Generated Narrative: StructureDefinition rarelink-genetic-variant
| Name | Flags | Card. | Type | Description & Constraints |
|---|---|---|---|---|
  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) | |
| Documentation for this format | ||||