COCT_MT540000UV GeneticLoci |
Derived from RMIM: COCT_RM540000UV and HMD: COCT_HD540000UV |
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GeneticLoci |
Design Comments: In the context of genetic testing, it is possible to use the interpretationCode to indicate the “overall result” of a panel of loci, e.g., a number of genes, variants, etc. |
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classCode [1..1] (M) Observation (CS) {CNE:V:ActClassLocus, root= "LOC"} |
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moodCode [1..1] (M) Observation (CS) {CNE:V:x_ActMoodDefEvnRqoPrmsPrp} |
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id [0..*] Observation (DSET<II>) |
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code [0..1] Observation (CD) {CWE:D:ActCode} |
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negationInd [0..1] Observation (BL) |
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text [0..1] Observation (ED) |
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effectiveTime [0..1] Observation (QSET<TS>) |
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confidentialityCode [0..*] Observation (DSET<CD>) {CWE:D:Confidentiality} |
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uncertaintyCode [0..1] Observation (CD) {CNE:D:ActUncertainty} |
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reasonCode [0..*] Observation (DSET<CD>) {CWE:D:ActReason} |
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value [0..1] Observation (ANY) {CWE:D:ObservationValue} |
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interpretationCode [0..*] Observation (DSET<CD>) {CWE:D:ObservationInterpretation} |
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methodCode [0..*] Observation (DSET<CD>) {CWE:D:ObservationMethod} |
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recordTarget [0..1] (RecordTarget2) | |||||||||
performer [0..*] (Performer1) | |||||||||
author [0..*] (Author1) | |||||||||
informationRecipient [0..*] (InformationRecipient1) | |||||||||
verifier [0..*] (Verifier1) | |||||||||
summary [0..*] (Summary) | |||||||||
pertinentInformation [0..*] (PertinentInformation) | |||||||||
component1 [0..*] (Component) | |||||||||
component2 [0..*] (Component3) | |||||||||
RecordTarget2 | |||||||||
typeCode [1..1] (M) Participation (CS) {CNE:V:ParticipationRecordTarget, root= "RCT"} |
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contextControlCode [0..1] Participation (CS) {CNE:C:ContextControl:OP} |
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patientClinical [1..1] (R_PatientClinical) | |||||||||
Performer1 | |||||||||
typeCode [1..1] (M) Participation (CS) {CNE:V:ParticipationPhysicalPerformer, root= "PRF"} |
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assignedEntity [1..1] (R_AssignedEntityUniversal) | |||||||||
Author1 | |||||||||
typeCode [1..1] (M) Participation (CS) {CNE:V:ParticipationAuthorOriginator, root= "AUT"} |
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assignedEntity [1..1] (R_AssignedEntityUniversal) | |||||||||
InformationRecipient1 | |||||||||
typeCode [1..1] (M) Participation (CS) {CNE:V:ParticipationInformationRecipient, root= "IRCP"} |
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assignedEntity [1..1] (R_AssignedEntityUniversal) | |||||||||
Verifier1 | |||||||||
typeCode [1..1] (M) Participation (CS) {CNE:V:ParticipationVerifier, root= "VRF"} |
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assignedEntity [1..1] (R_AssignedEntityUniversal) | |||||||||
Summary | |||||||||
typeCode [1..1] (M) ActRelationship (CS) {CNE:V:ActRelationshipSummarizedBy, root= "SUMM"} |
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geneticReportDocument [1..1] (GeneticReportDocument) |
Design Comments: There are two ways to refer to a clinical document: 1. Populate the id attribute with the document id 2. Place the entire CDA instance within the text attribute The attributes in this class are essential data about the document and they are repeated in the document instance itself. It’s meant to ease the parsing process. |
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GeneticReportDocument |
Design Comments: There are two ways to refer to a clinical document: 1. Populate the id attribute with the document id 2. Place the entire CDA instance within the text attribute The attributes in this class are essential data about the document and they are repeated in the document instance itself. It’s meant to ease the parsing process. |
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classCode [1..1] (M) Document (CS) {CNE:V:ActClassClinicalDocument, root= "DOCCLIN"} |
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moodCode [1..1] (M) Document (CS) {CNE:V:ActMoodEventOccurrence, root= "EVN"} |
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id [0..*] Document (DSET<II>) |
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code [0..1] Document (CD) {CWE:D:DocumentType} |
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title [0..1] Document (ED) |
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text [0..1] Document (ED) |
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statusCode [0..1] Document (CS) {CNE:V:ActStatus} |
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effectiveTime [0..1] Document (QSET<TS>) |
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setId [0..1] Document (II) |
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versionNumber [0..1] Document (INT) |
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sequelTo [0..*] (SequelTo) |
Design Comments: 1. Only the following codes are allowed: APND - Addendum RPLC - Replacement SUCC - Succeed XFRM - Transformation …look for more codes in the SEQL node 2. use the separation indicator to indicate when a document should not be separated from its associated document (like in the EGFR-KRAS2 use case from HPCGG) |
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SequelTo |
