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SNOMED CT - ein künftiger terminologischer Standard für Life Science ? Stefan Schulz Institut für Medizinische Biometrie und Medizinische Informatik Universitätsklinikum.

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Präsentation zum Thema: "SNOMED CT - ein künftiger terminologischer Standard für Life Science ? Stefan Schulz Institut für Medizinische Biometrie und Medizinische Informatik Universitätsklinikum."—  Präsentation transkript:

1 SNOMED CT - ein künftiger terminologischer Standard für Life Science ? Stefan Schulz Institut für Medizinische Biometrie und Medizinische Informatik Universitätsklinikum Freiburg

2 SNOMED CT Standardized Nomenclature of Medicine – Clinical Terms: Terminologiesystem für die Kodierung von Inhalten in der elektronischen Patientenakte Konzipiert als weltweiter terminologischer Standard mit dem Schwerpunkt klinische Dokumentation (nicht biomedizinische Grundlagenwissenschaften!) Verbreitet von der 2007 gegründeten IHTSDO (International Health Terminology Standards Development Organisation): Mitgliedsstaaten: US, UK, AU, NZ, CA, DK, SE, NL, LV, (ES,…) (bisher nicht Deutschland) SNOMED CT Terminologie Logik Ontologie Trends Fazit Stefan Schulz: SNOMED CT - ein künftiger terminologischer Standard für Life Science ?

3 SNOMED CT: Facetten SNOMED CT als kontrolliertes Vokabular SNOMED CT als formales System SNOMED CT als Ontologie SNOMED CT: Trends SNOMED CT Terminologie Logik Ontologie Trends Fazit Stefan Schulz: SNOMED CT - ein künftiger terminologischer Standard für Life Science ?

4 SNOMED CT als kontrolliertes Vokabular SNOMED CT Terminologie Logik Ontologie Trends Fazit Stefan Schulz: SNOMED CT - ein künftiger terminologischer Standard für Life Science ?

5 SNOMED CT als kontrolliertes Vokabular Zuordnung von medizinischen Fachtermini (einschließlich Synonymen und Übersetzungen) zu sprachunabhängigen Konzepten z.Zt. 311 000 Konzepte z.Zt. 732 000 engl. Terme SNOMED CT Terminologie Logik Ontologie Trends Fazit Stefan Schulz: SNOMED CT - ein künftiger terminologischer Standard für Life Science ?

6 SNOMED CT als formales System SNOMED CT Terminologie Logik Ontologie Trends Fazit Stefan Schulz: SNOMED CT - ein künftiger terminologischer Standard für Life Science ?

7 SNOMED CT als formales System Hierarchien: Strikte Spezialisierung (is-a) SNOMED CT Terminologie Logik Ontologie Trends Fazit Stefan Schulz: SNOMED CT - ein künftiger terminologischer Standard für Life Science ?

8 SNOMED CT als formales System Restriktionen: auf einfacher Beschreibungslogik beruhend: C1 – Rel – C2 zu interpretieren als: x: instanceOf(x, C1) y: instanceOf(C2) Rel(x,y) Relationen (Attribute): z.B. Associated morphology Finding site (50 Relationstypen) SNOMED CT Terminologie Logik Ontologie Trends Fazit Stefan Schulz: SNOMED CT - ein künftiger terminologischer Standard für Life Science ?

9 SNOMED CT als formales System definierte vs. primitive Konzepte SNOMED CT Terminologie Logik Ontologie Trends Fazit Stefan Schulz: SNOMED CT - ein künftiger terminologischer Standard für Life Science ?

10 Defizit von nicht-formalen Ansätzen (frühere SNOMED-Versionen) D5-46210Acute appendicitis, NOS D5-46100Appendicitis, NOS G-A231Acute M-41000Acute inflammation, NOS G-C006In T-59200Appendix, NOS G-A231Acute M-40000Inflammation G-C006In T-59200Appendix, NOS SNOMED INTERNATIONAL Unterschiedliche Beschreibungen desselben Sachverhalts sind nicht aufeinander abbildbar Aneinanderreihung von Konzepten und Relationen nicht eindeutig interpretierbar SNOMED CT Terminologie Logik Ontologie Trends Fazit

11 Vorteil von formalen Beschreibungen Unterschiedliche Beschreibungen desselben Sachverhalts können durch maschinelle Reasoner auf eine kanonische Beschreibung abgebildet werden Bedeutung der (definierten) Klassen ist durch logische Sprache eindeutig erkennbar …aber… SNOMED CT Terminologie Logik Ontologie Trends Fazit Stefan Schulz: SNOMED CT - ein künftiger terminologischer Standard für Life Science ?

