Page tree


2719 View 9 Comment In discussion Comments enabled In the category: Undefined

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_NUMLONG_COMMON_NAMECOMPONENTPROPERTYTIME_ASPCTSYSTEMSCALE_TYPMETHOD_TYP
43995-0Trisomy 21 risk [Likelihood] in FetusTrisomy 21 riskLikelihoodPt^FetusQn
49090-4Fetal Trisomy 21 risk [Likelihood] Based on maternal ageTrisomy 21 riskLikelihoodPt^FetusQnBased on maternal age
73970-6Fetal Trisomy 21 risk [Likelihood] based on Plasma cell-free DNA by Dosage of chromosome-specific cfDNATrisomy 21 riskLikelihoodPtPlas.cfDNAQnDosage of chromosome specific cf DNA
75561-1Fetal Trisomy 21 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNATrisomy 21 riskLikelihoodPtWBC.DNA+Plas.cfDNAQnDosage of chromosome specific cf DNA
75563-7Fetal Trisomy 21 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeTrisomy 21 riskLikelihoodPtWBC.DNA+Plas.cfDNANarDosage 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)

9 Comments

  1. 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:

    75568-6Fetal Monosomy X prior risk [Likelihood] Based on maternal age NarrativeMonosomy X prior riskLikelihoodPt^FetusNarBased on maternal age
    75569-4Fetal Monosomy X risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeMonosomy X riskLikelihoodPtWBC.DNA+Plas.cfDNANar

    Dosage of chromosome specific cf DNA

    1. 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.

