Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild 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: 4.0.0-cibuild
Standards status: Trial-use | Maturity Level: 2 | 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

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.

Usages:

- Refer to this Profile: Followup Recommendation, Genomic Report and Medication Recommendation
- Examples for this Profile: Observation/EGFR-L858R-therapuDrug1, Observation/EGFR-L858R-therapuDrug2, Observation/ROS1-Fusion-therapuDrug, Observation/ROS1-Fusion-therapuTrial... Show 13 more, Observation/TMB-therapuDrug, Observation/Therapeutic-Implication-Clinical-Trial-2, Observation/Therapeutic-Implication-Clinical-Trial-Somatic, Observation/TherapeuticImplicationExample1, Observation/TxImp01, Observation/TxImp02, Observation/TxImp03, Observation/TxImp04, Observation/TxImp05, Observation/TxImp06, Observation/therapuDrug1-interact-smn1-smn2, Observation/therapuDrug2-interact-smn1-smn2 and Observation/therapuDrug3-interact-smn1-smn2

You can also check for usages in the FHIR IG Statistics

### Formal Views of Profile Content

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

- Key Elements Table
- Differential Table
- Snapshot Table
- Statistics/References
- All

Name | Flags | Card. | Type | Description & Constraints Filter: Bindings Constraints Obligations
--- | --- | --- | --- | ---
Observation | C | 0..* | GenomicImplication | Therapeutic Implication Constraints: obs-6, obs-7
implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created
Slices for extension |  |  |  | Content/Rules for all slices
extension: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.
extension:body-structure |  | 0..1 | Reference(BodyStructure) | Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite
extension: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
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.
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
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
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
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
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 value:code
component:All Slices |  |  |  | Content/Rules for all slices
Slices for extension |  |  |  | Content/Rules for all slices
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
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
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
component:evidence-level | Σ | 0..* | BackboneElement | Level of Evidence
Slices for extension |  |  |  | Content/Rules for all slices
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
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
component:clinical-significance | Σ | 0..1 | BackboneElement | Clinical significance
Slices for extension |  |  |  | Content/Rules for all slices
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
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)
component:knowledge-base | Σ | 0..1 | BackboneElement | Knowledge Base
Slices for extension |  |  |  | Content/Rules for all slices
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized
code | Σ | 1..1 | CodeableConcept | knowledge-base 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: knowledge-base
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: Knowledge Base Version Codes (example)
component:annotation-pipeline | Σ | 0..1 | BackboneElement | Annotation Pipeline
Slices for extension |  |  |  | Content/Rules for all slices
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized
code | Σ | 1..1 | CodeableConcept | annotation-pipeline 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: annotation-pipeline
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
component:therapeutic-implication | Σ | 0..* | BackboneElement | Therapeutic Implication
Slices for extension |  |  |  | Content/Rules for all slices
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
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)
component:phenotypic-treatment-context | Σ | 0..* | BackboneElement | Phenotypic treatment context
Slices for extension |  |  |  | Content/Rules for all slices
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
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 Description: (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
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
extension: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 Description: (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
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
extension: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 Description: (example): Binding not yet defined
Documentation for this format

#### Terminology Bindings

Path | Status | Usage | ValueSet | Version | Source
Observation.status | Base | required | ObservationStatus | 📍4.0.1 | FHIR Std.
Observation.category | Base | preferred | Observation Category Codes | 📍4.0.1 | FHIR Std.
Observation.category:labCategory | Base | preferred | Observation Category Codes | 📍4.0.1 | FHIR Std.
Observation.category:geCategory | Base | preferred | Observation Category Codes | 📍4.0.1 | FHIR Std.
Observation.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:conclusion-string.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:evidence-level.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:evidence-level.​value[x] | Base | example | Evidence Level Examples | 📦4.0.0-cibuild | This IG
Observation.component:clinical-significance.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:clinical-significance.​value[x] | Base | example | LOINC Answer Codes for LL4034-6 | ∅ | unknown?
Observation.component:knowledge-base.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:knowledge-base.​value[x] | Base | example | Knowledge Base Version Codes | 📦4.0.0-cibuild | This IG
Observation.component:annotation-pipeline.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:therapeutic-implication.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:therapeutic-implication.​value[x] | Base | extensible | Genetic Therapeutic Implications | 📦4.0.0-cibuild | This IG
Observation.component:phenotypic-treatment-context.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:phenotypic-treatment-context.​value[x] | Base | example |  | Not State | Unknown
Observation.component:medication-assessed.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:medication-assessed.​value[x] | Base | example |  | Not State | Unknown
Observation.component:therapy-assessed.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:therapy-assessed.​value[x] | Base | example |  | Not State | Unknown