12 Immenser Pflegeaufwand (Gesamtsystem muss immer konsistent gehalten werden) Vollständige Klassifikation überfordert gegenwärtige Reasoner bzw. erzwingt schmerzhafte Abstriche in der Mächtigkeit der Beschreibungssprache Gefahr inadäquater Schlüsse Amputation of toe is_a amputation of foot Proximal hemiphalangectomy of toe is_a Amputation of toe. Absence of liver or gallbladder NOS is_a Congenital absence of liver and gallbladder Risiko formalen Beschreibungen SNOMED CT Terminologie Logik Ontologie Trends Fazit Stefan Schulz: SNOMED CT - ein künftiger terminologischer Standard für Life Science ?

13 SNOMED CT als Ontologie SNOMED CT Terminologie Logik Ontologie Trends Fazit Stefan Schulz: SNOMED CT - ein künftiger terminologischer Standard für Life Science ?

14 SNOMED CT als Ontologie Ordnung der Domäne nach ihren generischen, invarianten Eigenschaften Toplevel-Ontologie: idealerweise nichtüberlappende Kategorien mit strikt definierten Kriterien (z.B. process, object, substance, quality) Relationen-Ontologie: idealerweise präzise definierte Kernrelationen (z.B. part-of, has-location, …) Ontological commitment: Festlegung, was eine Ontologie beschreibt: Dinge der Welt (z.B. mein Thoraxschmerz) Dokumentationsobjekte(z.B. der EPR-Eintrag zu meinem Thoraxschmerz Wissen (z.B. was mein Arzt gegenwärtig über meinen Thoraxschmerz weiß) SNOMED CT Terminologie Logik Ontologie Trends Fazit Stefan Schulz: SNOMED CT - ein künftiger terminologischer Standard für Life Science ?

15 Social context (10) Community Family Group (…) Special concept Namespace concept Navigational concept Non-current concept Specimen (45) Biopsy sample Body substance sample Cardiovascular sample (…) Staging and scales (6) Assessment scales Endometriosis classification of American Fertility Society (…) Substance (11) Allergen class Biological substance Body substance (…) Body structure (10) Acquired body structure Anatomical organizational pattern (…) Clinical finding (22) Administrative statuses Adverse incident outcome categories (…) Environment or geographical location Environment Geogr. and/or political region of the world Event (19) Abuse Accidental event Bioterrorism related event (…) Linkage concept Attribute Link assertion Observable entity Age AND/OR growth period Body product observable (…) Clin. history / examination observable (21) Device observable Drug therapy observable Feature of Entity (…) Organism (11) Animal Chromista Infectious agent (…) Pharmaceutical / biologic product (58) Alcohol products Alopecia preparation Alternative medicines (…) Physical force (21) Altitude Electricity (…) Physical object (8) Device Domestic, office and garden artefact Fastening (…) Procedure (23) Administrative procedure Community health procedure (…) Qualifier value (52) Action Additional dosage instructions (…) Record artifact Record organizer Record type Situation with explicit context (17) A/N risk factors Critical incident factors (…) SNOMED CT Toplevel SNOMED CT Terminologie Logik Ontologie Trends Fazit

16 Access (attribute) Associated finding (attribute) Associated morphology (attribute) Associated procedure (attribute) Associated with (attribute) Clinical course (attribute) Component (attribute) Direct substance (attribute) Episodicity (attribute) Finding context (attribute) Finding informer (attribute) Finding method (attribute) Finding site (attribute) Has active ingredient (attribute) Has definitional manifestation (attribute) Has dose form (attribute) Has focus (attribute) Has intent (attribute) Has interpretation (attribute) Has specimen (attribute) Interprets (attribute) Laterality (attribute) Measurement method (attribute) Method (attribute) Occurrence (attribute) Part of (attribute) Pathological process (attribute) Priority (attribute) Procedure context (attribute) Procedure device (attribute) Procedure morphology (attribute) Procedure site (attribute) Property (attribute) Recipient category (attribute) Revision status (attribute) Route of administration (attribute) Scale type (attribute) Severity (attribute) Specimen procedure (attribute) Specimen source identity (attribute) Specimen source morphology (attribute) Specimen source topography (attribute) Specimen substance (attribute) Subject of information (attribute) Subject relationship context (attribute) Surgical approach (attribute) Temporal context (attribute) Time aspect (attribute) Using energy (attribute) Using substance (attribute) SNOMED CT: Relationen SNOMED CT Terminologie Logik Ontologie Trends Fazit

