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.

• 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, obs-8, obs-10, obs-11
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
contained		0..*	Resource	Contained, inline Resources
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	?!Σ	0..*	Extension	Extensions that cannot be ignored
status	?!Σ	1..1	code	registered | specimen-in-process | preliminary | final | amended | corrected | appended | cancelled | entered-in-error | unknown | cannot-be-obtained 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		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		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	ΣC	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
focus	?!Σ	0..*	Reference(Resource)	What the observation is about, when it is not about the subject of record
dataAbsentReason	C	0..1	CodeableConcept	Why the result value is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
Slices for derivedFrom	Σ	1..*	Reference(DocumentReference | ImagingStudy | ImagingSelection | QuestionnaireResponse | Observation | MolecularSequence | GenomicStudy)	Related resource from which the observation is made 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	ΣC	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	ΣC	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
component:conclusion-string	ΣC	0..1	BackboneElement	Clinical Conclusion
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	ΣC	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	ΣC	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	ΣC	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]	ΣC	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	ΣC	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	ΣC	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]	ΣC	1..1	CodeableConcept	Pathogenic | Likely pathogenic | Uncertain significance | Likely benign | Benign Binding: LOINC Answer List LL4034-6 (example)
component:knowledge-base	ΣC	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	ΣC	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]	ΣC	1..1	CodeableConcept	Actual component result Binding: Knowledge Base Version Codes (example)
component:annotation-pipeline	ΣC	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	ΣC	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]	ΣC	1..1	CodeableConcept	Actual component result
component:therapeutic-implication	ΣC	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	ΣC	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]	ΣC	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	ΣC	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	ΣC	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]	ΣC	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	ΣC	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	ΣC	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]	ΣC	1..1	CodeableConcept	Medication code Binding Description: (example): Binding not yet defined (RxNorm or similar)
component:therapy-assessed	ΣC	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	ΣC	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]	ΣC	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	Observation Status	📍6.0.0-ballot3	FHIR Std.
Observation.category	Base	preferred	Observation Category Codes	📍6.0.0-ballot3	FHIR Std.
Observation.category:labCategory	Base	preferred	Observation Category Codes	📍6.0.0-ballot3	FHIR Std.
Observation.category:geCategory	Base	preferred	Observation Category Codes	📍6.0.0-ballot3	FHIR Std.
Observation.code	Base	example	LOINC Codes	📍6.0.0-ballot3	FHIR Std.
Observation.dataAbsentReason	Base	extensible	Data Absent Reason	📍6.0.0-ballot3	FHIR Std.
Observation.component.​code	Base	example	LOINC Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:conclusion-string.​code	Base	example	LOINC Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:evidence-level.​code	Base	example	LOINC Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:evidence-level.​value[x]	Base	example	Evidence Level Examples	📦4.0.0-ballot	This IG
Observation.component:clinical-significance.​code	Base	example	LOINC Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:clinical-significance.​value[x]	Base	example	​ LOINC Answer Codes for LL4034-6 (missing link)	📦	unknown?