#### Constraints

Id | Grade | Path(s) | Description | Expression
dom-2 | error | Observation | If the resource is contained in another resource, it SHALL NOT contain nested Resources | `contained.contained.empty()`
dom-3 | error | Observation | If 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-4 | error | Observation | If 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-5 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a security label | `contained.meta.security.empty()`
dom-6 | best practice | Observation | A resource should have narrative for robust management | `text.`div`.exists()`
ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children | `hasValue() or (children().count() > id.count())`
ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both | `extension.exists() != value.exists()`
obs-6 | error | Observation | dataAbsentReason SHALL only be present if Observation.value[x] is not present | `dataAbsentReason.empty() or value.empty()`
obs-7 | error | Observation | If 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

Name | Flags | Card. | Type | Description & Constraints Filter: Bindings Constraints Obligations
--- | --- | --- | --- | ---
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:workflow-relatedArtifact |  | 0..* | RelatedArtifact(5.2.0) | Documentation relevant to the 'parent' resource
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:workflow-relatedArtifact |  | 0..* | RelatedArtifact(5.2.0) | Documentation relevant to the 'parent' resource
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 Description: (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:workflow-relatedArtifact |  | 0..* | RelatedArtifact(5.2.0) | Documentation relevant to the 'parent' resource
extension: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 Description: (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:workflow-relatedArtifact |  | 0..* | RelatedArtifact(5.2.0) | Documentation relevant to the 'parent' resource
extension: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 Description: (example): Binding not yet defined
Documentation for this format

#### Terminology Bindings (Differential)

Path | Status | Usage | ValueSet | Version | Source
Observation.component:therapeutic-implication.​value[x] | Base | extensible | Genetic Therapeutic Implications | 📦4.0.0-cibuild | This IG
Observation.component:phenotypic-treatment-context.​value[x] | Base | example |  | Not State | Unknown
Observation.component:medication-assessed.​value[x] | Base | example |  | Not State | Unknown
Observation.component:therapy-assessed.​value[x] | Base | example |  | Not State | Unknown

Name | Flags | Card. | Type | Description & Constraints Filter: Bindings Constraints Obligations
--- | --- | --- | --- | ---
Observation | C | 0..* | GenomicImplication | Therapeutic Implication Constraints: obs-6, obs-7
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 Bindings | Purpose
AllLanguages | Max Binding
text |  | 0..1 | Narrative | Text summary of the resource, for human interpretation This profile does not constrain the narrative in regard to content, language, or traceability to data elements
contained |  | 0..* | Resource | Contained, inline Resources
Slices for extension |  | 0..* | Extension | Extension Slice: Unordered, Open by value:url
extension: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.
extension:body-structure |  | 0..1 | Reference(BodyStructure) | Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite
extension: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 Constraints: obs-3
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(4.0.1) | Low Range, if relevant
high | C | 0..1 | SimpleQuantity(4.0.1) | 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 value: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
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
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
Slices for extension |  | 0..* | Extension | Extension Slice: Unordered, Open by value:url
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
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
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
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:knowledge-base | Σ | 0..1 | BackboneElement | Knowledge Base
id |  | 0..1 | string | Unique id for inter-element referencing
Slices for extension |  | 0..* | Extension | Extension Slice: Unordered, Open by value:url
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized
code | Σ | 1..1 | CodeableConcept | knowledge-base 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: knowledge-base
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: Knowledge Base Version Codes (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:annotation-pipeline | Σ | 0..1 | BackboneElement | Annotation Pipeline
id |  | 0..1 | string | Unique id for inter-element referencing
Slices for extension |  | 0..* | Extension | Extension Slice: Unordered, Open by value:url
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized
code | Σ | 1..1 | CodeableConcept | annotation-pipeline 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: annotation-pipeline
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
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
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
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
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
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 Description: (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
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
extension: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 Description: (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
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
extension: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 Description: (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
Documentation for this format

