Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

Resource Profile: Genomic Annotation

Official URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-annotation Version: 3.0.0
Active as of 2025-05-14 Computable Name: GenomicAnnotation

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

Profile for communicating miscellaneous genomic annotations that are neither Diagnostic Implications, Therapeutic Implications, nor Molecular Consequences.

Contents:

This section provides guidance for reporting of miscellaneous genomic annotations. Several types of annotations (e.g. population allele frequency) are important for clinical decision making, but are neither Therapeutic Implications, Diagnostic Implications, nor Molecular Consequences. The intent of this profile is to provide a 'catch-all' mechanism for communicating existing or evolving annotations that don't fit nicely into other specific implication profiles.

Where the HL7 Clinical Genomics committee has identified specific use cases (e.g. for population allele frequency), this profile contains elements and/or extensions, along with examples, that enable a semantically consistent representation. For other use cases, one can apply new observation components and/or extensions as needed. In no case should one use this profile for use cases met by the DxImplication, TxImplication, or MolecularConsequence profiles.

General usage notes

The genomic annotation profile can be used to annotate variants, haplotypes, genotypes, or molecular biomarkers with miscellaneous associations. For example, this profile can be used to assert the population allele frequency of a given variant.

Useful components include those that are broadly applicable to a number of annotations (e.g. component:knowledge-base), and those that are specific to a given type of annotation (e.g. component:population-allele-frequency):

  • component:evidence-level: The amount of observed support for the association between an implication and a variant / haplotype / genotype / biomarker. (See the discussion of evidence-level vs. clinical significance for additional guidance).
  • component:knowledge-base: 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.
  • component:annotation-pipeline: indicates the name of the data pipeline that processed the genomic data file.
  • component:population-allele-frequency: a specific type of annotation that indicates the prevalence of an allele in a population. This component can use the knowledgebase-ancestry-group extension to further characterize the applicable population.
  • component:conservation-score: a specific type of annotation that indicates how much a specific DNA sequence or protein residue has remained unchanged across the evolutionary history of different species. High conservation scores indicate that a region is likely under strong selective pressure, meaning mutations in that region are detrimental to the organism's survival and reproduction. This component can use the knowledgebase-ancestry-group extension to further characterize the applicable population.
  • extension:knowledgebase-ancestry-group: The knowledgebase-ancestry-group extension can be used to characterize the ancestry of the population from which a given annotation was derived. The extension is optional, and is considered unknown if not included. To indicate that an annotation is based on all assessed individuals, one can populate the extension with "ALL".

As with all implications, the explicit reference to the variant(s)/haplotype(s)/genotype(s)/molecular biomarker(s) being annotated must be provided in the Observation.derivedFrom field.

evidence-level versus clinical-significance

See Genomic Implication for guidance.

Differentiating AND vs OR

See Genomic Implication for guidance. Implication fields affected by this guidance include: derivedFrom, evidence-level, predicted-phenotype, genomic-risk-assessment.

Usage:

Formal Views of Profile Content

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

This structure is derived from GenomicImplication

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation 0..* GenomicImplication Genomic Annotation
... code 1..1 CodeableConcept genomic=annotation
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: genomic-annotation
... component 0..* BackboneElement Component results
.... Slices for extension Content/Rules for all slices
..... extension:knowledgebase-ancestry-group 0..1 CodeableConcept KnowledgebaseAncestryGroup
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/knowledgebase-ancestry-group
... Slices for component Content/Rules for all slices
.... component:population-allele-frequency 0..* BackboneElement Population Allele Frequency
..... Slices for extension Content/Rules for all slices
...... extension:workflow-relatedArtifactComponent 0..* RelatedArtifactComponent Related Artifact for Observation component
...... extension:knowledgebase-ancestry-group 0..1 CodeableConcept KnowledgebaseAncestryGroup
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/knowledgebase-ancestry-group
..... code 1..1 CodeableConcept population-allele-frequency
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: 92821-8
..... value[x] 1..1 Quantity Actual component result
.... component:conservation-score 0..* BackboneElement conservation score
..... Slices for extension Content/Rules for all slices
...... extension:workflow-relatedArtifactComponent 0..* RelatedArtifactComponent Related Artifact for Observation component
...... extension:knowledgebase-ancestry-group 0..1 CodeableConcept KnowledgebaseAncestryGroup
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/knowledgebase-ancestry-group
..... code 1..1 CodeableConcept conservation-score
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: conservation-score
..... value[x] 1..1 Quantity Actual component result