  2. List of LOINC terms:

    LOINC_NUMCOMPONENTPROPERTYTIME_ASPCTSYSTEMSCALE_TYPMETHOD_TYPCLASS
    79423-0Cardiovascular disease 10Y riskLikelihoodPt^PatientQnACC-AHA Pooled Cohort.Goff 2013CARD.RISK
    85624-5Kidney failure 2Y riskLikelihoodPt^PatientQnKFRECHEM
    85625-2Kidney failure 5Y riskLikelihoodPt^PatientQnKFRECHEM
    48803-1Neural tube defect riskLikelihoodPt^FetusQn
    CHEM
    49091-2Neural tube defect riskLikelihoodPt^FetusQnBased on maternal ageCHEM
    49838-6Neural tube defect riskLikelihoodPt^PopulationQn
    CHEM
    48671-2Prostate cancer riskLikelihoodPt^PatientQnEstimatedCHEM
    58769-1Trisomy 13 riskLikelihoodPt^FetusQn
    CHEM
    43994-3Trisomy 18 riskLikelihoodPt^FetusQn
    CHEM
    47223-3Trisomy 18 riskLikelihoodPt^FetusQnBased on maternal ageCHEM
    67816-9Trisomy 18+Trisomy 13 riskLikelihoodPt^FetusQn
    CHEM
    43995-0Trisomy 21 riskLikelihoodPt^FetusQn
    CHEM
    49090-4Trisomy 21 riskLikelihoodPt^FetusQnBased on maternal ageCHEM
    47222-5Trisomy 21 risk based on maternal age + Alpha-1-Fetoprotein + Choriogonadotropin + Estriol.unconjugatedLikelihoodPt^FetusQn
    CHEM
    49030-0Trisomy 21 risk based on maternal age + Pregnancy associated plasma protein A + Choriogonadotropin + Nuchal translucencyLikelihoodPt^FetusQn
    CHEM
    49059-9Trisomy 21+Trisomy 18 riskLikelihoodPt^FetusQn
    CHEM
    77351-5Probability of suspected pulmonary embolism prior to imagingLikelihoodPt^PatientOrd
    H&P.HX
    75586-8Angelman syndrome prior riskLikelihoodPt^FetusQnBased on general population riskMOLPATH
    75587-6Angelman syndrome prior riskLikelihoodPt^FetusNarBased on general population riskMOLPATH
    75588-4Angelman syndrome riskLikelihoodPtWBC.DNA+Plas.cfDNAQnDosage of chromosome specific cf DNAMOLPATH
    75589-2Angelman syndrome riskLikelihoodPtWBC.DNA+Plas.cfDNANarDosage of chromosome specific cf DNAMOLPATH
    73821-1Chromosome X & Y aneuploidy riskLikelihoodPtPlas.cfDNAQnDosage of chromosome specific cf DNAMOLPATH
    75566-0Monosomy X prior riskLikelihoodPt^FetusQnBased on maternal ageMOLPATH
    75568-6Monosomy X prior riskLikelihoodPt^FetusNarBased on maternal ageMOLPATH
    75567-8Monosomy X riskLikelihoodPtWBC.DNA+Plas.cfDNAQnDosage of chromosome specific cf DNAMOLPATH
    75569-4Monosomy X riskLikelihoodPtWBC.DNA+Plas.cfDNANarDosage of chromosome specific cf DNAMOLPATH
    75668-4SexLikelihoodPtPlas.cfDNAQnDosage of chromosome specific cf DNAMOLPATH
    75598-31p36 deletion prior riskLikelihoodPt^FetusQnBased on general population riskMOLPATH.DEL
    75599-11p36 deletion prior riskLikelihoodPt^FetusNarBased on general population riskMOLPATH.DEL
    75600-71p36 deletion riskLikelihoodPtWBC.DNA+Plas.cfDNAQnDosage of chromosome specific cf DNAMOLPATH.DEL
    75601-51p36 deletion riskLikelihoodPtWBC.DNA+Plas.cfDNANarDosage of chromosome specific cf DNAMOLPATH.DEL
    75574-422q11.2 deletion prior riskLikelihoodPt^FetusQnBased on general population riskMOLPATH.DEL
    75575-122q11.2 deletion prior riskLikelihoodPt^FetusNarBased on general population riskMOLPATH.DEL
    75576-922q11.2 deletion riskLikelihoodPtWBC.DNA+Plas.cfDNAQnDosage of chromosome specific cf DNAMOLPATH.DEL
    75577-722q11.2 deletion riskLikelihoodPtWBC.DNA+Plas.cfDNANarDosage of chromosome specific cf DNAMOLPATH.DEL
    75592-65p deletion prior riskLikelihoodPt^FetusQnBased on general population riskMOLPATH.DEL
    75593-45p deletion prior riskLikelihoodPt^FetusNarBased on general population riskMOLPATH.DEL
    75594-25p deletion riskLikelihoodPtWBC.DNA+Plas.cfDNAQnDosage of chromosome specific cf DNAMOLPATH.DEL
    75595-95p deletion riskLikelihoodPtWBC.DNA+Plas.cfDNANarDosage of chromosome specific cf DNAMOLPATH.DEL
    75580-1Prader-Willi syndrome prior riskLikelihoodPt^FetusQnBased on general population riskMOLPATH.DEL
    75581-9Prader-Willi syndrome prior riskLikelihoodPt^FetusNarBased on general population riskMOLPATH.DEL
    75582-7Prader-Willi syndrome riskLikelihoodPtWBC.DNA+Plas.cfDNAQnDosage of chromosome specific cf DNAMOLPATH.DEL
    75583-5Prader-Willi syndrome riskLikelihoodPtWBC.DNA+Plas.cfDNANarDosage of chromosome specific cf DNAMOLPATH.DEL
    75546-2Trisomy 13 prior riskLikelihoodPt^FetusQnBased on maternal ageMOLPATH.TRISOMY
    75550-4Trisomy 13 prior riskLikelihoodPt^FetusNarBased on maternal ageMOLPATH.TRISOMY
    73969-8Trisomy 13 riskLikelihoodPtPlas.cfDNAQnDosage of chromosome specific cf DNAMOLPATH.TRISOMY
    75548-8Trisomy 13 riskLikelihoodPtWBC.DNA+Plas.cfDNAQnDosage of chromosome specific cf DNAMOLPATH.TRISOMY
    75551-2Trisomy 13 riskLikelihoodPtWBC.DNA+Plas.cfDNANarDosage of chromosome specific cf DNAMOLPATH.TRISOMY
    75554-6Trisomy 18 prior riskLikelihoodPt^FetusQnBased on maternal ageMOLPATH.TRISOMY
    75556-1Trisomy 18 prior riskLikelihoodPt^FetusNarBased on maternal ageMOLPATH.TRISOMY
    73968-0Trisomy 18 riskLikelihoodPtPlas.cfDNAQnDosage of chromosome specific cf DNAMOLPATH.TRISOMY
    75555-3Trisomy 18 riskLikelihoodPtWBC.DNA+Plas.cfDNAQnDosage of chromosome specific cf DNAMOLPATH.TRISOMY
    75557-9Trisomy 18 riskLikelihoodPtWBC.DNA+Plas.cfDNANarDosage of chromosome specific cf DNAMOLPATH.TRISOMY
    75562-9Trisomy 21 prior riskLikelihoodPt^FetusNarBased on maternal ageMOLPATH.TRISOMY
    75560-3Trisomy 21 prior riskLikelihoodPt^FetusQnBased on maternal ageMOLPATH.TRISOMY
    73970-6Trisomy 21 riskLikelihoodPtPlas.cfDNAQnDosage of chromosome specific cf DNAMOLPATH.TRISOMY
    75563-7Trisomy 21 riskLikelihoodPtWBC.DNA+Plas.cfDNANarDosage of chromosome specific cf DNAMOLPATH.TRISOMY
    75561-1Trisomy 21 riskLikelihoodPtWBC.DNA+Plas.cfDNAQnDosage of chromosome specific cf DNAMOLPATH.TRISOMY
  3. 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?

