Phenomics Exchange for Research and Diagnostics
0.1.0 - ci-build International flag

Phenomics Exchange for Research and Diagnostics, published by HL7 International / Clinical Interoperability Council. This guide is not an authorized publication; it is the continuous build for version 0.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/phenomics-exchange-ig/ and changes regularly. See the Directory of published versions

Resource Profile: Biosample

Official URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/Biosample Version: 0.1.0
Draft as of 2021-06-08 Computable Name: Biosample

Copyright/Legal: Global Alliance for Genomics and Health

A unit of biological material from which the substrate molecules (e.g. genomic DNA, RNA, proteins) for molecular analyses (e.g. sequencing, array hybridisation, mass-spectrometry) are extracted.

Introduction

In the phenopacket-schema, an Individual can have zero to many Biosamples. A Biosample refers to a unit of biological material from which the substrate molecules (e.g. genomic DNA, RNA, proteins) for molecular analyses (e.g. sequencing, array hybridisation, mass-spectrometry) are extracted. Examples would be a tissue biopsy, a single cell from a culture for single cell genome sequencing or a protein fraction from a gradient centrifugation. Several instances (e.g. technical replicates) or types of experiments (e.g. genomic array as well as RNA-seq experiments) may refer to the same Biosample.

The FHIR Specimen and the GA4GH phenopacket-schema Biosample.

  1. In the GA4GH phenopacket, the id element is a required string identifier. This corresponds to the identifier element of Specimen (this profile specifies this field to be required).

  2. In the GA4GH phenopacket, the individual_id is a string identifier corresponding to the patient from whom the Biosample is derived. Software to transform FHIR code to GA4GH phenopacket code should generally extract an individual id from the subject field of the Specimen. This IG constraints subject to be a Patient. The identifier field from the Patient object should be used for the individual_id. If the former is not available, implementers can omit the individual_id or set it to another value that is appropriate for the application.

  3. In the GA4GH phenopacket, the derived_from_id is a string identifier of the biosample from which the current biosample was derived. For instance, a given patient may have one Biosample with id example.1 representing a biopsy. We can choose to represent an RNA sample derived from the biopsy as a separate Biosample object and would set derived_from_id = example.1`. This feature is intended to serve the needs of biobanks and we choose not to represent it explicitly in the FHIR IG.

  4. In the GA4GH phenopacket, the description is a string with arbitrary text. This string should be initialized with the contents of the note element of the Specimen.

  5. In the GA4GH phenopacket, the sampled_tissue is an optional OntologyClass that denotes the tissue from which the sample was taken. It should be initialized from the collection.bodySite field, if available.

  6. In the GA4GH phenopacket, the sample_type is an optional OntologyClass that denotes the type of material, e.g., RNA, DNA, Cultured cells. If available, this field should be initialized based on infomration from the collection and processing fields of the FHIR Specimen.

  7. In the GA4GH phenopacket, phenotypic_features and measurement_value represent PhenotypeFeatures or Measurements that pertain specifically to the Biosample. In FHIR, we represent this using the corresponding fields of the upper level Phenopacket but require these to reference the id of this Biospecimen. Software for transforming FHIR to GA4GH Phenopackets should place such PhenotypeFeatures or Measurements in the Biosample.

Usage:

Formal Views of Profile Content

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

This structure is derived from Specimen

NameFlagsCard.TypeDescription & Constraintsdoco
.. Specimen 0..* Specimen Sample for analysis
... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
.... Taxonomy S 0..1 CodeableConcept Taxonomy
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/Taxonomy
Binding: Taxonomy (required)
.... HistologicalDiagnosis S 0..* CodeableConcept Histological Diagnosis
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/HistologicalDiagnosis
Binding: HistologicalDiagnosis (example)
.... TumorProgression S 0..1 CodeableConcept Tumor Progression
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/TumorProgression
Binding: Tumor Progression (example)
.... TumorGrade S 0..* CodeableConcept Tumor Grade
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/TumorGrade
Binding: Tumor Grade (example)
.... PathologicalStage S 0..* CodeableConcept Pathological Tumor Stage
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/PathologicalStage
Binding: Tumor Stage (example)
.... PathologicalTnmFinding S 0..* CodeableConcept Pathological TNM Finding
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/PathologicalTnmFinding
Binding: Tumor Stage (example)
.... DiagnosticMarker S 0..* CodeableConcept Diagnostic Marker
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/DiagnosticMarker
Binding: Diagnostic Marker (example)
.... MaterialSample S 0..1 CodeableConcept Material Sample
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/MaterialSample
... identifier S 1..1 Identifier Corresponds to id (GA4GH), i.e., a specimen identifier
... type S 0..1 CodeableConcept Corresponds to sample_type (GA4GH)
... collection
.... collected[x] S 0..1 dateTime, Period Corresponds to time_of_collection (GA4GH)
.... bodySite S 0..1 CodeableConcept Anatomical collection site. Corresponds to sampled_tissue (GA4GH)
... processing
.... procedure S 0..1 CodeableConcept Corresponds to procedure (GA4GH)
... note S 0..* Annotation Corresponds to description (GA4GH)

