StructureDefinition-fusion

Sourcearkhn.fhir.uv.osiris#current:FHIR Osiris Implementation Guide (v4.0.1)
resourceTypeStructureDefinition
idfusion
canonicalhttps://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/fusion
version2.1.0
statusdraft
publisherArkhn
nameFusion
titleGene Fusion
date2023-08-28T10:50:04+00:00
descriptionObservation 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.
fhirVersion4.0.1
kindresource
abstractfalse
sdTtypeObservation
derivationconstraint
basehttp://hl7.org/fhir/StructureDefinition/Observation
Usages
Name Flags Card. Type Description & Constraints doco
. . Observation Observation
. . . Slices for extension Slice: Unordered, Open by value:url
. . . spanning-pairs S 0..1 integer Number of reads pairs spanning the fusion
URL: https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/spanning-pairs
. . . . value[x]
. . . split-reads S 0..1 integer Number of reads containing the fusion point
URL: https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/split-reads
. . . . value[x]
. . . code Type of the fusion event. eg: translocation, readthrough
Binding: Fusion Type Value Set ( required )
. . . subject Reference (Oncology Patient)
. . . Slices for derivedFrom 1 .. Slice: Unordered, Open by pattern:reference
. . . . 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 for component 1 .. Slice: Unordered, Open by pattern:code
. . . . component:actionability 0..1 Conclusion of the clinicians wether the variant is actionable or not during the Molecular Tumor Board
. . . . . code 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] boolean
. . . . component:proposed-for-orientation 0..1 Is the ClinicalTumorBoardConclusion used to orient the treatment decision ?
. . . . . code 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] boolean
. . . . component:pathogenicity 0..1 Conclusion of the biologist on the pathogenicity of the variant before the Molecular Tumor Board
. . . . . code 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] CodeableConcept Binding: Pathogenicity Value Set ( required )
. . . . component:gene-studied 0..* Gene studied [ID]
. . . . . code 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.. CodeableConcept If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.
Binding: todo ( extensible )
. . . . component:in-frame 1..1 Specify whether the fusion is in frame
. . . . . code 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] boolean

doco Documentation for this format

Produced 08 Sep 2023