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation C 0..* GenomicImplication Genomic Annotation
dom-2: If the resource is contained in another resource, it SHALL NOT contain nested Resources
dom-3: 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
dom-4: If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated
dom-5: If a resource is contained in another resource, it SHALL NOT have a security label
dom-6: A resource should have narrative for robust management
obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present
obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
ele-1: All FHIR elements must have a @value or children
... 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.


ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
.... extension:body-structure 0..1 Reference(BodyStructure) Target anatomic location or structure
URL: http://hl7.org/fhir/StructureDefinition/bodySite
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
.... extension:workflow-relatedArtifact 0..* RelatedArtifact Documentation relevant to the 'parent' resource
URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
... 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.


ele-1: All FHIR elements must have a @value or children
.... category:labCategory 1..1 CodeableConcept Classification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


ele-1: All FHIR elements must have a @value or children
..... coding Σ 1..1 Coding Code defined by a terminology system
ele-1: All FHIR elements must have a @value or children

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


ele-1: All FHIR elements must have a @value or children
..... coding Σ 1..1 Coding Code defined by a terminology system
ele-1: All FHIR elements must have a @value or children

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


ele-1: All FHIR elements must have a @value or children
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: genomic-annotation
... Slices for derivedFrom Σ 1..* Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) Related measurements the observation is made from
Slice: Unordered, Open by profile:resolve()
ele-1: All FHIR elements must have a @value or children
.... derivedFrom:variant Σ 0..* Reference(Variant) Variant the implication is derived from
ele-1: All FHIR elements must have a @value or children
.... derivedFrom:genotype Σ 0..* Reference(Genotype) Genotype the implication is derived from
ele-1: All FHIR elements must have a @value or children
.... derivedFrom:haplotype Σ 0..* Reference(Haplotype) Haplotype the implication is derived from
ele-1: All FHIR elements must have a @value or children
.... derivedFrom:biomarker Σ 0..* Reference(Molecular Biomarker) MolecularBiomarker the implication is derived from
ele-1: All FHIR elements must have a @value or children
... Slices for component Σ 0..* BackboneElement Component results
Slice: Unordered, Open by value:code
ele-1: All FHIR elements must have a @value or children
.... component:All Slices Content/Rules for all slices
..... Slices for extension Content/Rules for all slices
...... extension:workflow-relatedArtifactComponent 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
...... extension:knowledgebase-ancestry-group 0..1 CodeableConcept KnowledgebaseAncestryGroup
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/knowledgebase-ancestry-group
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... code Σ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


ele-1: All FHIR elements must have a @value or children
.... component:conclusion-string Σ 0..1 BackboneElement Clinical Conclusion
ele-1: All FHIR elements must have a @value or children
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... code Σ 1..1 CodeableConcept conclusion-string
Binding: LOINCCodes (example): Codes identifying names of simple observations.


ele-1: All FHIR elements must have a @value or children
Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: conclusion-string
.... component:evidence-level Σ 0..* BackboneElement Level of Evidence
ele-1: All FHIR elements must have a @value or children
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... code Σ 1..1 CodeableConcept 93044-6
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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


ele-1: All FHIR elements must have a @value or children
.... component:clinical-significance Σ 0..1 BackboneElement Clinical significance
ele-1: All FHIR elements must have a @value or children
..... Slices for extension Content/Rules for all slices
...... extension:workflow-relatedArtifactComponent 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... code Σ 1..1 CodeableConcept 53037-8
Binding: LOINCCodes (example): Codes identifying names of simple observations.


