Concept Model for observables, investigations, and observation results For the IHTSDO Observables Project Group and LOINC Coordination Project Revision Date: March 14, 2014 Part-2

observation result model (5) – Continue from Part-1 slide deck – Deprecates the use of “absence” as a property type – Asserting absence of findings/functions/abilities/etc. requires negation (using a modification of the situation model). – Observables would also not use “associated morphology” But note: Conditions can be modeled using “associated morphology” with a value that implies physical absence of a structure that is normally present E.g congenital atresia, traumatic acquired absence – Deprecates the use of “presence” as a property type. – Presence is necessarily implied by conditions modeled with associated-morphology, but presence is not a property type for observables E.g supernumerary structure (morphologic abnormality) implies presence of an extra structure not normally present.

The observation part of the model Main attributes are: – scale – units – technique – direct site

observable scale scale types model for observables units technique techniques direct site body structures, specimens is about Dep. Qualities/Dispositions, Indep. continuants

quality property type property types model for dependent qualities independent continuants inheres in towards functions, substances precondition body states

observable property type property types scale scale types model for ‘quality’ observables independent continuants inheres in towards functions, substances units technique techniques is about precondition body states (challenges, fasting etc.) direct site body structures, specimens quality

observable property type property types scale scale types model for ‘quality’ observables independent continuants inheres in towards functions, substances units technique techniques is about precondition body states direct site body structures, specimens IFCC-IUPAC NPU elementsLOINC elements Kind-of-propertyproperty System/specimensystem component scale units method System/specimen component quality

observable property type Substance concentration scale quantitative LOINC Example: Sodium:SCnc:PT:Ser/Plas:Qn plasma inheres in towards Sodium ion units technique techniques is about precondition body states direct site Serum/plasma specimen quality Kind-of-property component scale System/specimen Qualities are continuants that exist in their entirety at a single point in time

observable entity property type Substance concentration scale quantitative IFCC-IUPAC NPU Example: P—Sodium ion; subst.c. = ? mmol/l plasma inheres in towards Sodium ion units mmol/l technique techniques is about precondition body states direct site body structures, specimens quality property system component units

observation result scale scale types DRAFT model for observation results units technique techniques direct site body structures, specimens is about qualities, dispositions, independent continuants has value Numeric, ordinal, nominal

observation result property type property types scale scale types DRAFT model for results of observations of qualities independent continuants inheres in towards functions, substances units technique techniques is about precondition body states direct site body structures, specimens quality has value Numeric, ordinal, nominal

observation procedure property type property types scale scale types DRAFT model for procedures that observe qualities independent continuants inheres in towards functions, substances units technique techniques is about precondition body states direct site body structures, specimens quality method observation action

Attributes that define the quality that the observation is intended to elucidate – Property type Coordinated with BFO Qualities. Quality: a dependent continuant that is exhibited if it inheres in an entity or entities at all. (See BFO Manual, definition of “Quality”) – Inheres-in Relationship between a quality (property) and the independent continuant on which it depends for its existence, in which it is manifest – Towards (meaning the object or target of the property) Third element of a relational quality, (other than the quality, and the continuant in which it inheres) e.g. sodium, in the quality of concentration of sodium in serum – Precondition States of the individual that contextualize the property (e.g. standing, fasting, post- challenge, etc)

Values for property type Detail Dimension Feature Fluid property Force property Location Quantity Ratio Result Stage Temperature Time Velocity Wave property Top levels of value hierarchy – determined by empirical analysis of values in the observables hierarchy

observable entity property types – dimension [2] (possible: size) area [20] distance (synonym: linear dimension) – breadth [20] – circumference [27] – depth [7] – diameter [31] – height [29] – length [42] – width [11]

Approach to properties Influenced by OBO Quality ontology

precondition – body states that define the context in which the property is defined. For example, “standing blood pressure” is defined in the context of the body state “standing position”. Various challenge tests would be defined in terms of body states specifying the challenge that occurred, e.g. “2 hour post-prandial glucose” would have body state = “2 hours after meal”.