17 SNOMED CT : taxonomische Hierarchien SNOMED CT Terminologie Logik Ontologie Trends Fazit

18 SNOMED CT : taxonomische Hierarchien SNOMED CT Terminologie Logik Ontologie Trends Fazit

19 SNOMED CT : taxonomische Hierarchien Root Concept: Acute appendicitis (disorder) The following 36 "Is a" antecedents are present in the SNOMED hierarchy: Disorder of appendix (disorder) Disorder of digestive system (disorder) Disease (disorder) Appendicitis (disorder) Disorder of digestive organ (disorder) Disorder of lower gastrointestinal tract (disorder) Disorder of digestive tract (disorder) Disorder of intestine (disorder) Finding by site (finding) Finding of large intestine (finding) Disorder of abdomen (disorder) Disorder of gastrointestinal tract (disorder) General finding of abdomen (finding) Disorder of large intestine (disorder) Disorder by body site (disorder) Disorder of trunk (disorder) Inflammatory disorder (disorder) Acute inflammatory disease (disorder) Inflammatory disorder of digestive tract (disorder) SNOMED CT Concept (SNOMED RT+CTV3) Abdominal organ finding (finding) Bowel finding (finding) Finding of appendix (finding) Finding of body region (finding) Inflammation of large intestine (disorder) Finding of trunk structure (finding) Disorder of body system (disorder) Inflammation of specific body organs (disorder) Inflammation of specific body structures or tissue (disorder) Inflammation of specific body systems (disorder) Inflammatory disorder of digestive system (disorder) Digestive system finding (finding) Gastrointestinal tract finding (finding) Disorder of body cavity (disorder) Clinical finding (finding) Viscus structure finding (finding) Root Concept: Acute appendicitis (disorder) The following 36 "Is a" antecedents are present in the SNOMED hierarchy: SNOMED CT Terminologie Logik Ontologie Trends Fazit

20 SNOMED CT: kritische Betrachtung SNOMED CT Terminologie Logik Ontologie Trends Fazit Stefan Schulz: SNOMED CT - ein künftiger terminologischer Standard für Life Science ?

21 SNOMED CT: kritische Betrachtung Fehlen klarer Unterscheidungskriterien zwischen Toplevel-Kategorien Bunte Mischung unterschiedlicher, teils unverträglicher Klassifikationsprinzipien: massiv parallele Is-a Hierarchien Vermischung von ontologischen mit epistemologischen Charakteristika, unklares ontology commitment Fehlende Verlinkung zwischen Konzepten Aufblähung durch Tendenz zu unnötigen Präkoordinationen Ausführliche Analysen und Bewertungen: Josef Ingenerf: Die Referenzterminologie SNOMED CT©, 2007. MMI-Verlag Alan Rector (2007): Barriers, approaches and research priorities for integrating biomedical ontologies. http://www.semantichealth.org/DELIVERABLES/SemanticHEALTH_D6_1.pdf Stefan Schulz, Boontawee Suntisrivaraporn, Franz Baader (2007). SNOMED CT's problem list: ontologists' and logicians' therapy suggestions. Stud Health Technol Inform. 2007;129(Pt 1):802-6. SNOMED CT Terminologie Logik Ontologie Trends Fazit Stefan Schulz: SNOMED CT - ein künftiger terminologischer Standard für Life Science ?

