{ "resourceType": "DiagnosticReport", "id": "dr-ee74cbd3266c4", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnosticreport" ] }, "contained": [ { "resourceType": "Observation", "id": "rs-e83fc35689734", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-region-studied" ] }, "status": "final", "category": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/observation-category", "code": "laboratory" } ] }, "code": { "coding": [ { "system": "http://loinc.org", "code": "53041-0", "display": "DNA region of interest panel" } ] }, "subject": { "reference": "Patient/HG00403" }, "component": [ { "code": { "coding": [ { "system": "http://loinc.org", "code": "51959-5", "display": "Range(s) of DNA sequence examined" } ] }, "valueRange": { "low": { "value": 64569985 }, "high": { "value": 64579766 } } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "tbd-coordinate system", "display": "Genomic coordinate system" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genetic-coordinate-system", "code": "1" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "48013-7", "display": "Genomic reference sequence ID" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", "code": "NC_000011.9" } ] } } ] }, { "resourceType": "Observation", "id": "dv-e0aafacbc8b04", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-variant" ] }, "status": "final", "category": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/observation-category", "code": "laboratory" } ] }, "code": { "coding": [ { "system": "http://loinc.org", "code": "69548-6", "display": "Genetic variant assessment" } ] }, "subject": { "reference": "Patient/HG00403" }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA9633-4", "display": "Present" } ] }, "component": [ { "code": { "coding": [ { "system": "http://loinc.org", "code": "62374-4", "display": "Human reference sequence assembly version" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA14029-5", "display": "GRCh37" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "48013-7", "display": "Genomic reference sequence ID" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", "code": "NC_000011.9" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "53034-5", "display": "Allelic state" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA6706-1", "display": "heterozygous" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69547-8", "display": "Genomic Ref allele" } ] }, "valueString": "G" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69551-0", "display": "Genomic Alt allele" } ] }, "valueString": "A" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "tbd-coordinate system", "display": "Genomic coordinate system" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genetic-coordinate-system", "code": "1" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "81254-5", "display": "Genomic Allele start-end" } ] }, "valueRange": { "low": { "value": 64571621 } } } ] }, { "resourceType": "Observation", "id": "dv-ee1079e9d80d4", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-variant" ] }, "status": "final", "category": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/observation-category", "code": "laboratory" } ] }, "code": { "coding": [ { "system": "http://loinc.org", "code": "69548-6", "display": "Genetic variant assessment" } ] }, "subject": { "reference": "Patient/HG00403" }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA9633-4", "display": "Present" } ] }, "component": [ { "code": { "coding": [ { "system": "http://loinc.org", "code": "62374-4", "display": "Human reference sequence assembly version" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA14029-5", "display": "GRCh37" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "48013-7", "display": "Genomic reference sequence ID" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", "code": "NC_000011.9" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "53034-5", "display": "Allelic state" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA6705-3", "display": "homozygous" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69547-8", "display": "Genomic Ref allele" } ] }, "valueString": "T" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69551-0", "display": "Genomic Alt allele" } ] }, "valueString": "C" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "tbd-coordinate system", "display": "Genomic coordinate system" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genetic-coordinate-system", "code": "1" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "81254-5", "display": "Genomic Allele start-end" } ] }, "valueRange": { "low": { "value": 64572018 } } } ] }, { "resourceType": "Observation", "id": "dv-d95e8e5035dd4", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-variant" ] }, "status": "final", "category": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/observation-category", "code": "laboratory" } ] }, "code": { "coding": [ { "system": "http://loinc.org", "code": "69548-6", "display": "Genetic variant assessment" } ] }, "subject": { "reference": "Patient/HG00403" }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA9633-4", "display": "Present" } ] }, "component": [ { "code": { "coding": [ { "system": "http://loinc.org", "code": "62374-4", "display": "Human reference sequence assembly version" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA14029-5", "display": "GRCh37" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "48013-7", "display": "Genomic reference sequence ID" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", "code": "NC_000011.9" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "53034-5", "display": "Allelic state" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA6705-3", "display": "homozygous" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69547-8", "display": "Genomic Ref allele" } ] }, "valueString": "A" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69551-0", "display": "Genomic Alt allele" } ] }, "valueString": "G" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "tbd-coordinate system", "display": "Genomic coordinate system" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genetic-coordinate-system", "code": "1" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "81254-5", "display": "Genomic Allele start-end" } ] }, "valueRange": { "low": { "value": 64572557 } } } ] }, { "resourceType": "Observation", "id": "dv-b07598db4a4c4", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-variant" ] }, "status": "final", "category": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/observation-category", "code": "laboratory" } ] }, "code": { "coding": [ { "system": "http://loinc.org", "code": "69548-6", "display": "Genetic variant assessment" } ] }, "subject": { "reference": "Patient/HG00403" }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA9633-4", "display": "Present" } ] }, "component": [ { "code": { "coding": [ { "system": "http://loinc.org", "code": "62374-4", "display": "Human reference sequence assembly version" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA14029-5", "display": "GRCh37" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "48013-7", "display": "Genomic reference sequence ID" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", "code": "NC_000011.9" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "53034-5", "display": "Allelic state" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA6706-1", "display": "heterozygous" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69547-8", "display": "Genomic Ref allele" } ] }, "valueString": "G" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69551-0", "display": "Genomic Alt allele" } ] }, "valueString": "A" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "tbd-coordinate system", "display": "Genomic coordinate system" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genetic-coordinate-system", "code": "1" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "81254-5", "display": "Genomic Allele start-end" } ] }, "valueRange": { "low": { "value": 64572602 } } } ] }, { "resourceType": "Observation", "id": "dv-9a71801d6b044", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-variant" ] }, "status": "final", "category": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/observation-category", "code": "laboratory" } ] }, "code": { "coding": [ { "system": "http://loinc.org", "code": "69548-6", "display": "Genetic variant assessment" } ] }, "subject": { "reference": "Patient/HG00403" }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA9633-4", "display": "Present" } ] }, "component": [ { "code": { "coding": [ { "system": "http://loinc.org", "code": "62374-4", "display": "Human reference sequence assembly version" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA14029-5", "display": "GRCh37" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "48013-7", "display": "Genomic reference sequence ID" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", "code": "NC_000011.9" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "53034-5", "display": "Allelic state" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA6706-1", "display": "heterozygous" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69547-8", "display": "Genomic Ref allele" } ] }, "valueString": "C" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69551-0", "display": "Genomic Alt allele" } ] }, "valueString": "T" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "tbd-coordinate system", "display": "Genomic coordinate system" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genetic-coordinate-system", "code": "1" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "81254-5", "display": "Genomic Allele start-end" } ] }, "valueRange": { "low": { "value": 64572604 } } } ] }, { "resourceType": "Observation", "id": "dv-209b8828b9c44", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-variant" ] }, "status": "final", "category": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/observation-category", "code": "laboratory" } ] }, "code": { "coding": [ { "system": "http://loinc.org", "code": "69548-6", "display": "Genetic variant assessment" } ] }, "subject": { "reference": "Patient/HG00403" }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA9633-4", "display": "Present" } ] }, "component": [ { "code": { "coding": [ { "system": "http://loinc.org", "code": "62374-4", "display": "Human reference sequence assembly version" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA14029-5", "display": "GRCh37" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "48013-7", "display": "Genomic reference sequence ID" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", "code": "NC_000011.9" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "53034-5", "display": "Allelic state" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA6706-1", "display": "heterozygous" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69547-8", "display": "Genomic Ref allele" } ] }, "valueString": "TTCA" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69551-0", "display": "Genomic Alt allele" } ] }, "valueString": "T" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "tbd-coordinate system", "display": "Genomic coordinate system" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genetic-coordinate-system", "code": "1" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "81254-5", "display": "Genomic