Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build
Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build
Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions
@prefix fhir: <http://hl7.org/fhir/> . @prefix loinc: <http://loinc.org/rdf#> . @prefix owl: <http://www.w3.org/2002/07/owl#> . @prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> . @prefix xsd: <http://www.w3.org/2001/XMLSchema#> . # - resource ------------------------------------------------------------------- <http://hl7.org/fhir/Bundle/bundle-sequence-phase-relation-CYP2C19> a fhir:Bundle ; fhir:nodeRole fhir:treeRoot ; fhir:Resource.id [ fhir:value "bundle-sequence-phase-relation-CYP2C19"] ; fhir:Bundle.type [ fhir:value "transaction"] ; fhir:Bundle.entry [ fhir:index 0 ; fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe60" ] ; fhir:Bundle.entry.resource <urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe60> ; fhir:Bundle.entry.request [ fhir:Bundle.entry.request.method [ fhir:value "POST" ] ; fhir:Bundle.entry.request.url [ fhir:value "Observation" ] ] ], [ fhir:index 1 ; fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:20ac0aeb-6bd4-4e92-a891-d44a807bfe01" ] ; fhir:Bundle.entry.resource <urn:uuid:20ac0aeb-6bd4-4e92-a891-d44a807bfe01> ; fhir:Bundle.entry.request [ fhir:Bundle.entry.request.method [ fhir:value "POST" ] ; fhir:Bundle.entry.request.url [ fhir:value "Observation" ] ] ], [ fhir:index 2 ; fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:20ac0aeb-6bd4-4e92-a891-d44a807bfe02" ] ; fhir:Bundle.entry.resource <urn:uuid:20ac0aeb-6bd4-4e92-a891-d44a807bfe02> ; fhir:Bundle.entry.request [ fhir:Bundle.entry.request.method [ fhir:value "POST" ] ; fhir:Bundle.entry.request.url [ fhir:value "Observation" ] ] ], [ fhir:index 3 ; fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:20ac0aeb-6bd4-4e92-a891-d44a807bfe03" ] ; fhir:Bundle.entry.resource <urn:uuid:20ac0aeb-6bd4-4e92-a891-d44a807bfe03> ; fhir:Bundle.entry.request [ fhir:Bundle.entry.request.method [ fhir:value "POST" ] ; fhir:Bundle.entry.request.url [ fhir:value "DiagnosticReport" ] ] ], [ fhir:index 4 ; fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab" ] ; fhir:Bundle.entry.resource <urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab> ; fhir:Bundle.entry.request [ fhir:Bundle.entry.request.method [ fhir:value "POST" ] ; fhir:Bundle.entry.request.url [ fhir:value "Organization" ] ] ], [ fhir:index 5 ; fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac" ] ; fhir:Bundle.entry.resource <urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac> ; fhir:Bundle.entry.request [ fhir:Bundle.entry.request.method [ fhir:value "POST" ] ; fhir:Bundle.entry.request.url [ fhir:value "Patient" ] ] ] . <urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe60> a fhir:Observation ; fhir:Resource.id [ fhir:value "dv-5c7e9e1ca8252"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" ; fhir:index 0 ; fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant> ] ] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_dv-5c7e9e1ca8252\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation dv-5c7e9e1ca8252</b></p><a name=\"dv-5c7e9e1ca8252\"> </a><a name=\"hcdv-5c7e9e1ca8252\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-variant.html\">Variant</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Bundle-bundle-CYP2C19.html#urn-uuid-19ac0aeb-6bd4-4e92-a891-d44a807bfeac\">John Storm(official) Male, DoB: 1986-12-31</a></p><p><b>effective</b>: 2019-03-05</p><p><b>issued</b>: 2019-03-05 16:04:44+0000</p><p><b>performer</b>: <a href=\"Bundle-bundle-CYP2C19.html#urn-uuid-19ac0aeb-6bd4-4e92-a891-d44a807bfeab\">Organization aTypingLab Inc</a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 62374-4}\">Human reference sequence assembly version</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA14029-5}\">GRCh37</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48013-7}\">Genomic reference sequence ID</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NC_000010.10}\">NC_000010.10</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53034-5}\">Allelic state</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6706-1}\">heterozygous</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69547-8}\">Ref nucleotide</span></p><p><b>value</b>: C</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69551-0}\">Alt allele</span></p><p><b>value</b>: A</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 92822-6}\">Genomic coord system</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA30102-0}\">1-based character counting</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81254-5}\">Genomic allele start-end</span></p><p><b>value</b>: 96527334-?