| POCG_HD000040UV01 POCG_HD000040UV |
Description: The entry point of the family history model is the FamilyHistory class which has a subject patient. (Link to Excel View) Derived from RMIM: POCG_RM000040UV01 |
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| FamilyHistory | |||||||||
| classCode [1..1] (M) Act (CS) {CNE:V:ActClassObservation, root= "OBS"} |
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| moodCode [1..1] (M) Act (CS) {CNE:V:ActMoodEventOccurrence, root= "EVN"} |
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| id [0..*] Act (DSET<II>) |
Design Comments: holds a unique identifier of this family history instance. |
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| code [1..1] Act (CD) {CWE:D:ActCode} |
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| text [0..1] Act (ED) |
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| statusCode [0..1] Act (CS) {CNE:D:ActStatus} |
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| effectiveTime [0..1] Act (TS) |
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| confidentialityCode [0..*] Act (DSET<CD>) {CWE:D:Confidentiality} |
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| uncertaintyCode [0..1] Act (CD) {CNE:D:ActUncertainty} |
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| languageCode [0..1] Act (CD) {CWE:D:HumanLanguage} |
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| methodCode [0..*] Observation (DSET<CD>) {CWE:D:ObservationMethod} |
Design Comments: The methodCode holds the identification of the program creating the family history data |
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| subject [0..1] (Subject5) | |||||||||
| informant [0..*] (Informant) |
Design Comments: Informant represents the source of information from which this family history was collected. |
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| risk [0..*] (Risk) | |||||||||
| component [0..*] (Component2) |
Design Comments: Use this association to represent a problem known in the family that cannot be attributed to a specific family member. |
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| Subject5 | |||||||||
| typeCode [1..1] (M) Participation (CS) {CNE:V:ParticipationTargetSubject, root= "SBJ"} |
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| patient [1..1] (Patient) |
Design Comments: The subject of this family hsitory. |
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| Patient |
Design Comments: The subject of this family hsitory. |
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| classCode [1..1] (M) Role (CS) {CNE:V:RoleClassPatient, root= "PAT"} |
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| id [0..1] Role (II) |
Design Comments: id may hold an identifier assigned by the scoping organization (healthcare provider collecting the family history information). |
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| patientPerson [1..1] (Person) |
Design Comments: Person holds details that are not specific the family role played by Person. Person is also the scoper of the relative roles (for more details see the V3 RoleCode vocabulary, domain = PersonalRelationshipRoleType). Linking back from Relative to Person allows placing personal details of the relative. It also enables a recursive representation of any higher degree of relations, e.g., grandfather, through the same association nesting in Person, for both 'pure' hierarchical representation as well as specifying father and mother ids. |
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| providerOrganization [0..1] (E_OrganizationUniversal) |
Design Comments: The healthcare provider scoping the patient while the family history was collected. |
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| subjectOf1 [0..*] (Subject3) | |||||||||
| subjectOf2 [0..*] (Subject) | |||||||||
| Person |
Design Comments: Person holds details that are not specific the family role played by Person. Person is also the scoper of the relative roles (for more details see the V3 RoleCode vocabulary, domain = PersonalRelationshipRoleType). Linking back from Relative to Person allows placing personal details of the relative. It also enables a recursive representation of any higher degree of relations, e.g., grandfather, through the same association nesting in Person, for both 'pure' hierarchical representation as well as specifying father and mother ids. |
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| classCode [1..1] (M) Entity (CS) {CNE:V:EntityClassPerson, root= "PSN"} |
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| determinerCode [1..1] (M) Entity (CS) {CNE:V:EntityDeterminerSpecific, root= "INSTANCE"} |
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| id [0..1] Entity (II) |
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| name [0..*] Entity (COLL<EN>) |
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| telecom [0..*] Entity (COLL<TEL>) |
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| administrativeGenderCode [0..1] LivingSubject (CD) {CWE:D:AdministrativeGender} |
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| birthTime [0..1] LivingSubject (TS) |
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| deceasedInd [0..1] LivingSubject (BL){default= "false"} |
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| deceasedTime [0..1] LivingSubject (TS) |
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| raceCode [0..*] Person (DSET<CD>) {CWE:D:Race} |
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| ethnicGroupCode [0..*] Person (DSET<CD>) {CWE:D:Ethnicity} |
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| relative [0..*] (Relative) |
Design Comments: The Relative class represents a patient's relative and is scoped by the Person entity. The basis of this part of the model is in the RIM definition of family member relationships which are based on the relationship between a scoping entity and a role. For example, the code CHILD is defined as "The player of the role is a child of the scoping entity", and the same goes for any type of family relationship. Note that this is valid not only to the relationship between the patient and a relative directly associated with the patient, rather this is true for any relationship between family members on this pedigree, for example, between the patient's mother (the scoper) and her father (the role). |