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraintsdoco
.. Specimen 0..* Specimen Sample for analysis
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
.... Taxonomy S 0..1 CodeableConcept Taxonomy
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/Taxonomy
Binding: Taxonomy (required)
.... HistologicalDiagnosis S 0..* CodeableConcept Histological Diagnosis
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/HistologicalDiagnosis
Binding: HistologicalDiagnosis (example)
.... TumorProgression S 0..1 CodeableConcept Tumor Progression
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/TumorProgression
Binding: Tumor Progression (example)
.... TumorGrade S 0..* CodeableConcept Tumor Grade
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/TumorGrade
Binding: Tumor Grade (example)
.... PathologicalStage S 0..* CodeableConcept Pathological Tumor Stage
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/PathologicalStage
Binding: Tumor Stage (example)
.... PathologicalTnmFinding S 0..* CodeableConcept Pathological TNM Finding
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/PathologicalTnmFinding
Binding: Tumor Stage (example)
.... DiagnosticMarker S 0..* CodeableConcept Diagnostic Marker
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/DiagnosticMarker
Binding: Diagnostic Marker (example)
.... MaterialSample S 0..1 CodeableConcept Material Sample
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/MaterialSample
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... status ?!Σ 0..1 code available | unavailable | unsatisfactory | entered-in-error
Binding: SpecimenStatus (required): Codes providing the status/availability of a specimen.

... type SΣ 0..1 CodeableConcept Corresponds to sample_type (GA4GH)
Binding: hl7VS-specimenType (example): The type of the specimen.

... subject SΣ 0..1 Reference(Patient) Patient.identifier corresponds to individual_id (GA4GH)
... collection 0..1 BackboneElement Collection details
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... collected[x] SΣ 0..1 Corresponds to time_of_collection (GA4GH)
..... collectedDateTime dateTime
..... collectedPeriod Period
.... bodySite S 0..1 CodeableConcept Anatomical collection site. Corresponds to sampled_tissue (GA4GH)
Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.

... processing 0..* BackboneElement Processing and processing step details
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... procedure S 0..1 CodeableConcept Corresponds to procedure (GA4GH)
Binding: SpecimenProcessingProcedure (example): Type indicating the technique used to process the specimen.

... note S 0..* Annotation Corresponds to description (GA4GH)

doco Documentation for this format

Terminology Bindings

PathConformanceValueSetURI
Specimen.statusrequiredSpecimenStatus
http://hl7.org/fhir/ValueSet/specimen-status|4.0.1
from the FHIR Standard
Specimen.typeexampleHl7VSSpecimenType
http://terminology.hl7.org/ValueSet/v2-0487
Specimen.collection.bodySiteexampleSNOMEDCTBodyStructures
http://hl7.org/fhir/ValueSet/body-site
from the FHIR Standard
Specimen.processing.procedureexampleSpecimenProcessingProcedure
http://hl7.org/fhir/ValueSet/specimen-processing-procedure
from the FHIR Standard

