 semantic links • 27 4 categories • 7 only for Pathology (motivated by ,to achieve et..) EFMI TIMISOARA USE
RELATION BETWEEN MODELLING CENTRES AND REPRESENTATION MANAGER CENTRE controlled linguistic expression Reference terminology representation REPRESENTATION MANAGER CENTRE Cross validation Knowledge acquisition MODELLING CENTRES linguistic expression Intermediate representation EFMI TIMISOARA USE
Generated sentences En: exeresis of an intracranial abscess by craniotomy Fr: exérèse d'un abcès intracrânien par craniotomie It: exeresi di un acesso intracranico con craniotoma G A [SurgicalDeed]- (isMainlyCharacterisedBy)->[performance]- (isEnactmentOf)->[SurgicalExcising]- (actsSpecificallyOn)->[Abscess]- (isContainedIn)->[IntracranialSpace]\ (hasSpecificSubprocess)->[SurgicalApproaching]- (hasSpecificSubprocess)->[SurgicalIncising]- (actsSpecificallyOn)->[Skull]\\\\\. Original rubric: French CCAM, code: n388 Exérèse d'un abcès endocrânien par craniotomie Linguistic and Conceptual Assessments(adapted from Baud and Rassinoux) GALEN expression GENERATOR [GeneralisedProcess]- (playsClinicalRole)->[SurgicalRole] (isMainlyCharacterisedBy)->[performance]- (isEnactmentOf)->[Excising]- (hasSpecificSubprocess)->[Accessing]- (hasSpecificSubprocess)->[Incising]- (actsSpecificallyOn)->[Skull] (playsClinicalRole)->[SurgicalRole]\ (playsClinicalRole)->[SurgicalRole]\ (actsSpecificallyOn)->[BodyCavity]- (isSpaceDefinedBy)->[TruelyHollowBodyStructure] (isContainedIn)->[IntracranialSpace] (contains)->[Pus] (hasPathologicalStatus)->[pathological]\ (playsClinicalRole)->[SurgicalRole]\\\. CCAM assessment Compositional modeling evaluation Linguisticevaluation EFMI TIMISOARA USE
Step 1 MAKE AN INTERMEDIATE DISSECTION(claw ) 1) RUBRIQUE INITIALE U2.050 Résection endoscopique cervico-prostatique, avec urétrotomie à l’aveugle, urétrocystoscopie et mise en place d'une sonde urétrale. 2) DISSECTION INTERMEDIAIRE RUBRIC "Résection endoscopique cervico-prostatique, avec urétrotomie à l'aveugle, urétrocystoscopie et mise en place d'une sonde urétrale" SOURCE USE CODE "U2.050" MAIN resecting ACTS_ON Anatomy: neck_of_urinary_bladder & prostate BY_MEANS_OF endoscope BY_TECHNIQUE inspecting ACTS_ON Anatomy: urinary bladder & urethra BY_MEANS_OF Device : endoscope WITH_GUIDANCE_BY Device : endoscope WITH installing ACTS_ON Device: catheter HAS_DESTINATION Anatomy: urethra WITH incising ACTS_ON Anatomy: urethra HAS_APPROACH closed approach EFMI TIMISOARA USE
Step 2Expand to formal Representation 3) GRAIL REPRESENTATION [cl_SurgicalDeed,[rel_isMainlyCharacterisedBy([cl_performance,[rel_isEnactmentOf([cl_NLGCPT_Resecting,[rel_actsSpecificallyOn([cl_ArbitraryBodyConstruct,[rel_hasStructuralComponent(cl_UrinaryBladderNeck),rel_hasStructuralComponent(cl_ProstateGland)]]),rel_hasSpecificPhysicalMeans(cl_Endoscope),rel_hasSpecificSubprocess([cl_Inspecting,[rel_actsSpecificallyOn([cl_ArbitraryBodyConstruct,[rel_hasStructuralComponent(cl_UrinaryBladder),rel_hasStructuralComponent(cl_Urethra)]]),rel_hasSpecificPhysicalMeans(cl_Endoscope)]])]])]]),rel_isCharacterisedBy([cl_performance,[rel_isEnactmentOf([cl_NLGCPT_InstallingProcess,[rel_LocativeAttribute([cl_Catheter,[rel_isActedOnSpecificallyBy([cl_Transport,[rel_hasSpecificConsequence([cl_Displacement,[rel_hasBetaConnection(cl_Urethra)]])]])]])]])]]),rel_isCharacterisedBy([cl_performance,[rel_isEnactmentOf([cl_NLGCPT_Incising,[rel_actsSpecificallyOn(cl_Urethra),rel_hasSpecificSubprocess([cl_SurgicalApproaching,[rel_hasSurgicalOpenClosedness([cl_SurgicalOpenClosedness,[rel_hasAbsoluteState(cl_surgicallyClosed)]])]])]])]])]] EFMI TIMISOARA USE
Step 3Controlled natural language generation Original:résection endoscopique cervico-prostatique, avec urétrotomie à l’aveugle, urétrocystoscopie et mise en place d'une sonde urétrale Génération sans contraction : acte chirurgical de résection endoscopique d'une entité corporelle ayant pour partie le col de la vessie et ayant pour partie la prostate sous inspection endoscopique d'une entité corporelle ayant pour partie la vessie et ayant pour partie l'urètre avec mise en place d'un cathéter dans l'urètre et avec incision urétrale et fermée. Génération avec contraction : résection sous endoscope du col de la vessie et de la prostate avec inspection endoscopique de l’urètre et de la vessie avec incision fermée de l’urètre et mise en place d’un cathéter dans l’urètre EFMI TIMISOARA USE