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| Relative |
Design Comments: The Relative class represents a patient's relative and is scoped by the Person entity. The basis of this part of the model is in the RIM definition of family member relationships which are based on the relationship between a scoping entity and a role. For example, the code CHILD is defined as "The player of the role is a child of the scoping entity", and the same goes for any type of family relationship. Note that this is valid not only to the relationship between the patient and a relative directly associated with the patient, rather this is true for any relationship between family members on this pedigree, for example, between the patient's mother (the scoper) and her father (the role). |
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| classCode [1..1] (M) Role (CS) {CNE:V:RoleClassPersonalRelationship, root= "PRS"} |
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| code [1..1] (M) Role (CD) {CWE:V:FamilyMember} |
Design Comments: Use the FAMMEMB code (FamilyMember) and all its subtypes to identify the relation to the relative, at any level of specificity, for example PRN (parent) or NMTH (natural mother). The FAMMEMB code itself can be used for unidentified relatives. |
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| relationshipHolder [0..1] (Person) |
Design Comments: Person holds details that are not specific the family role played by Person. Person is also the scoper of the relative roles (for more details see the V3 RoleCode vocabulary, domain = PersonalRelationshipRoleType). Linking back from Relative to Person allows placing personal details of the relative. It also enables a recursive representation of any higher degree of relations, e.g., grandfather, through the same association nesting in Person, for both 'pure' hierarchical representation as well as specifying father and mother ids. |
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| subjectOf1 [0..*] (Subject3) | |||||||||
| subjectOf2 [0..*] (Subject) | |||||||||
| Subject3 | |||||||||
| typeCode [1..1] (M) Participation (CS) {CNE:V:ParticipationTargetSubject, root= "SBJ"} |
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| subjectEstimatedAge [1..1] (SubjectEstimatedAge) |
Design Comments: Estimated age (current or deceased) of the patient / relative in cases where his/her birth date is unknown. |
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| SubjectEstimatedAge |
Design Comments: Estimated age (current or deceased) of the patient / relative in cases where his/her birth date is unknown. |
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| choice of DeceasedEstimatedAge | |||||||||
| or LivingEstimatedAge | |||||||||
| DeceasedEstimatedAge | |||||||||
| classCode [1..1] (M) Act (CS) {CNE:V:ActClassObservation, root= "OBS"} |
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| moodCode [1..1] (M) Act (CS) {CNE:V:ActMoodEventOccurrence, root= "EVN"} |
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| code [1..1] Act (CD) {CWE:D:ActCode} |
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| value [0..1] Observation (IVL<REAL>) |
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| LivingEstimatedAge | |||||||||
| classCode [1..1] (M) Act (CS) {CNE:V:ActClassObservation, root= "OBS"} |
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| moodCode [1..1] (M) Act (CS) {CNE:V:ActMoodEventOccurrence, root= "EVN"} |
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| code [1..1] Act (CD) {CWE:D:ActCode} |
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| value [0..1] Observation (IVL<REAL>) |
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| Subject | |||||||||
| typeCode [1..1] (M) Participation (CS) {CNE:V:ParticipationTargetSubject, root= "SBJ"} |
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| clinicalGenomicChoice [1..1] (ClinicalGenomicChoice) | |||||||||
| ClinicalGenomicChoice | |||||||||
| choice of A_GeneticLociUniversal |
Design Comments: Multiple loci, utilizing the Genetic Locus CMET for each locus. |
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| or A_GeneticLocusUniversal |
Design Comments: This is the GeneticLocus CMET), the main artifact of the HL7 Clinical Genomics SIG, dealing with all types of genomic data. |
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| or ClinicalObservation |
Design Comments: A generic placeholder to hold common clinical data (e.g., problems, diagnoses, reactions to drugs, allergies, etc.). |
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| ClinicalObservation |
Design Comments: A generic placeholder to hold common clinical data (e.g., problems, diagnoses, reactions to drugs, allergies, etc.). |
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| classCode [1..1] (M) Act (CS) {CNE:V:ActClassObservation, root= "OBS"} |
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| moodCode [1..1] (M) Act (CS) {CNE:V:ActMoodEventOccurrence, root= "EVN"} |
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| id [0..*] Act (DSET<II>) |
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| code [1..1] Act (CD) {CWE:D:ActCode} |
Design Comments: For specifying cause of death, use a code with similar semantics to the LOINC code 21984-0. |
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| negationInd [0..1] Act (BL) |
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| text [0..1] Act (ED) |
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| statusCode [0..1] Act (CS) {CNE:D:ActStatus} |
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| effectiveTime [0..1] Act (IVL<TS>) |
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| confidentialityCode [0..*] Act (DSET<CD>) {CWE:D:Confidentiality} |
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| uncertaintyCode [0..1] Act (CD) {CNE:D:ActUncertainty} |
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| value [0..1] Observation (ANY) |
