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COCT_MT540000UV
GeneticLoci

Derived from RMIM: COCT_RM540000UV and HMD: COCT_HD540000UV
 
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.

classCode [1..1] (M)
Observation (CS) {CNE:V:ActClassLocus, root= "LOC"}
moodCode [1..1] (M)
Observation (CS) {CNE:V:x_ActMoodDefEvnRqoPrmsPrp}
id [0..*]
Observation (DSET<II>)
code [0..1]
Observation (CD) {CWE:D:ActCode}
negationInd [0..1]
Observation (BL)
text [0..1]
Observation (ED)
effectiveTime [0..1]
Observation (QSET<TS>)
confidentialityCode [0..*]
Observation (DSET<CD>) {CWE:D:Confidentiality}
uncertaintyCode [0..1]
Observation (CD) {CNE:D:ActUncertainty}
reasonCode [0..*]
Observation (DSET<CD>) {CWE:D:ActReason}
value [0..1]
Observation (ANY) {CWE:D:ObservationValue}
interpretationCode [0..*]
Observation (DSET<CD>) {CWE:D:ObservationInterpretation}
methodCode [0..*]
Observation (DSET<CD>) {CWE:D:ObservationMethod}
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"}
contextControlCode [0..1]
Participation (CS) {CNE:C:ContextControl:OP}
patientClinical [1..1] (R_PatientClinical)
 
Performer1
typeCode [1..1] (M)
Participation (CS) {CNE:V:ParticipationPhysicalPerformer, root= "PRF"}
assignedEntity [1..1] (R_AssignedEntityUniversal)
 
Author1
typeCode [1..1] (M)
Participation (CS) {CNE:V:ParticipationAuthorOriginator, root= "AUT"}
assignedEntity [1..1] (R_AssignedEntityUniversal)
 
InformationRecipient1
typeCode [1..1] (M)
Participation (CS) {CNE:V:ParticipationInformationRecipient, root= "IRCP"}
assignedEntity [1..1] (R_AssignedEntityUniversal)
 
Verifier1
typeCode [1..1] (M)
Participation (CS) {CNE:V:ParticipationVerifier, root= "VRF"}
assignedEntity [1..1] (R_AssignedEntityUniversal)
 
Summary
typeCode [1..1] (M)
ActRelationship (CS) {CNE:V:ActRelationshipSummarizedBy, root= "SUMM"}
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.

 
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.

classCode [1..1] (M)
Document (CS) {CNE:V:ActClassClinicalDocument, root= "DOCCLIN"}
moodCode [1..1] (M)
Document (CS) {CNE:V:ActMoodEventOccurrence, root= "EVN"}
id [0..*]
Document (DSET<II>)
code [0..1]
Document (CD) {CWE:D:DocumentType}
title [0..1]
Document (ED)
text [0..1]
Document (ED)
statusCode [0..1]
Document (CS) {CNE:V:ActStatus}
effectiveTime [0..1]
Document (QSET<TS>)
setId [0..1]
Document (II)
versionNumber [0..1]
Document (INT)
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)

 
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)

typeCode [1..1] (M)
ActRelationship (CS) {CNE:V:ActRelationshipSequel, root= "SEQL"}
seperatableInd [0..1]
ActRelationship (BL)
geneticReportDocument [1..1] (GeneticReportDocument)
 
PertinentInformation
typeCode [1..1] (M)
ActRelationship (CS) {CNE:V:ActRelationshipPertains, root= "PERT"}
clinicalPhenotype [1..1] (ClinicalPhenotype)
 
ClinicalPhenotype
classCode [1..1] (M)
Act (CS) {CNE:}
moodCode [1..1] (M)
Act (CS) {CNE:V:ActMoodEventOccurrence, root= "EVN"}
component1 [0..*] (Component4)
component2 [0..*] (Component5)
component3 [0..*] (Component11)
 
Component4
typeCode [1..1] (M)
ActRelationship (CS) {CNE:V:ActRelationshipHasComponent, root= "COMP"}
observedClinicalPhenotype [1..1] (ObservedClinicalPhenotype)

Design Comments: A phenotype which has been actually observed in the patient represented internally in this model.

 
ObservedClinicalPhenotype

Design Comments: A phenotype which has been actually observed in the patient represented internally in this model.

choice of A_SupportingClinicalInformationUniversal
 
Component5
typeCode [1..1] (M)
ActRelationship (CS) {CNE:V:ActRelationshipHasComponent, root= "COMP"}
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.

 
KnownClinicalPhenotype

Design Comments: These phenotypes are not the actual phenotypes for the patient, rather they are the known risks of this mutation.

classCode [1..1] (M)
Observation (CS) {CNE:V:ActClassPhenotype, root= "PHN"}
moodCode [1..1] (M)
Observation (CS) {CNE:V:ActMoodDefinition, root= "DEF"}
code [0..1]
Observation (CD) {CWE:D:ActCode}
text [0..1]
Observation (ED)
effectiveTime [0..1]
Observation (QSET<TS>)
uncertaintyCode [0..1]
Observation (CD) {CNE:D:ActUncertainty}
value [0..1]
Observation (ANY) {CWE:D:ObservationValue}
 
Component11
typeCode [1..1] (M)
ActRelationship (CS) {CNE:V:ActRelationshipHasComponent, root= "COMP"}
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.

 
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.

classCode [1..1] (M)
Observation (CS) {CNE:V:ActClassPhenotype, root= "PHN"}
moodCode [1..1] (M)
Observation (CS) {CNE:V:ActMoodEventOccurrence, root= "EVN"}
id [1..1]
Observation (II)
code [0..1]
Observation (CD) {CWE:D:ActCode}
text [0..1]
Observation (ED)
effectiveTime [0..1]
Observation (QSET<TS>)
 
Component
typeCode [1..1] (M)
ActRelationship (CS) {CNE:V:ActRelationshipHasComponent, root= "COMP"}
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.

 
Component3
typeCode [1..1] (M)
ActRelationship (CS) {CNE:V:ActRelationshipHasComponent, root= "COMP"}
associatedObservation [1..1] (AssociatedObservation)
 
AssociatedObservation
classCode [1..1] (M)
Observation (CS) {CNE:V:ActClassGenomicObservation, root= "GEN"}
moodCode [1..1] (M)
Observation (CS) {CNE:V:x_ActMoodDefEvnRqoPrmsPrp}
id [0..*]
Observation (DSET<II>)
code [0..1]
Observation (CD) {CWE:D:ActCode}
text [0..1]
Observation (ED)
effectiveTime [0..1]
Observation (QSET<TS>)
value [0..1]
Observation (ANY) {CWE:D:ObservationValue}
methodCode [0..*]
Observation (DSET<CD>) {CWE:D:ObservationMethod}