Constraints

IdGradePath(s)DetailsRequirements
dom-2errorSpecimenIf the resource is contained in another resource, it SHALL NOT contain nested Resources
: contained.contained.empty()
dom-3errorSpecimenIf 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-4errorSpecimenIf 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-5errorSpecimenIf a resource is contained in another resource, it SHALL NOT have a security label
: contained.meta.security.empty()
dom-6best practiceSpecimenA 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()
NameFlagsCard.TypeDescription & Constraintsdoco
.. Specimen 0..* Specimen Sample for analysis
... 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
... 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
.... Taxonomy S 0..1 CodeableConcept Taxonomy
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/Taxonomy
Binding: Taxonomy (required)
.... HistologicalDiagnosis S 0..* CodeableConcept Histological Diagnosis
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/HistologicalDiagnosis
Binding: HistologicalDiagnosis (example)
.... TumorProgression S 0..1 CodeableConcept Tumor Progression
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/TumorProgression
Binding: Tumor Progression (example)
.... TumorGrade S 0..* CodeableConcept Tumor Grade
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/TumorGrade
Binding: Tumor Grade (example)
.... PathologicalStage S 0..* CodeableConcept Pathological Tumor Stage
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/PathologicalStage
Binding: Tumor Stage (example)
.... PathologicalTnmFinding S 0..* CodeableConcept Pathological TNM Finding
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/PathologicalTnmFinding
Binding: Tumor Stage (example)
.... DiagnosticMarker S 0..* CodeableConcept Diagnostic Marker
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/DiagnosticMarker
Binding: Diagnostic Marker (example)
.... MaterialSample S 0..1 CodeableConcept Material Sample
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/MaterialSample
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... identifier SΣ 1..1 Identifier Corresponds to id (GA4GH), i.e., a specimen identifier
... accessionIdentifier Σ 0..1 Identifier Identifier assigned by the lab
... status ?!Σ 0..1 code available | unavailable | unsatisfactory | entered-in-error
Binding: SpecimenStatus (required): Codes providing the status/availability of a specimen.

... type SΣ 0..1 CodeableConcept Corresponds to sample_type (GA4GH)
Binding: hl7VS-specimenType (example): The type of the specimen.

... subject SΣ 0..1 Reference(Patient) Patient.identifier corresponds to individual_id (GA4GH)
... receivedTime Σ 0..1 dateTime The time when specimen was received for processing
... parent 0..* Reference(Specimen) Specimen from which this specimen originated
... request 0..* Reference(ServiceRequest) Why the specimen was collected
... collection 0..1 BackboneElement Collection details
.... 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
.... collector Σ 0..1 Reference(Practitioner | PractitionerRole) Who collected the specimen
.... collected[x] SΣ 0..1 Corresponds to time_of_collection (GA4GH)
..... collectedDateTime dateTime
..... collectedPeriod Period
.... duration Σ 0..1 Duration How long it took to collect specimen
.... quantity 0..1 SimpleQuantity The quantity of specimen collected
.... method 0..1 CodeableConcept Technique used to perform collection
Binding: FHIRSpecimenCollectionMethod (example): The technique that is used to perform the procedure.

.... bodySite S 0..1 CodeableConcept Anatomical collection site. Corresponds to sampled_tissue (GA4GH)
Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.

.... fastingStatus[x] Σ 0..1 Whether or how long patient abstained from food and/or drink
Binding: hl7VS-relevantClincialInformation (extensible): Codes describing the fasting status of the patient.

..... fastingStatusCodeableConcept CodeableConcept
..... fastingStatusDuration Duration
... processing 0..* BackboneElement Processing and processing step details
.... 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
.... description 0..1 string Textual description of procedure
.... procedure S 0..1 CodeableConcept Corresponds to procedure (GA4GH)
Binding: SpecimenProcessingProcedure (example): Type indicating the technique used to process the specimen.

.... additive 0..* Reference(Substance) Material used in the processing step
.... time[x] 0..1 Date and time of specimen processing
..... timeDateTime dateTime
..... timePeriod Period
... container 0..* BackboneElement Direct container of specimen (tube/slide, etc.)
.... 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
.... identifier Σ 0..* Identifier Id for the container
.... description 0..1 string Textual description of the container
.... type 0..1 CodeableConcept Kind of container directly associated with specimen
Binding: SpecimenContainerType (example): Type of specimen container.

.... capacity 0..1 SimpleQuantity Container volume or size
.... specimenQuantity 0..1 SimpleQuantity Quantity of specimen within container
.... additive[x] 0..1 Additive associated with container
Binding: hl7VS-additivePreservative (example): Substance added to specimen container.

..... additiveCodeableConcept CodeableConcept
..... additiveReference Reference(Substance)
... condition Σ 0..* CodeableConcept State of the specimen
Binding: hl7VS-specimenCondition (extensible): Codes describing the state of the specimen.


