FHIR IG analytics| Package | hl7.fhir.uv.cg-incubator |
| Resource Type | List |
| Id | List-GenomicStudy-examples.json |
| FHIR Version | R6 |
No resources found
No resources found
Note: links and images are rebased to the (stated) source
Generated Narrative: List GenomicStudy-examples
Language: en
| Mode: Working List | Status: Current |
{
"resourceType": "List",
"id": "GenomicStudy-examples",
"language": "en",
"text": {
"status": "generated",
"div": "<!-- snip (see above) -->"
},
"status": "current",
"mode": "working",
"entry": [
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "GenomicStudy - Trio study - De novo mutation 1"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "genomicstudy-example"
}
],
"item": {
"reference": "GenomicStudy/example",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "GenomicStudy - Trio study - De novo mutation 2"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "genomicstudy-example-trio2"
}
],
"item": {
"reference": "GenomicStudy/example-trio2",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "GenomicStudy - Lung mass - sequencing analysis"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "genomicstudy-example-lungMass"
}
],
"item": {
"reference": "GenomicStudy/example-lungMass",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "GenomicStudy - Pharmacogenomics (PGX) panel"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "genomicstudy-example-pgx"
}
],
"item": {
"reference": "GenomicStudy/example-pgx",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "GenomicStudy - Somatic tumor/normal cancer panel"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "genomicstudy-example-somaticStudy"
}
],
"item": {
"reference": "GenomicStudy/example-somaticStudy",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "DocumentReference - CNV Analysis - called"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "DocumentReference-CNVAnalysis_called"
}
],
"item": {
"reference": "DocumentReference/CNVAnalysis-called",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "DocumentReference - Genomic BED File"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "DocumentReference-genomicBEDfile"
}
],
"item": {
"reference": "DocumentReference/genomicBEDfile",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "DocumentReference - Genomic File 1"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "DocumentReference-genomicFile1"
}
],
"item": {
"reference": "DocumentReference/genomicFile1",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "DocumentReference - Genomic File 2"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "DocumentReference-genomicFile2"
}
],
"item": {
"reference": "DocumentReference/genomicFile2",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "DocumentReference - Genomic File 3"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "DocumentReference-genomicFile3"
}
],
"item": {
"reference": "DocumentReference/genomicFile3",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "DocumentReference - Genomic File 4"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "DocumentReference-genomicFile4"
}
],
"item": {
"reference": "DocumentReference/genomicFile4",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "DocumentReference - Genomic VCF File - CNV"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "DocumentReference-genomicVCFfile_cnv"
}
],
"item": {
"reference": "DocumentReference/genomicVCFfile-cnv",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "DocumentReference - Genomic VCF File - Simple"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "DocumentReference-genomicVCFfile_simple"
}
],
"item": {
"reference": "DocumentReference/genomicVCFfile-simple",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "DocumentReference - Genomic VCF File"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "DocumentReference-genomicVCFfile"
}
],
"item": {
"reference": "DocumentReference/genomicVCFfile",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "DocumentReference - Simple Variant Analysis - Called"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "DocumentReference-SimpleVariantAnalysis_called"
}
],
"item": {
"reference": "DocumentReference/SimpleVariantAnalysis-called",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "DocumentReference - WES Full Sequenced Region - GRCh38"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "DocumentReference-WES_FullSequencedRegion_GRCh38"
}
],
"item": {
"reference": "DocumentReference/WES-FullSequencedRegion-GRCh38",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "DocumentReference - Genomic File of a Proband"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "DocumentReference-genomicFileProband"
}
],
"item": {
"reference": "DocumentReference/genomicFileProband",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "DocumentReference - Genomic File of a Mother"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "DocumentReference-genomicFileMother"
}
],
"item": {
"reference": "DocumentReference/genomicFileMother",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "DocumentReference - Genomic File of a Father"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "DocumentReference-genomicFileFather"
}
],
"item": {
"reference": "DocumentReference/genomicFileFather",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "DocumentReference - Genomic File of a Trio: proband, mother, and father"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "DocumentReference-genomicFileGroupAsSubject"
}
],
"item": {
"reference": "DocumentReference/genomicFileGroupAsSubject",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "Device - NGS Device"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "Device-NGS-device"
}
],
"item": {
"reference": "Device/NGS-device",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "Device - Triodenovo (Software)"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "Device-Triodenovo-SW"
}
],
"item": {
"reference": "Device/Triodenovo-SW",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "Encounter - denovo"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "Encounter-denovoEncounter"
}
],
"item": {
"reference": "Encounter/denovoEncounter",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "Encounter - genomic"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "Encounter-genomicEncounter"
}
],
"item": {
"reference": "Encounter/genomicEncounter",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "Group - A group of a trio study including proband, mother, and father"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "Group-denovoFamily"
}
],
"item": {
"reference": "Group/groupDenovoFamily",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "Patient - denovoChild"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "Patient-denovoChild"
}
],
"item": {
"reference": "Patient/denovoChild",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "Patient - denovoFather"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "Patient-denovoFather"
}
],
"item": {
"reference": "Patient/denovoFather",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "Patient - denovoMother"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "Patient-denovoMother"
}
],
"item": {
"reference": "Patient/denovoMother",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "Patient - Genomic"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "Patient-genomicPatient"