#### Terminology Bindings

Path | Status | Usage | ValueSet | Version | Source
Observation.language | Base | preferred | Common Languages | 📍4.0.1 | FHIR Std.
Observation.status | Base | required | ObservationStatus | 📍4.0.1 | FHIR Std.
Observation.category | Base | preferred | Observation Category Codes | 📍4.0.1 | FHIR Std.
Observation.category:labCategory | Base | preferred | Observation Category Codes | 📍4.0.1 | FHIR Std.
Observation.category:geCategory | Base | preferred | Observation Category Codes | 📍4.0.1 | FHIR Std.
Observation.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.bodySite | Base | example | SNOMED CT Body Structures | 📍4.0.1 | FHIR Std.
Observation.method | Base | example | Observation Methods | 📍4.0.1 | FHIR Std.
Observation.referenceRange.​type | Base | preferred | Observation Reference Range Meaning Codes | 📍4.0.1 | FHIR Std.
Observation.referenceRange.​appliesTo | Base | example | Observation Reference Range Applies To Codes | 📍4.0.1 | FHIR Std.
Observation.component.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component.​dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.component.​interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.component:conclusion-string.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:conclusion-string.​dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.component:conclusion-string.​interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.component:evidence-level.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:evidence-level.​value[x] | Base | example | Evidence Level Examples | 📦4.0.0-cibuild | This IG
Observation.component:evidence-level.​dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.component:evidence-level.​interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.component:clinical-significance.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:clinical-significance.​value[x] | Base | example | LOINC Answer Codes for LL4034-6 | ∅ | unknown?
Observation.component:clinical-significance.​dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.component:clinical-significance.​interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.component:knowledge-base.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:knowledge-base.​value[x] | Base | example | Knowledge Base Version Codes | 📦4.0.0-cibuild | This IG
Observation.component:knowledge-base.​dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.component:knowledge-base.​interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.component:annotation-pipeline.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:annotation-pipeline.​dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.component:annotation-pipeline.​interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.component:therapeutic-implication.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:therapeutic-implication.​value[x] | Base | extensible | Genetic Therapeutic Implications | 📦4.0.0-cibuild | This IG
Observation.component:therapeutic-implication.​dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.component:therapeutic-implication.​interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.component:phenotypic-treatment-context.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:phenotypic-treatment-context.​value[x] | Base | example |  | Not State | Unknown
Observation.component:phenotypic-treatment-context.​dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.component:phenotypic-treatment-context.​interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.component:medication-assessed.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:medication-assessed.​value[x] | Base | example |  | Not State | Unknown
Observation.component:medication-assessed.​dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.component:medication-assessed.​interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.component:therapy-assessed.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:therapy-assessed.​value[x] | Base | example |  | Not State | Unknown
Observation.component:therapy-assessed.​dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.component:therapy-assessed.​interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.