ele-1: All FHIR elements must have a @value or children
Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 53037-8
..... value[x] Σ 1..1 CodeableConcept Pathogenic | Likely pathogenic | Uncertain significance | Likely benign | Benign
Binding: LOINC Answer List LL4034-6 (example)
ele-1: All FHIR elements must have a @value or children
.... component:knowledge-base Σ 0..1 BackboneElement Knowledge Base
ele-1: All FHIR elements must have a @value or children
..... Slices for extension Content/Rules for all slices
...... extension:workflow-relatedArtifactComponent 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... code Σ 1..1 CodeableConcept knowledge-base
Binding: LOINCCodes (example): Codes identifying names of simple observations.


ele-1: All FHIR elements must have a @value or children
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] Σ 1..1 CodeableConcept Actual component result
Binding: Knowledge Base Version Codes (example)
ele-1: All FHIR elements must have a @value or children
.... component:annotation-pipeline Σ 0..1 BackboneElement Annotation Pipeline
ele-1: All FHIR elements must have a @value or children
..... Slices for extension Content/Rules for all slices
...... extension:workflow-relatedArtifactComponent 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... code Σ 1..1 CodeableConcept annotation-pipeline
Binding: LOINCCodes (example): Codes identifying names of simple observations.


ele-1: All FHIR elements must have a @value or children
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] Σ 1..1 CodeableConcept Actual component result
ele-1: All FHIR elements must have a @value or children
.... component:population-allele-frequency Σ 0..* BackboneElement Population Allele Frequency
ele-1: All FHIR elements must have a @value or children
..... Slices for extension Content/Rules for all slices
...... extension:workflow-relatedArtifactComponent 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
...... extension:knowledgebase-ancestry-group 0..1 CodeableConcept KnowledgebaseAncestryGroup
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/knowledgebase-ancestry-group
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... code Σ 1..1 CodeableConcept population-allele-frequency
Binding: LOINCCodes (example): Codes identifying names of simple observations.


ele-1: All FHIR elements must have a @value or children
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: 92821-8
..... value[x] Σ 1..1 Quantity Actual component result
ele-1: All FHIR elements must have a @value or children
.... component:conservation-score Σ 0..* BackboneElement conservation score
ele-1: All FHIR elements must have a @value or children
..... Slices for extension Content/Rules for all slices
...... extension:workflow-relatedArtifactComponent 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
...... extension:knowledgebase-ancestry-group 0..1 CodeableConcept KnowledgebaseAncestryGroup
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/knowledgebase-ancestry-group
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... code Σ 1..1 CodeableConcept conservation-score
Binding: LOINCCodes (example): Codes identifying names of simple observations.


ele-1: All FHIR elements must have a @value or children
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: conservation-score
..... value[x] Σ 1..1 Quantity Actual component result
ele-1: All FHIR elements must have a @value or children

doco Documentation for this format

Terminology Bindings

PathConformanceValueSet / CodeURI
Observation.statusrequiredObservationStatus
http://hl7.org/fhir/ValueSet/observation-status|4.0.1
from the FHIR Standard
Observation.categorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.category:labCategorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.category:geCategorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.codeexamplePattern: genomic-annotation
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component.codeexampleLOINCCodes (a valid code from LOINC)
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:conclusion-string.codeexamplePattern: conclusion-string
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:evidence-level.codeexamplePattern: LOINC Code 93044-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:evidence-level.value[x]exampleEvidenceLevelExampleVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/evidence-level-example-vs
from this IG
Observation.component:clinical-significance.codeexamplePattern: LOINC Code 53037-8
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:clinical-significance.value[x]exampleLOINC LL4034-6
http://loinc.org/vs/LL4034-6
Observation.component:knowledge-base.codeexamplePattern: knowledge-base
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:knowledge-base.value[x]exampleKnowledgeBaseVersionVS (a valid code from Knowledge Base Codes)
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/knowledge-base-version-vs
from this IG
Observation.component:annotation-pipeline.codeexamplePattern: annotation-pipeline
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:population-allele-frequency.codeexamplePattern: LOINC Code 92821-8
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:conservation-score.codeexamplePattern: conservation-score
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard

Constraints

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

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


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

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


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


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

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


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

Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/v2-0074
...... version 0..1 string Version of the system - if relevant
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: GE
...... display 0..1 string Representation defined by the system
...... userSelected 0..1 boolean If this coding was chosen directly by the user
..... text Σ 0..1 string Plain text representation of the concept
... code Σ 1..1 CodeableConcept genomic=annotation
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: genomic-annotation
..... display 0..1 string Representation defined by the system
..... userSelected 0..1 boolean If this coding was chosen directly by the user
.... text 0..1 string Plain text representation of the concept
... subject Σ 0..1 Reference(Patient | Group | Device | Location) Who and/or what the observation is about
... focus Σ 0..* Reference(Resource) What the observation is about, when it is not about the subject of record
... encounter Σ 0..1 Reference(Encounter) Healthcare event during which this observation is made
... effective[x] Σ 0..1 Clinically relevant time/time-period for observation
.... effectiveDateTime dateTime
.... effectivePeriod Period
.... effectiveTiming Timing
.... effectiveInstant instant
... issued Σ 0..1 instant Date/Time this version was made available
... performer Σ 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson) Who is responsible for the observation
... dataAbsentReason C 0..1 CodeableConcept Why the result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


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

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

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

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


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

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

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


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


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

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


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


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

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

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


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


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

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


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


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

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


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


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

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


..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:population-allele-frequency Σ 0..* BackboneElement Population Allele Frequency
..... id 0..1 string Unique id for inter-element referencing
..... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
...... extension:workflow-relatedArtifactComponent 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
...... extension:knowledgebase-ancestry-group 0..1 CodeableConcept KnowledgebaseAncestryGroup
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/knowledgebase-ancestry-group
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept population-allele-frequency
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: 92821-8
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 Quantity Actual component result
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:conservation-score Σ 0..* BackboneElement conservation score
..... id 0..1 string Unique id for inter-element referencing
..... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
...... extension:workflow-relatedArtifactComponent 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
...... extension:knowledgebase-ancestry-group 0..1 CodeableConcept KnowledgebaseAncestryGroup
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/knowledgebase-ancestry-group
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept conservation-score
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: conservation-score
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 Quantity Actual component result
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


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

doco Documentation for this format

Terminology Bindings

PathConformanceValueSet / CodeURI
Observation.languagepreferredCommonLanguages
http://hl7.org/fhir/ValueSet/languages
from the FHIR Standard
Additional Bindings Purpose
AllLanguages Max Binding
Observation.statusrequiredObservationStatus
http://hl7.org/fhir/ValueSet/observation-status|4.0.1
from the FHIR Standard
Observation.categorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.category:labCategorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.category:geCategorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.codeexamplePattern: genomic-annotation
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.bodySiteexampleSNOMEDCTBodyStructures
http://hl7.org/fhir/ValueSet/body-site
from the FHIR Standard
Observation.methodexampleObservationMethods
http://hl7.org/fhir/ValueSet/observation-methods
from the FHIR Standard
Observation.referenceRange.typepreferredObservationReferenceRangeMeaningCodes
http://hl7.org/fhir/ValueSet/referencerange-meaning
from the FHIR Standard
Observation.referenceRange.appliesToexampleObservationReferenceRangeAppliesToCodes
http://hl7.org/fhir/ValueSet/referencerange-appliesto
from the FHIR Standard
Observation.component.codeexampleLOINCCodes (a valid code from LOINC)
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:conclusion-string.codeexamplePattern: conclusion-string
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:conclusion-string.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:conclusion-string.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:evidence-level.codeexamplePattern: LOINC Code 93044-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:evidence-level.value[x]exampleEvidenceLevelExampleVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/evidence-level-example-vs
from this IG
Observation.component:evidence-level.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:evidence-level.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:clinical-significance.codeexamplePattern: LOINC Code 53037-8
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:clinical-significance.value[x]exampleLOINC LL4034-6
http://loinc.org/vs/LL4034-6
Observation.component:clinical-significance.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:clinical-significance.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:knowledge-base.codeexamplePattern: knowledge-base
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:knowledge-base.value[x]exampleKnowledgeBaseVersionVS (a valid code from Knowledge Base Codes)
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/knowledge-base-version-vs
from this IG
Observation.component:knowledge-base.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:knowledge-base.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:annotation-pipeline.codeexamplePattern: annotation-pipeline
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:annotation-pipeline.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:annotation-pipeline.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:population-allele-frequency.codeexamplePattern: LOINC Code 92821-8
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:population-allele-frequency.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:population-allele-frequency.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:conservation-score.codeexamplePattern: conservation-score
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:conservation-score.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:conservation-score.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard

Constraints

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

This structure is derived from GenomicImplication

Summary

Mandatory: 0 element(2 nested mandatory elements)

Extensions

This structure refers to these extensions:

Differential View

This structure is derived from GenomicImplication

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation 0..* GenomicImplication Genomic Annotation
... code 1..1 CodeableConcept genomic=annotation
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: genomic-annotation
... component 0..* BackboneElement Component results
.... Slices for extension Content/Rules for all slices
..... extension:knowledgebase-ancestry-group 0..1 CodeableConcept KnowledgebaseAncestryGroup
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/knowledgebase-ancestry-group
... Slices for component Content/Rules for all slices
.... component:population-allele-frequency 0..* BackboneElement Population Allele Frequency
..... Slices for extension Content/Rules for all slices
...... extension:workflow-relatedArtifactComponent 0..* RelatedArtifactComponent Related Artifact for Observation component
...... extension:knowledgebase-ancestry-group 0..1 CodeableConcept KnowledgebaseAncestryGroup
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/knowledgebase-ancestry-group
..... code 1..1 CodeableConcept population-allele-frequency
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: 92821-8
..... value[x] 1..1 Quantity Actual component result
.... component:conservation-score 0..* BackboneElement conservation score
..... Slices for extension Content/Rules for all slices
...... extension:workflow-relatedArtifactComponent 0..* RelatedArtifactComponent Related Artifact for Observation component
...... extension:knowledgebase-ancestry-group 0..1 CodeableConcept KnowledgebaseAncestryGroup
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/knowledgebase-ancestry-group
..... code 1..1 CodeableConcept conservation-score
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: conservation-score
..... value[x] 1..1 Quantity Actual component result

doco Documentation for this format

Key Elements View

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation C 0..* GenomicImplication Genomic Annotation
dom-2: If the resource is contained in another resource, it SHALL NOT contain nested Resources
dom-3: 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
dom-4: If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated
dom-5: If a resource is contained in another resource, it SHALL NOT have a security label
dom-6: A resource should have narrative for robust management
obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present
obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
ele-1: All FHIR elements must have a @value or children
... 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.


ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
.... extension:body-structure 0..1 Reference(BodyStructure) Target anatomic location or structure
URL: http://hl7.org/fhir/StructureDefinition/bodySite
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
.... extension:workflow-relatedArtifact 0..* RelatedArtifact Documentation relevant to the 'parent' resource
URL: http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
... 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.


ele-1: All FHIR elements must have a @value or children
.... category:labCategory 1..1 CodeableConcept Classification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


ele-1: All FHIR elements must have a @value or children
..... coding Σ 1..1 Coding Code defined by a terminology system
ele-1: All FHIR elements must have a @value or children

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


ele-1: All FHIR elements must have a @value or children
..... coding Σ 1..1 Coding Code defined by a terminology system
ele-1: All FHIR elements must have a @value or children

