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FHIR Osiris Implementation Guide
1.1.0 - trial-implementation

This page is part of the OSIRIS FHIR Implementation Guide (v1.1.0: Release) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

Resource Profile: Gene Fusion

Official URL: https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/fusion Version: 1.1.0
Draft as of 2025-04-03 Computable Name: Fusion

Observation of a Gene Fusion derived from a SequencingAnalysis. The Fusion profile indicates the pathogenicity, the actionability and if the fusion has occured in the reading frame.

Usage:

Formal Views of Profile Content

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

NomDrapeauxCard.TypeDescription et contraintesdoco
.. Observation C 0..* Observation Measurements and simple assertions
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 pour extension 0..* Extension Extension
Slice: Unordered, Open by value:url
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
.... extension:spanning-pairs S 0..1 (Complex) Number of reads pairs spanning the fusion
URL: https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/spanning-pairs
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... extension 0..0
..... url 1..1 uri "https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/spanning-pairs"
..... value[x] 0..1 integer Value of extension
ele-1: All FHIR elements must have a @value or children
.... extension:split-reads S 0..1 (Complex) Number of reads containing the fusion point
URL: https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/split-reads
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... extension 0..0
..... url 1..1 uri "https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/split-reads"
..... value[x] 0..1 integer Value of extension
ele-1: All FHIR elements must have a @value or children
... 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
... code Σ 1..1 CodeableConcept Type of the fusion event. eg: translocation, readthrough
Binding: Fusion Type Value Set (required)
ele-1: All FHIR elements must have a @value or children
... subject Σ 0..1 Reference(Oncology Patient) Who and/or what the observation is about
ele-1: All FHIR elements must have a @value or children
... Slices pour derivedFrom Σ 1..* Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) Related measurements the observation is made from
Slice: Unordered, Open by pattern:reference
ele-1: All FHIR elements must have a @value or children
.... derivedFrom:fusion-molecular-sequences Σ 0..2 Reference(5 Prime Molecular Sequence | 3 Prime Molecular Sequence) Five prime and three prime positions of the fusion
ele-1: All FHIR elements must have a @value or children
.... derivedFrom:analysis Σ 1..1 Reference(Sequencing Analysis) Analysis from which come this observation
ele-1: All FHIR elements must have a @value or children
... Slices pour component Σ 1..* BackboneElement Component results
Slice: Unordered, Open by pattern:code
ele-1: All FHIR elements must have a @value or children
.... component:All Slices Content/Rules for all slices
..... 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:actionability Σ 0..1 BackboneElement Conclusion of the clinicians wether the variant is actionable or not during the Molecular Tumor Board
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 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
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: 93348-1
..... value[x] Σ 0..1 boolean Actual component result
ele-1: All FHIR elements must have a @value or children
.... component:proposed-for-orientation Σ 0..1 BackboneElement Is the ClinicalTumorBoardConclusion used to orient the treatment decision ?
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 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
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://terminology.hl7.org/CodeSystem/umls
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: C0449889
..... value[x] Σ 0..1 boolean Actual component result
ele-1: All FHIR elements must have a @value or children
.... component:pathogenicity Σ 0..1 BackboneElement Conclusion of the biologist on the pathogenicity of the variant before the Molecular Tumor Board
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 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
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: 74019-1
..... value[x] Σ 0..1 CodeableConcept Actual component result
Binding: Pathogenicity Value Set (required)
ele-1: All FHIR elements must have a @value or children
.... component:gene-studied Σ 0..* BackboneElement Gene studied [ID]
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 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
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: 48018-6
..... value[x] Σ 1..1 CodeableConcept If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.
Binding: HGNC (extensible)
ele-1: All FHIR elements must have a @value or children
.... component:in-frame Σ 1..1 BackboneElement Specify whether the fusion is in frame
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 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
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: 95123-6
..... value[x] Σ 0..1 boolean Actual component result
ele-1: All FHIR elements must have a @value or children

