Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

Resource Profile: Therapeutic Implication

Official URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication Version: 3.0.1-SNAPSHOT
Active as of 2024-05-15 Computable Name: TherapeuticImplication

Copyright/Legal: This material contains content from LOINC (http://loinc.org). LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license. LOINC® is a registered United States trademark of Regenstrief Institute, Inc.

Observation stating a therapeutic annotation (e.g. drug susceptibility, clinical trial eligibility) on one or more genotype/haplotype/variant/biomarker observations.

This section provides guidance for genomic reporting about the implication of a patient's genetics on the behavior of one or more medications or other therapeutic alternatives (such as clinical trials). This portion of the implementation guide relies on the content in the General Genomic Reporting and Variant Reporting portions of this implementation guide. Pharmacogenomic reports supplement this information with a set of pharmacogenomic-specific implication profiles. Implementers of pharmacogenomic reporting may also be interested in the Somatic Reporting section of this implementation guide.

Communicating disease or tumor context

In general, treatments and medications have a set of indications for use which are not explicitly stated. However, if a pharmacogenomics statement has a specific context of a disease or a tumor use the component phenotypic-treatment-context to indicate the disease.

Pharmacogenomic-specific Genomic Implications

Diagram showing the 3 medication implication profiles and the associated Medication Recommendation task

Figure 1: Pharmacogenomic Implications

(Profile links: Genomic Implication, Therapeutic Implication, Medication Recommendadtion)

There are two ways to communicate details about a medication whose implication is being described. The profile component medication-assessed is the place to communicate a simple code for the medication. If more detail about the medication is to be shared, use the extension named medication-assessed-reference. The extension can refer to a Medication or MedicationKnowledge resource. This might be used to share specific classification details if they are important as part of the implication being described. It is important to note that since there two ways to do this, implementers SHALL ensure consistent usage. If both the extension and component are used at the same time, they SHALL deliver the same medication. Because this is an international profile, no guidance is provided on drug coding systems.

It is important to note there are also two ways to communicate details about non-medication therapies (e.g. altered diet, radiation therapy, surgery, etc.). The profile component therapy-assessed is the place to communicate a simple code for the therapy. If more detail about the therapy is to be shared, use the extension named therapy-assessed-reference. The extension can refer to a CarePlan, ResearchStudy, or PlanDefinition resource. It is important to note that since there two ways to do this, implementers SHALL ensure consistent usage. If both the extension and component are used at the same time, they SHALL deliver the same therapy. Because this is an international profile, no guidance is provided on therapy coding systems.

The component therapeutic-implication lists one or more ramifications based on the presence of associated molecular finding(s), which may include:

  • Alterations in drug metabolism (or pharmacokinetics) that determine the concentration of the drug, prodrug, and/or break-down products over time;
  • Alterations in drug efficacy (or pharmacodynamics) that determine how effective a drug is at a given concentration;
  • Alterations that alter the risk of adverse drug events, or other types of implications that indicate altered responsiveness to other types of therapies or eligibility for clinical trials;
  • Other pharmacogenomic statements as necessary, by extending the valueSet.

Including Pharmacogenomic recommended actions

To associate a therapeutic implication instance with a recommendation (e.g. discontinuing a medication, altering dosage, choose alternative medication) use Medication Recommendation, Followup Recommendation, along with current medication if appropriate. Use the Related Artifact extension for supporting documents such as CPIC guidelines.

Medication Recommendation tasks link to therapeutic implications through reasonReference and are included in the report using the recommended-action extension. The therapeutic implications do not have a link to medication recommendations, so the revinclude search parameter can be used to find the therapeutic implication statements relevant to the recommendations.

Note: If multiple medications are used in medication assessed, the usage implication should describe the combined effect.

Note 2: Implementers may also be interested in the Somatic Reporting and Pharmacogenomics Reporting sections of this implementation guide.

evidence-level versus clinical-significance

See Genomic Implication for guidance.

Differentiating AND vs OR

See Genomic Implication for guidance. Implication fields affected by this guidance include: derivedFrom, evidence-level, therapeutic-implication, phenotypic-treatment-context, medication-assessed, therapy-assessed.