22 125666000 burn 262581006 head burn 39065001 burn of ear 9269007 burn erythema of ear 284200001 superficial corrosion of ear 42066004 second degree burn of ear 211703005 deep partial thickness burn of ear 110176000 second degree burn of preauricular region of face 269233004 superficial partial thickness burn of ear 36520004 third degree burn of ear 211737002 deep full thickness burn of ear, with loss of body part 211724000 deep full thickness burn of the ear without loss of body part 17562007 deep third degree burn of ear 274205003 burn of eye region 71157005 burn of eye AND/OR adnexa 314531003 burn of anterior eyeball segment 63542002 acid chemical burn of cornea AND/OR conjunctival sac 38916004 alkaline chemical burn of cornea AND/OR conjunctival sac 231869007 chemical injury to conjunctiva 53642007 non-chemical burn of cornea AND/OR conjunctival sac 66526003 burn with resulting rupture AND/OR destruction of eyeball 16096002 chemical burn of eyelid AND/OR periocular area 211717001 full thickness burn of the eye 211725004 deep full thickness burn of the eye without loss of body part 211738007 deep full thickness burn of the eye, with loss of body part 88552007 non-chemical burn of eyelid AND/OR periocular area 284199004 partial thickness burn of eye 211704004 deep partial thickness burn of the eye 269234005 superficial partial thickness burn of the eye 211686009 superficial burn of the eye 284542003 burn of eye structure 269232009 burn confined to eye and adnexa 314531003 burn of anterior eyeball segment 63542002 acid chemical burn of cornea AND/OR conjunctival sac 38916004 alkaline chemical burn of cornea AND/OR conjunctival sac 231869007 chemical injury to conjunctiva 53642007 non-chemical burn of cornea AND/OR conjunctival sac 284541005 burn of conjunctiva 211662007 acid chemical burn of cornea and conjunctival sac 211661000 alkaline chemical burn of cornea and conjunctival sac 231869007 chemical injury to conjunctiva 231867009 thermal injury to conjunctiva 231884003 burn of sclera 423838005 scleral wound burn 211665009 burn resulting in eyeball rupture and destruction of eyeball 66526003 burn with resulting rupture AND/OR destruction of eyeball 274204004 corneal burn 211661000 alkaline chemical burn of cornea and conjunctival sac 287137008 burn to cornea - blister 287138003 burn to cornea - full thickness 231945007 chemical injury to cornea 211662007 acid chemical burn of cornea and conjunctival sac 418998008 chemical keratitis 418591009 corneal wound burn 231943000 thermal and radiation injury to the cornea 231944006 Labrador keratopathy 22075008 snow blindness 3282008 welders' keratitis 211666005 corrosion with resulting rupture and destruction of eyeball 211717001 full thickness burn of the eye 211725004 deep full thickness burn of the eye without loss of body part 211738007 deep full thickness burn of the eye, with loss of body part 232028002 laser coagulation burn to retina 284199004 partial thickness burn of eye 211704004 deep partial thickness burn of the eye 269234005 superficial partial thickness burn of the eye 211686009 superficial burn of the eye 110170006 burn of periorbital region 110171005 burn erythema of periorbital region 110172003 second degree burn of periorbital region 110173008 third degree burn of periorbital region 312646002 burn of skin of eye region 284537006 eyelid burn 287133007 burn to eyelid - blister 287132002 burn to eyelid - erythema 287134001 burn to eyelid - full thickness 211659009 chemical burn of eyelid region 231844007 lacrimal punctum burn 88552007 non-chemical burn of eyelid AND/OR periocular area 231819004 thermal burn of eyelid 17771000 burn of face AND/OR head 20945009 burn erythema of face AND/OR head 110174002 burn of preauricular region of face 110175001 burn erythema of preauricular region of face 110176000 second degree burn of preauricular region of face 110177009 third degree burn of preauricular region of face 54975007 second degree burn of face AND/OR head 89614009 third degree burn of nose 31717008 deep third degree burn of nose 211742005 deep full thickness burn of nose, with loss of body part 87177002 burn of mouth 110186004 burn of cheek 110187008 burn erythema of cheek 284202009 superficial corrosion of cheek 110188003 second degree burn of cheek 211711000 deep partial thickness burn of cheek 269240003 superficial partial thickness burn of cheek 110189006 third degree burn of cheek 211731001 deep full thickness burn of the cheek without loss of body part 211745007 deep full thickness burn of the cheek, with loss of body part 1203008 deep third degree burn of forehead AND/OR cheek with loss of body part 70097001 third degree burn of forehead AND/OR cheek 72030007 deep third degree burn of forehead AND/OR cheek 1203008 deep third degree burn of forehead AND/OR cheek with loss of body part 110178004 burn of circumoral region 110179007 burn erythema of circumoral region 73518002 burn of lip 78202006 burn erythema of lip 110195007 burn erythema of labial mucosa 211687000 superficial burn of lip(s) 284204005 superficial corrosion of lip 110194006 burn of labial mucosa 110195007 burn erythema of labial mucosa 110196008 second degree burn of labial mucosa 110197004 third degree burn of labial mucosa 211718006 full thickness burn of lip(s) 211726003 deep full thickness burn of the lip(s) without loss of body part 211739004 deep full thickness burn of the lip(s), with loss of body part 110197004 third degree burn of labial mucosa 284205006 partial thickness burn of lip 211705003 deep partial thickness burn of lip(s) 110196008 