- Created by Farzaneh Ashrafi, last modified on 2017-Jun-14
Hi all,
We are looking for feedback related to this LOINC part and associated LOINC terms.
RELMA defines this property as following: “Risk is the probability (chance) of a certain event happening, such as developing a particular disease or inheriting a specific mutation. Risk can be represented as a fraction or a percent. For example, a 1 in 1,000 chance can be represented as 1/1,000 or 0.1%.”
Example LOINC terms that are using this property:
LOINC_NUM | LONG_COMMON_NAME | COMPONENT | PROPERTY | TIME_ASPCT | SYSTEM | SCALE_TYP | METHOD_TYP |
43995-0 | Trisomy 21 risk [Likelihood] in Fetus | Trisomy 21 risk | Likelihood | Pt | ^Fetus | Qn | |
49090-4 | Fetal Trisomy 21 risk [Likelihood] Based on maternal age | Trisomy 21 risk | Likelihood | Pt | ^Fetus | Qn | Based on maternal age |
73970-6 | Fetal Trisomy 21 risk [Likelihood] based on Plasma cell-free DNA by Dosage of chromosome-specific cfDNA | Trisomy 21 risk | Likelihood | Pt | Plas.cfDNA | Qn | Dosage of chromosome specific cf DNA |
75561-1 | Fetal Trisomy 21 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA | Trisomy 21 risk | Likelihood | Pt | WBC.DNA+Plas.cfDNA | Qn | Dosage of chromosome specific cf DNA |
75563-7 | Fetal Trisomy 21 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative | Trisomy 21 risk | Likelihood | Pt | WBC.DNA+Plas.cfDNA | Nar | Dosage of chromosome specific cf DNA |
For creating post coordinated expression for the examples noted above, our proposal is to:
Create new component concept as following:
7894007 | Karyotype morphology (morphologic abnormality)
78989007 | Trisomy (morphologic abnormality)
NEW | Trisomy 21 (morphologic abnormality)
Create a new property as following
New | Likelihood (property) (qualifier value)
Other attributes (including method) will be mapped as specified in the LOINC terms.
Best Regards,
Farzaneh
CC: Suzanne Santamaria
Contributors (5)
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9 Comments
Farzaneh Ashrafi
Summary of discussions in OIMP call, August 2017 (To be continued in the next OIMP call):
Likelihood as a property is similar to presence.
Can we consider it as "level of risk" (Also see: 30207005 | Risk of (contextual qualifier) (qualifier value))? No: although many of the LOINC terms are related to risk, there are a few (e.g. Sex) that don't indicate "risk". They are related to a prognosis.
A side note: Swapna noted that use of prior in some of the LOINC components is to differentiate the method (maternal age or population risk vs. a quantitative technique). The following two terms refer to the same component, but the method id different:
Dosage of chromosome specific cf DNA
Jim Case
I do not agree that likelihood is the same as presence. Presence is a binary construct (there or not there) whereas likelihood is the probability that something will be there. Likelihood is a potential (outcome of a probability model) as opposed to an absolute. Even with a high risk, there is still a chance that the manifestation does not occur.
One can generate a likelihood from a large set of presence absence occurrences, but that would be the only relationship between them.
Farzaneh Ashrafi
List of LOINC terms:
Farzaneh Ashrafi
OIMP meeting in Bratislava:
Likelihood as a new property:
Likelihood and relationship to Presence
p=1 → Present, p=0 → Absent
Likelihood and relationship to dispositions
p>0 → there is a (pre-)dispostion to X (?)
Probability of Disease rather or karyotypic morphologic abnormality?
Angelman syndrome
Trisomy 21 risk
22q11.2 deletion risk
Modelling:
| Observable | :
| Property type | = | Likelihood |, // Likelihood has a precise definition in statistics!
| Inheres in | = | Fetus |,
Technique | = | estimation of.. |
| Component| = | 737542000 | Trisomy 21 (morphologic abnormality) |
Or
James R. Campbell
Reviewing RELMA, I note that “Likelihood”, “RelRto”, “Probability”,”Risk” are all used in various attributes of LOINC definition of concepts such as we have been discussing. Reflecting that decision analytic risk/probability instruments are often developed with a specific types of metric as the dependent variable, I suggest that features with technical definitions in probability theory be reserved for specific measurement properties that would allow concise definition of the Observable. With that in mind, something like the following hierarchy might be reasonable for enhancement of measurement property, given that existing LOINC concepts will often end up with something more specific than ‘Likelihood’ in the definition:
118598001|Measurement Property(qualifier value)|
>>>Expectation risk and/or certainty
>>>>>>Likelihood-Ratio of the odds of occurrence to non-occurrence
>>>>>>Odds-ratio of probabilities of occurrence to non-occurrence
>>>>>>Probability-numeric (scale of 0-1) estimation of certainty of occurrence
Jim Case
Is this really a measurement property? While the different probabilities and ratios are based on a population of measured properties, the actual calculation itself is not a measurement per se.
Jeremy Rogers
I'm a bit confused by Jim's definitions of odds and likelihood ratio - but its been 3 decades since I last had probabilities and stats anywhere near the tip of my fingers in high school!
I thought an Odds Ratio was (pX given A)/(pX given not A) where A is a prior exposure that influences pX? And a likelihood ratio (for a test result) is something like the (true positives+true negatives)/(false positives+false negatives), ie similar to Predictive Value. The positive and negative likelihood subflavours quantify the probability that a positive or negative test result respectively is correct.
But whatever....there's clearly a potential to split 'risk' itself between absolute and relative risk. Sensitivity/specificity and recall/precision are also all in the same territory.
Despite its name, current usage in LOINC would suggest 'Likelihood' property rarely if ever corresponds to the usual mathematical notion of a 'Likelihood Ratio' as a measure of a test result's intrinsic reliability.
Daniel Karlsson
I think there are at least 2 different cases we need to consider:
The former (1) could be represented similar to a presence observable with PROPERTY like Jim's suggestion and use of INHERES IN and COMPONENT attributes (if the information model representation is not preferred). The latter (2) could be represented similar to function (realizable) observables, possibly with a Prevalence property (to be added to Jim's list) if applicable, with INHERES IN and HAS REALIZATION (which then needs range extension) attributes.
Jeremy Rogers
There are currently 60 'Risk' type components with Property=LP185777-2 Likelihood in LOINC v2.63. As Farzaneh's earlier post shows, they're mostly related to the risk of various chromosomal disorders.
But there are a roughly equal number of LOINCs that look to be concerned with clinically very similar Scale_type=Qn notions of 'risk', but where the property isn't given as 'Likelihood'.
For example these from the cardiovascular risk stable:
LOINC_NUM
COMPONENT
PROPERTY
TIME_ASPCT
SYSTEM
SCALE_TYP
METHOD_TYP
CLASS
Perhaps these are content errors in current LOINC?
If not, then there may be more than discrete notion in LOINC of quantifiable 'risk' and likelihood, and so we may need to clarify what those are before trying to represent one or the other in SNOMED.