QA with ontology driven tools initial rubric : Lithotritie extracorporelle d’une lithiase unique pyélique ou calicielle inférieure, avec repérage échographique et drainage urétéral generated label :extractiond'un calcul unique du bassinet ou du calice inférieur avecfragmentationpar un lithotripteur extra-corporel et avec imageriepar échographie pour repérage du calcul et avecévacuationdu calcul par l'uretère Lithotrypsy is replaced by extracting a lithiasis with 3 sub-processes:fragmenting by means of a device ,imagingand draining: The calculus is outside of the body as the outcome of the intervention EFMI TIMISOARA USE
QA with ontology driven tools initial rubric : Lithotritie extracorporelle d’un calcul de l'uretère lombaire, sans drainage, chez la femme, avec repérage radiologique generated label :fragmentationd'un calcul de l'uretère lombaire par un lithotripteur extra-corporel avecimageriepar radiographie pour repérage sans évacuation du calcul chez la femme Lithotrypsy is replaced by only 2 sub-processes:fragmenting by means of a Lithotrypsy device andimagingwithout the finalised goalextracting The calculus is inside the body as an outcome of the intervention EFMI TIMISOARA USE
QA with ontology driven tools: What is an arthroplasty ? A plastic repairing of the components of a joint Without installing a prothesis to replace the joint R0027b Arthroplastie acromio-claviculaire par résection de l'extrémité latérale de la clavicule, par arthroscopie R0026b Arthroplastie acromio-claviculaire par résection de l'extrémité latérale de la clavicule, par arthrotomie R0025b Arthroplastie sterno-claviculaire par résection de l'extrémité médiale de la clavicule, par arthrotomie » R0289b Arthroplastie d'une articulation d'un rayon de la main.A l'exclusion de : arthroplastie de l'articulation carpo-métacarpienne du pouce » R0063b Arthroplastie scapulo-humérale non prothétique ’ R0119b Arthroplastie non prothétique du coude, à ciel ouvert' EFMI TIMISOARA USE
QA with ontology driven tools: What is an arthroplasty ? installing a prothesis within the joint to replace at least a part of it R0232b Arthroplastie du poignet par prothèse partielle, à ciel ouvert R0847 Arthroplastie inter somatique par prothèse discale R1285b Reconstruction de l'articulation du genou par prothèse massive ou sur mesure, après perte de substance segmentaire.Avec ou sans : reconstruction de l'appareil extenseur R0064 Arthroplastie scapulo humérale par prothèse humérale unipolaire ou par cupule mobile R0231 Arthroplastie radio carpienne par prothèse totale à ciel ouvert R0403 Arthroplastie coxo-fémorale par cupule fémorale EFMI TIMISOARA USE
QA with ontology driven tools: What is an arthroplasty ? installing a prothesis within the joint to replace at least a part of it or A plastic repairing of the components of a joint Without installing a prothesis to replace the joint? R0290b Arthroplastie de plusieurs articulations d'un rayon de la main R0289b Arthroplastie d'une articulation d'un rayon de la main.A l'exclusion de : arthroplastie de l'articulation carpo-métacarpienne du pouce R0233 Arthroplastie de l’articulation carpo-métacarpienne du pouce avec ou sans plastie de l’appareil capsulo ligamentaire EFMI TIMISOARA USE
QA with ontology driven tools Initial rubric"Hystérectomie avec annexectomie (unilatérale)(bilatérale), par voie vaginale, avec coeliopréparation Means Hysterectomy by vaginal approach and a coelioscopy Generated label : Exérèse de l’utérus et exérèse uni ou bilatérale des annexes de l’utérus par voie vaginale après mobilisation de l’utérus et des annexes au cours d’une coelioscopie Means First a coelioscopy to test if the uterus and the annexa are enough mobile to allow their removal through the vagina Second time the removal of the organs by a vagina approach if enough mobile OR by an abdominal approach if not enough mobile EFMI TIMISOARA USE
GALEN-CCAM lessons • Experience • Observation • Evidence vs God belief • End users are human beings • How to support ambiguity • To allow linguistic ambiguity monitoring for humans • Description logic is necessary for machine:computers EFMI TIMISOARA USE