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


ele-1: All FHIR elements must have a @value or children
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: genomic-annotation
... Slices for derivedFrom Σ 1..* Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) Related measurements the observation is made from
Slice: Unordered, Open by profile:resolve()
ele-1: All FHIR elements must have a @value or children
.... derivedFrom:variant Σ 0..* Reference(Variant) Variant the implication is derived from
ele-1: All FHIR elements must have a @value or children
.... derivedFrom:genotype Σ 0..* Reference(Genotype) Genotype the implication is derived from
ele-1: All FHIR elements must have a @value or children
.... derivedFrom:haplotype Σ 0..* Reference(Haplotype) Haplotype the implication is derived from
ele-1: All FHIR elements must have a @value or children
.... derivedFrom:biomarker Σ 0..* Reference(Molecular Biomarker) MolecularBiomarker the implication is derived from
ele-1: All FHIR elements must have a @value or children
... Slices for component Σ 0..* BackboneElement Component results
Slice: Unordered, Open by value:code
ele-1: All FHIR elements must have a @value or children
.... component:All Slices Content/Rules for all slices
..... Slices for extension Content/Rules for all slices
...... extension:workflow-relatedArtifactComponent 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
...... extension:knowledgebase-ancestry-group 0..1 CodeableConcept KnowledgebaseAncestryGroup
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/knowledgebase-ancestry-group
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... code Σ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


ele-1: All FHIR elements must have a @value or children
.... component:conclusion-string Σ 0..1 BackboneElement Clinical Conclusion
ele-1: All FHIR elements must have a @value or children
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... code Σ 1..1 CodeableConcept conclusion-string
Binding: LOINCCodes (example): Codes identifying names of simple observations.


ele-1: All FHIR elements must have a @value or children
Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: conclusion-string
.... component:evidence-level Σ 0..* BackboneElement Level of Evidence
ele-1: All FHIR elements must have a @value or children
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... code Σ 1..1 CodeableConcept 93044-6
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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


ele-1: All FHIR elements must have a @value or children
.... component:clinical-significance Σ 0..1 BackboneElement Clinical significance
ele-1: All FHIR elements must have a @value or children
..... Slices for extension Content/Rules for all slices
...... extension:workflow-relatedArtifactComponent 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... code Σ 1..1 CodeableConcept 53037-8
Binding: LOINCCodes (example): Codes identifying names of simple observations.


ele-1: All FHIR elements must have a @value or children
Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 53037-8
..... value[x] Σ 1..1 CodeableConcept Pathogenic | Likely pathogenic | Uncertain significance | Likely benign | Benign
Binding: LOINC Answer List LL4034-6 (example)
ele-1: All FHIR elements must have a @value or children
.... component:knowledge-base Σ 0..1 BackboneElement Knowledge Base
ele-1: All FHIR elements must have a @value or children
..... Slices for extension Content/Rules for all slices
...... extension:workflow-relatedArtifactComponent 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... code Σ 1..1 CodeableConcept knowledge-base
Binding: LOINCCodes (example): Codes identifying names of simple observations.


ele-1: All FHIR elements must have a @value or children
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] Σ 1..1 CodeableConcept Actual component result
Binding: Knowledge Base Version Codes (example)
ele-1: All FHIR elements must have a @value or children
.... component:annotation-pipeline Σ 0..1 BackboneElement Annotation Pipeline
ele-1: All FHIR elements must have a @value or children
..... Slices for extension Content/Rules for all slices
...... extension:workflow-relatedArtifactComponent 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... code Σ 1..1 CodeableConcept annotation-pipeline
Binding: LOINCCodes (example): Codes identifying names of simple observations.