Attributes that define the characteristics of the observation – scale type Same as LOINC scale type and current measurement procedure attribute – units Same as IFCC-IUPAC NPU units – direct site the direct object of the observation action; the site or specimen where the observation takes place. May be different from the value of inheres in, since the property being observed may be inferred from a specimen or from a remote site. – Examples: rectum as the site of temperature measurement, where the property being observed is the core body temperature (rectal temperature being a surrogate); or serum specimen being used to determine body plasma sodium concentration. The concentration inheres in the plasma, but is being measured in a serum specimen. Needs to be modeled only when this site is different from the value of inheres in – technique Any specialization of “observation” that tells us how we did the observing; for example, “enzyme-linked immunosorbent assay” or “immunofluorescence”.

*Draft* suggestion for general site object property A possible attribute hierarchy could be: site inheres in direct site (used for procedures, observation results, and observables) indirect site (still used only for procedures) inheres in can be a sub-role of site. This works for observation findings and observation procedures, and direct site would be used in addition where necessary The attribute procedure site direct, in the current procedure model, is the same meaning as direct site in the observable model.

Replace measurement method with more general technique Proposal: – For observation and evaluation procedures, the method (with values from the action hierarchy) represents the goal or objective of what is done: evaluation, testing, imaging, measurement, examination – observation techniques define the observable, via technique (with values from a value set that includes lab techniques and other specific measurement and evaluation actions, such as inspection, palpation, percussion, auscultation) Techniques are the means by which the action is carried out, not the intended outcome. Techniques include specific measurement techniques such as Enzyme- linked immunosorbent assay (ELISA). – Need to examine whether this works for procedures other than evaluations, i.e. can we make the distinction between method (means) and technique for all procedures

observable entity property type Threshold scale quantitative Auditory threshold at 3kHz, in dB Auditory system inheres in towards Hearing (function) units dB technique 3 kHz audiometry is about precondition body states direct site ear quality

precondition body states quality property type Mass concentration Blood hemoglobin concentration (quality) Intravascular blood inheres in towards hemoglobin

precondition observable entity property type Mass concentration scale quantitative Blood hemoglobin concentration, quantitative (observable) Intravascular blood inheres in towards hemoglobin units technique techniques is about body states direct site body structures, specimens quality

precondition observation result property type Mass concentration scale quantitative Blood hemoglobin 14 gm/dL (observation result) Intravascular blood inheres in towards hemoglobin units gm/dL technique techniques is about body states direct site body structures, specimens quality has value 14

precondition body states quality property type circumference Head circumference (quality) Head (necessarily also: surface along fronto-parietal coronal plane of head) inheres in towards hemoglobin

precondition observation result property type circumference scale quantitative Head circumference in cm (observable) head inheres in towards hemoglobin units cm technique techniques is about body states direct site body structures, specimens quality

precondition observation result property type circumference scale quantitative Head circumference 42 cm (observation result) head inheres in towards hemoglobin units cm technique techniques is about body states direct site body structures, specimens quality has value 42

precondition observable entity property type concentration scale quantitative Serum concentration of Borrelia antibody plasma inheres in towards Borrelia antibody units technique techniques is about body states direct site Serum specimen quality

precondition observation procedure property type concentration scale quantitative Measurement of serum concentration of Borrelia antibody by ELISA technique (procedure) plasma inheres in towards Borrelia antibody units technique ELISA is about body states direct site Serum specimen quality method Measurement action

precondition observation result property type serogroup scale scales Cultured E.coli serotype is O157 E. Coli (organism) inheres in towards hemoglobin units technique Bacterial serotyping is about body states direct site Microbial culture quality has value O157 The information model is used to link this result to the Culture and specimen that came from the patient.

What about abilities? Continued in Part-3 slide deck Able with respect to normal functioning and activities – Ontologically these are “realizables”. – Two types: Sure-fire (“dispositions”): if you have the ability to feel pain, then when a painful stimulus is applied, you feel it (assuming you are conscious – and actually even if you are unconscious – with some exceptions based on threshold of intensity) Those abilities that depend on the bearer’s decision (ability to walk, talk, throw a ball, eat an apple, etc)