GALEN (Generalised Architecture for Languages, Encyclopaedias and Nomenclatures in Medicine)METHOD • ICHI Initial rubrics • Semi formal representation by • University of Saint Etienne (France) • Radboud University Nijmegen (The Netherlands) • Mapping to GRAIL language GALEN formal representation • University of Manchester (UK) • Natural Language Processing generation to English, Portuguese and French languages • University Hospitals of Geneva (Switzerland) • University of Freiburg (Germany) • Conformity to European Standards EN 1828 and EN 12264 EFMI TIMISOARA USE
Step One Make an INTERMEDIATE DISSECTION 1) INITIAL RUBRIC ICHI –chapterXV,1381 Immobilisation of fracture or dislocation of spine 2) INTERMEDIATE DISSECTION RUBRIC “Immobilisation of fracture or dislocation of spine” MAIN immobilising • ACTS_ON spine • BY_MEANS_OF device • MOTIVATED_OVERALL_BY curing • ACTS_ON fracture • HAS_LOCATION spine • OTHER_THAN reducing (a fracture) • ACTS_ON spine • HAS_APPROACH closed • OR_MAIN immobilising • ACTS_ON spine • BY_MEANS_OF device • MOTIVATED_OVERALL_BY curing • ACTS_ON dislocation • HAS_LOCATION spine • OTHER_THAN reducing (a dislocation) • ACTS_ON spine • HAS_APPROACH closed EFMI TIMISOARA USE
Step 2Expand to Formal Representation 3) GRAIL REPRESENTATION [[SurgicalDeed]- (isMainlyCharacterisedBy)->[performance]- (isEnactmentOf)->[[Immobilizing]- (playsClinicalRole)->[SurgicalRole]\]- (actsSpecificallyOn)->[SpinalColumn] (hasPhysicalMeans)->[Device]\\ (hasGoal)->[[NormalisingProcess]- (playsClinicalRole)->[SurgicalRole]\]- (actsSpecificallyOn)->[DislocationLesion]- (involves)->[SpinalColumn]\\ (isCharacterisedBy)->[nonPerformance]- (isEnactmentOf)->[[[Aligning]- (hasSpecificGoal)->[NormalisingProcess]\]- (playsClinicalRole)->[SurgicalRole]\]- (actsSpecificallyOn)->[SpinalColumn] (hasSpecificSubprocess)->[SurgicalApproaching]- (hasSurgicalOpenClosedness)->[SurgicalOpenClosedness]- (hasAbsoluteState)->[surgicallyClosed]\\\\\]. EFMI TIMISOARA USE
Step 3Natural language generation Original:ICHI-Chapter XV, 1381 - en Immobilisation of fracture or dislocation of spine English : Immobilizing of the spine by means of a device, for treatment of a dislocation lesion of the spine, without closed reduction of the spine. Portuguese : Imobilização da coluna vertebral por meio de um dispositivo, para tratamento de uma luxaçaõ da coluna vertebral, sem redução fechada da coluna vertebral. French : Immobilisation de la colonne vertébrale au moyen d'un instrument, pour traitement d'une luxation de la colonne vertébrale, sans réduction fermée de la colonne vertébrale. EFMI TIMISOARA USE
QA Inconsistent Usage initial rubric :ICHI-Chapter XV,1518 Arthroplasty of knee generated label : En :Repairing of the knee joint . Po:Reparação da articulacâo do joelho. Fr: Réparation de l’articulation du genou. initial rubric :ICHI-Chapter XV,1519 Arthroplasty of knee with bone graft to femur or tibia generated label : En :Replacement of the knee joint with a prosthesis of the knee joint,with installation of bone graft tissue in the femur or the tibia by means of harvesting bone . Po:Substituição da articulacâo do joelho cum una prótese da articulacâo do joelho, cum instalacão de transplante de tecido deosso no fémur ou na tíbia por meio de colhida do osso. Fr: Remplacement de l’articulation du genou par une prothèse de l’articulation du genou avec mise en place de tissu osseux greffé sur le fémur ou le tibia au moyen de prélèvement osseux. EFMI TIMISOARA USE
QA Inconsistent Usage initial rubric :ICHI-Chapter XV,1589 Arthroplasty of hip joint generated label : En :Repairing of the hip joint . Plastic repairing or Hip replacement with a prosthesis? Po:Reparação da articulacâo do anca/quadril. Reparação plástico ou Substituição da articulacâo do anca cum una prótese ? Fr: Réparation de l’articulation de la hanche. Réparation plastique ou Prothèse de hanche? EFMI TIMISOARA USE
Terminology ,Ontology and categorial structure • 1 Introduction • 2 Definitions • 3 Assessment of limitation of the knowledge supported by classifications and coding systems with Ontology driven Galen tools • 4 CEN standards on Categorial structures • 5 Discussion • 6 Conclusion EFMI TIMISOARA USE
1 Definition in natural language • 2 Categorial structure ENV 12 264 • 3 Categorial structure EN 1828 • 4 Categorial structure EN 12 264 • 5 Categorial structure prENCatanat EFMI TIMISOARA USE