... note S 0..* Annotation Corresponds to description (GA4GH)

doco Documentation for this format

Terminology Bindings

PathConformanceValueSetURI
Specimen.languagepreferredCommonLanguages
Additional Bindings Purpose
AllLanguages Max Binding
http://hl7.org/fhir/ValueSet/languages
from the FHIR Standard
Specimen.statusrequiredSpecimenStatus
http://hl7.org/fhir/ValueSet/specimen-status|4.0.1
from the FHIR Standard
Specimen.typeexampleHl7VSSpecimenType
http://terminology.hl7.org/ValueSet/v2-0487
Specimen.collection.methodexampleFHIRSpecimenCollectionMethod
http://hl7.org/fhir/ValueSet/specimen-collection-method
from the FHIR Standard
Specimen.collection.bodySiteexampleSNOMEDCTBodyStructures
http://hl7.org/fhir/ValueSet/body-site
from the FHIR Standard
Specimen.collection.fastingStatus[x]extensibleHl7VSRelevantClincialInformation
http://terminology.hl7.org/ValueSet/v2-0916
Specimen.processing.procedureexampleSpecimenProcessingProcedure
http://hl7.org/fhir/ValueSet/specimen-processing-procedure
from the FHIR Standard
Specimen.container.typeexampleSpecimenContainerType
http://hl7.org/fhir/ValueSet/specimen-container-type
from the FHIR Standard
Specimen.container.additive[x]exampleHl7VSAdditivePreservative
http://terminology.hl7.org/ValueSet/v2-0371
Specimen.conditionextensibleHl7VSSpecimenCondition
http://terminology.hl7.org/ValueSet/v2-0493

Constraints

IdGradePath(s)DetailsRequirements
dom-2errorSpecimenIf the resource is contained in another resource, it SHALL NOT contain nested Resources
: contained.contained.empty()
dom-3errorSpecimenIf 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-4errorSpecimenIf 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-5errorSpecimenIf a resource is contained in another resource, it SHALL NOT have a security label
: contained.meta.security.empty()
dom-6best practiceSpecimenA 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()

Differential View

This structure is derived from Specimen

NameFlagsCard.TypeDescription & Constraintsdoco
.. Specimen 0..* Specimen Sample for analysis
... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
.... Taxonomy S 0..1 CodeableConcept Taxonomy
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/Taxonomy
Binding: Taxonomy (required)
.... HistologicalDiagnosis S 0..* CodeableConcept Histological Diagnosis
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/HistologicalDiagnosis
Binding: HistologicalDiagnosis (example)
.... TumorProgression S 0..1 CodeableConcept Tumor Progression
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/TumorProgression
Binding: Tumor Progression (example)
.... TumorGrade S 0..* CodeableConcept Tumor Grade
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/TumorGrade
Binding: Tumor Grade (example)
.... PathologicalStage S 0..* CodeableConcept Pathological Tumor Stage
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/PathologicalStage
Binding: Tumor Stage (example)
.... PathologicalTnmFinding S 0..* CodeableConcept Pathological TNM Finding
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/PathologicalTnmFinding
Binding: Tumor Stage (example)
.... DiagnosticMarker S 0..* CodeableConcept Diagnostic Marker
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/DiagnosticMarker
Binding: Diagnostic Marker (example)
.... MaterialSample S 0..1 CodeableConcept Material Sample
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/MaterialSample
... identifier S 1..1 Identifier Corresponds to id (GA4GH), i.e., a specimen identifier
... type S 0..1 CodeableConcept Corresponds to sample_type (GA4GH)
... collection
.... collected[x] S 0..1 dateTime, Period Corresponds to time_of_collection (GA4GH)
.... bodySite S 0..1 CodeableConcept Anatomical collection site. Corresponds to sampled_tissue (GA4GH)
... processing
.... procedure S 0..1 CodeableConcept Corresponds to procedure (GA4GH)
... note S 0..* Annotation Corresponds to description (GA4GH)

doco Documentation for this format

Key Elements View

NameFlagsCard.TypeDescription & Constraintsdoco
.. Specimen 0..* Specimen Sample for analysis
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
.... Taxonomy S 0..1 CodeableConcept Taxonomy
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/Taxonomy
Binding: Taxonomy (required)
.... HistologicalDiagnosis S 0..* CodeableConcept Histological Diagnosis
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/HistologicalDiagnosis
Binding: HistologicalDiagnosis (example)
.... TumorProgression S 0..1 CodeableConcept Tumor Progression
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/TumorProgression
Binding: Tumor Progression (example)
.... TumorGrade S 0..* CodeableConcept Tumor Grade
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/TumorGrade
Binding: Tumor Grade (example)
.... PathologicalStage S 0..* CodeableConcept Pathological Tumor Stage
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/PathologicalStage
Binding: Tumor Stage (example)
.... PathologicalTnmFinding S 0..* CodeableConcept Pathological TNM Finding
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/PathologicalTnmFinding
Binding: Tumor Stage (example)
.... DiagnosticMarker S 0..* CodeableConcept Diagnostic Marker
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/DiagnosticMarker
Binding: Diagnostic Marker (example)
.... MaterialSample S 0..1 CodeableConcept Material Sample
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/MaterialSample
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... status ?!Σ 0..1 code available | unavailable | unsatisfactory | entered-in-error
Binding: SpecimenStatus (required): Codes providing the status/availability of a specimen.