Usage:

Formal Views of Profile Content

Description of Profiles, Differentials, Snapshots and how the different presentations work.

This structure is derived from GenomicImplication

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation 0..* GenomicImplication Therapeutic Implication
... code 1..1 CodeableConcept therapeutic-implication
Required Pattern: At least the following
.... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: therapeutic-implication
... Slices for component Content/Rules for all slices
.... component:therapeutic-implication 0..* BackboneElement Therapeutic Implication
..... Slices for extension Content/Rules for all slices
...... extension:related-artifact 0..* RelatedArtifactComponent Related Artifact for Observation component
..... code 1..1 CodeableConcept therapeutic-implication
Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: therapeutic-implication
..... value[x] 1..1 CodeableConcept Responsive | Resistant | Poor metabolizer | Rapid metabolizer | Decreased function | Increased function | Does not meet eligibility criteria for clinical trial | ... (more)
Binding: Genetic Therapeutic Implications (extensible)
.... component:phenotypic-treatment-context 0..* BackboneElement Phenotypic treatment context
..... Slices for extension Content/Rules for all slices
...... extension:related-artifact 0..* RelatedArtifactComponent Related Artifact for Observation component
..... code 1..1 CodeableConcept 81259-4
Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 81259-4
..... value[x] 1..1 CodeableConcept Contextual phenotype/condition code
Binding: (unbound) (example): Binding not yet defined (examples: SNOMED CT Clinical findings, ICD-10-CM chapters 1-18, HPO terms)

.... component:medication-assessed 0..* BackboneElement Medication Assessed
..... Slices for extension Content/Rules for all slices
...... extension:related-artifact 0..* RelatedArtifactComponent Related Artifact for Observation component
...... medication-assessed-reference 0..* Reference(Medication | MedicationKnowledge) Medication Assessed reference to a FHIR resource
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/medication-assessed-reference
..... code 1..1 CodeableConcept 51963-7
Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 51963-7
..... value[x] 1..1 CodeableConcept Medication code
Binding: (unbound) (example): Binding not yet defined (RxNorm or similar)

.... component:therapy-assessed 0..* BackboneElement Non-medication therapy assessed
..... Slices for extension Content/Rules for all slices
...... extension:related-artifact 0..* RelatedArtifactComponent Related Artifact for Observation component
...... therapy-assessed-reference 0..* Reference(CarePlan | ResearchStudy | PlanDefinition) Therapy Assessed reference to a FHIR resource
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapy-assessed-reference
..... code 1..1 CodeableConcept associated-therapy
Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: associated-therapy
..... value[x] 1..1 CodeableConcept Actual component result
Binding: (unbound) (example): Binding not yet defined


doco Documentation for this format

Terminology Bindings (Differential)

PathConformanceValueSetURI
Observation.component:therapeutic-implication.value[x]extensibleGeneticTherapeuticImplicationsVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/genetic-therapeutic-implications-vs
from this IG
Observation.component:phenotypic-treatment-context.value[x]example
Observation.component:medication-assessed.value[x]example
Observation.component:therapy-assessed.value[x]example
NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation C 0..* GenomicImplication Therapeutic Implication
obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present
obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... Slices for extension Content/Rules for all slices
.... secondary-finding 0..1 CodeableConcept Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings
URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding
Binding: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding.


.... body-structure 0..1 Reference(BodyStructure) Target anatomic location or structure
URL: http://hl7.org/fhir/StructureDefinition/bodySite
.... workflow-relatedArtifact 0..* RelatedArtifact Documentation relevant to the 'parent' resource
URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... Slices for category 2..* CodeableConcept Classification of type of observation
Slice: Unordered, Open by value:coding
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


.... category:labCategory 1..1 CodeableConcept Classification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


..... coding Σ 1..1 Coding Code defined by a terminology system

Required Pattern: At least the following
...... system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: laboratory
.... category:geCategory 1..1 CodeableConcept Classification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