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| methodCode [0..*] Observation (DSET<CD>) {CWE:D:ObservationMethod} |
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| subject [0..1] (Subject4) | |||||||||
| outboundRelationship [0..*] (SourceOf) |
Design Comments: A recursive association that addresses more complex data sets, and in consistent with the Clinical Statement model. |
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| Subject4 | |||||||||
| typeCode [1..1] (M) ActRelationship (CS) {CNE:V:ActRelationshipHasSubject, root= "SUBJ"} |
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| dataEstimatedAge [1..1] (DataEstimatedAge) |
Design Comments: Holds the estimated age of the subject (i.e., the patient or one of the relatives) when the observation was made. |
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| DataEstimatedAge |
Design Comments: Holds the estimated age of the subject (i.e., the patient or one of the relatives) when the observation was made. |
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| classCode [1..1] (M) Act (CS) {CNE:V:ActClassObservation, root= "OBS"} |
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| moodCode [1..1] (M) Act (CS) {CNE:V:ActMoodEventOccurrence, root= "EVN"} |
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| code [1..1] Act (CD) {CWE:D:ActCode} |
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| value [0..1] Observation (IVL<REAL>) |
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| SourceOf |
Design Comments: A recursive association that addresses more complex data sets, and in consistent with the Clinical Statement model. |
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| typeCode [1..1] (M) ActRelationship (CS) {CNE:D:ActRelationshipType} |
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| clinicalObservation [1..1] (ClinicalObservation) |
Design Comments: A generic placeholder to hold common clinical data (e.g., problems, diagnoses, reactions to drugs, allergies, etc.). |
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| Informant |
Design Comments: Informant represents the source of information from which this family history was collected. |
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| typeCode [1..1] (M) Participation (CS) {CNE:V:ParticipationInformant, root= "INF"} |
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| relatedParty [1..1] (R_RelatedPartyUniversal) | |||||||||
| Risk | |||||||||
| typeCode [1..1] (M) ActRelationship (CS) {CNE:V:ActRelationshipHasRisk, root= "RISK"} |
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| pedigreeAnalysisResults [1..1] (PedigreeAnalysisResults) |
Design Comments: This class represents the results of analysis done to the data captured in the family history pedigree. |
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| PedigreeAnalysisResults |
Design Comments: This class represents the results of analysis done to the data captured in the family history pedigree. |
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| classCode [1..1] (M) Act (CS) {CNE:V:ActClassObservation, root= "OBS"} |
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| moodCode [1..1] (M) Act (CS) {CNE:V:ActMoodRisk, root= "RSK"} |
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| id [0..*] Act (DSET<II>) |
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| code [0..1] Act (CD) {CWE:D:ActCode} |
Design Comments: Use the code attribute to identify the disease or variation for which the probabilities/risks/etc. are calculated. |
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| negationInd [0..1] Act (BL) |
Design Comments: This attribute can be used to represent the fact that there is no risk found for this family history and the clinical condition in the code attribute. |
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| derivationExpr [0..1] Act (ST) |
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| text [0..1] Act (ED) |
Design Comments: free text description of the pedigree analysis |
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| effectiveTime [0..1] Act (IVL<TS>) |
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| methodCode [0..*] Observation (DSET<CD>) {CWE:D:ObservationMethod} |
Design Comments: The methodCode holds the algorithm used to analyze the pedigree. |
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| controlVariable [0..*] (ControlVariable) | |||||||||
| component [0..*] (Component) | |||||||||
| ControlVariable | |||||||||
| typeCode [1..1] (M) ActRelationship (CS) {CNE:V:ActRelationshipHasControlVariable, root= "CTRLV"} |
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| localVariableName [0..1] ActRelationship (ST) |
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| inputParameters [1..1] (InputParameters) |
Design Comments: The controlVariable association links PedigreeAnalysisResults to input parameters used in the analysis like sensitivity and specificity in the BRCAPRO algorithm. For example, if the code attribute holds "sensitivity" then the value attribute holds the sensitivity itself. |
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| InputParameters |
Design Comments: The controlVariable association links PedigreeAnalysisResults to input parameters used in the analysis like sensitivity and specificity in the BRCAPRO algorithm. For example, if the code attribute holds "sensitivity" then the value attribute holds the sensitivity itself. |
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| classCode [1..1] (M) Act (CS) {CNE:V:ActClassObservation, root= "OBS"} |
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| moodCode [1..1] (M) Act (CS) {CNE:V:ActMoodEventCriterion, root= "EVN.CRT"} |
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| code [0..1] Act (CD) {CWE:D:ActCode} |
Design Comments: Use code to identify the type of parameter, e.g., sensitivity or specificity and use value to hold the actual value. |
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| text [0..1] Act (ED) |
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| value [0..1] Observation (ANY) |
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| Component | |||||||||
| typeCode [1..1] (M) ActRelationship (CS) {CNE:V:ActRelationshipHasComponent, root= "COMP"} |
