Genomics Reporting Implementation Guide (STU1)
This page is part of the Genetic Reporting Implementation Guide (v1.0.0: STU 1) based on FHIR R4. The current version which supercedes 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: <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 ------------------------------------------------------------------- a fhir:Bundle; fhir:nodeRole fhir:treeRoot; fhir:Resource.id [ fhir:value "oncology-diagnostic"]; fhir:Bundle.type [ fhir:value "transaction"]; fhir:Bundle.entry [ fhir:index 0; fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d" ]; fhir:Bundle.entry.resource <urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d>; fhir:Bundle.entry.request [ fhir:Bundle.entry.request.method [ fhir:value "POST" ]; fhir:Bundle.entry.request.url [ fhir:value "Patient" ] ] ], [ fhir:index 1; fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef" ]; fhir:Bundle.entry.resource <urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef>; fhir:Bundle.entry.request [ fhir:Bundle.entry.request.method [ fhir:value "POST" ]; fhir:Bundle.entry.request.url [ fhir:value "Practitioner" ] ] ], [ fhir:index 2; fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d" ]; fhir:Bundle.entry.resource <urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d>; fhir:Bundle.entry.request [ fhir:Bundle.entry.request.method [ fhir:value "POST" ]; fhir:Bundle.entry.request.url [ fhir:value "Specimen" ] ] ], [ fhir:index 3; fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:40e85eda-4d31-4bd2-a5a0-c39d63f9824f" ]; fhir:Bundle.entry.resource <urn:uuid:40e85eda-4d31-4bd2-a5a0-c39d63f9824f>; fhir:Bundle.entry.request [ fhir:Bundle.entry.request.method [ fhir:value "POST" ]; fhir:Bundle.entry.request.url [ fhir:value "Observation" ] ] ], [ fhir:index 4; fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d" ]; fhir:Bundle.entry.resource <urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d>; fhir:Bundle.entry.request [ fhir:Bundle.entry.request.method [ fhir:value "POST" ]; fhir:Bundle.entry.request.url [ fhir:value "Observation" ] ] ], [ fhir:index 5; fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:1bf9642d-fd1c-4819-8c5d-44fae4bad524" ]; fhir:Bundle.entry.resource <urn:uuid:1bf9642d-fd1c-4819-8c5d-44fae4bad524>; fhir:Bundle.entry.request [ fhir:Bundle.entry.request.method [ fhir:value "POST" ]; fhir:Bundle.entry.request.url [ fhir:value "Observation" ] ] ], [ fhir:index 6; fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:ad7a499b-a43b-4cc8-bf46-cac62d9ecae5" ]; fhir:Bundle.entry.resource <urn:uuid:ad7a499b-a43b-4cc8-bf46-cac62d9ecae5>; fhir:Bundle.entry.request [ fhir:Bundle.entry.request.method [ fhir:value "POST" ]; fhir:Bundle.entry.request.url [ fhir:value "DiagnosticReport" ] ] ]. <urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d> a fhir:Patient; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ]; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative with Details</b></p><p><b>identifier</b>: 1007</p><p><b>name</b>: Carrot John Mr </p><p><b>gender</b>: male</p><p><b>birthDate</b>: 1962-12-31</p><p><b>generalPractitioner</b>: <a href=\"urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef\">urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef</a></p></div>" ]; fhir:Patient.identifier [ fhir:index 0; fhir:Identifier.value [ fhir:value "1007" ] ]; fhir:Patient.name [ fhir:index 0; fhir:HumanName.given [ fhir:value "Carrot"; fhir:index 0 ], [ fhir:value "John"; fhir:index 1 ], [ fhir:value "Mr"; fhir:index 2 ] ]; fhir:Patient.gender [ fhir:value "male"]; fhir:Patient.birthDate [ fhir:value "1962-12-31"^^xsd:date]; fhir:Patient.generalPractitioner [ fhir:index 0; fhir:Reference.reference [ fhir:value "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef" ] ]. <urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef> a fhir:Practitioner; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ]; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative with Details</b></p><p><b>identifier</b>: 4654765876</p><p><b>name</b>: Akerman Philip Prof </p><p><b>address</b>: Castro Valley CA </p></div>" ]; fhir:Practitioner.identifier [ fhir:index 0; fhir:Identifier.value [ fhir:value "4654765876" ] ]; fhir:Practitioner.name [ fhir:index 0; fhir:HumanName.given [ fhir:value "Akerman"; fhir:index 0 ], [ fhir:value "Philip"; fhir:index 1 ], [ fhir:value "Prof"; fhir:index 2 ] ]; fhir:Practitioner.address [ fhir:index 0; fhir:Address.city [ fhir:value "Castro Valley" ]; fhir:Address.state [ fhir:value "CA" ] ]. <urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d> a fhir:Specimen; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/specimen"; fhir:index 0; fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/specimen> ] ]; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ]; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative with Details</b></p><p><b>meta</b>: </p><p><b>identifier</b>: 076e1948-2217-11e9-94d8-12e241dc1f66</p><p><b>status</b>: available</p><p><b>subject</b>: <a href=\"urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d\">urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d</a></p><h3>Collections</h3><table class=\"grid\"><tr><td>-</td><td><b>Collector</b></td></tr><tr><td>*</td><td><a href=\"urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef\">urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef</a></td></tr></table></div>" ]; fhir:Specimen.identifier [ fhir:index 0; fhir:Identifier.value [ fhir:value "076e1948-2217-11e9-94d8-12e241dc1f66" ] ]; fhir:Specimen.status [ fhir:value "available"]; fhir:Specimen.subject [ fhir:Reference.reference [ fhir:value "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d" ] ]; fhir:Specimen.collection [ fhir:Specimen.collection.collector [ fhir:Reference.reference [ fhir:value "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef" ] ] ]. <urn:uuid:40e85eda-4d31-4bd2-a5a0-c39d63f9824f> a fhir:Observation; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ]; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative with Details</b></p><p><b>status</b>: final</p><p><b>code</b>: Tumor Mutational Burden <span style=\"background: LightGoldenRodYellow\">(Details )</span></p><p><b>subject</b>: <a href=\"urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d\">urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d</a></p><p><b>performer</b>: <a href=\"urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef\">urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef</a></p><p><b>value</b>: 25.0 somatic variants per megabase of sequenced DNA<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM code v/Mb = 'v/Mb')</span></p><p><b>specimen</b>: <a href=\"urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d\">urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d</a></p></div>" ]; fhir:Observation.status [ fhir:value "final"]; fhir:Observation.code [ fhir:CodeableConcept.text [ fhir:value "Tumor Mutational Burden" ] ]; fhir:Observation.subject [ fhir:Reference.reference [ fhir:value "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d" ] ]; fhir:Observation.performer [ fhir:index 0; fhir:Reference.reference [ fhir:value "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef" ] ]; fhir:Observation.valueQuantity [ fhir:Quantity.value [ fhir:value "25.0"^^xsd:decimal ]; fhir:Quantity.unit [ fhir:value "somatic variants per megabase of sequenced DNA" ]; fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ]; fhir:Quantity.code [ fhir:value "v/Mb" ] ]; fhir:Observation.specimen [ fhir:Reference.reference [ fhir:value "urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d" ] ]. <urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d> a fhir:Observation; 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\"><p><b>Generated Narrative with Details</b></p><p><b>meta</b>: </p><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style=\"background: LightGoldenRodYellow\">(Details : {http://terminology.hl7.org/CodeSystem/observation-category code 'laboratory' = 'Laboratory)</span></p><p><b>code</b>: Genetic variant assessment <span style=\"background: LightGoldenRodYellow\">(Details : {LOINC code '69548-6' = 'Genetic variant assessment', given as 'Genetic variant assessment'})</span></p><p><b>subject</b>: <a href=\"urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d\">urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d</a></p><p><b>performer</b>: <a href=\"urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef\">urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef</a></p><p><b>value</b>: Present <span style=\"background: LightGoldenRodYellow\">(Details : {LOINC code 'LA9633-4' = 'Present', given as 'Present'})</span></p><p><b>method</b>: Sequencing <span style=\"background: LightGoldenRodYellow\">(Details : {LOINC code 'LA26398-0' = 'Sequencing', given as 'Sequencing'})</span></p><p><b>specimen</b>: <a href=\"urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d\">urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d</a></p><blockquote><p><b>component</b></p><p><b>code</b>: Human reference sequence assembly version <span style=\"background: LightGoldenRodYellow\">(Details : {LOINC code '62374-4' = 'Human reference sequence assembly version', given as 'Human reference sequence assembly version'})</span></p><p><b>value</b>: GRCh37 <span style=\"background: LightGoldenRodYellow\">(Details : {LOINC code 'LA14029-5' = 'GRCh37', given as 'GRCh37'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Genomic DNA change (gHGVS) <span style=\"background: LightGoldenRodYellow\">(Details : {LOINC code '81290-9' = 'Genomic DNA change (gHGVS)', given as 'Genomic DNA change (gHGVS)'})</span></p><p><b>value</b>: NC_000007.13:g.140453136A>T <span style=\"background: LightGoldenRodYellow\">(Details : {http://varnomen.hgvs.org code 'NC_000007.13:g.140453136A>T' = 'NC_000007.13:g.140453136A>T', given as 'NC_000007.13:g.140453136A>T'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Discrete genetic variant <span style=\"background: LightGoldenRodYellow\">(Details : {LOINC code '81252-9' = 'Discrete genetic variant', given as 'Discrete genetic variant'})</span></p><p><b>value</b>: Clinvar ID 13961 <span style=\"background: LightGoldenRodYellow\">(Details : {http://www.ncbi.nlm.nih.gov/clinvar code '13961' = '13961', given as 'Clinvar ID 13961'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Amino acid change (pHGVS) <span style=\"background: LightGoldenRodYellow\">(Details : {LOINC code '48005-3' = 'Amino acid change (pHGVS)', given as 'Amino acid change (pHGVS)'})</span></p><p><b>value</b>: p.Val600Glu <span style=\"background: LightGoldenRodYellow\">(Details : {http://varnomen.hgvs.org code 'p.Val600Glu' = 'p.Val600Glu', given as 'p.Val600Glu'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Amino acid change type <span style=\"background: LightGoldenRodYellow\">(Details : {LOINC code '48006-1' = 'Amino acid change [Type]', given as 'Amino acid change type'})</span></p><p><b>value</b>: Missense <span style=\"background: LightGoldenRodYellow\">(Details : {LOINC code 'LA6698-0' = 'Missense', given as 'Missense'})</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Gene studied ID <span style=\"background: LightGoldenRodYellow\">(Details : {LOINC code '48018-6' = 'Gene studied [ID]', given as 'Gene studied ID'})</span></p><p><b>value</b>: BRAF <span style=\"background: LightGoldenRodYellow\">(Details : {http://www.genenames.org/geneId code 'HGNC:1097' = 'HGNC:1097', given as 'BRAF'})</span></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: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:d0b4affa-91d6-46d1-af01-b30d9f16ef6d" ] ]; fhir:Observation.performer [ fhir:index 0; fhir:Reference.reference [ fhir:value "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef" ] ]; 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.method [ fhir:CodeableConcept.coding [ fhir:index 0; a loinc:LA26398-0; fhir:Coding.system [ fhir:value "http://loinc.org" ]; fhir:Coding.code [ fhir:value "LA26398-0" ]; fhir:Coding.display [ fhir:value "Sequencing" ] ] ]; fhir:Observation.specimen [ fhir:Reference.reference [ fhir:value "urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d" ] ]; 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:81290-9; fhir:Coding.system [ fhir:value "http://loinc.org" ]; fhir:Coding.code [ fhir:value "81290-9" ]; fhir:Coding.display [ fhir:value "Genomic DNA change (gHGVS)" ] ] ]; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0; fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ]; fhir:Coding.code [ fhir:value "NC_000007.13:g.140453136A>T" ]; fhir:Coding.display [ fhir:value "NC_000007.13:g.140453136A>T" ] ] ] ], [ fhir:index 2; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0; a loinc:81252-9; fhir:Coding.system [ fhir:value "http://loinc.org" ]; fhir:Coding.code [ fhir:value "81252-9" ]; fhir:Coding.display [ fhir:value "Discrete genetic variant" ] ] ]; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0; fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/clinvar" ]; fhir:Coding.code [ fhir:value "13961" ]; fhir:Coding.display [ fhir:value "Clinvar ID 13961" ] ] ] ], [ fhir:index 3; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0; a loinc:48005-3; fhir:Coding.system [ fhir:value "http://loinc.org" ]; fhir:Coding.code [ fhir:value "48005-3" ]; fhir:Coding.display [ fhir:value "Amino acid change (pHGVS)" ] ] ]; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0; fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ]; fhir:Coding.code [ fhir:value "p.Val600Glu" ]; fhir:Coding.display [ fhir:value "p.Val600Glu" ] ] ] ], [ fhir:index 4; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0; a loinc:48006-1; fhir:Coding.system [ fhir:value "http://loinc.org" ]; fhir:Coding.code [ fhir:value "48006-1" ]; fhir:Coding.display [ fhir:value "Amino acid change type" ] ] ]; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0; a loinc:LA6698-0; fhir:Coding.system [ fhir:value "http://loinc.org" ]; fhir:Coding.code [ fhir:value "LA6698-0" ]; fhir:Coding.display [ fhir:value "Missense" ] ] ] ], [ fhir:index 5; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0; a loinc:48018-6; fhir:Coding.system [ fhir:value "http://loinc.org" ]; fhir:Coding.code [ fhir:value "48018-6" ]; fhir:Coding.display [ fhir:value "Gene studied ID" ] ] ]; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0; fhir:Coding.system [ fhir:value "http://www.genenames.org/geneId" ]; fhir:Coding.code [ fhir:value "HGNC:1097" ]; fhir:Coding.display [ fhir:value "BRAF" ] ] ] ]. <urn:uuid:1bf9642d-fd1c-4819-8c5d-44fae4bad524> a fhir:Observation; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/somatic-diagnostic"; fhir:index 0; fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/somatic-diagnostic> ] ]; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ]; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative with Details</b></p><p><b>meta</b>: </p><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style=\"background: LightGoldenRodYellow\">(Details : {http://terminology.hl7.org/CodeSystem/observation-category code 'laboratory' = 'Laboratory)</span></p><p><b>code</b>: somatic-diagnostic <span style=\"background: LightGoldenRodYellow\">(Details : {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes code 'somatic-diagnostic' = 'somatic-diagnostic)</span></p><p><b>subject</b>: <a href=\"urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d\">urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d</a></p><p><b>performer</b>: <a href=\"urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef\">urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef</a></p><p><b>value</b>: Supportive <span style=\"background: LightGoldenRodYellow\">(Details )</span></p><p><b>method</b>: Computational analysis <span style=\"background: LightGoldenRodYellow\">(Details : {LOINC code 'LA26811-2' = 'Computational analysis', given as 'Computational analysis'})</span></p><p><b>specimen</b>: <a href=\"urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d\">urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d</a></p><p><b>derivedFrom</b>: <a href=\"urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d\">urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d</a></p><blockquote><p><b>component</b></p><p><b>code</b>: Level of Evidence <span style=\"background: LightGoldenRodYellow\">(Details : {LOINC code '93044-6' = 'Level of evidence', given as 'Level of Evidence'})</span></p><p><b>value</b>: AMP/ASCO/CAP guidelines - Level A <span style=\"background: LightGoldenRodYellow\">(Details )</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: associated-cancer <span style=\"background: LightGoldenRodYellow\">(Details : {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes code 'associated-cancer' = 'associated-cancer)</span></p><p><b>value</b>: melanoma <span style=\"background: LightGoldenRodYellow\">(Details )</span></p></blockquote></div>" ]; fhir:DomainResource.