..... coding Σ 1..1 Coding Code defined by a terminology system

Required Pattern: At least the following
...... system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/v2-0074
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: GE
... code Σ 1..1 CodeableConcept therapeutic-implication
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
.... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: therapeutic-implication
... Slices for derivedFrom Σ 1..* Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) Related measurements the observation is made from
Slice: Unordered, Open by profile:resolve()
.... derivedFrom:variant Σ 0..* Reference(Variant) Variant the implication is derived from
.... derivedFrom:genotype Σ 0..* Reference(Genotype) Genotype the implication is derived from
.... derivedFrom:haplotype Σ 0..* Reference(Haplotype) Haplotype the implication is derived from
.... derivedFrom:biomarker Σ 0..* Reference(Molecular Biomarker) MolecularBiomarker the implication is derived from
... Slices for component Σ 0..* BackboneElement Component results
Slice: Unordered, Open by pattern:code
.... component:All Slices Content/Rules for all slices
..... Slices for extension Content/Rules for all slices
...... related-artifact 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/related-artifact-component
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.

.... component:conclusion-string Σ 0..1 BackboneElement Clinical Conclusion
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept conclusion-string
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: conclusion-string
.... component:evidence-level Σ 0..* BackboneElement Level of Evidence
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept 93044-6
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 93044-6
..... value[x] Σ 1..1 CodeableConcept 1A | 1B | 2A | 2B | 3 | 4 | 4-star | 3-star | 2-star | 1-star | no-star
Binding: Evidence Level Examples (example): PharmGKB or ClinVar

.... component:clinical-significance Σ 0..1 BackboneElement Clinical significance
..... Slices for extension Content/Rules for all slices
...... related-artifact 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/related-artifact-component
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept 53037-8
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 53037-8
..... value[x] Σ 1..1 CodeableConcept Pathogenic | Likely pathogenic | Uncertain significance | Likely benign | Benign
Binding: LOINC Answer List LL4034-6 (example)
.... component:therapeutic-implication Σ 0..* BackboneElement Therapeutic Implication
..... Slices for extension Content/Rules for all slices
...... related-artifact 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/related-artifact-component
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept therapeutic-implication
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: therapeutic-implication
..... value[x] Σ 1..1 CodeableConcept Responsive | Resistant | Poor metabolizer | Rapid metabolizer | Decreased function | Increased function | Does not meet eligibility criteria for clinical trial | ... (more)
Binding: Genetic Therapeutic Implications (extensible)
.... component:phenotypic-treatment-context Σ 0..* BackboneElement Phenotypic treatment context
..... Slices for extension Content/Rules for all slices
...... related-artifact 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/related-artifact-component
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept 81259-4
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 81259-4
..... value[x] Σ 1..1 CodeableConcept Contextual phenotype/condition code
Binding: (unbound) (example): Binding not yet defined (examples: SNOMED CT Clinical findings, ICD-10-CM chapters 1-18, HPO terms)

.... component:medication-assessed Σ 0..* BackboneElement Medication Assessed
..... Slices for extension Content/Rules for all slices
...... related-artifact 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/related-artifact-component
...... medication-assessed-reference 0..* Reference(Medication | MedicationKnowledge) Medication Assessed reference to a FHIR resource
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/medication-assessed-reference
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept 51963-7
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 51963-7
..... value[x] Σ 1..1 CodeableConcept Medication code
Binding: (unbound) (example): Binding not yet defined (RxNorm or similar)

.... component:therapy-assessed Σ 0..* BackboneElement Non-medication therapy assessed
..... Slices for extension Content/Rules for all slices
...... related-artifact 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/related-artifact-component
...... therapy-assessed-reference 0..* Reference(CarePlan | ResearchStudy | PlanDefinition) Therapy Assessed reference to a FHIR resource
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapy-assessed-reference
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept associated-therapy
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: associated-therapy
..... value[x] Σ 1..1 CodeableConcept Actual component result
Binding: (unbound) (example): Binding not yet defined


