Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot
Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot
This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions
@prefix fhir: <http://hl7.org/fhir/> . @prefix loinc: <https://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 ------------------------------------------------------------------- a fhir:Bundle ; fhir:nodeRole fhir:treeRoot ; fhir:id [ fhir:v "bundle-complexVariant-nonHGVS"] ; # fhir:type [ fhir:v "transaction"] ; # fhir:entry ( [ fhir:fullUrl [ fhir:v "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d"^^xsd:anyURI ] ; ( fhir:resource <urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d> ) ; fhir:request [ fhir:method [ fhir:v "POST" ] ; fhir:url [ fhir:v "Observation"^^xsd:anyURI ] ] ] [ fhir:fullUrl [ fhir:v "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e"^^xsd:anyURI ] ; ( fhir:resource <urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e> ) ; fhir:request [ fhir:method [ fhir:v "POST" ] ; fhir:url [ fhir:v "Observation"^^xsd:anyURI ] ] ] [ fhir:fullUrl [ fhir:v "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12a"^^xsd:anyURI ] ; ( fhir:resource <urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12a> ) ; fhir:request [ fhir:method [ fhir:v "POST" ] ; fhir:url [ fhir:v "Observation"^^xsd:anyURI ] ] ] [ fhir:fullUrl [ fhir:v "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab"^^xsd:anyURI ] ; ( fhir:resource <urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab> ) ; fhir:request [ fhir:method [ fhir:v "POST" ] ; fhir:url [ fhir:v "Organization"^^xsd:anyURI ] ] ] [ fhir:fullUrl [ fhir:v "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac"^^xsd:anyURI ] ; ( fhir:resource <urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac> ) ; fhir:request [ fhir:method [ fhir:v "POST" ] ; fhir:url [ fhir:v "Patient"^^xsd:anyURI ] ] ] ) . # <urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d> a fhir:Observation ; fhir:id [ fhir:v "Inline-Instance-for-complexVariant-nonHGVS-1"] ; # fhir:meta [ ( fhir:profile [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"^^xsd:anyURI ; fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant> ] ) ] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Observation</b><a name=\"Inline-Instance-for-complexVariant-nonHGVS-1\"> </a></p><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\">Resource Observation "Inline-Instance-for-complexVariant-nonHGVS-1" </p><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>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span>, Genetics <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v2-0074.html\">diagnosticServiceSectionId</a>#GE)</span></p><p><b>code</b>: Genetic variant assessment <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#69548-6)</span></p><p><b>subject</b>: <a href=\"#Patient_patient\">See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)</a></p><p><b>effective</b>: 2019-03-05</p><p><b>issued</b>: Mar 5, 2019, 4:04:44 PM</p><p><b>performer</b>: <a href=\"#Organization_performingLab\">See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)</a></p><p><b>value</b>: Present <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA9633-4)</span></p><blockquote><p><b>component</b></p><p><b>code</b>: Transcript ref sequence ID <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#51958-7)</span></p><p><b>value</b>: NM_022787.3 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v3-refSeq.html\">Gene Reference Sequence Collection</a>#NM_022787.3)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Genomic allele start-end <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#81254-5)</span></p><p><b>value</b>: 769-769</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Genomic ref allele [ID] <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#69547-8)</span></p><p><b>value</b>: G</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Genomic alt allele [ID] <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#69551-0)</span></p><p><b>value</b>: A</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Allelic state <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#53034-5)</span></p><p><b>value</b>: Heterozygous <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA6706-1)</span></p></blockquote></div>" ] ; # fhir:status [ fhir:v "final"] ; # fhir:category ( [ ( fhir:coding [ fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/observation-category"^^xsd:anyURI ] ; fhir:code [ fhir:v "laboratory" ] ] ) ] [ ( fhir:coding [ fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v2-0074"^^xsd:anyURI ] ; fhir:code [ fhir:v "GE" ] ] ) ] ) ; # fhir:code [ ( fhir:coding [ a loinc:69548-6 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ; fhir:code [ fhir:v "69548-6" ] ; fhir:display [ fhir:v "Genetic variant assessment" ] ] ) ] ; # fhir:subject [ fhir:reference [ fhir:v "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac" ] ] ; # fhir:effective [ fhir:v "2019-03-05"^^xsd:date] ; # fhir:issued [ fhir:v "2019-03-05T16:04:44+00:00"^^xsd:dateTime] ; # fhir:performer ( [ fhir:reference [ fhir:v "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab" ] ] ) ; # fhir:value [ a fhir:CodeableConcept ; ( fhir:coding [ a loinc:LA9633-4 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ; fhir:code [ fhir:v "LA9633-4" ] ; fhir:display [ fhir:v "Present" ] ] ) ] ; # fhir:component ( [ fhir:code [ ( fhir:coding [ a loinc:51958-7 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ; fhir:code [ fhir:v "51958-7" ] ; fhir:display [ fhir:v "Transcript ref sequence ID" ] ] ) ] ; fhir:value [ a fhir:CodeableConcept ; ( fhir:coding [ fhir:system [ fhir:v "http://www.ncbi.nlm.nih.gov/refseq"^^xsd:anyURI ] ; fhir:code [ fhir:v "NM_022787.3" ] ; fhir:display [ fhir:v "NM_022787.3" ] ] ) ] ] [ fhir:code [ ( fhir:coding [ a loinc:81254-5 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ; fhir:code [ fhir:v "81254-5" ] ] ) ] ; fhir:value [ a fhir:Range ; fhir:low [ fhir:value [ fhir:v "769"^^xsd:decimal ] ] ; fhir:high [ fhir:value [ fhir:v "769"^^xsd:decimal ] ] ] ] [ fhir:code [ ( fhir:coding [ a loinc:69547-8 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ; fhir:code [ fhir:v "69547-8" ] ; fhir:display [ fhir:v "Genomic ref allele [ID]" ] ] ) ] ; fhir:value [ fhir:v "G" ] ] [ fhir:code [ ( fhir:coding [ a loinc:69551-0 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ; fhir:code [ fhir:v "69551-0" ] ; fhir:display [ fhir:v "Genomic alt allele [ID]" ] ] ) ] ; fhir:value [ fhir:v "A" ] ] [ fhir:code [ ( fhir:coding [ a loinc:53034-5 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ; fhir:code [ fhir:v "53034-5" ] ; fhir:display [ fhir:v "Allelic state" ] ] ) ] ; fhir:value [ a fhir:CodeableConcept ; ( fhir:coding [ a loinc:LA6706-1 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ; fhir:code [ fhir:v "LA6706-1" ] ; fhir:display [ fhir:v "Heterozygous" ] ] ) ] ] ) . # <urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e> a fhir:Observation ; fhir:id [ fhir:v "Inline-Instance-for-complexVariant-nonHGVS-2"] ; # fhir:meta [ ( fhir:profile [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"^^xsd:anyURI ; fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant> ] ) ] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Observation</b><a name=\"Inline-Instance-for-complexVariant-nonHGVS-2\"> </a></p><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\">Resource Observation "Inline-Instance-for-complexVariant-nonHGVS-2" </p><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>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span>, Genetics <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v2-0074.html\">diagnosticServiceSectionId</a>#GE)</span></p><p><b>code</b>: Genetic variant assessment <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#69548-6)</span></p><p><b>subject</b>: <a href=\"#Patient_patient\">See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)</a></p><p><b>effective</b>: 2019-03-05</p><p><b>issued</b>: Mar 5, 2019, 4:04:44 PM</p><p><b>performer</b>: <a href=\"#Organization_performingLab\">See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)</a></p><p><b>value</b>: Present <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA9633-4)</span></p><blockquote><p><b>component</b></p><p><b>code</b>: Transcript ref sequence ID <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#51958-7)</span></p><p><b>value</b>: NM_022787.3 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v3-refSeq.html\">Gene Reference Sequence Collection</a>#NM_022787.3)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Genomic allele start-end <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#81254-5)</span></p><p><b>value</b>: 53-53</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Genomic ref allele [ID] <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#69547-8)</span></p><p><b>value</b>: A</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Genomic alt allele [ID] <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#69551-0)</span></p><p><b>value</b>: G</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Allelic state <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#53034-5)</span></p><p><b>value</b>: Heterozygous <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA6706-1)</span></p></blockquote></div>" ] ; # fhir:status [ fhir:v "final"] ; # fhir:category ( [ ( fhir:coding [ fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/observation-category"^^xsd:anyURI ] ; fhir:code [ fhir:v "laboratory" ] ] ) ] [ ( fhir:coding [ fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v2-0074"^^xsd:anyURI ] ; fhir:code [ fhir:v "GE" ] ] ) ] ) ; # fhir:code [ ( fhir:coding [ a loinc:69548-6 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ; fhir:code [ fhir:v "69548-6" ] ; fhir:display [ fhir:v "Genetic variant assessment" ] ] ) ] ; # fhir:subject [ fhir:reference [ fhir:v "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac" ] ] ; # fhir:effective [ fhir:v "2019-03-05"^^xsd:date] ; # fhir:issued [ fhir:v "2019-03-05T16:04:44+00:00"^^xsd:dateTime] ; # fhir:performer ( [ fhir:reference [ fhir:v "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab" ] ] ) ; # fhir:value [ a fhir:CodeableConcept ; ( fhir:coding [ a loinc:LA9633-4 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ; fhir:code [ fhir:v "LA9633-4" ] ; fhir:display [ fhir:v "Present" ] ] ) ] ; # fhir:component ( [ fhir:code [ ( fhir:coding [ a loinc:51958-7 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ; fhir:code [ fhir:v "51958-7" ] ; fhir:display [ fhir:v "Transcript ref sequence ID" ] ] ) ] ; fhir:value [ a fhir:CodeableConcept ; ( fhir:coding [ fhir:system [ fhir:v "http://www.ncbi.nlm.nih.gov/refseq"^^xsd:anyURI ] ; fhir:code [ fhir:v "NM_022787.3" ] ; fhir:display [ fhir:v "NM_022787.3" ] ] ) ] ] [ fhir:code [ ( fhir:coding [ a loinc:81254-5 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ; fhir:code [ fhir:v "81254-5" ] ] ) ] ; fhir:value [ a fhir:Range ; fhir:low [ fhir:value [ fhir:v "53"^^xsd:decimal ] ] ; fhir:high [ fhir:value [ fhir:v "53"^^xsd:decimal ] ] ] ] [ fhir:code [ ( fhir:coding [ a loinc:69547-8 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ; fhir:code [ fhir:v "69547-8" ] ; fhir:display [ fhir:v "Genomic ref allele [ID]" ] ] ) ] ; fhir:value [ fhir:v "A" ] ] [ fhir:code [ ( fhir:coding [ a loinc:69551-0 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ; fhir:code [ fhir:v "69551-0" ] ; fhir:display [ fhir:v "Genomic alt allele [ID]" ] ] ) ] ; fhir:value [ fhir:v "G" ] ] [ fhir:code [ ( fhir:coding [ a loinc:53034-5 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ; fhir:code [ fhir:v "53034-5" ] ; fhir:display [ fhir:v "Allelic state" ] ] ) ] ; fhir:value [ a fhir:CodeableConcept ; ( fhir:coding [ a loinc:LA6706-1 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ; fhir:code [ fhir:v "LA6706-1" ] ; fhir:display [ fhir:v "Heterozygous" ] ] ) ] ] ) . # <urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12a> a fhir:Observation ; fhir:id [ fhir:v "Inline-Instance-for-complexVariant-nonHGVS-3"] ; # fhir:meta [ ( fhir:profile [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"^^xsd:anyURI ; fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype> ] ) ] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Observation</b><a name=\"Inline-Instance-for-complexVariant-nonHGVS-3\"> </a></p><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\">Resource Observation "Inline-Instance-for-complexVariant-nonHGVS-3" </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-genotype.html\">Genotype</a></p></div><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span>, Genetics <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v2-0074.html\">diagnosticServiceSectionId</a>#GE)</span></p><p><b>code</b>: Genotype display name <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#84413-4)</span></p><p><b>subject</b>: <a href=\"#Patient_patient\">See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac)</a></p><p><b>effective</b>: 2019-03-05</p><p><b>issued</b>: Mar 5, 2019, 4:04:44 PM</p><p><b>performer</b>: <a href=\"#Organization_performingLab\">See above (urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab)</a></p><p><b>value</b>: NM_022787.3(NMNAT1):c.