doco Documentation for this format

Terminology Bindings

PathConformitéValueSet / CodeURI
Observation.statusrequiredObservationStatus
http://hl7.org/fhir/ValueSet/observation-status|4.0.1
from the FHIR Standard
Observation.coderequiredFusionType
https://ig-osiris.cancer.fr/ig/osiris/ValueSet/FusionType
from this IG
Observation.component.codeexampleLOINCCodes (a valid code from LOINC)
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:actionability.codeexamplePattern: LOINC Code 93348-1
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:proposed-for-orientation.codeexamplePattern: C0449889
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:pathogenicity.codeexamplePattern: LOINC Code 74019-1
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:pathogenicity.value[x]requiredPathogenicity
https://ig-osiris.cancer.fr/ig/osiris/ValueSet/Pathogenicity
from this IG
Observation.component:gene-studied.codeexamplePattern: LOINC Code 48018-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:gene-studied.value[x]extensibleHGNC
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc
Observation.component:in-frame.codeexamplePattern: LOINC Code 95123-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard

This structure is derived from Observation

NomDrapeauxCard.TypeDescription et contraintesdoco
.. Observation Observation
... Slices pour extension 0..* Extension Extension
Slice: Unordered, Open by value:url
.... extension:spanning-pairs S 0..1 (Complex) Number of reads pairs spanning the fusion
URL: https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/spanning-pairs
..... value[x] 0..1 integer Value of extension
.... extension:split-reads S 0..1 (Complex) Number of reads containing the fusion point
URL: https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/split-reads
..... value[x] 0..1 integer Value of extension
... code 1..1 CodeableConcept Type of the fusion event. eg: translocation, readthrough
Binding: Fusion Type Value Set (required)
... subject 0..1 Reference(Oncology Patient) Who and/or what the observation is about
.... derivedFrom:fusion-molecular-sequences 0..2 Reference(5 Prime Molecular Sequence | 3 Prime Molecular Sequence) Five prime and three prime positions of the fusion
.... derivedFrom:analysis 1..1 Reference(Sequencing Analysis) Analysis from which come this observation
... Slices pour component 1..* BackboneElement Component results
Slice: Unordered, Open by pattern:code
.... component:actionability 0..1 BackboneElement Conclusion of the clinicians wether the variant is actionable or not during the Molecular Tumor Board
..... code 1..1 CodeableConcept Type of component observation (code / type)
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: 93348-1
..... value[x] 0..1 boolean Actual component result
.... component:proposed-for-orientation 0..1 BackboneElement Is the ClinicalTumorBoardConclusion used to orient the treatment decision ?
..... code 1..1 CodeableConcept Type of component observation (code / type)
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://terminology.hl7.org/CodeSystem/umls
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: C0449889
..... value[x] 0..1 boolean Actual component result
.... component:pathogenicity 0..1 BackboneElement Conclusion of the biologist on the pathogenicity of the variant before the Molecular Tumor Board
..... code 1..1 CodeableConcept Type of component observation (code / type)
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: 74019-1
..... value[x] 0..1 CodeableConcept Actual component result
Binding: Pathogenicity Value Set (required)
.... component:gene-studied 0..* BackboneElement Gene studied [ID]
..... code 1..1 CodeableConcept Type of component observation (code / type)
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: 48018-6
..... value[x] 1..1 CodeableConcept If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.
Binding: HGNC (extensible)
.... component:in-frame 1..1 BackboneElement Specify whether the fusion is in frame
..... code 1..1 CodeableConcept Type of component observation (code / type)
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: 95123-6
..... value[x] 0..1 boolean Actual component result

doco Documentation for this format

Terminology Bindings (Differential)

PathConformitéValueSetURI
Observation.coderequiredFusionType
https://ig-osiris.cancer.fr/ig/osiris/ValueSet/FusionType
from this IG
Observation.component:pathogenicity.value[x]requiredPathogenicity
https://ig-osiris.cancer.fr/ig/osiris/ValueSet/Pathogenicity
from this IG
Observation.component:gene-studied.value[x]extensibleHGNC
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc
NomDrapeauxCard.TypeDescription et contraintesdoco
.. Observation C 0..* Observation Measurements and simple assertions
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.

