The Genomic Implication profile is an abstract profile for therapeutic and diagnostic implications and molecular consequences. Implications are relevant information which are derived from the presence of a haplotype, genotype, variant or molecular biomarker. This portion of the implementation guide relies on the content in the General Genomic Reporting and Variant Reporting portions of this implementation guide.

At the heart of many genomic reports are findings (variants, haplotypes, genotypes, biomarkers) and annotations derived from those findings (diagnostic implications, therapeutic implications, predicted molecular consequences, other genomic annotations), as shown in the following figure:

This profile defines a common set of elements for other Implications:

• derivedFrom is a required field that provides an explicit reference from an implication to the variant(s) / haplotype(s) / genotype(s) / molecular biomarker(s) from which the implication is derived.
• workflow-relatedArtifact (base extension) (component) supports conveying references to citations, supporting documentation and other information relevant to the asserted implication, such as documentation which applies to the full implication Observation or to the component level information specific to the component's code and value (such as documentation supporting a specific clinical significance or evidence level value).
• evidence-level (component) indicates the strength of the evidence behind the asserted implication.
• clinical-significance (component) indicates the clinical impact of an implication.
• knowledge-base (component) indicates the database from which the annotation is derived. Annotations are obtained from different knowledge bases (e.g. Clinvar, gnomAD, 1000 Genomes). Knowledge bases continue to evolve, with new ones being developed, and existing ones being updated/revised.
• annotation-pipeline (component) indicates the name of the data pipeline that processed the genomic data file.

evidence-level versus clinical-significance

evidence-level: The amount of observed support for the association between an implication and a variant / haplotype / genotype / biomarker. There are dozens if not hundreds of evidence-level value sets, generally providing an ordinal range of codes from low evidence (e.g. 'predicted', 'case report', '1-star') to high evidence (e.g. 'professional society guideline', 'expert panel consensus', '1A').

clinical-significance: The clinical impact of an implication on a person's health. There are dozens if not hundreds of clinical-significance value sets, generally providing an ordinal range of codes from low significance (e.g. 'benign') to high significance (e.g. 'pathogenic', 'oncogenic','predictive of drug response').

While evidence and significance are orthogonal concepts, some codes conflate the two (e.g. 'expert panel consensus of strong efficacy', 'strong evidence refutes the clinical utility of this drug', 'case report evidence of pathogenicity'). In general, using discrete evidence and significance codes allow for a more precise characterization of an implication. Where an implementation is using a conflated code, we recommend communicating that code in the evidence-level field.

Examples of other code sets for evidence-level and clinical-significance:

• ACMG_Level of evidence
• Oncokb levels
• US FDA levels
• AMP/ASCO/CAP levels
• Classification on ClinVar submitted records
• Bioportal clinical variant interpretation
• CIViC Evidence
• CIViC Significance

Differentiating AND vs OR

There are several cases where it is necessary to differentiate 'AND' conditions (e.g. both drug X AND drug Y, in combination, are indicated in the presence of a variant) vs. 'OR' conditions (e.g., either drug X OR drug Y are indicated in the presence of a variant).

This situation is not unique to genomic implications, and arises elsewhere within FHIR (e.g. FHIR Search) and outside of FHIR (e.g., ClinVar submission API condition set). To be consistent with other precedents:

Where implications have fields with cardinality > 1, the inclusion of multiple values within a field SHALL indicate an 'AND' condition. An 'OR' condition SHALL be represented by multiple observation instances.

Implication fields affected by this guidance include:

Molecular consequences: derivedFrom, evidence-level, feature-consequence.

Therapeutic implications: derivedFrom, evidence-level, therapeutic-implication, phenotypic-treatment-context, medication-assessed, therapy-assessed.

Diagnostic implications: derivedFrom, evidence-level, predicted-phenotype, genomic-risk-assessment.

Genomic annotations: derivedFrom, evidence-level, population-allele-frequency, conservation-score.

Here are examples of these rules with DiagnosticImplication (but the principles would apply to any Implication):

Example 1: Variant X is pathogenic for Disease Y AND Disease Z (in combination)

Implementation: One DiagnosticImplication with two predicted-phenotype instances for Disease Y and Disease Z that is derivedFrom one Variant for VariantX

Example 2: Variant X might be pathogenic for Disease Y alone, or Disease Z alone

Implementation: Two DiagnosticImplications, one with predicted-phenotype for DiseaseY, second with predicted-phenotype for DiseaseZ, and both are derivedFrom the same Variant for VariantX

Example 3: Variant X AND Variant Y (in combination) are pathogenic for Disease Z

Implementation: One DiagnosticImplications with predicted-phenotype for DiseaseZ that is derivedFrom the two Variants (VariantX and VariantY)

Example 4: Variant X OR Variant Y might be pathogenic for Disease Z

Implementation: Two DiagnosticImplications, each with predicted-phenotype for DiseaseZ, one that is derivedFrom a Variant for VariantX, the other that is derivedFrom a Variant for VariantY

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

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation	C	0..*	GenomicBase	This is an abstract profile. Child profiles: DiagnosticImplication, GenomicAnnotation, MolecularConsequence, TherapeuticImplication Measurements and simple assertions 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	Type of observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
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		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.
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
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.