}
],
"item": {
"reference": "Patient/genomicPatient",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "Practitioner - Example 1"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "Practitioner-practitioner01"
}
],
"item": {
"reference": "Practitioner/practitioner01",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "Practitioner - Example 2"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "Practitioner-practitioner02"
}
],
"item": {
"reference": "Practitioner/practitioner02",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "RelatedPerson - a proband's mother"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "RelatedPerson-denovoMother"
}
],
"item": {
"reference": "RelatedPerson/relatedPersonDenovoMother",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "RelatedPerson - a proband's father"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "RelatedPerson-denovoFather"
}
],
"item": {
"reference": "RelatedPerson/relatedPersonDenovoFather",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "ServiceRequest - Genomic Example"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "ServiceRequest-genomicServiceRequest"
}
],
"item": {
"reference": "ServiceRequest/genomicServiceRequest",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "ServiceRequest - Genomic Example 2"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "ServiceRequest-genomicServiceRequest2"
}
],
"item": {
"reference": "ServiceRequest/genomicServiceRequest2",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "ServiceRequest - Genomic Example 3"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "ServiceRequest-genomicServiceRequest3"
}
],
"item": {
"reference": "ServiceRequest/genomicServiceRequest3",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "ServiceRequest - Genomic Example 4"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "ServiceRequest-genomicServiceRequest4"
}
],
"item": {
"reference": "ServiceRequest/genomicServiceRequest4",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "ServiceRequest - Genomic service request that references a proband as a subject"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "ServiceRequest-genomicSRProband"
}
],
"item": {
"reference": "ServiceRequest/genomicSRProband",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "ServiceRequest - Genomic service request that references a proband's mother as a subject"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "ServiceRequest-genomicSRMother"
}
],
"item": {
"reference": "ServiceRequest/genomicSRMother",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "ServiceRequest - Genomic service request that references a proband's father as a subject"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "ServiceRequest-genomicSRFather"
}
],
"item": {
"reference": "ServiceRequest/genomicSRFather",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "Specimen - Denovo 1"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "Specimen-denovo-1"
}
],
"item": {
"reference": "Specimen/denovo-1",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "Specimen - Denovo 2"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "Specimen-denovo-2"
}
],
"item": {
"reference": "Specimen/denovo-2",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "Specimen - Denovo 3"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "Specimen-denovo-3"
}
],
"item": {
"reference": "Specimen/denovo-3",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "Specimen of a Proband as a subject"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "Specimen-specimenProband"
}
],
"item": {
"reference": "Specimen/specimenProband",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "Specimen of a proband's mother as a subject"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "Specimen-specimenMother"
}
],
"item": {
"reference": "Specimen/specimenMother",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "Specimen of a proband's father as a subject"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "Specimen-specimenFather"
}
],
"item": {
"reference": "Specimen/specimenFather",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "Specimen - Genomic"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "Specimen-genomicSpecimen"
}
],
"item": {
"reference": "Specimen/genomicSpecimen",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "Patient - PGX Patient (Adam B. Everyman)"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "Patient-pgxPatient"
}
],
"item": {
"reference": "Patient/pgxPatient",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "Specimen - PGX blood specimen"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "Specimen-pgxSpecimen"
}
],
"item": {
"reference": "Specimen/pgxSpecimen",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "ServiceRequest - PGX panel service request"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "ServiceRequest-pgxServiceRequest"
}
],
"item": {
"reference": "ServiceRequest/pgxServiceRequest",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "DocumentReference - PGX VCF output file"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "DocumentReference-pgxVCFfile"
}
],
"item": {
"reference": "DocumentReference/pgxVCFfile",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "Patient - Somatic cancer patient (Junior Hamsburg)"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "Patient-somaticPatient"
}
],
"item": {
"reference": "Patient/somaticPatient",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "Specimen - Tumor biopsy (FFPE lung)"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "Specimen-tumorSpecimen"
}
],
"item": {
"reference": "Specimen/tumorSpecimen",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "Specimen - Matched normal blood specimen"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "Specimen-normalSpecimen"
}
],
"item": {
"reference": "Specimen/normalSpecimen",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "ServiceRequest - Somatic cancer panel service request"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "ServiceRequest-somaticServiceRequest"
}
],
"item": {
"reference": "ServiceRequest/somaticServiceRequest",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "DocumentReference - Somatic DNA VCF output file"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "DocumentReference-somaticVCFfile"
}
],
"item": {
"reference": "DocumentReference/somaticVCFfile",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "DocumentReference - Somatic called regions BED file"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "DocumentReference-somaticCalledRegions"
}
],
"item": {
"reference": "DocumentReference/somaticCalledRegions",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "DocumentReference - Somatic RNA studied regions BED file"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "DocumentReference-somaticRNAstudiedRegions"
}
],
"item": {
"reference": "DocumentReference/somaticRNAstudiedRegions",
"display": "General"
}
},
{
"extension": [
{
"url": "http://hl7.org/fhir/build/StructureDefinition/description",
"valueString": "DocumentReference - Somatic RNA fusions/transcript variants VCF"
},
{
"url": "http://hl7.org/fhir/build/StructureDefinition/title",
"valueString": "DocumentReference-somaticFusionFile"
}
],
"item": {
"reference": "DocumentReference/somaticFusionFile",
"display": "General"
}
}
]
}