doco Documentation for this format

Terminology Bindings

PathConformanceValueSet / CodeURI
Observation.statusrequiredObservationStatus
http://hl7.org/fhir/ValueSet/observation-status|4.0.1
from the FHIR Standard
Observation.categorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.category:labCategorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.category:geCategorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.codeexamplePattern: therapeutic-implication
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component.codeexampleLOINCCodes (a valid code from LOINC)
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:conclusion-string.codeexamplePattern: conclusion-string
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:evidence-level.codeexamplePattern: LOINC code 93044-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:evidence-level.value[x]exampleEvidenceLevelExampleVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/evidence-level-example-vs
from this IG
Observation.component:clinical-significance.codeexamplePattern: LOINC code 53037-8
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:clinical-significance.value[x]exampleLOINC LL4034-6
http://loinc.org/vs/LL4034-6
Observation.component:therapeutic-implication.codeexamplePattern: therapeutic-implication
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:therapeutic-implication.value[x]extensibleGeneticTherapeuticImplicationsVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/genetic-therapeutic-implications-vs
from this IG
Observation.component:phenotypic-treatment-context.codeexamplePattern: LOINC code 81259-4
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:phenotypic-treatment-context.value[x]example
Observation.component:medication-assessed.codeexamplePattern: LOINC code 51963-7
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:medication-assessed.value[x]example
Observation.component:therapy-assessed.codeexamplePattern: associated-therapy
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:therapy-assessed.value[x]example

Constraints

IdGradePath(s)DetailsRequirements
dom-2errorObservationIf the resource is contained in another resource, it SHALL NOT contain nested Resources
: contained.contained.empty()
dom-3errorObservationIf the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource
: contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4errorObservationIf a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated
: contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5errorObservationIf a resource is contained in another resource, it SHALL NOT have a security label
: contained.meta.security.empty()
dom-6best practiceObservationA resource should have narrative for robust management
: text.`div`.exists()
ele-1error**ALL** elementsAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1error**ALL** extensionsMust have either extensions or value[x], not both
: extension.exists() != value.exists()
obs-6errorObservationdataAbsentReason SHALL only be present if Observation.value[x] is not present
: dataAbsentReason.empty() or value.empty()
obs-7errorObservationIf Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
: value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty()
NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation C 0..* GenomicImplication Therapeutic Implication
obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present
obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
... id Σ 0..1 id Logical id of this artifact
... meta Σ 0..1 Meta Metadata about the resource
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... language 0..1 code Language of the resource content
Binding: CommonLanguages (preferred): A human language.

Additional BindingsPurpose
AllLanguages Max Binding
... text 0..1 Narrative Text summary of the resource, for human interpretation
... contained 0..* Resource Contained, inline Resources
... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by pattern:url
.... secondary-finding 0..1 CodeableConcept Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings
URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding
Binding: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding.


.... body-structure 0..1 Reference(BodyStructure) Target anatomic location or structure
URL: http://hl7.org/fhir/StructureDefinition/bodySite
.... workflow-relatedArtifact 0..* RelatedArtifact Documentation relevant to the 'parent' resource
URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... identifier Σ 0..* Identifier Business Identifier for observation
... basedOn Σ 0..* Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) Fulfills plan, proposal or order
... partOf Σ 0..* Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy | Genomic Study) Part of referenced event
... status ?!Σ 1..1 code registered | preliminary | final | amended +
Binding: ObservationStatus (required): Codes providing the status of an observation.

... Slices for category 2..* CodeableConcept Classification of type of observation
Slice: Unordered, Open by value:coding
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


.... category:labCategory 1..1 CodeableConcept Classification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... coding Σ 1..1 Coding Code defined by a terminology system

Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
...... version 0..1 string Version of the system - if relevant
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: laboratory
...... display 0..1 string Representation defined by the system
...... userSelected 0..1 boolean If this coding was chosen directly by the user
..... text Σ 0..1 string Plain text representation of the concept
.... category:geCategory 1..1 CodeableConcept Classification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... coding Σ 1..1 Coding Code defined by a terminology system

Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/v2-0074
...... version 0..1 string Version of the system - if relevant
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: GE
...... display 0..1 string Representation defined by the system
...... userSelected 0..1 boolean If this coding was chosen directly by the user
..... text Σ 0..1 string Plain text representation of the concept
... code Σ 1..1 CodeableConcept therapeutic-implication
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
..... version 0..1 string Version of the system - if relevant
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: therapeutic-implication
..... display 0..1 string Representation defined by the system
..... userSelected 0..1 boolean If this coding was chosen directly by the user
.... text 0..1 string Plain text representation of the concept
... subject Σ 0..1 Reference(Patient | Group | Device | Location) Who and/or what the observation is about
... focus Σ 0..* Reference(Resource) What the observation is about, when it is not about the subject of record
... encounter Σ 0..1 Reference(Encounter) Healthcare event during which this observation is made
... effective[x] Σ 0..1 Clinically relevant time/time-period for observation
.... effectiveDateTime dateTime
.... effectivePeriod Period
.... effectiveTiming Timing
.... effectiveInstant instant
... issued Σ 0..1 instant Date/Time this version was made available
... performer Σ 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson) Who is responsible for the observation
... dataAbsentReason C 0..1 CodeableConcept Why the result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.