#### Constraints

Id | Grade | Path(s) | Description | Expression
dom-2 | error | Observation | If the resource is contained in another resource, it SHALL NOT contain nested Resources | `contained.contained.empty()`
dom-3 | error | Observation | If 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-4 | error | Observation | If 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-5 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a security label | `contained.meta.security.empty()`
dom-6 | best practice | Observation | A resource should have narrative for robust management | `text.`div`.exists()`
ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children | `hasValue() or (children().count() > id.count())`
ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both | `extension.exists() != value.exists()`
obs-3 | error | Observation.referenceRange | Must have at least a low or a high or text | `low.exists() or high.exists() or text.exists()`
obs-6 | error | Observation | dataAbsentReason SHALL only be present if Observation.value[x] is not present | `dataAbsentReason.empty() or value.empty()`
obs-7 | error | Observation | If 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

Summary

Mandatory: 0 element(4 nested mandatory elements)

Extensions

This structure refers to these extensions:

- http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/medication-assessed-reference
- http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapy-assessed-reference

Maturity: 2

Key Elements View

Name | Flags | Card. | Type | Description & Constraints Filter: Bindings Constraints Obligations
--- | --- | --- | --- | ---
Observation | C | 0..* | GenomicImplication | Therapeutic Implication Constraints: obs-6, obs-7
implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created
Slices for extension |  |  |  | Content/Rules for all slices
extension: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.
extension:body-structure |  | 0..1 | Reference(BodyStructure) | Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite
extension: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
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.
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
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
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
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
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 value:code
component:All Slices |  |  |  | Content/Rules for all slices
Slices for extension |  |  |  | Content/Rules for all slices
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
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
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
component:evidence-level | Σ | 0..* | BackboneElement | Level of Evidence
Slices for extension |  |  |  | Content/Rules for all slices
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
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
component:clinical-significance | Σ | 0..1 | BackboneElement | Clinical significance
Slices for extension |  |  |  | Content/Rules for all slices
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
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)
component:knowledge-base | Σ | 0..1 | BackboneElement | Knowledge Base
Slices for extension |  |  |  | Content/Rules for all slices
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized
code | Σ | 1..1 | CodeableConcept | knowledge-base 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: knowledge-base
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: Knowledge Base Version Codes (example)
component:annotation-pipeline | Σ | 0..1 | BackboneElement | Annotation Pipeline
Slices for extension |  |  |  | Content/Rules for all slices
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized
code | Σ | 1..1 | CodeableConcept | annotation-pipeline 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: annotation-pipeline
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
component:therapeutic-implication | Σ | 0..* | BackboneElement | Therapeutic Implication
Slices for extension |  |  |  | Content/Rules for all slices
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
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)
component:phenotypic-treatment-context | Σ | 0..* | BackboneElement | Phenotypic treatment context
Slices for extension |  |  |  | Content/Rules for all slices
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
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 Description: (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
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
extension: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 Description: (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
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
extension: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 Description: (example): Binding not yet defined
Documentation for this format

#### Terminology Bindings

Path | Status | Usage | ValueSet | Version | Source
Observation.status | Base | required | ObservationStatus | 📍4.0.1 | FHIR Std.
Observation.category | Base | preferred | Observation Category Codes | 📍4.0.1 | FHIR Std.
Observation.category:labCategory | Base | preferred | Observation Category Codes | 📍4.0.1 | FHIR Std.
Observation.category:geCategory | Base | preferred | Observation Category Codes | 📍4.0.1 | FHIR Std.
Observation.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:conclusion-string.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:evidence-level.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:evidence-level.​value[x] | Base | example | Evidence Level Examples | 📦4.0.0-cibuild | This IG
Observation.component:clinical-significance.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:clinical-significance.​value[x] | Base | example | LOINC Answer Codes for LL4034-6 | ∅ | unknown?
Observation.component:knowledge-base.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:knowledge-base.​value[x] | Base | example | Knowledge Base Version Codes | 📦4.0.0-cibuild | This IG
Observation.component:annotation-pipeline.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:therapeutic-implication.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:therapeutic-implication.​value[x] | Base | extensible | Genetic Therapeutic Implications | 📦4.0.0-cibuild | This IG
Observation.component:phenotypic-treatment-context.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:phenotypic-treatment-context.​value[x] | Base | example |  | Not State | Unknown
Observation.component:medication-assessed.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:medication-assessed.​value[x] | Base | example |  | Not State | Unknown
Observation.component:therapy-assessed.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:therapy-assessed.​value[x] | Base | example |  | Not State | Unknown