... type SΣ 0..1 CodeableConcept Corresponds to sample_type (GA4GH)
Binding: hl7VS-specimenType (example): The type of the specimen.

... subject SΣ 0..1 Reference(Patient) Patient.identifier corresponds to individual_id (GA4GH)
... collection 0..1 BackboneElement Collection details
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... collected[x] SΣ 0..1 Corresponds to time_of_collection (GA4GH)
..... collectedDateTime dateTime
..... collectedPeriod Period
.... bodySite S 0..1 CodeableConcept Anatomical collection site. Corresponds to sampled_tissue (GA4GH)
Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.

... processing 0..* BackboneElement Processing and processing step details
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... procedure S 0..1 CodeableConcept Corresponds to procedure (GA4GH)
Binding: SpecimenProcessingProcedure (example): Type indicating the technique used to process the specimen.

... note S 0..* Annotation Corresponds to description (GA4GH)

doco Documentation for this format

Terminology Bindings

PathConformanceValueSetURI
Specimen.statusrequiredSpecimenStatus
http://hl7.org/fhir/ValueSet/specimen-status|4.0.1
from the FHIR Standard
Specimen.typeexampleHl7VSSpecimenType
http://terminology.hl7.org/ValueSet/v2-0487
Specimen.collection.bodySiteexampleSNOMEDCTBodyStructures
http://hl7.org/fhir/ValueSet/body-site
from the FHIR Standard
Specimen.processing.procedureexampleSpecimenProcessingProcedure
http://hl7.org/fhir/ValueSet/specimen-processing-procedure
from the FHIR Standard

Constraints

IdGradePath(s)DetailsRequirements
dom-2errorSpecimenIf the resource is contained in another resource, it SHALL NOT contain nested Resources
: contained.contained.empty()
dom-3errorSpecimenIf 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-4errorSpecimenIf 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-5errorSpecimenIf a resource is contained in another resource, it SHALL NOT have a security label
: contained.meta.security.empty()
dom-6best practiceSpecimenA 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()

Snapshot View

NameFlagsCard.TypeDescription & Constraintsdoco
.. Specimen 0..* Specimen Sample for analysis
... 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
... 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
.... Taxonomy S 0..1 CodeableConcept Taxonomy
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/Taxonomy
Binding: Taxonomy (required)
.... HistologicalDiagnosis S 0..* CodeableConcept Histological Diagnosis
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/HistologicalDiagnosis
Binding: HistologicalDiagnosis (example)
.... TumorProgression S 0..1 CodeableConcept Tumor Progression
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/TumorProgression
Binding: Tumor Progression (example)
.... TumorGrade S 0..* CodeableConcept Tumor Grade
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/TumorGrade
Binding: Tumor Grade (example)
.... PathologicalStage S 0..* CodeableConcept Pathological Tumor Stage
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/PathologicalStage
Binding: Tumor Stage (example)
.... PathologicalTnmFinding S 0..* CodeableConcept Pathological TNM Finding
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/PathologicalTnmFinding
Binding: Tumor Stage (example)
.... DiagnosticMarker S 0..* CodeableConcept Diagnostic Marker
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/DiagnosticMarker
Binding: Diagnostic Marker (example)
.... MaterialSample S 0..1 CodeableConcept Material Sample
URL: http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/MaterialSample
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... identifier SΣ 1..1 Identifier Corresponds to id (GA4GH), i.e., a specimen identifier
... accessionIdentifier Σ 0..1 Identifier Identifier assigned by the lab
... status ?!Σ 0..1 code available | unavailable | unsatisfactory | entered-in-error
Binding: SpecimenStatus (required): Codes providing the status/availability of a specimen.

... type SΣ 0..1 CodeableConcept Corresponds to sample_type (GA4GH)
Binding: hl7VS-specimenType (example): The type of the specimen.

