Guidance on how to interpret the contents of this table can be found here

0. Observation
2. Observation.status
Fixed Valuefinal
4. Observation.code
6. Observation.code.coding
8. Observation.code.coding.system
Fixed Valuehttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
10. Observation.code.coding.version
NoteThis is a business version Id, not a resource version Id (see discussion)
Pattern Value3.0.0
12. Observation.code.coding.code
Fixed Valuediagnostic-implication
14. Observation.derivedFrom:rarelinkVariant
Slice NamerarelinkVariant
Control1..1
16. Observation.derivedFrom:rarelinkVariant.reference
Control1..?
18. Observation.component:evidenceLevel
Slice NameevidenceLevel
Control0..1
20. Observation.component:evidenceLevel.extension:workflow-relatedArtifactComponent
Slice Nameworkflow-relatedArtifactComponent
22. Observation.component:evidenceLevel.code
24. Observation.component:evidenceLevel.code.coding
26. Observation.component:evidenceLevel.code.coding.system
Fixed Valuehttp://loinc.org
28. Observation.component:evidenceLevel.code.coding.code
Pattern Value93044-6
30. Observation.component:evidenceLevel.value[x]
BindingThe codes SHALL be taken from Level of Evidence Value Set
(required to https://github.com/BIH-CEI/RareLink/ValueSet/level-of-evidence-vs)
TypeCodeableConcept
[x] NoteSeeChoice of Data Typesfor further information about how to use [x]
32. Observation.component:clinicalSignificance
Slice NameclinicalSignificance
Control0..1
34. Observation.component:clinicalSignificance.extension:workflow-relatedArtifactComponent
Slice Nameworkflow-relatedArtifactComponent
36. Observation.component:clinicalSignificance.code
38. Observation.component:clinicalSignificance.code.coding
40. Observation.component:clinicalSignificance.code.coding.system
Fixed Valuehttp://loinc.org
42. Observation.component:clinicalSignificance.code.coding.code
Pattern Value53037-8
44. Observation.component:clinicalSignificance.value[x]
BindingThe codes SHALL be taken from Clinical Significance Value Set
(required to https://github.com/BIH-CEI/RareLink/ValueSet/clinical-significance-vs)
TypeCodeableConcept
[x] NoteSeeChoice of Data Typesfor further information about how to use [x]
46. Observation.component:predictedPhenotype
Slice NamepredictedPhenotype
Control0..1
48. Observation.component:predictedPhenotype.extension:workflow-relatedArtifactComponent
Slice Nameworkflow-relatedArtifactComponent
50. Observation.component:predictedPhenotype.code
52. Observation.component:predictedPhenotype.code.coding
54. Observation.component:predictedPhenotype.code.coding.system
Fixed Valuehttp://loinc.org
56. Observation.component:predictedPhenotype.code.coding.code
Pattern Value81259-4
58. Observation.component:predictedPhenotype.value[x]
TypeCodeableConcept
[x] NoteSeeChoice of Data Typesfor further information about how to use [x]
60. Observation.component:predictedPhenotype.value[x].coding
SlicingThis element introduces a set of slices on Observation.component.value[x].coding. The slices areUnordered and Closed, and can be differentiated using the following discriminators:
  • value @ system
  • 62. Observation.component:predictedPhenotype.value[x].coding:mondo
    Slice Namemondo
    Control0..*
    64. Observation.component:predictedPhenotype.value[x].coding:mondo.system
    Control1..?
    Fixed Valuehttp://purl.obolibrary.org/obo/mondo.owl
    66. Observation.component:predictedPhenotype.value[x].coding:omim
    Slice Nameomim
    Control0..*
    68. Observation.component:predictedPhenotype.value[x].coding:omim.system
    Control1..?
    Fixed Valuehttp://omim.org