    • 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

        • | Towards | = | 41040004 | Complete trisomy 21 syndrome (disorder) | // Not in range
  4. 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


    1. 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.

    2. 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.

  5. I think there are at least 2 different cases we need to consider: 

    1. Expression of uncertainty (or certainty) of an observation result. The 75668-4 example seems to contain two distinct observations: one of the type of sex of the fetus by the "Dosage of chromosome specific cf DNA" and then one report of the certainty (or lack of uncertainty) of the result of the former observation. There should be a generic way of expressing uncertainty of observation, likely one which involves the information model, e.g. as in ISO 21090 QTY and UVP data types (or in FHIR).
    2. Prediction or prognosis of a possible future event. There would be a spectrum of the amount and kind of data this prediction is based upon. A prediction based on solely on population data (without any patient-tailored analysis beyond classification into the right population) would be the same as the prevalence of the event. Other case where more patien data is used for making the prediction include prediction instruments such as CHA₂DS₂-VAScscore for stroke risk for AF patients or cardiac surgery outcome prediction scores.

    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.


  6. 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
    65851-8Coronary heart disease 10Y riskNumPt^PatientQnFramingham.Wilson 1998CARD.RISK
    65852-6Coronary heart disease 2Y riskNumPt^PatientQnFramingham.D'Agostino 2000CARD.RISK
    65853-4General cardiovascular disease 10Y riskNumPt^PatientQnFramingham.D'AgostinoCARD.RISK
    65854-2Intermittent claudication 4Y riskNumPt^PatientQnFramingham.Murabito 1997CARD.RISK
    65855-9Stroke 10Y riskNumPt^PatientQnFramingham.D'Agostino 1994CARD.RISK
    65856-7Atrial fibrillation 10Y riskNumPt^PatientQnFramingham.Schnabel 2009CARD.RISK
    65857-5Coronary heart disease 10Y riskNumPt^PatientQnReynolds.Ridker 2007CARD.RISK
    65858-3Coronary event 10Y riskNumPt^PatientQnPROCAM.QuickCheck.Cullen 1997CARD.RISK
    65859-1Coronary event 10Y riskNumPt^PatientQnPROCAM.HealthCheck.Cullen 1997CARD.RISK
    65860-9Cardiovascular disease 10Y riskNumPt^PatientQnSCORE.PC.Conroy 2003CARD.RISK
    65861-7Cardiovascular disease 10Y riskNumPt^PatientQnSCORE.Quick.Conroy 2003CARD.RISK
    65862-5Recurring coronary heart disease 2Y riskNumPt^PatientQnFramingham.D'Agostino 2000CARD.RISK
    65863-3Heart failure 4Y riskNumPt^PatientQnFramingham.Kannel 1999CARD.RISK
    65864-1Stroke after atrial fibrillation 5Y riskNumPt^PatientQnFramingham.Wang 2003CARD.RISK
    65865-8Stroke or death after atrial fibrillation 5Y riskNumPt^PatientQnFramingham.Wang 2003CARD.RISK


    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.