</p></blockquote></div>" ] ; fhir:Observation.status [ fhir:value "final"] ; fhir:Observation.category [ fhir:index 0 ; fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ] ; fhir:Coding.code [ fhir:value "laboratory" ] ] ], [ fhir:index 1 ; fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ] ; fhir:Coding.code [ fhir:value "GE" ] ] ] ; fhir:Observation.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:69548-6 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "69548-6" ] ; fhir:Coding.display [ fhir:value "Genetic variant assessment" ] ] ] ; fhir:Observation.subject [ fhir:Reference.reference [ fhir:value "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac" ] ] ; fhir:Observation.effectiveDateTime [ fhir:value "2019-03-05"^^xsd:date] ; fhir:Observation.issued [ fhir:value "2019-03-05T16:04:44+00:00"^^xsd:dateTime] ; fhir:Observation.performer [ fhir:index 0 ; fhir:Reference.reference [ fhir:value "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab" ] ] ; fhir:Observation.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA9633-4 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA9633-4" ] ; fhir:Coding.display [ fhir:value "Present" ] ] ] ; fhir:Observation.component [ fhir:index 0 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:62374-4 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "62374-4" ] ; fhir:Coding.display [ fhir:value "Human reference sequence assembly version" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA14029-5 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA14029-5" ] ; fhir:Coding.display [ fhir:value "GRCh37" ] ] ] ], [ fhir:index 1 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:48013-7 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "48013-7" ] ; fhir:Coding.display [ fhir:value "Genomic reference sequence ID" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/refseq" ] ; fhir:Coding.code [ fhir:value "NC_000010.10" ] ] ] ], [ fhir:index 2 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:53034-5 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "53034-5" ] ; fhir:Coding.display [ fhir:value "Allelic state" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA6706-1 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA6706-1" ] ; fhir:Coding.display [ fhir:value "heterozygous" ] ] ] ], [ fhir:index 3 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:69547-8 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "69547-8" ] ; fhir:Coding.display [ fhir:value "Ref nucleotide" ] ] ] ; fhir:Observation.component.valueString [ fhir:value "C" ] ], [ fhir:index 4 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:69551-0 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "69551-0" ] ; fhir:Coding.display [ fhir:value "Alt allele" ] ] ] ; fhir:Observation.component.valueString [ fhir:value "A" ] ], [ fhir:index 5 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:92822-6 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "92822-6" ] ; fhir:Coding.display [ fhir:value "Genomic coord system" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA30102-0 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA30102-0" ] ] ] ], [ fhir:index 6 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:81254-5 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "81254-5" ] ] ] ; fhir:Observation.component.valueRange [ fhir:Range.low [ fhir:Quantity.value [ fhir:value "96527334"^^xsd:decimal ] ] ] ] . <urn:uuid:20ac0aeb-6bd4-4e92-a891-d44a807bfe01> a fhir:Observation ; fhir:Resource.id [ fhir:value "dv-5c7e9e1ca82e4"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" ; fhir:index 0 ; fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant> ] ] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_dv-5c7e9e1ca82e4\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation dv-5c7e9e1ca82e4</b></p><a name=\"dv-5c7e9e1ca82e4\"> </a><a name=\"hcdv-5c7e9e1ca82e4\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-variant.html\">Variant</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Bundle-bundle-CYP2C19.html#urn-uuid-19ac0aeb-6bd4-4e92-a891-d44a807bfeac\">John Storm(official) Male, DoB: 1986-12-31</a></p><p><b>effective</b>: 2019-03-05</p><p><b>issued</b>: 2019-03-05 16:04:44+0000</p><p><b>performer</b>: <a href=\"Bundle-bundle-CYP2C19.html#urn-uuid-19ac0aeb-6bd4-4e92-a891-d44a807bfeab\">Organization aTypingLab Inc</a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 62374-4}\">Human reference sequence assembly