[53A>G];[769G>A] AND Cone-rod dystrophy <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-ClinVarV.html\">ClinVar Variant ID</a>#RCV000664188.1)</span></p><p><b>hasMember</b>: </p><ul><li><a href=\"#Observation_Inline-Instance-for-complexVariant-nonHGVS-2\">See above (urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e: unpacked representation of NM_022787.3:c.53A>G)</a></li><li><a href=\"#Observation_Inline-Instance-for-complexVariant-nonHGVS-1\">See above (urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d: unpacked representation of NM_022787.3:c.769G>A)</a></li></ul></div>" ] ; # fhir:status [ fhir:v "final"] ; # fhir:category ( [ ( fhir:coding [ fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/observation-category"^^xsd:anyURI ] ; fhir:code [ fhir:v "laboratory" ] ] ) ] [ ( fhir:coding [ fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v2-0074"^^xsd:anyURI ] ; fhir:code [ fhir:v "GE" ] ] ) ] ) ; # fhir:code [ ( fhir:coding [ a loinc:84413-4 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ; fhir:code [ fhir:v "84413-4" ] ] ) ] ; # fhir:subject [ fhir:reference [ fhir:v "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac" ] ] ; # fhir:effective [ fhir:v "2019-03-05"^^xsd:date] ; # fhir:issued [ fhir:v "2019-03-05T16:04:44+00:00"^^xsd:dateTime] ; # fhir:performer ( [ fhir:reference [ fhir:v "urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab" ] ] ) ; # fhir:value [ a fhir:CodeableConcept ; ( fhir:coding [ fhir:system [ fhir:v "http://www.ncbi.nlm.nih.gov/clinvar"^^xsd:anyURI ] ; fhir:code [ fhir:v "RCV000664188.1" ] ; fhir:display [ fhir:v "NM_022787.3(NMNAT1):c.[53A>G];[769G>A] AND Cone-rod dystrophy" ] ] ) ] ; # fhir:hasMember ( [ fhir:reference [ fhir:v "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e" ] ; fhir:display [ fhir:v "unpacked representation of NM_022787.3:c.53A>G" ] ] [ fhir:reference [ fhir:v "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d" ] ; fhir:display [ fhir:v "unpacked representation of NM_022787.3:c.769G>A" ] ] ) . # <urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeab> a fhir:Organization ; fhir:id [ fhir:v "performingLab"] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Organization</b><a name=\"performingLab\"> </a></p><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\">Resource Organization "performingLab" </p></div><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:name [ fhir:v "aTypingLab Inc"] ; # fhir:alias ( [ fhir:v "aTL"] ) ; # fhir:telecom ( [ fhir:system [ fhir:v "phone" ] ; fhir:value [ fhir:v "1-800-555-1234" ] ; fhir:use [ fhir:v "work" ] ; fhir:rank [ fhir:v "1"^^xsd:positiveInteger ] ] ) ; # fhir:address ( [ fhir:use [ fhir:v "work" ] ; fhir:type [ fhir:v "both" ] ; fhir:text [ fhir:v "123 Main St, Sometown, ND 99999" ] ; ( fhir:line [ fhir:v "123 Main St" ] ) ; fhir:city [ fhir:v "Sometown" ] ; fhir:state [ fhir:v "ND" ] ; fhir:postalCode [ fhir:v "99999" ] ; fhir:country [ fhir:v "USA" ] ] ) . # <urn:uuid:19ac0aeb-6bd4-4e92-a891-d44a807bfeac> a fhir:Patient ; fhir:id [ fhir:v "patient"] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Patient</b><a name=\"patient\"> </a></p><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\">Resource Patient "patient" </p></div><p><b>name</b>: John Storm(OFFICIAL), Johnny Storm(NICKNAME), The Human Torch(NICKNAME)</p><p><b>gender</b>: male</p><p><b>birthDate</b>: 1986-12-31</p></div>" ] ; # fhir:name ( [ fhir:use [ fhir:v "official" ] ; fhir:text [ fhir:v "John Storm" ] ; fhir:family [ fhir:v "Storm" ] ; ( fhir:given [ fhir:v "John" ] ) ] [ fhir:use [ fhir:v "nickname" ] ; fhir:text [ fhir:v "Johnny Storm" ] ; fhir:family [ fhir:v "Storm" ] ; ( fhir:given [ fhir:v "Johnny" ] ) ] [ fhir:use [ fhir:v "nickname" ] ; fhir:text [ fhir:v "The Human Torch" ] ] ) ; # fhir:gender [ fhir:v "male"] ; # fhir:birthDate [ fhir:v "1986-12-31"^^xsd:date] . #
IG © 2022+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#3.0.0-ballot based on FHIR 4.0.1. Generated 2023-12-18
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