Allele start-end" } ] }, "valueRange": { "low": { "value": 64574185 } } } ] }, { "resourceType": "Observation", "id": "dv-3eafcf50612c4", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-variant" ] }, "status": "final", "category": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/observation-category", "code": "laboratory" } ] }, "code": { "coding": [ { "system": "http://loinc.org", "code": "69548-6", "display": "Genetic variant assessment" } ] }, "subject": { "reference": "Patient/HG00403" }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA9633-4", "display": "Present" } ] }, "component": [ { "code": { "coding": [ { "system": "http://loinc.org", "code": "62374-4", "display": "Human reference sequence assembly version" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA14029-5", "display": "GRCh37" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "48013-7", "display": "Genomic reference sequence ID" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", "code": "NC_000011.9" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "53034-5", "display": "Allelic state" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA6705-3", "display": "homozygous" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69547-8", "display": "Genomic Ref allele" } ] }, "valueString": "G" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69551-0", "display": "Genomic Alt allele" } ] }, "valueString": "A" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "tbd-coordinate system", "display": "Genomic coordinate system" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genetic-coordinate-system", "code": "1" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "81254-5", "display": "Genomic Allele start-end" } ] }, "valueRange": { "low": { "value": 64574200 } } } ] }, { "resourceType": "Observation", "id": "dv-67153ce498614", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-variant" ] }, "status": "final", "category": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/observation-category", "code": "laboratory" } ] }, "code": { "coding": [ { "system": "http://loinc.org", "code": "69548-6", "display": "Genetic variant assessment" } ] }, "subject": { "reference": "Patient/HG00403" }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA9633-4", "display": "Present" } ] }, "component": [ { "code": { "coding": [ { "system": "http://loinc.org", "code": "62374-4", "display": "Human reference sequence assembly version" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA14029-5", "display": "GRCh37" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "48013-7", "display": "Genomic reference sequence ID" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", "code": "NC_000011.9" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "53034-5", "display": "Allelic state" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA6706-1", "display": "heterozygous" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69547-8", "display": "Genomic Ref allele" } ] }, "valueString": "GA" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69551-0", "display": "Genomic Alt allele" } ] }, "valueString": "G" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "tbd-coordinate system", "display": "Genomic coordinate system" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genetic-coordinate-system", "code": "1" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "81254-5", "display": "Genomic Allele start-end" } ] }, "valueRange": { "low": { "value": 64576426 } } } ] }, { "resourceType": "Observation", "id": "dv-db2fff834c8a4", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-variant" ] }, "status": "final", "category": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/observation-category", "code": "laboratory" } ] }, "code": { "coding": [ { "system": "http://loinc.org", "code": "69548-6", "display": "Genetic variant assessment" } ] }, "subject": { "reference": "Patient/HG00403" }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA9633-4", "display": "Present" } ] }, "component": [ { "code": { "coding": [ { "system": "http://loinc.org", "code": "62374-4", "display": "Human reference sequence assembly version" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA14029-5", "display": "GRCh37" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "48013-7", "display": "Genomic reference sequence ID" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", "code": "NC_000011.9" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "53034-5", "display": "Allelic state" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA6706-1", "display": "heterozygous" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69547-8", "display": "Genomic Ref allele" } ] }, "valueString": "C" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69551-0", "display": "Genomic Alt allele" } ] }, "valueString": "CA" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "tbd-coordinate system", "display": "Genomic coordinate system" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genetic-coordinate-system", "code": "1" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "81254-5", "display": "Genomic Allele start-end" } ] }, "valueRange": { "low": { "value": 64576735 } } } ] }, { "resourceType": "Observation", "id": "dv-6e9ec62771274", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-variant" ] }, "status": "final", "category": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/observation-category", "code": "laboratory" } ] }, "code": { "coding": [ { "system": "http://loinc.org", "code": "69548-6", "display": "Genetic variant assessment" } ] }, "subject": { "reference": "Patient/HG00403" }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA9633-4", "display": "Present" } ] }, "component": [ { "code": { "coding": [ { "system": "http://loinc.org", "code": "62374-4", "display": "Human reference sequence assembly version" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA14029-5", "display": "GRCh37" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "48013-7", "display": "Genomic reference sequence ID" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", "code": "NC_000011.9" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "53034-5", "display": "Allelic state" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA6706-1", "display": "heterozygous" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69547-8", "display": "Genomic Ref allele" } ] }, "valueString": "A" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69551-0", "display": "Genomic Alt allele" } ] }, "valueString": "G" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "tbd-coordinate system", "display": "Genomic coordinate system" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genetic-coordinate-system", "code": "1" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "81254-5", "display": "Genomic Allele start-end" } ] }, "valueRange": { "low": { "value": 64578620 } } } ] }, { "resourceType": "Observation", "id": "dv-0bf8982c0eea4", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-variant" ] }, "status": "final", "category": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/observation-category", "code": "laboratory" } ] }, "code": { "coding": [ { "system": "http://loinc.org", "code": "69548-6", "display": "Genetic variant assessment" } ] }, "subject": { "reference": "Patient/HG00403" }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA9633-4", "display": "Present" } ] }, "component": [ { "code": { "coding": [ { "system": "http://loinc.org", "code": "62374-4", "display": "Human reference sequence assembly version" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA14029-5", "display": "GRCh37" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "48013-7", "display": "Genomic reference sequence ID" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", "code": "NC_000011.9" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "53034-5", "display": "Allelic state" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA6706-1", "display": "heterozygous" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69547-8", "display": "Genomic Ref allele" } ] }, "valueString": "C" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69551-0", "display": "Genomic Alt allele" } ] }, "valueString": "G" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "tbd-coordinate system", "display": "Genomic coordinate system" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genetic-coordinate-system", "code": "1" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "81254-5", "display": "Genomic Allele start-end" } ] }, "valueRange": { "low": { "value": 64578650 } } } ] }, { "resourceType": "Observation", "id": "dv-eacd863c544f4", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-variant" ] }, "status": "final", "category": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/observation-category", "code": "laboratory" } ] }, "code": { "coding": [ { "system": "http://loinc.org", "code": "69548-6", "display": "Genetic variant assessment" } ] }, "subject": { "reference": "Patient/HG00403" }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA9633-4", "display": "Present" } ] }, "component": [ { "code": { "coding": [ { "system": "http://loinc.org", "code": "62374-4", "display": "Human reference sequence assembly version" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA14029-5", "display": "GRCh37" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "48013-7", "display": "Genomic reference sequence ID" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", "code": "NC_000011.9" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "53034-5", "display": "Allelic state" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA6706-1", "display": "heterozygous" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69547-8", "display": "Genomic Ref allele" } ] }, "valueString": "G" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69551-0", "display": "Genomic Alt allele" } ] }, "valueString": "A" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "tbd-coordinate system", "display": "Genomic coordinate system" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genetic-coordinate-system", "code": "1" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "81254-5", "display": "Genomic Allele start-end" } ] }, "valueRange": { "low": { "value": 64578922 } } } ] }, { "resourceType": "Observation", "id": "dv-209f2d86441d4", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-variant" ] }, "status": "final", "category": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/observation-category", "code": "laboratory" } ] }, "code": { "coding": [ { "system": "http://loinc.org", "code": "69548-6", "display": "Genetic variant assessment" } ] }, "subject": { "reference": "Patient/HG00403" }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA9633-4", "display": "Present" } ] }, "component": [ { "code": { "coding": [ { "system": "http://loinc.org", "code": "62374-4", "display": "Human reference sequence assembly version" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA14029-5", "display": "GRCh37" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "48013-7", "display": "Genomic reference sequence ID" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", "code": "NC_000011.9" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "53034-5", "display": "Allelic state" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA6706-1", "display": "heterozygous" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69547-8", "display": "Genomic Ref allele" } ] }, "valueString": "T" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69551-0", "display": "Genomic Alt allele" } ] }, "valueString": "C" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "tbd-coordinate system", "display": "Genomic coordinate system" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genetic-coordinate-system", "code": "1" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "81254-5", "display": "Genomic Allele start-end" } ] }, "valueRange": { "low": { "value": 64579023 } } } ] }, { "resourceType": "Observation", "id": "dv-5434c19958604", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-variant" ] }, "status": "final", "category": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/observation-category", "code": "laboratory" } ] }, "code": { "coding": [ { "system": "http://loinc.org", "code": "69548-6", "display": "Genetic variant assessment" } ] }, "subject": { "reference": "Patient/HG00403" }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA9633-4", "display": "Present" } ] }, "component": [ { "code": { "coding": [ { "system": "http://loinc.org", "code": "62374-4", "display": "Human reference sequence assembly version" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA14029-5", "display": "GRCh37" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "48013-7", "display": "Genomic reference sequence ID" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", "code": "NC_000011.9" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "53034-5", "display": "Allelic state" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA6706-1", "display": "heterozygous" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69547-8", "display": "Genomic Ref allele" } ] }, "valueString": "G" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69551-0", "display": "Genomic Alt allele" } ] }, "valueString": "A" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "tbd-coordinate system", "display": "Genomic coordinate system" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genetic-coordinate-system", "code": "1" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "81254-5", "display": "Genomic Allele start-end" } ] }, "valueRange": { "low": { "value": 64579243 } } } ] }, { "resourceType": "Observation", "id": "dv-94c8ae1c6dfe4", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-variant" ] }, "status": "final", "category": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/observation-category", "code": "laboratory" } ] }, "code": { "coding": [ { "system": "http://loinc.org", "code": "69548-6", "display": "Genetic variant assessment" } ] }, "subject": { "reference": "Patient/HG00403" }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA9633-4", "display": "Present" } ] }, "component": [ { "code": { "coding": [ { "system": "http://loinc.org", "code": "62374-4", "display": "Human reference sequence assembly version" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA14029-5", "display": "GRCh37" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "48013-7", "display": "Genomic reference sequence ID" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://www.ncbi.nlm.nih.gov/nuccore", "code": "NC_000011.9" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "53034-5", "display": "Allelic state" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "LA6706-1", "display": "heterozygous" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69547-8", "display": "Genomic Ref allele" } ] }, "valueString": "C" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "69551-0", "display": "Genomic Alt allele" } ] }, "valueString": "T" }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "tbd-coordinate system", "display": "Genomic coordinate system" } ] }, "valueCodeableConcept": { "coding": [ { "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genetic-coordinate-system", "code": "1" } ] } }, { "code": { "coding": [ { "system": "http://loinc.org", "code": "81254-5", "display": "Genomic Allele start-end" } ] }, "valueRange": { "low": { "value": 64579756 } } } ] }, { "resourceType": "Observation", "id": "sid-f51b1048f1f04", "meta": { "profile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-sequence-phase-reltn" ] }, "status": "final", "category": { "coding": [ { "system": "http://terminology.hl7.org/CodeSystem/observation-category", "code": "laboratory" } ] }, "code": { "coding": [ { "system": "http://loinc.org", "code": "82120-7", "display": "Sequence phase relationship" } ] }, "subject": { "reference": "Patient/HG00403" }, "valueCodeableConcept": { "coding": [ { "system": "http://loinc.org", "code": "TBD-cisTrans", "display": "Trans" } ] } } ], "status": "final", "code": { "coding": [ { "system": "http://loinc.org", "code": "51969-4", "display": "Genetic analysis report" } ] }, "subject": { "reference": "Patient/HG00403" }, "issued": "2019-09-27T18:58:08+00:00", "result": [ { "reference": "#rs-e83fc35689734" }, { "reference": "#dv-e0aafacbc8b04" }, { "reference": "#dv-ee1079e9d80d4" }, { "reference": "#dv-d95e8e5035dd4" }, { "reference": "#dv-b07598db4a4c4" }, { "reference": "#dv-9a71801d6b044" }, { "reference": "#dv-209b8828b9c44" }, { "reference": "#dv-3eafcf50612c4" }, { "reference": "#dv-67153ce498614" }, { "reference": "#dv-db2fff834c8a4" }, { "reference": "#dv-6e9ec62771274" }, { "reference": "#dv-0bf8982c0eea4" }, { "reference": "#dv-eacd863c544f4" }, { "reference": "#dv-209f2d86441d4" }, { "reference": "#dv-5434c19958604" }, { "reference": "#dv-94c8ae1c6dfe4" }, { "reference": "#sid-f51b1048f1f04" } ] }