ele-1: All FHIR elements must have a @value or children
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] Σ 1..1 CodeableConcept Actual component result
ele-1: All FHIR elements must have a @value or children
.... component:population-allele-frequency Σ 0..* BackboneElement Population Allele Frequency
ele-1: All FHIR elements must have a @value or children
..... Slices for extension Content/Rules for all slices
...... extension:workflow-relatedArtifactComponent 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
...... extension:knowledgebase-ancestry-group 0..1 CodeableConcept KnowledgebaseAncestryGroup
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/knowledgebase-ancestry-group
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... code Σ 1..1 CodeableConcept population-allele-frequency
Binding: LOINCCodes (example): Codes identifying names of simple observations.


ele-1: All FHIR elements must have a @value or children
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: 92821-8
..... value[x] Σ 1..1 Quantity Actual component result
ele-1: All FHIR elements must have a @value or children
.... component:conservation-score Σ 0..* BackboneElement conservation score
ele-1: All FHIR elements must have a @value or children
..... Slices for extension Content/Rules for all slices
...... extension:workflow-relatedArtifactComponent 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
...... extension:knowledgebase-ancestry-group 0..1 CodeableConcept KnowledgebaseAncestryGroup
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/knowledgebase-ancestry-group
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... code Σ 1..1 CodeableConcept conservation-score
Binding: LOINCCodes (example): Codes identifying names of simple observations.


ele-1: All FHIR elements must have a @value or children
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: conservation-score
..... value[x] Σ 1..1 Quantity Actual component result
ele-1: All FHIR elements must have a @value or children

doco Documentation for this format

Terminology Bindings

PathConformanceValueSet / CodeURI
Observation.statusrequiredObservationStatus
http://hl7.org/fhir/ValueSet/observation-status|4.0.1
from the FHIR Standard
Observation.categorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.category:labCategorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.category:geCategorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.codeexamplePattern: genomic-annotation
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component.codeexampleLOINCCodes (a valid code from LOINC)
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:conclusion-string.codeexamplePattern: conclusion-string
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:evidence-level.codeexamplePattern: LOINC Code 93044-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:evidence-level.value[x]exampleEvidenceLevelExampleVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/evidence-level-example-vs
from this IG
Observation.component:clinical-significance.codeexamplePattern: LOINC Code 53037-8
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:clinical-significance.value[x]exampleLOINC LL4034-6
http://loinc.org/vs/LL4034-6
Observation.component:knowledge-base.codeexamplePattern: knowledge-base
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:knowledge-base.value[x]exampleKnowledgeBaseVersionVS (a valid code from Knowledge Base Codes)
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/knowledge-base-version-vs
from this IG
Observation.component:annotation-pipeline.codeexamplePattern: annotation-pipeline
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:population-allele-frequency.codeexamplePattern: LOINC Code 92821-8
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:conservation-score.codeexamplePattern: conservation-score
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard

Constraints

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

Snapshot View

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation C 0..* GenomicImplication Genomic Annotation
obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present
obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
... id Σ 0..1 id Logical id of this artifact
... meta Σ 0..1 Meta Metadata about the resource
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... language 0..1 code Language of the resource content
Binding: CommonLanguages (preferred): A human language.

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


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

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


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


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

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


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

Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/v2-0074
...... version 0..1 string Version of the system - if relevant
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: GE
...... display 0..1 string Representation defined by the system
...... userSelected 0..1 boolean If this coding was chosen directly by the user
..... text Σ 0..1 string Plain text representation of the concept
... code Σ 1..1 CodeableConcept genomic=annotation
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: genomic-annotation
..... display 0..1 string Representation defined by the system
..... userSelected 0..1 boolean If this coding was chosen directly by the user
.... text 0..1 string Plain text representation of the concept
... subject Σ 0..1 Reference(Patient | Group | Device | Location) Who and/or what the observation is about
... focus Σ 0..* Reference(Resource) What the observation is about, when it is not about the subject of record
... encounter Σ 0..1 Reference(Encounter) Healthcare event during which this observation is made
... effective[x] Σ 0..1 Clinically relevant time/time-period for observation
.... effectiveDateTime dateTime
.... effectivePeriod Period
.... effectiveTiming Timing
.... effectiveInstant instant
... issued Σ 0..1 instant Date/Time this version was made available
... performer Σ 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson) Who is responsible for the observation
... dataAbsentReason C 0..1 CodeableConcept Why the result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