Design Comments: 1. Only the following codes are allowed: APND - Addendum RPLC - Replacement SUCC - Succeed XFRM - Transformation …look for more codes in the SEQL node 2. use the separation indicator to indicate when a document should not be separated from its associated document (like in the EGFR-KRAS2 use case from HPCGG) |
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typeCode [1..1] (M) ActRelationship (CS) {CNE:V:ActRelationshipSequel, root= "SEQL"} |
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seperatableInd [0..1] ActRelationship (BL) |
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geneticReportDocument [1..1] (GeneticReportDocument) | |||||||||
PertinentInformation | |||||||||
typeCode [1..1] (M) ActRelationship (CS) {CNE:V:ActRelationshipPertains, root= "PERT"} |
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clinicalPhenotype [1..1] (ClinicalPhenotype) | |||||||||
ClinicalPhenotype | |||||||||
classCode [1..1] (M) Act (CS) {CNE:} |
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moodCode [1..1] (M) Act (CS) {CNE:V:ActMoodEventOccurrence, root= "EVN"} |
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component1 [0..*] (Component4) | |||||||||
component2 [0..*] (Component5) | |||||||||
component3 [0..*] (Component11) | |||||||||
Component4 | |||||||||
typeCode [1..1] (M) ActRelationship (CS) {CNE:V:ActRelationshipHasComponent, root= "COMP"} |
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observedClinicalPhenotype [1..1] (ObservedClinicalPhenotype) |
Design Comments: A phenotype which has been actually observed in the patient represented internally in this model. |
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ObservedClinicalPhenotype |
Design Comments: A phenotype which has been actually observed in the patient represented internally in this model. |
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choice of A_SupportingClinicalInformationUniversal | |||||||||
Component5 | |||||||||
typeCode [1..1] (M) ActRelationship (CS) {CNE:V:ActRelationshipHasComponent, root= "COMP"} |
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knownClinicalPhenotype [1..1] (KnownClinicalPhenotype) |
Design Comments: These phenotypes are not the actual phenotypes for the patient, rather they are the known risks of this mutation. |
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KnownClinicalPhenotype |
Design Comments: These phenotypes are not the actual phenotypes for the patient, rather they are the known risks of this mutation. |
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classCode [1..1] (M) Observation (CS) {CNE:V:ActClassPhenotype, root= "PHN"} |
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moodCode [1..1] (M) Observation (CS) {CNE:V:ActMoodDefinition, root= "DEF"} |
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code [0..1] Observation (CD) {CWE:D:ActCode} |
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text [0..1] Observation (ED) |
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effectiveTime [0..1] Observation (QSET<TS>) |
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uncertaintyCode [0..1] Observation (CD) {CNE:D:ActUncertainty} |
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value [0..1] Observation (ANY) {CWE:D:ObservationValue} |
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Component11 | |||||||||
typeCode [1..1] (M) ActRelationship (CS) {CNE:V:ActRelationshipHasComponent, root= "COMP"} |
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externalObservedClinicalPhenotype [1..1] (ExternalObservedClinicalPhenotype) |
Design Comments: An external observation is a valid Observation instance existing in any other HL7-compliant artifact, e.g., a document or a message. |
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ExternalObservedClinicalPhenotype |
Design Comments: An external observation is a valid Observation instance existing in any other HL7-compliant artifact, e.g., a document or a message. |
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classCode [1..1] (M) Observation (CS) {CNE:V:ActClassPhenotype, root= "PHN"} |
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moodCode [1..1] (M) Observation (CS) {CNE:V:ActMoodEventOccurrence, root= "EVN"} |
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id [1..1] Observation (II) |
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code [0..1] Observation (CD) {CWE:D:ActCode} |
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text [0..1] Observation (ED) |
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effectiveTime [0..1] Observation (QSET<TS>) |
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Component | |||||||||
typeCode [1..1] (M) ActRelationship (CS) {CNE:V:ActRelationshipHasComponent, root= "COMP"} |
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lociChoice [1..1] (LociChoice) | |||||||||
LociChoice | |||||||||
choice of A_GeneticLocusUniversal | |||||||||
or GeneticLoci |
Design Comments: In the context of genetic testing, it is possible to use the interpretationCode to indicate the “overall result” of a panel of loci, e.g., a number of genes, variants, etc. |
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Component3 | |||||||||
typeCode [1..1] (M) ActRelationship (CS) {CNE:V:ActRelationshipHasComponent, root= "COMP"} |
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associatedObservation [1..1] (AssociatedObservation) | |||||||||
AssociatedObservation | |||||||||
classCode [1..1] (M) Observation (CS) {CNE:V:ActClassGenomicObservation, root= "GEN"} |
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moodCode [1..1] (M) Observation (CS) {CNE:V:x_ActMoodDefEvnRqoPrmsPrp} |
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id [0..*] Observation (DSET<II>) |
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code [0..1] Observation (CD) {CWE:D:ActCode} |
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text [0..1] Observation (ED) |
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effectiveTime [0..1] Observation (QSET<TS>) |
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value [0..1] Observation (ANY) {CWE:D:ObservationValue} |
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methodCode [0..*] Observation (DSET<CD>) {CWE:D:ObservationMethod} |