This is the Continuous Integration Build of FHIR (will be incorrect/inconsistent at times).
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Clinical Genomics icon Work GroupMaturity Level: N/AStandards Status: InformativeSecurity Category: Patient Compartments: Patient
Example NameidFormat
GenomicStudy - Trio study - De novo mutation 1exampleXMLJSONTurtle
GenomicStudy - Trio study - De novo mutation 2example-trio2XMLJSONTurtle
GenomicStudy - Lung mass - sequencing analysisexample-lungMassXMLJSONTurtle
DocumentReference - CNV Analysis - calledCNVAnalysis-calledXMLJSONTurtle
DocumentReference - Genomic BED FilegenomicBEDfileXMLJSONTurtle
DocumentReference - Genomic File 1genomicFile1XMLJSONTurtle
DocumentReference - Genomic File 2genomicFile2XMLJSONTurtle
DocumentReference - Genomic File 3genomicFile3XMLJSONTurtle
DocumentReference - Genomic File 4genomicFile4XMLJSONTurtle
DocumentReference - Genomic VCF File - CNVgenomicVCFfile-cnvXMLJSONTurtle
DocumentReference - Genomic VCF File - SimplegenomicVCFfile-simpleXMLJSONTurtle
DocumentReference - Genomic VCF FilegenomicVCFfileXMLJSONTurtle
DocumentReference - Simple Variant Analysis - CalledSimpleVariantAnalysis-calledXMLJSONTurtle
DocumentReference - WES Full Sequenced Region - GRCh38WES-FullSequencedRegion-GRCh38XMLJSONTurtle
DocumentReference - Genomic File of a ProbandgenomicFileProbandXMLJSONTurtle
DocumentReference - Genomic File of a MothergenomicFileMotherXMLJSONTurtle
DocumentReference - Genomic File of a FathergenomicFileFatherXMLJSONTurtle
DocumentReference - Genomic File of a Trio: proband, mother, and fathergenomicFileGroupAsSubjectXMLJSONTurtle
Device - NGS DeviceNGS-deviceXMLJSONTurtle
Device - Triodenovo (Software)Triodenovo-SWXMLJSONTurtle
Encounter - denovodenovoEncounterXMLJSONTurtle
Encounter - genomicgenomicEncounterXMLJSONTurtle
Group - A group of a trio study including proband, mother, and fathergroupDenovoFamilyXMLJSONTurtle
Patient - denovoChilddenovoChildXMLJSONTurtle
Patient - denovoFatherdenovoFatherXMLJSONTurtle
Patient - denovoMotherdenovoMotherXMLJSONTurtle
Patient - GenomicgenomicPatientXMLJSONTurtle
Practitioner - Example 1practitioner01XMLJSONTurtle
Practitioner - Example 2practitioner02XMLJSONTurtle
RelatedPerson - a proband's motherrelatedPersonDenovoMotherXMLJSONTurtle
RelatedPerson - a proband's fatherrelatedPersonDenovoFatherXMLJSONTurtle
ServiceRequest - Genomic ExamplegenomicServiceRequestXMLJSONTurtle
ServiceRequest - Genomic Example 2genomicServiceRequest2XMLJSONTurtle
ServiceRequest - Genomic Example 3genomicServiceRequest3XMLJSONTurtle
ServiceRequest - Genomic Example 4genomicServiceRequest4XMLJSONTurtle
ServiceRequest - Genomic service request that references a proband as a subjectgenomicSRProbandXMLJSONTurtle
ServiceRequest - Genomic service request that references a proband's mother as a subjectgenomicSRMotherXMLJSONTurtle
ServiceRequest - Genomic service request that references a proband's father as a subjectgenomicSRFatherXMLJSONTurtle
Specimen - Denovo 1denovo-1XMLJSONTurtle
Specimen - Denovo 2denovo-2XMLJSONTurtle
Specimen - Denovo 3denovo-3XMLJSONTurtle
Specimen of a Proband as a subjectspecimenProbandXMLJSONTurtle
Specimen of a proband's mother as a subjectspecimenMotherXMLJSONTurtle
Specimen of a proband's father as a subjectspecimenFatherXMLJSONTurtle
Specimen - GenomicgenomicSpecimenXMLJSONTurtle

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.