Source | arkhn.fhir.uv.osiris#current:FHIR Osiris Implementation Guide (v4.0.1) |
resourceType | StructureDefinition |
id | fusion |
canonical | https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/fusion |
version | 2.1.0 |
status | draft |
publisher | Arkhn |
name | Fusion |
title | Gene Fusion |
date | 2023-08-28T10:50:04+00:00 |
description | 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. |
fhirVersion | 4.0.1 |
kind | resource |
abstract | false |
sdTtype | Observation |
derivation | constraint |
base | http://hl7.org/fhir/StructureDefinition/Observation |
Usages |
|
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
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 | |||
Documentation for this format |
Produced 08 Sep 2023