... note 0..* CodedAnnotation Comments about the Observation that also contain a coded type
... bodySite 0..1 CodeableConcept Observed body part
Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.

... method 0..1 CodeableConcept How it was done
Binding: ObservationMethods (example): Methods for simple observations.

... specimen 0..1 Reference(Specimen) Specimen used for this observation
... device 0..1 Reference(Device | DeviceMetric) (Measurement) Device
... referenceRange C 0..* BackboneElement Provides guide for interpretation
obs-3: Must have at least a low or a high or text
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... low C 0..1 SimpleQuantity Low Range, if relevant
.... high C 0..1 SimpleQuantity High Range, if relevant
.... type 0..1 CodeableConcept Reference range qualifier
Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.

.... appliesTo 0..* CodeableConcept Reference range population
Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to.


.... age 0..1 Range Applicable age range, if relevant
.... text 0..1 string Text based reference range in an observation
... hasMember Σ 0..* Reference(Observation | QuestionnaireResponse | MolecularSequence) Related resource that belongs to the Observation group
... Slices for derivedFrom Σ 1..* Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) Related measurements the observation is made from
Slice: Unordered, Open by profile:resolve()
.... derivedFrom:variant Σ 0..* Reference(Variant) Variant the implication is derived from
.... derivedFrom:genotype Σ 0..* Reference(Genotype) Genotype the implication is derived from
.... derivedFrom:haplotype Σ 0..* Reference(Haplotype) Haplotype the implication is derived from
.... derivedFrom:biomarker Σ 0..* Reference(Molecular Biomarker) MolecularBiomarker the implication is derived from
... Slices for component Σ 0..* BackboneElement Component results
Slice: Unordered, Open by pattern:code
.... component:All Slices Content/Rules for all slices
..... id 0..1 string Unique id for inter-element referencing
..... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
...... related-artifact 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/related-artifact-component
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.

..... value[x] Σ 0..1 Actual component result
...... valueQuantity Quantity
...... valueCodeableConcept CodeableConcept
...... valueString string
...... valueBoolean boolean
...... valueInteger integer
...... valueRange Range
...... valueRatio Ratio
...... valueSampledData SampledData
...... valueTime time
...... valueDateTime dateTime
...... valuePeriod Period
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.


..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:conclusion-string Σ 0..1 BackboneElement Clinical Conclusion
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept conclusion-string
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: conclusion-string
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
..... value[x] Σ 0..1 string Summary conclusion (interpretation/impression)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.


..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:evidence-level Σ 0..* BackboneElement Level of Evidence
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Extension
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept 93044-6
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 93044-6
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept 1A | 1B | 2A | 2B | 3 | 4 | 4-star | 3-star | 2-star | 1-star | no-star
Binding: Evidence Level Examples (example): PharmGKB or ClinVar

..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.


..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:clinical-significance Σ 0..1 BackboneElement Clinical significance
..... id 0..1 string Unique id for inter-element referencing
..... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
...... related-artifact 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/related-artifact-component
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept 53037-8
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 53037-8
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept Pathogenic | Likely pathogenic | Uncertain significance | Likely benign | Benign
Binding: LOINC Answer List LL4034-6 (example)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.


..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:therapeutic-implication Σ 0..* BackboneElement Therapeutic Implication
..... id 0..1 string Unique id for inter-element referencing
..... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
...... related-artifact 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/related-artifact-component
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept therapeutic-implication
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: therapeutic-implication
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept Responsive | Resistant | Poor metabolizer | Rapid metabolizer | Decreased function | Increased function | Does not meet eligibility criteria for clinical trial | ... (more)
Binding: Genetic Therapeutic Implications (extensible)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.