second degree burn of labial mucosa 269235006 superficial partial thickness burn of lip(s) 110180005 second degree burn of circumoral region 110181009 third degree burn of circumoral region 211718006 full thickness burn of lip(s) 211726003 deep full thickness burn of the lip(s) without loss of body part 211739004 deep full thickness burn of the lip(s), with loss of body part 110197004 third degree burn of labial mucosa 212032004 burn of mouth and pharynx 212035002 corrosion of mouth and pharynx 286547006 burn of oral cavity 110190002 burn of buccal mucosa 110191003 burn erythema of buccal mucosa 110192005 second degree burn of buccal mucosa 110193000 third degree burn of buccal mucosa 110214003 burn of floor of mouth 110215002 burn erythema of floor of mouth 110216001 second degree burn of floor of mouth 110217005 third degree burn of floor of mouth 24087000 burn of gum 110210007 burn of mandibular attached gingiva 110211006 burn erythema of mandibular attached gingiva 110212004 second degree burn of mandibular attached gingiva 110213009 third degree burn of mandibular attached gingiva 110206009 burn of maxillary attached gingiva 110207000 burn erythema of maxillary attached gingiva 110208005 second degree burn of maxillary attached gingiva 110209002 third degree burn of maxillary attached gingiva 110218000 burn of hard palate 110219008 burn erythema of hard palate 110220002 second degree burn of hard palate 110221003 third degree burn of hard palate 73518002 burn of lip 78202006 burn erythema of lip 110195007 burn erythema of labial mucosa 211687000 superficial burn of lip(s) 284204005 superficial corrosion of lip 110194006 burn of labial mucosa 110195007 burn erythema of labial mucosa 110196008 second degree burn of labial mucosa 110197004 third degree burn of labial mucosa 211718006 full thickness burn of lip(s) 211726003 deep full thickness burn of the lip(s) without loss of body part 211739004 deep full thickness burn of the lip(s), with loss of body part 110197004 third degree burn of labial mucosa 284205006 partial thickness burn of lip 211705003 deep partial thickness burn of lip(s) 110196008 second degree burn of labial mucosa 269235006 superficial partial thickness burn of lip(s) 110202006 burn of mandibular vestibule 110203001 burn erythema of mandibular vestibule 110204007 second degree burn of mandibular vestibule 110205008 third degree burn of mandibular vestibule 110198009 burn of maxillary vestibule 110199001 burn erythema of maxillary vestibule 110200003 second degree burn of maxillary vestibule 110201004 third degree burn of maxillary vestibule 110222005 burn of soft palate 110223000 burn erythema of soft palate 110224006 second degree burn of soft palate 110225007 third degree burn of soft palate 30715007 burn of tongue 110234002 burn erythema of tongue 110235001 second degree burn of tongue 110236000 third degree burn of tongue 235021001 chemical burn of oral mucosa 35447004 burn of pharynx 212032004 burn of mouth and pharynx 212035002 corrosion of mouth and pharynx 110226008 burn of oropharynx 110227004 burn erythema of oropharynx 110231005 burn erythema of tonsillar area 110230006 burn of tonsillar area 110231005 burn erythema of tonsillar area 110232003 second degree burn of tonsillar area 110233008 third degree burn of tonsillar area 110228009 second degree burn of oropharynx 110232003 second degree burn of tonsillar area 110229001 third degree burn of oropharynx 282453006 corrosion of pharynx 38978009 burn of scalp 7765006 burn erythema of scalp 284197002 superficial corrosion of scalp 22045003 second degree burn of scalp 211708001 deep partial thickness burn of scalp 269238008 superficial partial thickness burn of scalp 56716005 third degree burn of scalp 48260006 deep third degree burn of scalp 262582004 face burns 81116005 burn of chin 110178004 burn of circumoral region 24379005 burn of forehead AND/OR cheek 54674008 burn erythema of forehead AND/OR cheek 110187008 burn erythema of cheek 284202009 superficial corrosion of cheek 110186004 burn of cheek 110187008 burn erythema of cheek 284202009 superficial corrosion of cheek 110188003 second degree burn of cheek 211711000 deep partial thickness burn of cheek 269240003 superficial partial thickness burn of cheek 110189006 third degree burn of cheek 211731001 deep full thickness burn of the cheek without loss of body part 211745007 deep full thickness burn of the cheek, with loss of body part 1203008 deep third degree burn of forehead AND/OR cheek with loss of body part 70097001 third degree burn of forehead AND/OR cheek 72030007 deep third degree burn of forehead AND/OR cheek 1203008 deep third degree burn of forehead AND/OR cheek with loss of body part 110182002 burn of forehead 110183007 burn erythema of forehead 284198007 superficial corrosion of forehead 110184001 second degree burn of forehead 211709009 deep partial thickness burn of forehead 269239000 superficial partial thickness burn of forehead 110185000 third degree burn of forehead 211730000 deep full thickness burn of the forehead without loss of body part 211744006 deep full thickness burn of the forehead, with loss of body part 1203008 deep third degree burn of forehead AND/OR cheek with loss of body part 70097001 third degree burn of forehead AND/OR cheek 72030007 deep third degree burn of forehead AND/OR cheek 80027000 second degree burn of forehead AND/OR cheek 22233004 burn of nose 58340008 burn erythema of nose 284201002 superficial corrosion of nose 282451008 burn of nasal cavity 427828004 burn of nasal septum 11406003 second degree