Observation.component:knowledge-base.​code	Base	example	LOINC Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:knowledge-base.​value[x]	Base	example	Knowledge Base Version Codes	📦4.0.0-ballot	This IG
Observation.component:annotation-pipeline.​code	Base	example	LOINC Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:therapeutic-implication.​code	Base	example	LOINC Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:therapeutic-implication.​value[x]	Base	extensible	Genetic Therapeutic Implications	📦4.0.0-ballot	This IG
Observation.component:phenotypic-treatment-context.​code	Base	example	LOINC Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:phenotypic-treatment-context.​value[x]	Base	example		Not Stated	Unknown
Observation.component:medication-assessed.​code	Base	example	LOINC Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:medication-assessed.​value[x]	Base	example		Not Stated	Unknown
Observation.component:therapy-assessed.​code	Base	example	LOINC Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:therapy-assessed.​value[x]	Base	example		Not Stated	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.trace('id') in %resource.descendants().select(reference | as(uri))) or descendants().where(reference='#' | as(uri)='#').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	Observation.dataAbsentReason SHALL only be present if Observation.value[x] is not present	dataAbsentReason.empty() or value.empty()
obs-7	error	Observation	If Observation.component.code is the same as Observation.code, then Observation.value SHALL NOT be present (the Observation.component.value[x] holds the value).	value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty()
obs-8	error	Observation	bodyStructure SHALL only be present if Observation.bodySite is not present	bodySite.exists() implies bodyStructure.empty()
obs-10	error	Observation	Observation.component.dataAbsentReason SHALL only be present if Observation.component.value[x] is not present	component.empty() or component.where(dataAbsentReason.exists()).all(value.empty())
obs-11	error	Observation	if organizer exists and organizer = true, then value[x], dataAbsentReason and component SHALL NOT be present	(organizer.exists() and organizer.allTrue()) implies (value.empty() and dataAbsentReason.empty() and component.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	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	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	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	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-ballot	This IG
Observation.component:phenotypic-treatment-context.​value[x]	Base	example		Not Stated	Unknown
Observation.component:medication-assessed.​value[x]	Base	example		Not Stated	Unknown
Observation.component:therapy-assessed.​value[x]	Base	example		Not Stated	Unknown

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation	C	0..*	GenomicImplication	Therapeutic Implication Constraints: obs-6, obs-7, obs-8, obs-10, obs-11
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: AllLanguages (required): IETF language tag for a human language Additional Bindings Purpose CommonLanguages Starter
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	?!Σ	0..*	Extension	Extensions that cannot be ignored
identifier	Σ	0..*	Identifier	Business Identifier for observation
instantiates[x]	Σ	0..1	canonical(ObservationDefinition), Reference(ObservationDefinition)	Instantiates FHIR ObservationDefinition
basedOn	Σ	0..*	Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)	Fulfills plan, proposal or order
triggeredBy		0..*	BackboneElement	Triggering observation(s)
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
observation	Σ	1..1	Reference(Observation)	Triggering observation
type	Σ	1..1	code	reflex | repeat | re-run Binding: TriggeredBytype (required): The type of TriggeredBy Observation.
reason		0..1	string	Reason that the observation was triggered
partOf	Σ	0..*	Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy | GenomicStudy)	Part of referenced event
status	?!Σ	1..1	code	registered | specimen-in-process | preliminary | final | amended | corrected | appended | cancelled | entered-in-error | unknown | cannot-be-obtained 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	id	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding		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		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	id	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding		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		0..1	string	Plain text representation of the concept
code	ΣC	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 | Organization | Procedure | Practitioner | Medication | Substance | BiologicallyDerivedProduct | NutritionProduct)	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
organizer	ΣC	0..1	boolean	This observation organizes/groups a set of sub-observations
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 | HealthcareService)	Who is responsible for the observation
dataAbsentReason	C	0..1	CodeableConcept	Why the result value 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	C	0..1	CodeableConcept	Observed body part Binding: SNOMEDCTBodyStructures (example): SNOMED CT Body site concepts
bodyStructure	C	0..1	Reference(BodyStructure)	Observed body structure
method		0..1	CodeableConcept	How it was done Binding: ObservationMethods (example): Methods for simple observations.
specimen	C	0..1	Reference(Specimen | Group)	Specimen used for this observation Constraints: obs-9
device		0..1	Reference(Device | DeviceMetric)	A reference to the device that generates the measurements or the device settings for the 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(6.0.0-ballot3)	Low Range, if relevant
high	C	0..1	SimpleQuantity(6.0.0-ballot3)	High Range, if relevant
normalValue		0..1	CodeableConcept	Normal value, if relevant Binding: ObservationReferenceRangeNormalValueCodes (extensible): Codes identifying the normal value of the observation.