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

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

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

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


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

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

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


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


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

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


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


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

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

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


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


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

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


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


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

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


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


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

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


..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:population-allele-frequency Σ 0..* BackboneElement Population Allele Frequency
..... id 0..1 string Unique id for inter-element referencing
..... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
...... extension:workflow-relatedArtifactComponent 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
...... extension:knowledgebase-ancestry-group 0..1 CodeableConcept KnowledgebaseAncestryGroup
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/knowledgebase-ancestry-group
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept population-allele-frequency
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: 92821-8
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 Quantity Actual component result
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:conservation-score Σ 0..* BackboneElement conservation score
..... id 0..1 string Unique id for inter-element referencing
..... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
...... extension:workflow-relatedArtifactComponent 0..* RelatedArtifact Related Artifact for Observation component
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/workflow-relatedArtifactComponent
...... extension:knowledgebase-ancestry-group 0..1 CodeableConcept KnowledgebaseAncestryGroup
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/knowledgebase-ancestry-group
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept conservation-score
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: conservation-score
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 Quantity Actual component result
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


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

doco Documentation for this format

Terminology Bindings

PathConformanceValueSet / CodeURI
Observation.languagepreferredCommonLanguages
http://hl7.org/fhir/ValueSet/languages
from the FHIR Standard
Additional Bindings Purpose
AllLanguages Max Binding
Observation.statusrequiredObservationStatus
http://hl7.org/fhir/ValueSet/observation-status|4.0.1
from the FHIR Standard
Observation.categorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.category:labCategorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.category:geCategorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.codeexamplePattern: genomic-annotation
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.bodySiteexampleSNOMEDCTBodyStructures
http://hl7.org/fhir/ValueSet/body-site
from the FHIR Standard
Observation.methodexampleObservationMethods
http://hl7.org/fhir/ValueSet/observation-methods
from the FHIR Standard
Observation.referenceRange.typepreferredObservationReferenceRangeMeaningCodes
http://hl7.org/fhir/ValueSet/referencerange-meaning
from the FHIR Standard
Observation.referenceRange.appliesToexampleObservationReferenceRangeAppliesToCodes
http://hl7.org/fhir/ValueSet/referencerange-appliesto
from the FHIR Standard
Observation.component.codeexampleLOINCCodes (a valid code from LOINC)
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:conclusion-string.codeexamplePattern: conclusion-string
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:conclusion-string.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:conclusion-string.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:evidence-level.codeexamplePattern: LOINC Code 93044-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:evidence-level.value[x]exampleEvidenceLevelExampleVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/evidence-level-example-vs
from this IG
Observation.component:evidence-level.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:evidence-level.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:clinical-significance.codeexamplePattern: LOINC Code 53037-8
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:clinical-significance.value[x]exampleLOINC LL4034-6
http://loinc.org/vs/LL4034-6
Observation.component:clinical-significance.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:clinical-significance.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:knowledge-base.codeexamplePattern: knowledge-base
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:knowledge-base.value[x]exampleKnowledgeBaseVersionVS (a valid code from Knowledge Base Codes)
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/knowledge-base-version-vs
from this IG
Observation.component:knowledge-base.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:knowledge-base.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:annotation-pipeline.codeexamplePattern: annotation-pipeline
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:annotation-pipeline.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:annotation-pipeline.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:population-allele-frequency.codeexamplePattern: LOINC Code 92821-8
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:population-allele-frequency.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:population-allele-frequency.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:conservation-score.codeexamplePattern: conservation-score
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:conservation-score.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:conservation-score.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard

Constraints

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

This structure is derived from GenomicImplication

Summary

Mandatory: 0 element(2 nested mandatory elements)

Extensions

This structure refers to these extensions:

 

Other representations of profile: CSV, Excel, Schematron