NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation 0..* Variant Variant
... status 1..1 code registered | preliminary | final | amended +
Fixed Value: final
... code
.... coding
..... system 0..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
..... code 0..1 code Symbol in syntax defined by the system
Fixed Value: 69548-6
... subject 1..1 Reference(RareLink IPS Patient) Who and/or what the observation is about
.... reference S 0..1 string Literal reference, Relative, internal or absolute URL
.... identifier S 0..1 Identifier Logical reference, when literal reference is not known
... method
.... coding 0..* Coding Code defined by a terminology system
Binding: Structural Variant Method Value Set (extensible)
... Slices for component Content/Rules for all slices
.... component:genomicHgvs 0..1 BackboneElement Component results
..... code
...... coding
....... system 0..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 0..1 code Symbol in syntax defined by the system
Required Pattern: 81290-9
..... value[x] 0..1 CodeableConcept Actual component result
...... coding
....... system 0..1 uri Identity of the terminology system
Fixed Value: http://varnomen.hgvs.org
.... component:genomicRefSeq 0..1 BackboneElement Component results
..... code
...... coding
....... system 0..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 0..1 code Symbol in syntax defined by the system
Required Pattern: 48013-7
..... value[x] 0..1 CodeableConcept Actual component result
.... component:representativeCodingHgvs 0..1 BackboneElement Component results
..... code
...... coding
....... system 0..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 0..1 code Symbol in syntax defined by the system
Required Pattern: 48004-6
..... value[x] 0..1 CodeableConcept Actual component result
...... coding
....... system 0..1 uri Identity of the terminology system
Fixed Value: http://varnomen.hgvs.org
.... component:representativeTranscriptRefSeq 0..1 BackboneElement Component results
..... code
...... coding
....... system 0..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 0..1 code Symbol in syntax defined by the system
Required Pattern: 51958-7
..... value[x] 0..1 CodeableConcept Actual component result
.... component:representativeProteinHgvs 0..1 BackboneElement Component results
..... code
...... coding
....... system 0..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 0..1 code Symbol in syntax defined by the system
Required Pattern: 48005-3
..... value[x] 0..1 CodeableConcept Actual component result
...... coding
....... system 0..1 uri Identity of the terminology system
Fixed Value: http://varnomen.hgvs.org
.... component:representativeProteinRefSeq 0..1 BackboneElement Component results
..... code
...... coding
....... system 0..1 uri Identity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... code 0..1 code Symbol in syntax defined by the system
Required Pattern: protein-ref-seq
..... value[x] 0..1 CodeableConcept Actual component result
.... component:referenceSequenceAssembly 0..1 BackboneElement Component results
..... code
...... coding
....... system 0..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 0..1 code Symbol in syntax defined by the system
Required Pattern: 62374-4
..... value[x] 0..1 CodeableConcept Actual component result
Binding: Reference Genome Value Set (required)
.... component:geneStudied 0..1 BackboneElement Component results
..... code
...... coding
....... system 0..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 0..1 code Symbol in syntax defined by the system
Required Pattern: 48018-6
..... value[x] 0..1 CodeableConcept Actual component result
...... coding
....... system 0..1 uri Identity of the terminology system
Fixed Value: http://www.genenames.org
.... component:allelicState 0..1 BackboneElement Component results
..... code
...... coding
....... system 0..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 0..1 code Symbol in syntax defined by the system
Required Pattern: 53034-5
..... value[x] 0..1 CodeableConcept Actual component result
Binding: Zygosity Value Set (extensible)
.... component:genomicSourceClass 0..1 BackboneElement Component results
..... code
...... coding
....... system 0..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 0..1 code Symbol in syntax defined by the system
Required Pattern: 48002-0
..... value[x] 0..1 CodeableConcept Actual component result
Binding: Genomic Source Class Value Set (required)
.... component:codingChangeType 0..1 BackboneElement Component results
..... code
...... coding
....... system 0..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 0..1 code Symbol in syntax defined by the system
Required Pattern: 48019-4
..... value[x] 0..1 CodeableConcept Actual component result
Binding: DNA Change Type Value Set (extensible)

doco Documentation for this format