version</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA14029-5}\">GRCh37</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48013-7}\">Genomic reference sequence ID</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NC_000010.10}\">NC_000010.10</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53034-5}\">Allelic state</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6706-1}\">heterozygous</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69547-8}\">Ref nucleotide</span></p><p><b>value</b>: C</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69551-0}\">Alt allele</span></p><p><b>value</b>: G</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 92822-6}\">Genomic coord system</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA30102-0}\">1-based character counting</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81254-5}\">Genomic allele start-end</span></p><p><b>value</b>: 96527722-?</p></blockquote></div>" ] ; fhir:Observation.status [ fhir:value "final"] ; fhir:Observation.category [ fhir:index 0 ; fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ] ; fhir:Coding.code [ fhir:value "laboratory" ] ] ], [ fhir:index 1 ; fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ] ; fhir:Coding.code [ fhir:value "GE" ] ] ] ; fhir:Observation.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:69548-6 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "69548-6" ] ; fhir:Coding.display [ fhir:value "Genetic variant assessment" ] ] ] ; fhir:Observation.subject [ fhir:Reference.reference [ fhir:value "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac" ] ] ; fhir:Observation.effectiveDateTime [ fhir:value "2019-03-05"^^xsd:date] ; fhir:Observation.issued [ fhir:value "2019-03-05T16:04:44+00:00"^^xsd:dateTime] ; fhir:Observation.performer [ fhir:index 0 ; fhir:Reference.reference [ fhir:value "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab" ] ] ; fhir:Observation.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA9633-4 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA9633-4" ] ; fhir:Coding.display [ fhir:value "Present" ] ] ] ; fhir:Observation.component [ fhir:index 0 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:62374-4 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "62374-4" ] ; fhir:Coding.display [ fhir:value "Human reference sequence assembly version" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA14029-5 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA14029-5" ] ; fhir:Coding.display [ fhir:value "GRCh37" ] ] ] ], [ fhir:index 1 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:48013-7 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "48013-7" ] ; fhir:Coding.display [ fhir:value "Genomic reference sequence ID" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/refseq" ] ; fhir:Coding.code [ fhir:value "NC_000010.10" ] ] ] ], [ fhir:index 2 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:53034-5 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "53034-5" ] ; fhir:Coding.display [ fhir:value "Allelic state" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA6706-1 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA6706-1" ] ; fhir:Coding.display [ fhir:value "heterozygous" ] ] ] ], [ fhir:index 3 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:69547-8 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "69547-8" ] ; fhir:Coding.display [ fhir:value "Ref nucleotide" ] ] ] ; fhir:Observation.component.valueString [ fhir:value "C" ] ], [ fhir:index 4 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:69551-0 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "69551-0" ] ; fhir:Coding.display [ fhir:value "Alt allele" ] ] ] ; fhir:Observation.component.valueString [ fhir:value "G" ] ], [ fhir:index 5 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:92822-6 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "92822-6" ] ; fhir:Coding.display [ fhir:value "Genomic coord system" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA30102-0 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA30102-0" ] ] ] ], [ fhir:index 6 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:81254-5 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "81254-5" ] ] ] ; fhir:Observation.component.valueRange [ fhir:Range.low [ fhir:Quantity.value [ fhir:value "96527722"^^xsd:decimal ] ] ] ] . <urn:uuid:20ac0aeb-6bd4-4e92-a891-d44a807bfe02> a fhir:Observation ; fhir:Resource.id [ fhir:value "sid-5c7e9e1ca8a29"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/sequence-phase-relationship" ; fhir:index 0 ; fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/sequence-phase-relationship> ] ] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_sid-5c7e9e1ca8a29\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation sid-5c7e9e1ca8a29</b></p><a name=\"sid-5c7e9e1ca8a29\"> </a><a name=\"hcsid-5c7e9e1ca8a29\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-sequence-phase-relationship.html\">Sequence Phase Relationship</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 82120-7}\">Allelic phase</span></p><p><b>subject</b>: <a href=\"Bundle-bundle-CYP2C19.html#urn-uuid-19ac0aeb-6bd4-4e92-a891-d44a807bfeac\">John Storm(official) Male, DoB: 1986-12-31</a></p><p><b>effective</b>: 2019-03-05</p><p><b>issued</b>: 2019-03-05 16:04:44+0000</p><p><b>performer</b>: <a href=\"Bundle-bundle-CYP2C19.html#urn-uuid-19ac0aeb-6bd4-4e92-a891-d44a807bfeab\">Organization aTypingLab Inc</a></p><p><b>value</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/sequence-phase-relationship-cs Cis}\">Cis</span></p><p><b>derivedFrom</b>: </p><ul><li><a href=\"Bundle-bundle-CYP2C19.html#urn-uuid-19ac0aeb-6bd4-4e92-a891-d44a807bfe60\">Observation Genetic variant assessment</a></li><li><a href=\"Bundle-bundle-CYP2C19.html#urn-uuid-20ac0aeb-6bd4-4e92-a891-d44a807bfe01\">Observation Genetic variant assessment</a></li></ul></div>" ] ; fhir:Observation.status [ fhir:value "final"] ; fhir:Observation.category [ fhir:index 0 ; fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ] ; fhir:Coding.code [ fhir:value "laboratory" ] ] ], [ fhir:index 1 ; fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ] ; fhir:Coding.code [ fhir:value "GE" ] ] ] ; fhir:Observation.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:82120-7 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "82120-7" ] ; fhir:Coding.display [ fhir:value "Allelic phase" ] ] ] ; fhir:Observation.subject [ fhir:Reference.reference [ fhir:value "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac" ] ] ; fhir:Observation.effectiveDateTime [ fhir:value "2019-03-05"^^xsd:date] ; fhir:Observation.issued [ fhir:value "2019-03-05T16:04:44+00:00"^^xsd:dateTime] ; fhir:Observation.performer [ fhir:index 0 ; fhir:Reference.reference [ fhir:value "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab" ] ] ; fhir:Observation.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/sequence-phase-relationship-cs" ] ; fhir:Coding.code [ fhir:value "Cis" ] ; fhir:Coding.display [ fhir:value "Cis" ] ] ] ; fhir:Observation.derivedFrom [ fhir:index 0 ; fhir:Reference.reference [ fhir:value "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe60" ] ], [ fhir:index 1 ; fhir:Reference.reference [ fhir:value "urn:uuid:20ac0aeb-6bd4-4e92-a891-d44a807bfe01" ] ] . <urn:uuid:20ac0aeb-6bd4-4e92-a891-d44a807bfe03> a fhir:DiagnosticReport ; fhir:Resource.id [ fhir:value "sequence-phase-relation-CYP2C19"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report" ; fhir:index 0 ; fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report> ] ] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"DiagnosticReport_sequence-phase-relation-CYP2C19\"> </a><p class=\"res-header-id\"><b>Generated Narrative: DiagnosticReport sequence-phase-relation-CYP2C19</b></p><a name=\"sequence-phase-relation-CYP2C19\"> </a><a name=\"hcsequence-phase-relation-CYP2C19\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-genomic-report.html\">Genomic Report</a></p></div><h2><span title=\"Codes:{http://loinc.org 51969-4}\">Genetic analysis report</span> (<span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span>) </h2><table class=\"grid\"/><p><b>Report Details</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>Flags</b></td><td><b>Relevant Time</b></td><td><b>Reported</b></td></tr><tr><td><a href=\"Bundle-bundle-CYP2C19.html#urn-uuid-19ac0aeb-6bd4-4e92-a891-d44a807bfe60\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></td><td>Final</td><td>2019-03-05</td><td>2019-03-05 16:04:44+0000</td></tr><tr><td><a href=\"Bundle-bundle-CYP2C19.html#urn-uuid-20ac0aeb-6bd4-4e92-a891-d44a807bfe01\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></td><td>Final</td><td>2019-03-05</td><td>2019-03-05 16:04:44+0000</td></tr><tr><td><a href=\"Bundle-bundle-sequence-phase-relation-CYP2C19.html#urn-uuid-20ac0aeb-6bd4-4e92-a891-d44a807bfe02\"><span title=\"Codes:{http://loinc.org 82120-7}\">Allelic phase</span></a></td><td><span title=\"Codes:{http://terminology.hl7.org/CodeSystem/sequence-phase-relationship-cs Cis}\">Cis</span></td><td>Final</td><td>2019-03-05</td><td>2019-03-05 16:04:44+0000</td></tr></table></div>" ] ; fhir:DiagnosticReport.status [ fhir:value "final"] ; fhir:DiagnosticReport.category [ fhir:index 0 ; fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ] ; fhir:Coding.code [ fhir:value "GE" ] ] ] ; fhir:DiagnosticReport.