#### Constraints

Id | Grade | Path(s) | Description | Expression
dom-2 | error | Observation | If the resource is contained in another resource, it SHALL NOT contain nested Resources | `contained.contained.empty()`
dom-3 | error | Observation | If 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-4 | error | Observation | If 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-5 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a security label | `contained.meta.security.empty()`
dom-6 | best practice | Observation | A resource should have narrative for robust management | `text.`div`.exists()`
ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children | `hasValue() or (children().count() > id.count())`
ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both | `extension.exists() != value.exists()`
obs-6 | error | Observation | dataAbsentReason SHALL only be present if Observation.value[x] is not present | `dataAbsentReason.empty() or value.empty()`
obs-7 | error | Observation | If 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()`

Differential View

This structure is derived from GenomicImplication

Name | Flags | Card. | Type | Description & Constraints Filter: Bindings Constraints Obligations
--- | --- | --- | --- | ---
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:workflow-relatedArtifact |  | 0..* | RelatedArtifact(5.2.0) | Documentation relevant to the 'parent' resource
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:workflow-relatedArtifact |  | 0..* | RelatedArtifact(5.2.0) | Documentation relevant to the 'parent' resource
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 Description: (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:workflow-relatedArtifact |  | 0..* | RelatedArtifact(5.2.0) | Documentation relevant to the 'parent' resource
extension: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 Description: (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:workflow-relatedArtifact |  | 0..* | RelatedArtifact(5.2.0) | Documentation relevant to the 'parent' resource
extension: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 Description: (example): Binding not yet defined
Documentation for this format

#### Terminology Bindings (Differential)

Path | Status | Usage | ValueSet | Version | Source
Observation.component:therapeutic-implication.​value[x] | Base | extensible | Genetic Therapeutic Implications | 📦4.0.0-cibuild | This IG
Observation.component:phenotypic-treatment-context.​value[x] | Base | example |  | Not State | Unknown
Observation.component:medication-assessed.​value[x] | Base | example |  | Not State | Unknown
Observation.component:therapy-assessed.​value[x] | Base | example |  | Not State | Unknown

Snapshot View

Name | Flags | Card. | Type | Description & Constraints Filter: Bindings Constraints Obligations
--- | --- | --- | --- | ---
Observation | C | 0..* | GenomicImplication | Therapeutic Implication Constraints: obs-6, obs-7
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 Bindings | Purpose
AllLanguages | Max Binding
text |  | 0..1 | Narrative | Text summary of the resource, for human interpretation This profile does not constrain the narrative in regard to content, language, or traceability to data elements
contained |  | 0..* | Resource | Contained, inline Resources
Slices for extension |  | 0..* | Extension | Extension Slice: Unordered, Open by value:url
extension: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.
extension:body-structure |  | 0..1 | Reference(BodyStructure) | Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite
extension: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 Constraints: obs-3
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(4.0.1) | Low Range, if relevant
high | C | 0..1 | SimpleQuantity(4.0.1) | 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 value: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
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
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
Slices for extension |  | 0..* | Extension | Extension Slice: Unordered, Open by value:url
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
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
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
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:knowledge-base | Σ | 0..1 | BackboneElement | Knowledge Base
id |  | 0..1 | string | Unique id for inter-element referencing
Slices for extension |  | 0..* | Extension | Extension Slice: Unordered, Open by value:url
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized
code | Σ | 1..1 | CodeableConcept | knowledge-base 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: knowledge-base
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: Knowledge Base Version Codes (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:annotation-pipeline | Σ | 0..1 | BackboneElement | Annotation Pipeline
id |  | 0..1 | string | Unique id for inter-element referencing
Slices for extension |  | 0..* | Extension | Extension Slice: Unordered, Open by value:url
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized
code | Σ | 1..1 | CodeableConcept | annotation-pipeline 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: annotation-pipeline
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
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
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
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
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
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 Description: (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
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
extension: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 Description: (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
extension:workflow-relatedArtifact |  | 0..* | RelatedArtifact | Documentation relevant to the 'parent' resource URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
extension: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 Description: (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
Documentation for this format