..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:phenotypic-treatment-context Σ 0..* BackboneElement Phenotypic treatment context
..... id 0..1 string Unique id for inter-element referencing
..... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
...... related-artifact 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/related-artifact-component
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept 81259-4
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 81259-4
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept Contextual phenotype/condition code
Binding: (unbound) (example): Binding not yet defined (examples: SNOMED CT Clinical findings, ICD-10-CM chapters 1-18, HPO terms)

..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.


..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:medication-assessed Σ 0..* BackboneElement Medication Assessed
..... id 0..1 string Unique id for inter-element referencing
..... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
...... related-artifact 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/related-artifact-component
...... medication-assessed-reference 0..* Reference(Medication | MedicationKnowledge) Medication Assessed reference to a FHIR resource
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/medication-assessed-reference
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept 51963-7
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 51963-7
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept Medication code
Binding: (unbound) (example): Binding not yet defined (RxNorm or similar)

..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.


..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:therapy-assessed Σ 0..* BackboneElement Non-medication therapy assessed
..... id 0..1 string Unique id for inter-element referencing
..... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
...... related-artifact 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/related-artifact-component
...... therapy-assessed-reference 0..* Reference(CarePlan | ResearchStudy | PlanDefinition) Therapy Assessed reference to a FHIR resource
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapy-assessed-reference
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept associated-therapy
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: associated-therapy
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept Actual component result
Binding: (unbound) (example): Binding not yet defined

..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.


..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result

doco Documentation for this format

Terminology Bindings

PathConformanceValueSet / CodeURI
Observation.languagepreferredCommonLanguages
Additional Bindings Purpose
AllLanguages Max Binding
http://hl7.org/fhir/ValueSet/languages
from the FHIR Standard
Observation.statusrequiredObservationStatus
http://hl7.org/fhir/ValueSet/observation-status|4.0.1
from the FHIR Standard
Observation.categorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.category:labCategorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.category:geCategorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.codeexamplePattern: therapeutic-implication
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.bodySiteexampleSNOMEDCTBodyStructures
http://hl7.org/fhir/ValueSet/body-site
from the FHIR Standard
Observation.methodexampleObservationMethods
http://hl7.org/fhir/ValueSet/observation-methods
from the FHIR Standard
Observation.referenceRange.typepreferredObservationReferenceRangeMeaningCodes
http://hl7.org/fhir/ValueSet/referencerange-meaning
from the FHIR Standard
Observation.referenceRange.appliesToexampleObservationReferenceRangeAppliesToCodes
http://hl7.org/fhir/ValueSet/referencerange-appliesto
from the FHIR Standard
Observation.component.codeexampleLOINCCodes (a valid code from LOINC)
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:conclusion-string.codeexamplePattern: conclusion-string
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:conclusion-string.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:conclusion-string.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:evidence-level.codeexamplePattern: LOINC code 93044-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:evidence-level.value[x]exampleEvidenceLevelExampleVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/evidence-level-example-vs
from this IG
Observation.component:evidence-level.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:evidence-level.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:clinical-significance.codeexamplePattern: LOINC code 53037-8
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:clinical-significance.value[x]exampleLOINC LL4034-6
http://loinc.org/vs/LL4034-6
Observation.component:clinical-significance.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:clinical-significance.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:therapeutic-implication.codeexamplePattern: therapeutic-implication
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:therapeutic-implication.value[x]extensibleGeneticTherapeuticImplicationsVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/genetic-therapeutic-implications-vs
from this IG
Observation.component:therapeutic-implication.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:therapeutic-implication.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:phenotypic-treatment-context.codeexamplePattern: LOINC code 81259-4
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:phenotypic-treatment-context.value[x]example
Observation.component:phenotypic-treatment-context.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:phenotypic-treatment-context.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:medication-assessed.codeexamplePattern: LOINC code 51963-7
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:medication-assessed.value[x]example
Observation.component:medication-assessed.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:medication-assessed.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:therapy-assessed.codeexamplePattern: associated-therapy
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:therapy-assessed.value[x]example
Observation.component:therapy-assessed.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:therapy-assessed.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard

Constraints

IdGradePath(s)DetailsRequirements
dom-2errorObservationIf the resource is contained in another resource, it SHALL NOT contain nested Resources
: contained.contained.empty()
dom-3errorObservationIf the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource
: contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4errorObservationIf a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated
: contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5errorObservationIf a resource is contained in another resource, it SHALL NOT have a security label
: contained.meta.security.empty()
dom-6best practiceObservationA resource should have narrative for robust management
: text.`div`.exists()
ele-1error**ALL** elementsAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1error**ALL** extensionsMust have either extensions or value[x], not both
: extension.exists() != value.exists()
obs-3errorObservation.referenceRangeMust have at least a low or a high or text
: low.exists() or high.exists() or text.exists()
obs-6errorObservationdataAbsentReason SHALL only be present if Observation.value[x] is not present
: dataAbsentReason.empty() or value.empty()
obs-7errorObservationIf Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
: value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty()

This structure is derived from GenomicImplication

Differential View

This structure is derived from GenomicImplication

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation 0..* GenomicImplication Therapeutic Implication
... code 1..1 CodeableConcept therapeutic-implication
Required Pattern: At least the following
.... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: therapeutic-implication
... Slices for component Content/Rules for all slices
.... component:therapeutic-implication 0..* BackboneElement Therapeutic Implication
..... Slices for extension Content/Rules for all slices
...... extension:related-artifact 0..* RelatedArtifactComponent Related Artifact for Observation component
..... code 1..1 CodeableConcept therapeutic-implication
Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: therapeutic-implication
..... value[x] 1..1 CodeableConcept Responsive | Resistant | Poor metabolizer | Rapid metabolizer | Decreased function | Increased function | Does not meet eligibility criteria for clinical trial | ... (more)
Binding: Genetic Therapeutic Implications (extensible)
.... component:phenotypic-treatment-context 0..* BackboneElement Phenotypic treatment context
..... Slices for extension Content/Rules for all slices
...... extension:related-artifact 0..* RelatedArtifactComponent Related Artifact for Observation component
..... code 1..1 CodeableConcept 81259-4
Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 81259-4
..... value[x] 1..1 CodeableConcept Contextual phenotype/condition code
Binding: (unbound) (example): Binding not yet defined (examples: SNOMED CT Clinical findings, ICD-10-CM chapters 1-18, HPO terms)

.... component:medication-assessed 0..* BackboneElement Medication Assessed
..... Slices for extension Content/Rules for all slices
...... extension:related-artifact 0..* RelatedArtifactComponent Related Artifact for Observation component
...... medication-assessed-reference 0..* Reference(Medication | MedicationKnowledge) Medication Assessed reference to a FHIR resource
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/medication-assessed-reference
..... code 1..1 CodeableConcept 51963-7
Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 51963-7
..... value[x] 1..1 CodeableConcept Medication code
Binding: (unbound) (example): Binding not yet defined (RxNorm or similar)

.... component:therapy-assessed 0..* BackboneElement Non-medication therapy assessed
..... Slices for extension Content/Rules for all slices
...... extension:related-artifact 0..* RelatedArtifactComponent Related Artifact for Observation component
...... therapy-assessed-reference 0..* Reference(CarePlan | ResearchStudy | PlanDefinition) Therapy Assessed reference to a FHIR resource
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapy-assessed-reference
..... code 1..1 CodeableConcept associated-therapy
Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: associated-therapy
..... value[x] 1..1 CodeableConcept Actual component result
Binding: (unbound) (example): Binding not yet defined


doco Documentation for this format

Terminology Bindings (Differential)

PathConformanceValueSetURI
Observation.component:therapeutic-implication.value[x]extensibleGeneticTherapeuticImplicationsVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/genetic-therapeutic-implications-vs
from this IG
Observation.component:phenotypic-treatment-context.value[x]example
Observation.component:medication-assessed.value[x]example
Observation.component:therapy-assessed.value[x]example

Key Elements View

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation C 0..* GenomicImplication Therapeutic Implication
obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present
obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... Slices for extension Content/Rules for all slices
.... secondary-finding 0..1 CodeableConcept Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings
URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding
Binding: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding.


.... body-structure