| COCT_HD340000UV Phenotype |
(Link to Excel View) Derived from RMIM: COCT_RM340000UV |
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| ObservedOrInterpretive | |||||||||
| performer [0..*] (Performer) | |||||||||
| author [0..*] (Author) | |||||||||
| participation [0..*] (Participant) | |||||||||
| derivedFrom [0..*] (DerivedFrom) | |||||||||
| choice of ObservedPhenotype |
Design Comments: Use this class to reference a phenotype that has been actually observed in the patient and is detailed elsewhere, e.g., in patient medical records. The attributes hold data replicated from the referenced phenotype and thus can be seen as its metadata / essential data. |
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| or InterpretivePhenotype |
Design Comments: Use this class to reference a phenotype known in the scientific literature to be associated with the source genomic observation and is detailed elsewhere, e.g., in knowledge bases, reference repositories and ontology's. Note that these phenotypes have not been observed necessarily in the subject and therefore their mood code is DEF (definitional). |
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| Performer | |||||||||
| typeCode [1..1] (M) Participation (CS) {CNE:V:ParticipationPhysicalPerformer, root= "PRF"} |
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| time [0..1] Participation (IVL<TS>) |
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| assignedEntity [1..1] (R_AssignedEntityUniversal) | |||||||||
| Author | |||||||||
| typeCode [1..1] (M) Participation (CS) {CNE:V:ParticipationAuthorOriginator, root= "AUT"} |
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| assignedEntity [1..1] (R_AssignedEntityUniversal) | |||||||||
| Participant | |||||||||
| typeCode [1..1] (M) Participation (CS) {CNE:V:ParticipationParticipation, root= "PART"} |
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| manufacturedProduct [1..1] (R_MedicationUniversal) | |||||||||
| DerivedFrom | |||||||||
| typeCode [1..1] (M) ActRelationship (CS) {CNE:V:ActRelationshipIsDerivedFrom, root= "DRIV"} |
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| clinicalStatement [1..1] (A_SupportingClinicalStatementUniversal) | |||||||||
| ObservedPhenotype |
Design Comments: Use this class to reference a phenotype that has been actually observed in the patient and is detailed elsewhere, e.g., in patient medical records. The attributes hold data replicated from the referenced phenotype and thus can be seen as its metadata / essential data. |
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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 [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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| derivationExpr [0..1] Observation (ST.SIMPLE) |
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| text [0..1] Observation (ED) |
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| statusCode [0..1] Observation (CS) {CNE:V:ActStatus} |
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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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| value [0..1] Observation (ANY) {CWE:D:ObservationValue} |
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| methodCode [0..*] Observation (DSET<CD>) {CWE:D:ObservationMethod} |
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| Inherits associations from ObservedOrInterpretive | |||||||||
| InterpretivePhenotype |
Design Comments: Use this class to reference a phenotype known in the scientific literature to be associated with the source genomic observation and is detailed elsewhere, e.g., in knowledge bases, reference repositories and ontology's. Note that these phenotypes have not been observed necessarily in the subject and therefore their mood code is DEF (definitional). |
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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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| 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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| derivationExpr [0..1] Observation (ST.SIMPLE) |
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| text [0..1] Observation (ED) |
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| statusCode [0..1] Observation (CS) {CNE:V:ActStatus} |
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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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| value [0..1] Observation (ANY) {CWE:D:ObservationValue} |
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| methodCode [0..*] Observation (DSET<CD>) {CWE:D:ObservationMethod} |
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| Inherits associations from ObservedOrInterpretive | |||||||||