burn of nose 211707006 deep partial thickness burn of nose 269237003 superficial partial thickness burn of nose 89614009 third degree burn of nose 31717008 deep third degree burn of nose 211742005 deep full thickness burn of nose, with loss of body part 110174002 burn of preauricular region of face 110175001 burn erythema of preauricular region of face 110176000 second degree burn of preauricular region of face 110177009 third degree burn of preauricular region of face 312646002 burn of skin of eye region 85709009 deep third degree burn of face, head AND/OR neck 84432000 deep third degree burn of face, head AND/OR neck with loss of body part 42066004 second degree burn of ear 211703005 deep partial thickness burn of ear 110176000 second degree burn of preauricular region of face 269233004 superficial partial thickness burn of ear 287139006 first degree burn of head 110187008 burn erythema of cheek 284202009 superficial corrosion of cheek 10137002 burn erythema of chin 284206007 superficial corrosion of chin 110179007 burn erythema of circumoral region 9269007 burn erythema of ear 284200001 superficial corrosion of ear 110183007 burn erythema of forehead 284198007 superficial corrosion of forehead 58340008 burn erythema of nose 284201002 superficial corrosion of nose 287140008 second degree burn of head 110188003 second degree burn of cheek 211711000 deep partial thickness burn of cheek 269240003 superficial partial thickness burn of cheek 88756008 second degree burn of chin 211706002 deep partial thickness burn of chin 269236007 superficial partial thickness burn of chin 110180005 second degree burn of circumoral region 42066004 second degree burn of ear 211703005 deep partial thickness burn of ear 110176000 second degree burn of preauricular region of face 269233004 superficial partial thickness burn of ear 80027000 second degree burn of forehead AND/OR cheek 110184001 second degree burn of forehead 211709009 deep partial thickness burn of forehead 269239000 superficial partial thickness burn of forehead 11406003 second degree burn of nose 211707006 deep partial thickness burn of nose 269237003 superficial partial thickness burn of nose 110172003 second degree burn of periorbital region 22045003 second degree burn of scalp 211708001 deep partial thickness burn of scalp 269238008 superficial partial thickness burn of scalp 287141007 third degree burn of head 287138003 burn to cornea - full thickness 287134001 burn to eyelid - full thickness 85962005 deep third degree burn of face AND/OR head 54896004 deep third degree burn of face AND/OR head with loss of body part 84432000 deep third degree burn of face, head AND/OR neck with loss of body part 85709009 deep third degree burn of face, head AND/OR neck 84432000 deep third degree burn of face, head AND/OR neck with loss of body part 211717001 full thickness burn of the eye 211725004 deep full thickness burn of the eye without loss of body part 211738007 deep full thickness burn of the eye, with loss of body part 110193000 third degree burn of buccal mucosa 110189006 third degree burn of cheek 211731001 deep full thickness burn of the cheek without loss of body part 211745007 deep full thickness burn of the cheek, with loss of body part 1203008 deep third degree burn of forehead AND/OR cheek with loss of body part 70097001 third degree burn of forehead AND/OR cheek 72030007 deep third degree burn of forehead AND/OR cheek 1203008 deep third degree burn of forehead AND/OR cheek with loss of body part 73545001 third degree burn of chin 33056002 deep third degree burn of chin 211740002 deep full thickness burn of chin, with loss of body part 211727007 deep full thickness burn of the chin without loss of body part 110181009 third degree burn of circumoral region 211718006 full thickness burn of lip(s) 211726003 deep full thickness burn of the lip(s) without loss of body part 211739004 deep full thickness burn of the lip(s), with loss of body part 110197004 third degree burn of labial mucosa 36520004 third degree burn of ear 211737002 deep full thickness burn of ear, with loss of body part 211724000 deep full thickness burn of the ear without loss of body part 17562007 deep third degree burn of ear 110217005 third degree burn of floor of mouth 110185000 third degree burn of forehead 211730000 deep full thickness burn of the forehead without loss of body part 211744006 deep full thickness burn of the forehead, with loss of body part 1203008 deep third degree burn of forehead AND/OR cheek with loss of body part 70097001 third degree burn of forehead AND/OR cheek 72030007 deep third degree burn of forehead AND/OR cheek 1203008 deep third degree burn of forehead AND/OR cheek with loss of body part 110221003 third degree burn of hard palate 110213009 third degree burn of mandibular attached gingiva 110205008 third degree burn of mandibular vestibule 110209002 third degree burn of maxillary attached gingiva 110201004 third degree burn of maxillary vestibule 89614009 third degree burn of nose 31717008 deep third degree burn of nose 211742005 deep full thickness burn of nose, with loss of body part 110229001 third degree burn of oropharynx 110173008 third degree burn of periorbital region 110177009 third degree burn of preauricular region of face 56716005 third degree burn of scalp 48260006 deep third degree burn of scalp 211729005 deep full thickness burn of the scalp without loss of body part 211743000 deep full thickness burn of the scalp, with loss of body part 110225007 third degree burn of soft palate 110236000 third degree burn of tongue