EN 12 264 ( Categorial structure) : Minimal set of domain constraints to represent a biomedical terminology in a precise domain with a precise goal to communicate safely. • a)list of semantic categories • b)goal of the categorial structure • c) list of semantic links authorised with their associated semantic categories, • d)minimal constraints allowing the generation and validation of well formed terminological phrases . EFMI TIMISOARA USE
1 Definition in natural language • 2 Categorial structure ENV 12 264 • 3 Categorial structure EN 1828 • 4 Categorial structure EN 12 264 • 5 Categorial structure prENCatanat EFMI TIMISOARA USE
ENV 1828 ( Categorial structure for classifications and coding systems of surgical procedures) • ENV 12 264 ( Categorial structure) : a reduced system of concepts (3.10)made of semantic categories (3.16), which can point out the most significant regularities that can be exploited in the system of concepts analysed. • a)list of the semantic categories • b) for each base semantic category, a list of relevant semantic links (3.22) • c) for each base semantic category and each semantic link, a list of associated semantic categories • d) for each base semantic category, the combinatorial rules that allow generation or verification of well-formed concepts. EFMI TIMISOARA USE
ENV 1828 ( Categorial structure for classifications and coding systems of surgical procedures) • ENV 12 264 ( Categorial structure) : a reduced system of concepts (3.10)made of semantic categories (3.16), which can point out the most significant regularities that can be exploited in the system of concepts (3.10) analysed. • a)system of concepts : structured set of concepts established according to the relations between them ISO CD 1087-1 • b) semantic category, concept chosen to stand for a specified set of subordinate concepts, considered homogeneous • c) semantic link, unidirectional associative relation from a baseconcept • d) base semantic category, semantic category standing for a set of base concepts. EFMI TIMISOARA USE
1 Definition in natural language • 2 Categorial structure ENV 12 264 • 3 Categorial structure EN 1828 • 4 Categorial structure EN 12 264 • 5 Categorial structure prENCatanat EFMI TIMISOARA USE
EN 1828( Categorial structure for classifications and coding systems of surgical procedures) : reduced system of concepts (ENV12264)to describe the organisation of the semantic categories in a particular system of concepts for development, maintenance and application of terminological systems • a)list of concept categories:set of thematically related concepts • b)types of modifiers • c) semantic link, terminological phrase describing the interdependence between two related concepts • NOTE the semantic link usually describes an associative relation. • d) the combinatorial rules:rule which governs the construction of a terminological phrase EFMI TIMISOARA USE
Tab 1 EN1828 semantic categories EFMI TIMISOARA USE
Tab 2 EN 1828 semantic links EFMI TIMISOARA USE
1 Definition in natural language • 2 Categorial structure ENV 12 264 • 3 Categorial structure EN 1828 • 4 Categorial structure EN 12 264 • 5 Categorial structure prENCatanat EFMI TIMISOARA USE
EN 12 264 ( Categorial structure) : Minimal set of domain constraints (3.42) for representing concepts systems (3.4) in a precise domain (3.40) to achieve a precise goal • a) generic concepts (3.17) that organise the concepts (3.1) subdividing the concept system (3.4) in the domain (3.40):characterising category(3.33) • b) precise goal of the categorial structure (3.44) • c) list of type of characteristics (3.32) • d) list of minimal domain constraints (3.42) required by the goal of the categorial structure (3.44) EFMI TIMISOARA USE
EN 12 264 ( Categorial structure) : Minimal set of domain constraints (3.42) for representing concepts systems (3.4) in a precise domain (3.40) to achieve a precise goal • a)domain constraints:rule prescribing the set of representations of type of characteristics (3.32) that are valid to specialise a concept (3.1) in a certain domain • b)concept system:set of concepts (3.1) structured according to the relations among them ISO 1087-1 • c)domain:field of special knowledge ISO 1087-1 • d)goal of the categorial structure EFMI TIMISOARA USE