Source | arkhn.fhir.uv.osiris#current:FHIR Osiris Implementation Guide (v4.0.1) |
resourceType | StructureDefinition |
id | copy-number |
canonical | https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/copy-number |
version | 2.1.0 |
status | draft |
publisher | Arkhn |
name | CopyNumber |
title | Variant Copy Number |
date | 2023-08-28T10:50:04+00:00 |
description | Observation of a Copy Number variant derived from a SequencingAnalysis. The CopyNumber profile is used to indicate the pathogenicity, the actionability, the loss of heterozygosity, the cytogenetic location, the start - end positions, the reference sequence assembly, the variation code, the segment intensity, the number of copy found and the Copy Number segment size. |
fhirVersion | 4.0.1 |
kind | resource |
abstract | false |
sdTtype | Observation |
derivation | constraint |
base | http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant |
Usages |
|
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
Observation | Variant | |||
subject | Reference (Oncology Patient) | |||
Slices for derivedFrom | 1 .. | Slice: Unordered, Open by pattern:reference | ||
derivedFrom:Analysis | 1..1 | Reference (Sequencing Analysis) | Analysis from which come this observation | |
component:cytogenetic-location | ||||
component:ref-sequence-assembly | ||||
value[x] | ||||
component:variation-code | ||||
value[x] | ||||
component:copy-number | ||||
value[x] | ||||
component:exact-start-end | ||||
value[x] | ||||
low | ||||
high | ||||
component:variant-length | ||||
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:loss-of-heterozygosity | 0..1 | Is the segment located in a region of loss of heterozygosity ? (can be independant from copy number information | ||
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: C1881449 |
|
value[x] | boolean | |||
component:segment-intensity | 0..1 | Intensity of the measured signal | ||
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: C2732930 |
|
value[x] | integer | |||
Documentation for this format |
Produced 08 Sep 2023