Bindings AdditionnelsBut
AllLanguages Binding Max
... text 0..1 Narrative Text summary of the resource, for human interpretation
... contained 0..* Resource Contained, inline Resources
... Slices pour extension 0..* Extension Extension
Slice: Unordered, Open by value:url
.... extension:spanning-pairs S 0..1 (Complex) Number of reads pairs spanning the fusion
URL: https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/spanning-pairs
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..0
..... url 1..1 uri "https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/spanning-pairs"
..... value[x] 0..1 integer Value of extension
.... extension:split-reads S 0..1 (Complex) Number of reads containing the fusion point
URL: https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/split-reads
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..0
..... url 1..1 uri "https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/split-reads"
..... value[x] 0..1 integer Value of extension
... 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) Part of referenced event
... status ?!Σ 1..1 code registered | preliminary | final | amended +
Binding: ObservationStatus (required): Codes providing the status of an observation.

... category 0..* CodeableConcept Classification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


... code Σ 1..1 CodeableConcept Type of the fusion event. eg: translocation, readthrough
Binding: Fusion Type Value Set (required)
... subject Σ 0..1 Reference(Oncology Patient) 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
... value[x] ΣC 0..1 Actual 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 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..* Annotation Comments about the observation
... 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 pour derivedFrom Σ 1..* Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) Related measurements the observation is made from
Slice: Unordered, Open by pattern:reference
.... derivedFrom:fusion-molecular-sequences Σ 0..2 Reference(5 Prime Molecular Sequence | 3 Prime Molecular Sequence) Five prime and three prime positions of the fusion
.... derivedFrom:analysis Σ 1..1 Reference(Sequencing Analysis) Analysis from which come this observation
... Slices pour component Σ 1..* BackboneElement Component results
Slice: Unordered, Open by pattern:code
.... component:All Slices Content/Rules for all slices
..... 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 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:actionability Σ 0..1 BackboneElement Conclusion of the clinicians wether the variant is actionable or not during the Molecular Tumor Board
..... 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 Type of component observation (code / type)
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: 93348-1
....... 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 boolean 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:proposed-for-orientation Σ 0..1 BackboneElement Is the ClinicalTumorBoardConclusion used to orient the treatment decision ?
..... 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 Type of component observation (code / type)
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://terminology.hl7.org/CodeSystem/umls
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: C0449889
....... 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 boolean 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:pathogenicity Σ 0..1 BackboneElement Conclusion of the biologist on the pathogenicity of the variant before the Molecular Tumor Board
..... 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 Type of component observation (code / type)
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: 74019-1
....... 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 CodeableConcept Actual component result
Binding: Pathogenicity Value Set (required)
..... 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:gene-studied Σ 0..* BackboneElement Gene studied [ID]
..... 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 Type of component observation (code / type)
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: 48018-6
....... 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 If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.
Binding: HGNC (extensible)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:in-frame Σ 1..1 BackboneElement Specify whether the fusion is in frame
..... 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 Type of component observation (code / type)
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: 95123-6
....... 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 0..1 boolean 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

PathConformitéValueSet / CodeURI
Observation.languagepreferredCommonLanguages
http://hl7.org/fhir/ValueSet/languages
from the FHIR Standard
Bindings Additionnels But
AllLanguages Binding Max
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.coderequiredFusionType
https://ig-osiris.cancer.fr/ig/osiris/ValueSet/FusionType
from this IG
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:actionability.codeexamplePattern: LOINC Code 93348-1
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:actionability.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:actionability.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:proposed-for-orientation.codeexamplePattern: C0449889
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:proposed-for-orientation.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:proposed-for-orientation.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:pathogenicity.codeexamplePattern: LOINC Code 74019-1
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:pathogenicity.value[x]requiredPathogenicity
https://ig-osiris.cancer.fr/ig/osiris/ValueSet/Pathogenicity
from this IG
Observation.component:pathogenicity.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:pathogenicity.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:gene-studied.codeexamplePattern: LOINC Code 48018-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:gene-studied.value[x]extensibleHGNC
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc
Observation.component:gene-studied.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:gene-studied.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:in-frame.codeexamplePattern: LOINC Code 95123-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:in-frame.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:in-frame.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard

This structure is derived from Observation

Résumé

Mandatory: 4 elements(1 nested mandatory element)
Must-Support: 2 elements

Structures

This structure refers to these other structures:

Extensions

This structure refers to these extensions:

Slices

This structure defines the following Slices:

  • The element 1 is sliced based on the value of Observation.derivedFrom
  • The element 1 is sliced based on the value of Observation.component

Key Elements View

NomDrapeauxCard.TypeDescription et contraintesdoco
.. Observation C 0..* Observation Measurements and simple assertions
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 pour extension 0..* Extension Extension
Slice: Unordered, Open by value:url
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
.... extension:spanning-pairs S 0..1 (Complex) Number of reads pairs spanning the fusion
URL: https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/spanning-pairs
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... extension 0..0
..... url 1..1 uri "https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/spanning-pairs"
..... value[x] 0..1 integer Value of extension
ele-1: All FHIR elements must have a @value or children
.... extension:split-reads S 0..1 (Complex) Number of reads containing the fusion point
URL: https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/split-reads
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... extension 0..0
..... url 1..1 uri "https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/split-reads"
..... value[x] 0..1 integer Value of extension
ele-1: All FHIR elements must have a @value or children
... 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
... code Σ 1..1 CodeableConcept Type of the fusion event. eg: translocation, readthrough
Binding: Fusion Type Value Set (required)
ele-1: All FHIR elements must have a @value or children
... subject Σ 0..1 Reference(Oncology Patient) Who and/or what the observation is about
ele-1: All FHIR elements must have a @value or children
... Slices pour derivedFrom Σ 1..* Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) Related measurements the observation is made from
Slice: Unordered, Open by pattern:reference
ele-1: All FHIR elements must have a @value or children
.... derivedFrom:fusion-molecular-sequences Σ 0..2 Reference(5 Prime Molecular Sequence | 3 Prime Molecular Sequence) Five prime and three prime positions of the fusion
ele-1: All FHIR elements must have a @value or children
.... derivedFrom:analysis Σ 1..1 Reference(Sequencing Analysis) Analysis from which come this observation
ele-1: All FHIR elements must have a @value or children
... Slices pour component Σ 1..* BackboneElement Component results
Slice: Unordered, Open by pattern:code
ele-1: All FHIR elements must have a @value or children
.... component:All Slices Content/Rules for all slices
..... 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:actionability Σ 0..1 BackboneElement Conclusion of the clinicians wether the variant is actionable or not during the Molecular Tumor Board
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 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
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: 93348-1
..... value[x] Σ 0..1 boolean Actual component result
ele-1: All FHIR elements must have a @value or children
.... component:proposed-for-orientation Σ 0..1 BackboneElement Is the ClinicalTumorBoardConclusion used to orient the treatment decision ?
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 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
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://terminology.hl7.org/CodeSystem/umls
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: C0449889
..... value[x] Σ 0..1 boolean Actual component result
ele-1: All FHIR elements must have a @value or children
.... component:pathogenicity Σ 0..1 BackboneElement Conclusion of the biologist on the pathogenicity of the variant before the Molecular Tumor Board
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 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
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: 74019-1
..... value[x] Σ 0..1 CodeableConcept Actual component result
Binding: Pathogenicity Value Set (required)
ele-1: All FHIR elements must have a @value or children
.... component:gene-studied Σ 0..* BackboneElement Gene studied [ID]
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 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
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: 48018-6
..... value[x] Σ 1..1 CodeableConcept If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.
Binding: HGNC (extensible)
ele-1: All FHIR elements must have a @value or children
.... component:in-frame Σ 1..1 BackboneElement Specify whether the fusion is in frame
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 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
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: 95123-6
..... value[x] Σ 0..1 boolean Actual component result
ele-1: All FHIR elements must have a @value or children

doco Documentation for this format

Terminology Bindings

PathConformitéValueSet / CodeURI
Observation.statusrequiredObservationStatus
http://hl7.org/fhir/ValueSet/observation-status|4.0.1
from the FHIR Standard
Observation.coderequiredFusionType
https://ig-osiris.cancer.fr/ig/osiris/ValueSet/FusionType
from this IG
Observation.component.codeexampleLOINCCodes (a valid code from LOINC)
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:actionability.codeexamplePattern: LOINC Code 93348-1
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:proposed-for-orientation.codeexamplePattern: C0449889
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:pathogenicity.codeexamplePattern: LOINC Code 74019-1
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:pathogenicity.value[x]requiredPathogenicity
https://ig-osiris.cancer.fr/ig/osiris/ValueSet/Pathogenicity
from this IG
Observation.component:gene-studied.codeexamplePattern: LOINC Code 48018-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:gene-studied.value[x]extensibleHGNC
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc
Observation.component:in-frame.codeexamplePattern: LOINC Code 95123-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard

Differential View

This structure is derived from Observation

NomDrapeauxCard.TypeDescription et contraintesdoco
.. Observation Observation
... Slices pour extension 0..* Extension Extension
Slice: Unordered, Open by value:url
.... extension:spanning-pairs S 0..1 (Complex) Number of reads pairs spanning the fusion
URL: https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/spanning-pairs
..... value[x] 0..1 integer Value of extension
.... extension:split-reads S 0..1 (Complex) Number of reads containing the fusion point
URL: https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/split-reads
..... value[x] 0..1 integer Value of extension
... code 1..1 CodeableConcept Type of the fusion event. eg: translocation, readthrough
Binding: Fusion Type Value Set (required)
... subject 0..1 Reference(Oncology Patient) Who and/or what the observation is about
.... derivedFrom:fusion-molecular-sequences 0..2 Reference(5 Prime Molecular Sequence | 3 Prime Molecular Sequence) Five prime and three prime positions of the fusion
.... derivedFrom:analysis 1..1 Reference(Sequencing Analysis) Analysis from which come this observation
... Slices pour component 1..* BackboneElement Component results
Slice: Unordered, Open by pattern:code
.... component:actionability 0..1 BackboneElement Conclusion of the clinicians wether the variant is actionable or not during the Molecular Tumor Board
..... code 1..1 CodeableConcept Type of component observation (code / type)
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: 93348-1
..... value[x] 0..1 boolean Actual component result
.... component:proposed-for-orientation 0..1 BackboneElement Is the ClinicalTumorBoardConclusion used to orient the treatment decision ?
..... code 1..1 CodeableConcept Type of component observation (code / type)
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://terminology.hl7.org/CodeSystem/umls
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: C0449889
..... value[x] 0..1 boolean Actual component result
.... component:pathogenicity 0..1 BackboneElement Conclusion of the biologist on the pathogenicity of the variant before the Molecular Tumor Board
..... code 1..1 CodeableConcept Type of component observation (code / type)
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: 74019-1
..... value[x] 0..1 CodeableConcept Actual component result
Binding: Pathogenicity Value Set (required)
.... component:gene-studied 0..* BackboneElement Gene studied [ID]
..... code 1..1 CodeableConcept Type of component observation (code / type)
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: 48018-6
..... value[x] 1..1 CodeableConcept If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.
Binding: HGNC (extensible)
.... component:in-frame 1..1 BackboneElement Specify whether the fusion is in frame
..... code 1..1 CodeableConcept Type of component observation (code / type)
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: 95123-6
..... value[x] 0..1 boolean Actual component result

doco Documentation for this format

Terminology Bindings (Differential)

PathConformitéValueSetURI
Observation.coderequiredFusionType
https://ig-osiris.cancer.fr/ig/osiris/ValueSet/FusionType
from this IG
Observation.component:pathogenicity.value[x]requiredPathogenicity
https://ig-osiris.cancer.fr/ig/osiris/ValueSet/Pathogenicity
from this IG
Observation.component:gene-studied.value[x]extensibleHGNC
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc

Snapshot View

NomDrapeauxCard.TypeDescription et contraintesdoco
.. Observation C 0..* Observation Measurements and simple assertions
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.

Bindings AdditionnelsBut
AllLanguages Binding Max
... text 0..1 Narrative Text summary of the resource, for human interpretation
... contained 0..* Resource Contained, inline Resources
... Slices pour extension 0..* Extension Extension
Slice: Unordered, Open by value:url
.... extension:spanning-pairs S 0..1 (Complex) Number of reads pairs spanning the fusion
URL: https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/spanning-pairs
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..0
..... url 1..1 uri "https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/spanning-pairs"
..... value[x] 0..1 integer Value of extension
.... extension:split-reads S 0..1 (Complex) Number of reads containing the fusion point
URL: https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/split-reads
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..0
..... url 1..1 uri "https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/split-reads"
..... value[x] 0..1 integer Value of extension
... 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) Part of referenced event
... status ?!Σ 1..1 code registered | preliminary | final | amended +
Binding: ObservationStatus (required): Codes providing the status of an observation.