23 SNOMED CT: Trends SNOMED CT Terminologie Logik Ontologie Trends Fazit Stefan Schulz: SNOMED CT - ein künftiger terminologischer Standard für Life Science ?

24 SNOMED CT: Trends Zäsur: Übernahme durch IHTSDO 2007 Einführung von Qualitätsstandards Neubearbeitung teils komplett chaotischer Bereiche (z.B. Substance, Drugs) Überarbeitung von Modellierungsrichtlinien (z.B. Anatomie, unter Beachtung logisch-ontologischer Prinzipien) Erarbeitung von Übersetzungsrichtlinien Eindämmung der weiteren Ausuferung durch striktere Inklusionskriterien SNOMED CT Terminologie Logik Ontologie Trends Fazit Stefan Schulz: SNOMED CT - ein künftiger terminologischer Standard für Life Science ?

25 SNOMED CT: offene Fragen Gelingt eine umfassende Modernisierung des in vieler Hinsicht unbrauchbaren Systems oder wird der Status quo zementiert? Gelingt der Übergang von einer proprietären, teuren und dennoch fehlerträchiger Terminologiepflege hin zu einer offenen, kooperativen Fortentwicklung (Wiki) ? Lässt sich eine klare Grenze zu komplementären Repräsentationssystemen (Wissensbasen, Datenmodellen) ziehen Gibt es außerklinische Use cases? Ist ein Terminologiesystem in dieser Größe überhaupt noch pflegbar? Wenn ja, wird die zur Pflege notwendigen kritische Masse (Nutzerbasis, Lizenzen) erreicht ? SNOMED CT Terminologie Logik Ontologie Trends Fazit Stefan Schulz: SNOMED CT - ein künftiger terminologischer Standard für Life Science ?

26 SNOMED CT – in Deutschland SNOMED CT Terminologie Logik Ontologie Trends Fazit Stefan Schulz: SNOMED CT - ein künftiger terminologischer Standard für Life Science ?

27 SNOMED CT – in Deutschland Bereits für wissenschaftliche Zwecke uneingeschränkt nutzbar. Vorbehalt gegenüber Beitritt zur IHTSDO: kostspielige Übersetzung der Terminologie Status der deutschen Übersetzung Unvollständig Nicht validiert Nicht von der IHTSDO freigegeben SNOMED CT Terminologie Logik Ontologie Trends Fazit Stefan Schulz: SNOMED CT - ein künftiger terminologischer Standard für Life Science ?

28 SNOMED-CT SNOMED CT ist auch sinnvoll ohne Übersetzung nutzbar Für fokussierte Anwendungen wären nur überschaubare Bereiche zu übersetzen Für bestimmte Benutzergruppen sind auch englische Terme zu verwenden Direkte SNOMED – Kodierung durch Ärzte auch bei idealer Übersetzung ein eher unrealistisches und wohl nicht wünschenswertes Szenario SNOMED CT Terminologie Logik Ontologie Trends Fazit Stefan Schulz: SNOMED CT - ein künftiger terminologischer Standard für Life Science ?

29 Pro: Aufschub der SNOMED-CT Übersetzung M.E. schwerwiegendes strukturelles Problem in SNOMED: Keine freitextlichen Definitionen vorgesehen Bedeutung vieler SNOMED-CT Konzepte oft nur (teilweise) aus dem Kontext ableitbar, daher unscharf Diskussion über die Notwendigkeit von freitextlichen Diskussionen innerhalb IHTSDO nicht abgeschlossen Erfahrung derzeitiger Übersetzungsprojekte (Dänisch, Schwedisch) nicht abgeschlossen. SNOMED CT Terminologie Logik Ontologie Trends Fazit Stefan Schulz: SNOMED CT - ein künftiger terminologischer Standard für Life Science ?

30 Pro: Beitritt zur IHTSDO Mitgestaltung eines in der Zukunft bedeutsamen Standards Stärkung der Position nicht-anglophoner Staaten Stärkung der Position der EU bzgl. Standardisierung im Gesundheitswesen Sammeln von Erfahrungen in Deutschland Allmähliches Wachsen einer deutschen Übersetzung relevanter SNOMED CT – Konzepte (SNOMED – WIKI) SNOMED CT Terminologie Logik Ontologie Trends Fazit Stefan Schulz: SNOMED CT - ein künftiger terminologischer Standard für Life Science ?

31 Fazit SNOMED CT Terminologie Logik Ontologie Trends Fazit Stefan Schulz: SNOMED CT - ein künftiger terminologischer Standard für Life Science ?