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	C	0..1	markdown	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 | ImagingSelection | QuestionnaireResponse | Observation | MolecularSequence | GenomicStudy)	Related resource from which the observation is made 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	ΣC	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	ΣC	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
value[x]	ΣC	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
valueAttachment			Attachment
valueReference			Reference(MolecularSequence)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result value 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 value
component:conclusion-string	ΣC	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	ΣC	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]	ΣC	0..1	string	Summary conclusion (interpretation/impression)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result value 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 value
component:evidence-level	ΣC	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	ΣC	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]	ΣC	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 value 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 value
component:clinical-significance	ΣC	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	ΣC	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]	ΣC	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 value 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 value
component:knowledge-base	ΣC	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	ΣC	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]	ΣC	1..1	CodeableConcept	Actual component result Binding: Knowledge Base Version Codes (example)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result value 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 value
component:annotation-pipeline	ΣC	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	ΣC	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]	ΣC	1..1	CodeableConcept	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result value 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 value
component:therapeutic-implication	ΣC	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	ΣC	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]	ΣC	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 value 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 value
component:phenotypic-treatment-context	ΣC	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	ΣC	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]	ΣC	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 value 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 value
component:medication-assessed	ΣC	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	ΣC	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]	ΣC	1..1	CodeableConcept	Medication code Binding Description: (example): Binding not yet defined (RxNorm or similar)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result value 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 value
component:therapy-assessed	ΣC	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	ΣC	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]	ΣC	1..1	CodeableConcept	Actual component result Binding Description: (example): Binding not yet defined
dataAbsentReason	C	0..1	CodeableConcept	Why the component result value 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 value
Documentation for this format

Terminology Bindings

Path	Status	Usage	ValueSet	Version	Source
Observation.language	Base	required	All Languages	📍6.0.0-ballot3	FHIR Std.
Observation.triggeredBy.​type	Base	required	triggered Bytype	📍6.0.0-ballot3	FHIR Std.
Observation.status	Base	required	Observation Status	📍6.0.0-ballot3	FHIR Std.
Observation.category	Base	preferred	Observation Category Codes	📍6.0.0-ballot3	FHIR Std.
Observation.category:labCategory	Base	preferred	Observation Category Codes	📍6.0.0-ballot3	FHIR Std.
Observation.category:geCategory	Base	preferred	Observation Category Codes	📍6.0.0-ballot3	FHIR Std.
Observation.code	Base	example	LOINC Codes	📍6.0.0-ballot3	FHIR Std.
Observation.dataAbsentReason	Base	extensible	Data Absent Reason	📍6.0.0-ballot3	FHIR Std.
Observation.interpretation	Base	extensible	Observation Interpretation Codes	📍6.0.0-ballot3	FHIR Std.
Observation.bodySite	Base	example	SNOMED CT Body Structures	📍6.0.0-ballot3	FHIR Std.
Observation.method	Base	example	Observation Methods	📍6.0.0-ballot3	FHIR Std.
Observation.referenceRange.​normalValue	Base	extensible	Observation Reference Range Normal Value Codes	📍6.0.0-ballot3	FHIR Std.
Observation.referenceRange.​type	Base	preferred	Observation Reference Range Meaning Codes	📍6.0.0-ballot3	FHIR Std.
Observation.referenceRange.​appliesTo	Base	example	Observation Reference Range Applies To Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component.​code	Base	example	LOINC Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component.​dataAbsentReason	Base	extensible	Data Absent Reason	📍6.0.0-ballot3	FHIR Std.
Observation.component.​interpretation	Base	extensible	Observation Interpretation Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:conclusion-string.​code	Base	example	LOINC Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:conclusion-string.​dataAbsentReason	Base	extensible	Data Absent Reason	📍6.0.0-ballot3	FHIR Std.
Observation.component:conclusion-string.​interpretation	Base	extensible	Observation Interpretation Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:evidence-level.​code	Base	example	LOINC Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:evidence-level.​value[x]	Base	example	Evidence Level Examples	📦4.0.0-ballot	This IG
Observation.component:evidence-level.​dataAbsentReason	Base	extensible	Data Absent Reason	📍6.0.0-ballot3	FHIR Std.
Observation.component:evidence-level.​interpretation	Base	extensible	Observation Interpretation Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:clinical-significance.​code	Base	example	LOINC Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:clinical-significance.​value[x]	Base	example	​ LOINC Answer Codes for LL4034-6 (missing link)	📦	unknown?