... category 0..* CodeableConcept Classification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


... code Σ 1..1 CodeableConcept Type of the fusion event. eg: translocation, readthrough
Binding: Fusion Type Value Set (required)
... subject Σ 0..1 Reference(Oncology Patient) 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
... value[x] ΣC 0..1 Actual 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 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..* Annotation Comments about the observation
... 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 pour derivedFrom Σ 1..* Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) Related measurements the observation is made from
Slice: Unordered, Open by pattern:reference
.... derivedFrom:fusion-molecular-sequences Σ 0..2 Reference(5 Prime Molecular Sequence | 3 Prime Molecular Sequence) Five prime and three prime positions of the fusion
.... derivedFrom:analysis Σ 1..1 Reference(Sequencing Analysis) Analysis from which come this observation
... Slices pour component Σ 1..* BackboneElement Component results
Slice: Unordered, Open by pattern:code
.... component:All Slices Content/Rules for all slices
..... 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 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:actionability Σ 0..1 BackboneElement Conclusion of the clinicians wether the variant is actionable or not during the Molecular Tumor Board
..... 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 Type of component observation (code / type)
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: 93348-1
....... 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 boolean 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:proposed-for-orientation Σ 0..1 BackboneElement Is the ClinicalTumorBoardConclusion used to orient the treatment decision ?
..... 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 Type of component observation (code / type)
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://terminology.hl7.org/CodeSystem/umls
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: C0449889
....... 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 boolean 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:pathogenicity Σ 0..1 BackboneElement Conclusion of the biologist on the pathogenicity of the variant before the Molecular Tumor Board
..... 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 Type of component observation (code / type)
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: 74019-1
....... 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 CodeableConcept Actual component result
Binding: Pathogenicity Value Set (required)
..... 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:gene-studied Σ 0..* BackboneElement Gene studied [ID]
..... 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 Type of component observation (code / type)
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: 48018-6
....... 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 If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.
Binding: HGNC (extensible)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:in-frame Σ 1..1 BackboneElement Specify whether the fusion is in frame
..... 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 Type of component observation (code / type)
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: 95123-6
....... 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 0..1 boolean 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

PathConformitéValueSet / CodeURI
Observation.languagepreferredCommonLanguages
http://hl7.org/fhir/ValueSet/languages
from the FHIR Standard
Bindings Additionnels But
AllLanguages Binding Max
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.coderequiredFusionType
https://ig-osiris.cancer.fr/ig/osiris/ValueSet/FusionType
from this IG
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:actionability.codeexamplePattern: LOINC Code 93348-1
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:actionability.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:actionability.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:proposed-for-orientation.codeexamplePattern: C0449889
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:proposed-for-orientation.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:proposed-for-orientation.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:pathogenicity.codeexamplePattern: LOINC Code 74019-1
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:pathogenicity.value[x]requiredPathogenicity
https://ig-osiris.cancer.fr/ig/osiris/ValueSet/Pathogenicity
from this IG
Observation.component:pathogenicity.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:pathogenicity.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:gene-studied.codeexamplePattern: LOINC Code 48018-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:gene-studied.value[x]extensibleHGNC
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc
Observation.component:gene-studied.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:gene-studied.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:in-frame.codeexamplePattern: LOINC Code 95123-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:in-frame.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:in-frame.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard

This structure is derived from Observation

Résumé

Mandatory: 4 elements(1 nested mandatory element)
Must-Support: 2 elements

Structures

This structure refers to these other structures:

Extensions

This structure refers to these extensions:

Slices

This structure defines the following Slices:

  • The element 1 is sliced based on the value of Observation.derivedFrom
  • The element 1 is sliced based on the value of Observation.component

 

Other representations of profile: CSV, Excel, Schematron