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| choice [1..1] (Choice) | |||||||||
| Choice | |||||||||
| choice of Age |
Design Comments: The age at which there is a probability of having the disease or mutation identified in the 'code' attribute of the source act. The probablity is represnetre in the target act. |
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| or AnalysisResult |
Design Comments: This class is a catcher for any analysis that cannot be represented through the other classes in this choice box, such as the age-probability pairs or the risk classes. |
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| or PercentageRisk |
Design Comments: The probability (expressed in percentages) of having the disease or mutation identified in the 'code' attribute of the source class. |
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| or Probability |
Design Comments: The probability of having the disease or mutation identified in the 'code' attribute of the source act. |
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| or RelativeRisk |
Design Comments: The probability of having the disease or mutation identified in the 'code' attribute of the source class. Relative risk is a ratio of the probability of the event occurring in the exposed group versus the control (non-exposed) group |
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| Age |
Design Comments: The age at which there is a probability of having the disease or mutation identified in the 'code' attribute of the source act. The probablity is represnetre in the target act. |
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| classCode [1..1] (M) Act (CS) {CNE:V:ActClassObservation, root= "OBS"} |
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| moodCode [1..1] (M) Act (CS) {CNE:V:ActMoodRisk, root= "RSK"} |
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| code [1..1] Act (CD) {CWE:D:ActCode} |
Design Comments: The code attribute shall hold a code representing the concept of "Age" in general. |
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| value [0..1] Observation (IVL<REAL>) |
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| pertinentInformation [1..1] (PertinentInformation) | |||||||||
| PertinentInformation | |||||||||
| typeCode [1..1] (M) ActRelationship (CS) {CNE:V:ActRelationshipPertains, root= "PERT"} |
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| probability [1..1] (Probability) |
Design Comments: The probability of having the disease or mutation identified in the 'code' attribute of the source act. |
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| Probability |
Design Comments: The probability of having the disease or mutation identified in the 'code' attribute of the source act. |
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| classCode [1..1] (M) Act (CS) {CNE:V:ActClassObservation, root= "OBS"} |
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| moodCode [1..1] (M) Act (CS) {CNE:V:ActMoodRisk, root= "RSK"} |
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| code [1..1] Act (CD) {CWE:D:ActCode} |
Design Comments: The code attribute shall hold a code representing the concept of "Probability". |
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| value [0..1] Observation (REAL) |
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| AnalysisResult |
Design Comments: This class is a catcher for any analysis that cannot be represented through the other classes in this choice box, such as the age-probability pairs or the risk classes. |
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| classCode [1..1] (M) Act (CS) {CNE:V:ActClassObservation, root= "OBS"} |
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| moodCode [1..1] (M) Act (CS) {CNE:V:ActMoodRisk, root= "RSK"} |
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| code [1..1] Act (CD) {CWE:D:ActCode} |
Design Comments: The code attribute shall hold a code representing the type of pedigree analysis. |
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| value [0..1] Observation (ANY) |
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| PercentageRisk |
Design Comments: The probability (expressed in percentages) of having the disease or mutation identified in the 'code' attribute of the source class. |
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| classCode [1..1] (M) Act (CS) {CNE:V:ActClassObservation, root= "OBS"} |
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| moodCode [1..1] (M) Act (CS) {CNE:V:ActMoodRisk, root= "RSK"} |
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| code [1..1] Act (CD) {CWE:D:ActCode} |
Design Comments: The code attribute shall hold a code representing the concept of "Percentage Risk". |
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| value [0..1] Observation (REAL) |
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| RelativeRisk |
Design Comments: The probability of having the disease or mutation identified in the 'code' attribute of the source class. Relative risk is a ratio of the probability of the event occurring in the exposed group versus the control (non-exposed) group |
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| classCode [1..1] (M) Act (CS) {CNE:V:ActClassObservation, root= "OBS"} |
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| moodCode [1..1] (M) Act (CS) {CNE:V:ActMoodRisk, root= "RSK"} |
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| code [1..1] Act (CD) {CWE:D:ActCode} |
Design Comments: The code attribute shall hold a code representing the concept of "Relative Risk". |
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| value [0..1] Observation (REAL) |
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| Component2 |
Design Comments: Use this association to represent a problem known in the family that cannot be attributed to a specific family member. |
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| typeCode [1..1] (M) ActRelationship (CS) {CNE:V:ActRelationshipHasComponent, root= "COMP"} |
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| clinicalGenomicChoice [1..1] (ClinicalGenomicChoice) | |||||||||