Observation.component:clinical-significance.​dataAbsentReason	Base	extensible	Data Absent Reason	📍6.0.0-ballot3	FHIR Std.
Observation.component:clinical-significance.​interpretation	Base	extensible	Observation Interpretation Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:knowledge-base.​code	Base	example	LOINC Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:knowledge-base.​value[x]	Base	example	Knowledge Base Version Codes	📦4.0.0-ballot	This IG
Observation.component:knowledge-base.​dataAbsentReason	Base	extensible	Data Absent Reason	📍6.0.0-ballot3	FHIR Std.
Observation.component:knowledge-base.​interpretation	Base	extensible	Observation Interpretation Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:annotation-pipeline.​code	Base	example	LOINC Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:annotation-pipeline.​dataAbsentReason	Base	extensible	Data Absent Reason	📍6.0.0-ballot3	FHIR Std.
Observation.component:annotation-pipeline.​interpretation	Base	extensible	Observation Interpretation Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:therapeutic-implication.​code	Base	example	LOINC Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:therapeutic-implication.​value[x]	Base	extensible	Genetic Therapeutic Implications	📦4.0.0-ballot	This IG
Observation.component:therapeutic-implication.​dataAbsentReason	Base	extensible	Data Absent Reason	📍6.0.0-ballot3	FHIR Std.
Observation.component:therapeutic-implication.​interpretation	Base	extensible	Observation Interpretation Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:phenotypic-treatment-context.​code	Base	example	LOINC Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:phenotypic-treatment-context.​value[x]	Base	example		Not Stated	Unknown
Observation.component:phenotypic-treatment-context.​dataAbsentReason	Base	extensible	Data Absent Reason	📍6.0.0-ballot3	FHIR Std.
Observation.component:phenotypic-treatment-context.​interpretation	Base	extensible	Observation Interpretation Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:medication-assessed.​code	Base	example	LOINC Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:medication-assessed.​value[x]	Base	example		Not Stated	Unknown
Observation.component:medication-assessed.​dataAbsentReason	Base	extensible	Data Absent Reason	📍6.0.0-ballot3	FHIR Std.
Observation.component:medication-assessed.​interpretation	Base	extensible	Observation Interpretation Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:therapy-assessed.​code	Base	example	LOINC Codes	📍6.0.0-ballot3	FHIR Std.
Observation.component:therapy-assessed.​value[x]	Base	example		Not Stated	Unknown
Observation.component:therapy-assessed.​dataAbsentReason	Base	extensible	Data Absent Reason	📍6.0.0-ballot3	FHIR Std.
Observation.component:therapy-assessed.​interpretation	Base	extensible	Observation Interpretation Codes	📍6.0.0-ballot3	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.trace('id') in %resource.descendants().select(reference | as(uri))) or descendants().where(reference='#' | as(uri)='#').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	Observation.dataAbsentReason SHALL only be present if Observation.value[x] is not present	dataAbsentReason.empty() or value.empty()
obs-7	error	Observation	If Observation.component.code is the same as Observation.code, then Observation.value SHALL NOT be present (the Observation.component.value[x] holds the value).	value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty()
obs-8	error	Observation	bodyStructure SHALL only be present if Observation.bodySite is not present	bodySite.exists() implies bodyStructure.empty()
obs-9	error	Observation.specimen	If Observation.specimen is a reference to Group, the group can only have specimens	(reference.resolve().exists() and reference.resolve() is Group) implies reference.resolve().member.entity.resolve().all($this is Specimen)
obs-10	error	Observation	Observation.component.dataAbsentReason SHALL only be present if Observation.component.value[x] is not present	component.empty() or component.where(dataAbsentReason.exists()).all(value.empty())
obs-11	error	Observation	if organizer exists and organizer = true, then value[x], dataAbsentReason and component SHALL NOT be present	(organizer.exists() and organizer.allTrue()) implies (value.empty() and dataAbsentReason.empty() and component.empty())