#### Terminology Bindings

Path | Status | Usage | ValueSet | Version | Source
Observation.language | Base | preferred | Common Languages | 📍4.0.1 | FHIR Std.
Observation.status | Base | required | ObservationStatus | 📍4.0.1 | FHIR Std.
Observation.category | Base | preferred | Observation Category Codes | 📍4.0.1 | FHIR Std.
Observation.category:labCategory | Base | preferred | Observation Category Codes | 📍4.0.1 | FHIR Std.
Observation.category:geCategory | Base | preferred | Observation Category Codes | 📍4.0.1 | FHIR Std.
Observation.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.bodySite | Base | example | SNOMED CT Body Structures | 📍4.0.1 | FHIR Std.
Observation.method | Base | example | Observation Methods | 📍4.0.1 | FHIR Std.
Observation.referenceRange.​type | Base | preferred | Observation Reference Range Meaning Codes | 📍4.0.1 | FHIR Std.
Observation.referenceRange.​appliesTo | Base | example | Observation Reference Range Applies To Codes | 📍4.0.1 | FHIR Std.
Observation.component.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component.​dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.component.​interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.component:conclusion-string.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:conclusion-string.​dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.component:conclusion-string.​interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.component:evidence-level.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:evidence-level.​value[x] | Base | example | Evidence Level Examples | 📦4.0.0-cibuild | This IG
Observation.component:evidence-level.​dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.component:evidence-level.​interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.component:clinical-significance.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:clinical-significance.​value[x] | Base | example | LOINC Answer Codes for LL4034-6 | ∅ | unknown?
Observation.component:clinical-significance.​dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.component:clinical-significance.​interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.component:knowledge-base.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:knowledge-base.​value[x] | Base | example | Knowledge Base Version Codes | 📦4.0.0-cibuild | This IG
Observation.component:knowledge-base.​dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.component:knowledge-base.​interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.component:annotation-pipeline.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:annotation-pipeline.​dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.component:annotation-pipeline.​interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.component:therapeutic-implication.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:therapeutic-implication.​value[x] | Base | extensible | Genetic Therapeutic Implications | 📦4.0.0-cibuild | This IG
Observation.component:therapeutic-implication.​dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.component:therapeutic-implication.​interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.component:phenotypic-treatment-context.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:phenotypic-treatment-context.​value[x] | Base | example |  | Not State | Unknown
Observation.component:phenotypic-treatment-context.​dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.component:phenotypic-treatment-context.​interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.component:medication-assessed.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:medication-assessed.​value[x] | Base | example |  | Not State | Unknown
Observation.component:medication-assessed.​dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.component:medication-assessed.​interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.component:therapy-assessed.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component:therapy-assessed.​value[x] | Base | example |  | Not State | Unknown
Observation.component:therapy-assessed.​dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.component:therapy-assessed.​interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.

#### Constraints

Id | Grade | Path(s) | Description | Expression
dom-2 | error | Observation | If the resource is contained in another resource, it SHALL NOT contain nested Resources | `contained.contained.empty()`
dom-3 | error | Observation | If 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-4 | error | Observation | If 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-5 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a security label | `contained.meta.security.empty()`
dom-6 | best practice | Observation | A resource should have narrative for robust management | `text.`div`.exists()`
ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children | `hasValue() or (children().count() > id.count())`
ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both | `extension.exists() != value.exists()`
obs-3 | error | Observation.referenceRange | Must have at least a low or a high or text | `low.exists() or high.exists() or text.exists()`
obs-6 | error | Observation | dataAbsentReason SHALL only be present if Observation.value[x] is not present | `dataAbsentReason.empty() or value.empty()`
obs-7 | error | Observation | If 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

Summary

Mandatory: 0 element(4 nested mandatory elements)

Extensions

This structure refers to these extensions:

- http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/medication-assessed-reference
- http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapy-assessed-reference

Maturity: 2

Other representations of profile: CSV, Excel, Schematron