StructureDefinition-copy-number

Sourcearkhn.fhir.uv.osiris#current:FHIR Osiris Implementation Guide (v4.0.1)
resourceTypeStructureDefinition
idcopy-number
canonicalhttps://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/copy-number
version2.1.0
statusdraft
publisherArkhn
nameCopyNumber
titleVariant Copy Number
date2023-08-28T10:50:04+00:00
descriptionObservation 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.
fhirVersion4.0.1
kindresource
abstractfalse
sdTtypeObservation
derivationconstraint
basehttp://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant
Usages
Name Flags Card. Type Description & Constraints doco
. . 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

doco Documentation for this format

Produced 08 Sep 2023