32 Fazit SNOMED CT: muss trotz teils eklatanter Schwächen ernst genommen werden SNOMED CT sollte auch von den nichtklinischen Bereichen analysiert werden Wissenschaftliche Auseinandersetzung mit SNOMED: Herausforderung für Medizininformatik, Linguistik, Informatik, Logik, analytische Philosophie Deutschland sollte der IHTSDO beitreten Übersetzung von SNOMED CT ins Deutsche vorläufig keine Priorität SNOMED CT Terminologie Logik Ontologie Trends Fazit Stefan Schulz: SNOMED CT - ein künftiger terminologischer Standard für Life Science ?

33 Kontakt: Stefan Schulz Institut für Medizinische Biometrie und Medizinische Informatik, Universitätsklinikum Freiburg http://purl.org/steschu stschulz@uni-freiburg.de Zu SNOMED: http://www.ihtsdo.org SNOMED CT Terminologie Logik Ontologie Trends Fazit

34 Anhang

35 SNOMED: Entwicklung SNOP SNOMED SNOMED II SNOMED 3.0 SNOMED 3.5 SNOMED RT SNOMED CT 1965 1970 1975 1980 1985 1990 1995 2000 2005 Nomenklatur / Pathologie mehrachsige Nomenklatur gesamte Medizin Logikbasierte Beschreibungen Fusion mit CTV3 Ontologische Bauprinzipien Context Model IHTSDO SNOMED im UMLS

36 x: instanceOf(x, ChronicAppendicitis) instanceOf(x, Inflammation) y: instanceOf(y, AppendixStructure) hasLocation(x,y) z: instanceOf(z, AcuteCourse) hasCourse(x,z)

37 Jorge Luis Borges "On those remote pages it is written that animals are divided into: a.those that belong to the Emperor b.embalmed ones c.those that are trained d.suckling pigs e.mermaids f.fabulous ones g.stray dogs h.those that are included in this classification i.those that tremble as if they were mad j.innumerable ones k.those drawn with a very fine camel's hair brush l.others m.those that have just broken a flower vase n.those that resemble flies from a distance" The Celestial Emporium of Benevolent Knowledge

38 HOT Topics: SNOMED CT Inhalte Überarbeitung teils komplett chaotischer SNOMED- CT – Bereiche (z.B. Substance) Überarbeitung von Richtlinien (z.B. Anatomie, auf logisch-ontologischer Basis Semantik des Context Model (heuristische vs. formale Ansätze) Übersetzung: Problem unzureichender Konzeptdefinitionen Präkoordinierung – Postkoordinierung: Risiko der Ausuferung durch präkoordinierte Konzepte

39 HOT Topics: IHTSDO Management Einführung von Qualitätsstandards, technische Prozeduren: Dokumentenstandards Erweiterungsanfragen Spannend: Gelingt eine umfassende Modernisierung im laufenden Betrieb oder wird der Status quo zementiert?

40 Persönliche Einschätzung

41 Konzept / Klassenhierarchie Definitionen (Text, Logik) domain or region of DNA [GENIA]: A substructure of DNA molecule which is supposed to have a particular function, such as a gene, e.g., c-jun gene, promoter region, Sp1 site, CA repeat. This class also includes a base sequence that has a particular function. Peptides [MeSH]: Members of the class of compounds composed of AMINO ACIDS joined together by peptide bonds between adjacent amino acids into linear, branched or cyclical structures. OLIGOPEPTIDES are composed of approximately 2-12 amino acids. Polypeptides are composed of approximately 13 or more amino acids. PROTEINS are linear polypeptides that are normally synthesized on RIBOSOMES. 19429009|chronic ulcer of skin| 116680003|is a|=64572001|disease| {116676008|associated morphology|= 405719001|chronic ulcer| 363698007|finding site|= 39937001|skin structure|} Terminologie Benign neoplasm of heart Benign tumor of heart Benign cardiac neoplasm Gutartiger Herzumor Gutartige Neubildung am Herzen Gutartige Neubildung: Herz Gutartige Neoplasie des Herzens Tumeur bénigne cardiaque Tumeur bénigne du cœur Neoplasia cardíaca benigna Neoplasia benigna do coração Neoplasia benigna del corazón Tumor benigno do corazón Informations/Datenmodelle Krankheitsursache: viral bakteriell physikalisch nicht nachgewiesen unbekannt Status des Eingriffs: geplant durchgeführt abgesetzt abgebrochen unbekannt

42 Informationsmodell TerminologieOntologie Ideal Ordnung von Entitäten einer Domäne und Beschreibung ihrer generischen Eigenschaften Modell zur Erfassung und Verwaltung von Information Ordnung und Beschreibung der Fachsprache einer Domäne

43 SNOMED CT ! TerminologieOntologie Informationsmodell


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