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 GenomicBase

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation		0..*	GenomicBase	This is an abstract profile. Child profiles: DiagnosticImplication, GenomicAnnotation, MolecularConsequence, TherapeuticImplication Measurements and simple assertions
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
value[x]		0..0
derivedFrom		1..*	Reference(DocumentReference | ImagingStudy | ImagingSelection | QuestionnaireResponse | Observation | MolecularSequence | GenomicStudy)	Related resource from which the observation is made
Slices for derivedFrom				Content/Rules for all slices
derivedFrom:variant		0..*	Reference(Variant)	Variant the implication is derived from
derivedFrom:genotype		0..*	Reference(Genotype)	Genotype the implication is derived from
derivedFrom:haplotype		0..*	Reference(Haplotype)	Haplotype the implication is derived from
derivedFrom:biomarker		0..*	Reference(Molecular Biomarker)	MolecularBiomarker the implication is derived from
component		0..*	BackboneElement	Component results
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
Slices for component				Content/Rules for all slices
component:evidence-level		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
code		1..1	CodeableConcept	93044-6 Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 93044-6
value[x]		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		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
code		1..1	CodeableConcept	53037-8 Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 53037-8
value[x]		1..1	CodeableConcept	Pathogenic | Likely pathogenic | Uncertain significance | Likely benign | Benign Binding: LOINC Answer List LL4034-6 (example)
component:knowledge-base		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
code		1..1	CodeableConcept	knowledge-base 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: knowledge-base
value[x]		1..1	CodeableConcept	Actual component result Binding: Knowledge Base Version Codes (example)
component:annotation-pipeline		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
code		1..1	CodeableConcept	annotation-pipeline 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: annotation-pipeline
value[x]		1..1	CodeableConcept	Actual component result
Documentation for this format

Terminology Bindings (Differential)

Path	Status	Usage	ValueSet	Version	Source
Observation.component:evidence-level.​value[x]	Base	example	Evidence Level Examples	📦4.0.0-ballot	This IG
Observation.component:clinical-significance.​value[x]	Base	example	​ LOINC Answer Codes for LL4034-6 (missing link)	📦	unknown?
Observation.component:knowledge-base.​value[x]	Base	example	Knowledge Base Version Codes	📦4.0.0-ballot	This IG

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation	C	0..*	GenomicBase	This is an abstract profile. Child profiles: DiagnosticImplication, GenomicAnnotation, MolecularConsequence, TherapeuticImplication Measurements and simple assertions 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	Type of observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
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
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.

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())

Key Elements View

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation	C	0..*	GenomicBase	This is an abstract profile. Child profiles: DiagnosticImplication, GenomicAnnotation, MolecularConsequence, TherapeuticImplication Measurements and simple assertions 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	Type of observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
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		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.
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
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.

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())

Differential View

This structure is derived from GenomicBase

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation		0..*	GenomicBase	This is an abstract profile. Child profiles: DiagnosticImplication, GenomicAnnotation, MolecularConsequence, TherapeuticImplication Measurements and simple assertions
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
value[x]		0..0
derivedFrom		1..*	Reference(DocumentReference | ImagingStudy | ImagingSelection | QuestionnaireResponse | Observation | MolecularSequence | GenomicStudy)	Related resource from which the observation is made
Slices for derivedFrom				Content/Rules for all slices
derivedFrom:variant		0..*	Reference(Variant)	Variant the implication is derived from
derivedFrom:genotype		0..*	Reference(Genotype)	Genotype the implication is derived from
derivedFrom:haplotype		0..*	Reference(Haplotype)	Haplotype the implication is derived from
derivedFrom:biomarker		0..*	Reference(Molecular Biomarker)	MolecularBiomarker the implication is derived from
component		0..*	BackboneElement	Component results
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
Slices for component				Content/Rules for all slices
component:evidence-level		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
code		1..1	CodeableConcept	93044-6 Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 93044-6
value[x]		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		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
code		1..1	CodeableConcept	53037-8 Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (Complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 53037-8
value[x]		1..1	CodeableConcept	Pathogenic | Likely pathogenic | Uncertain significance | Likely benign | Benign Binding: LOINC Answer List LL4034-6 (example)
component:knowledge-base		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
code		1..1	CodeableConcept	knowledge-base 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: knowledge-base
value[x]		1..1	CodeableConcept	Actual component result Binding: Knowledge Base Version Codes (example)
component:annotation-pipeline		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
code		1..1	CodeableConcept	annotation-pipeline 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: annotation-pipeline
value[x]		1..1	CodeableConcept	Actual component result
Documentation for this format

Terminology Bindings (Differential)

Path	Status	Usage	ValueSet	Version	Source
Observation.component:evidence-level.​value[x]	Base	example	Evidence Level Examples	📦4.0.0-ballot	This IG
Observation.component:clinical-significance.​value[x]	Base	example	​ LOINC Answer Codes for LL4034-6 (missing link)	📦	unknown?
Observation.component:knowledge-base.​value[x]	Base	example	Knowledge Base Version Codes	📦4.0.0-ballot	This IG

Snapshot View

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation	C	0..*	GenomicBase	This is an abstract profile. Child profiles: DiagnosticImplication, GenomicAnnotation, MolecularConsequence, TherapeuticImplication Measurements and simple assertions 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	Type of observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
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
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.

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())

This structure is derived from GenomicBase

Summary

Mandatory: 1 element(4 nested mandatory elements)
Prohibited: 1 element

Structures

This structure refers to these other structures:

• Variant (http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant)
• Genotype (http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype)
• Haplotype (http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype)
• Molecular Biomarker (http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-biomarker)

Extensions

This structure refers to these extensions:

• http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact

Maturity: 2