... subject SΣ 0..1 Reference(Patient) Patient.identifier corresponds to individual_id (GA4GH)
... receivedTime Σ 0..1 dateTime The time when specimen was received for processing
... parent 0..* Reference(Specimen) Specimen from which this specimen originated
... request 0..* Reference(ServiceRequest) Why the specimen was collected
... collection 0..1 BackboneElement Collection details
.... 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
.... collector Σ 0..1 Reference(Practitioner | PractitionerRole) Who collected the specimen
.... collected[x] SΣ 0..1 Corresponds to time_of_collection (GA4GH)
..... collectedDateTime dateTime
..... collectedPeriod Period
.... duration Σ 0..1 Duration How long it took to collect specimen
.... quantity 0..1 SimpleQuantity The quantity of specimen collected
.... method 0..1 CodeableConcept Technique used to perform collection
Binding: FHIRSpecimenCollectionMethod (example): The technique that is used to perform the procedure.

.... bodySite S 0..1 CodeableConcept Anatomical collection site. Corresponds to sampled_tissue (GA4GH)
Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.

.... fastingStatus[x] Σ 0..1 Whether or how long patient abstained from food and/or drink
Binding: hl7VS-relevantClincialInformation (extensible): Codes describing the fasting status of the patient.

..... fastingStatusCodeableConcept CodeableConcept
..... fastingStatusDuration Duration
... processing 0..* BackboneElement Processing and processing step details
.... 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
.... description 0..1 string Textual description of procedure
.... procedure S 0..1 CodeableConcept Corresponds to procedure (GA4GH)
Binding: SpecimenProcessingProcedure (example): Type indicating the technique used to process the specimen.

.... additive 0..* Reference(Substance) Material used in the processing step
.... time[x] 0..1 Date and time of specimen processing
..... timeDateTime dateTime
..... timePeriod Period
... container 0..* BackboneElement Direct container of specimen (tube/slide, etc.)
.... 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
.... identifier Σ 0..* Identifier Id for the container
.... description 0..1 string Textual description of the container
.... type 0..1 CodeableConcept Kind of container directly associated with specimen
Binding: SpecimenContainerType (example): Type of specimen container.

.... capacity 0..1 SimpleQuantity Container volume or size
.... specimenQuantity 0..1 SimpleQuantity Quantity of specimen within container
.... additive[x] 0..1 Additive associated with container
Binding: hl7VS-additivePreservative (example): Substance added to specimen container.

..... additiveCodeableConcept CodeableConcept
..... additiveReference Reference(Substance)
... condition Σ 0..* CodeableConcept State of the specimen
Binding: hl7VS-specimenCondition (extensible): Codes describing the state of the specimen.


... note S 0..* Annotation Corresponds to description (GA4GH)

doco Documentation for this format

Terminology Bindings

PathConformanceValueSetURI
Specimen.languagepreferredCommonLanguages
Additional Bindings Purpose
AllLanguages Max Binding
http://hl7.org/fhir/ValueSet/languages
from the FHIR Standard
Specimen.statusrequiredSpecimenStatus
http://hl7.org/fhir/ValueSet/specimen-status|4.0.1
from the FHIR Standard
Specimen.typeexampleHl7VSSpecimenType
http://terminology.hl7.org/ValueSet/v2-0487
Specimen.collection.methodexampleFHIRSpecimenCollectionMethod
http://hl7.org/fhir/ValueSet/specimen-collection-method
from the FHIR Standard
Specimen.collection.bodySiteexampleSNOMEDCTBodyStructures
http://hl7.org/fhir/ValueSet/body-site
from the FHIR Standard
Specimen.collection.fastingStatus[x]extensibleHl7VSRelevantClincialInformation
http://terminology.hl7.org/ValueSet/v2-0916
Specimen.processing.procedureexampleSpecimenProcessingProcedure
http://hl7.org/fhir/ValueSet/specimen-processing-procedure
from the FHIR Standard
Specimen.container.typeexampleSpecimenContainerType
http://hl7.org/fhir/ValueSet/specimen-container-type
from the FHIR Standard
Specimen.container.additive[x]exampleHl7VSAdditivePreservative
http://terminology.hl7.org/ValueSet/v2-0371
Specimen.conditionextensibleHl7VSSpecimenCondition
http://terminology.hl7.org/ValueSet/v2-0493

Constraints

IdGradePath(s)DetailsRequirements
dom-2errorSpecimenIf the resource is contained in another resource, it SHALL NOT contain nested Resources
: contained.contained.empty()
dom-3errorSpecimenIf 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-4errorSpecimenIf 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-5errorSpecimenIf a resource is contained in another resource, it SHALL NOT have a security label
: contained.meta.security.empty()
dom-6best practiceSpecimenA 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()

 

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