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:51969-4 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "51969-4" ] ] ] ; fhir:DiagnosticReport.result [ fhir:index 0 ; fhir:Reference.reference [ fhir:value "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfe60" ] ], [ fhir:index 1 ; fhir:Reference.reference [ fhir:value "urn:uuid:20ac0aeb-6bd4-4e92-a891-d44a807bfe01" ] ], [ fhir:index 2 ; fhir:Reference.reference [ fhir:value "urn:uuid:20ac0aeb-6bd4-4e92-a891-d44a807bfe02" ] ] . <urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab> a fhir:Organization ; fhir:Resource.id [ fhir:value "performingLab"] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Organization_performingLab\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Organization performingLab</b></p><a name=\"performingLab\"> </a><a name=\"hcperformingLab\"> </a><p><b>name</b>: aTypingLab Inc</p><p><b>alias</b>: aTL</p><p><b>telecom</b>: ph: 1-800-555-1234(Work)</p><p><b>address</b>: 123 Main St, Sometown, ND 99999(work)</p></div>" ] ; fhir:Organization.name [ fhir:value "aTypingLab Inc"] ; fhir:Organization.alias [ fhir:value "aTL" ; fhir:index 0 ] ; fhir:Organization.telecom [ fhir:index 0 ; fhir:ContactPoint.system [ fhir:value "phone" ] ; fhir:ContactPoint.value [ fhir:value "1-800-555-1234" ] ; fhir:ContactPoint.use [ fhir:value "work" ] ; fhir:ContactPoint.rank [ fhir:value "1"^^xsd:positiveInteger ] ] ; fhir:Organization.address [ fhir:index 0 ; fhir:Address.use [ fhir:value "work" ] ; fhir:Address.type [ fhir:value "both" ] ; fhir:Address.text [ fhir:value "123 Main St, Sometown, ND 99999" ] ; fhir:Address.line [ fhir:value "123 Main St" ; fhir:index 0 ] ; fhir:Address.city [ fhir:value "Sometown" ] ; fhir:Address.state [ fhir:value "ND" ] ; fhir:Address.postalCode [ fhir:value "99999" ] ; fhir:Address.country [ fhir:value "USA" ] ] . <urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac> a fhir:Patient ; fhir:Resource.id [ fhir:value "patient"] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Patient_patient\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Patient patient</b></p><a name=\"patient\"> </a><a name=\"hcpatient\"> </a><p style=\"border: 1px #661aff solid; background-color: #e6e6ff; padding: 10px;\">John Storm(official) Male, DoB: 1986-12-31</p><hr/><table class=\"grid\"><tr><td style=\"background-color: #f3f5da\" title=\"Ways to contact the Patient\">Contact Detail</td><td colspan=\"3\"><ul><li>ph: 1-800-555-1234(Work)</li><li>123 Main St, Sometown, ND 99999(work)</li></ul></td></tr></table></div>" ] ; fhir:Patient.name [ fhir:index 0 ; fhir:HumanName.use [ fhir:value "official" ] ; fhir:HumanName.text [ fhir:value "John Storm" ] ; fhir:HumanName.family [ fhir:value "Storm" ] ; fhir:HumanName.given [ fhir:value "John" ; fhir:index 0 ] ], [ fhir:index 1 ; fhir:HumanName.use [ fhir:value "nickname" ] ; fhir:HumanName.text [ fhir:value "Johnny Storm" ] ; fhir:HumanName.family [ fhir:value "Storm" ] ; fhir:HumanName.given [ fhir:value "Johnny" ; fhir:index 0 ] ], [ fhir:index 2 ; fhir:HumanName.use [ fhir:value "nickname" ] ; fhir:HumanName.text [ fhir:value "The Human Torch" ] ] ; fhir:Patient.telecom [ fhir:index 0 ; fhir:ContactPoint.system [ fhir:value "phone" ] ; fhir:ContactPoint.value [ fhir:value "1-800-555-1234" ] ; fhir:ContactPoint.use [ fhir:value "work" ] ; fhir:ContactPoint.rank [ fhir:value "1"^^xsd:positiveInteger ] ] ; fhir:Patient.gender [ fhir:value "male"] ; fhir:Patient.birthDate [ fhir:value "1986-12-31"^^xsd:date] ; fhir:Patient.address [ fhir:index 0 ; fhir:Address.use [ fhir:value "work" ] ; fhir:Address.type [ fhir:value "both" ] ; fhir:Address.text [ fhir:value "123 Main St, Sometown, ND 99999" ] ; fhir:Address.line [ fhir:value "123 Main St" ; fhir:index 0 ] ; fhir:Address.city [ fhir:value "Sometown" ] ; fhir:Address.state [ fhir:value "ND" ] ; fhir:Address.postalCode [ fhir:value "99999" ] ; fhir:Address.country [ fhir:value "USA" ] ] . # - ontology header ------------------------------------------------------------ <http://hl7.org/fhir/Bundle/bundle-sequence-phase-relation-CYP2C19.ttl> a owl:Ontology ; owl:imports fhir:fhir.ttl ; owl:versionIRI <http://build.fhir.org/Bundle/bundle-sequence-phase-relation-CYP2C19.ttl> .
IG © 2025+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#4.0.0-cibuild based on FHIR 4.0.1. Generated 2026-09-21
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