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/RelatedArtifact" ]; fhir:Extension.valueRelatedArtifact [ fhir:RelatedArtifact.type [ fhir:value "justification" ]; fhir:RelatedArtifact.display [ fhir:value "https://pmkb.weill.cornell.edu/therapies/103" ] ] ]; 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:Observation.code [ fhir:CodeableConcept.coding [ fhir:index 0; fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes" ]; fhir:Coding.code [ fhir:value "somatic-diagnostic" ] ] ]; fhir:Observation.subject [ fhir:Reference.reference [ fhir:value "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d" ] ]; fhir:Observation.performer [ fhir:index 0; fhir:Reference.reference [ fhir:value "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef" ] ]; fhir:Observation.valueCodeableConcept [ fhir:CodeableConcept.text [ fhir:value "Supportive" ] ]; fhir:Observation.method [ fhir:CodeableConcept.coding [ fhir:index 0; a loinc:LA26811-2; fhir:Coding.system [ fhir:value "http://loinc.org" ]; fhir:Coding.code [ fhir:value "LA26811-2" ]; fhir:Coding.display [ fhir:value "Computational analysis" ] ] ]; fhir:Observation.specimen [ fhir:Reference.reference [ fhir:value "urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d" ] ]; fhir:Observation.derivedFrom [ fhir:index 0; fhir:Reference.reference [ fhir:value "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d" ] ]; fhir:Observation.component [ fhir:index 0; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0; a loinc:93044-6; fhir:Coding.system [ fhir:value "http://loinc.org" ]; fhir:Coding.code [ fhir:value "93044-6" ]; fhir:Coding.display [ fhir:value "Level of Evidence" ] ] ]; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.text [ fhir:value "AMP/ASCO/CAP guidelines - Level A" ] ] ], [ fhir:index 1; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0; fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes" ]; fhir:Coding.code [ fhir:value "associated-cancer" ] ] ]; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.text [ fhir:value "melanoma" ] ] ]. <urn:uuid:ad7a499b-a43b-4cc8-bf46-cac62d9ecae5> a fhir:DiagnosticReport; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-report"; fhir:index 0; fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-report> ] ]; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ]; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative with Details</b></p><p><b>meta</b>: </p><p><b>status</b>: final</p><p><b>code</b>: Genetic analysis report <span style=\"background: LightGoldenRodYellow\">(Details : {LOINC code '81247-9' = 'Master HL7 genetic variant reporting panel', given as 'Master HL7 genetic variant reporting panel'})</span></p><p><b>subject</b>: <a href=\"urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d\">urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d</a></p><p><b>performer</b>: <a href=\"urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef\">urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef</a></p><p><b>specimen</b>: <a href=\"urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d\">urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d</a></p><p><b>result</b>: </p><ul><li><a href=\"urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d\">BRAF V600E mutation observed</a></li><li><a href=\"urn:uuid:1bf9642d-fd1c-4819-8c5d-44fae4bad524\">melanoma implicated</a></li></ul></div>" ]; fhir:DiagnosticReport.status [ fhir:value "final"]; fhir:DiagnosticReport.code [ fhir:CodeableConcept.coding [ fhir:index 0; a loinc:81247-9; fhir:Coding.system [ fhir:value "http://loinc.org" ]; fhir:Coding.code [ fhir:value "81247-9" ]; fhir:Coding.display [ fhir:value "Master HL7 genetic variant reporting panel" ] ]; fhir:CodeableConcept.text [ fhir:value "Genetic analysis report" ] ]; fhir:DiagnosticReport.subject [ fhir:Reference.reference [ fhir:value "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d" ] ]; fhir:DiagnosticReport.performer [ fhir:index 0; fhir:Reference.reference [ fhir:value "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef" ] ]; fhir:DiagnosticReport.specimen [ fhir:index 0; fhir:Reference.reference [ fhir:value "urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d" ] ]; fhir:DiagnosticReport.result [ fhir:index 0; fhir:Reference.reference [ fhir:value "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d" ]; fhir:Reference.display [ fhir:value "BRAF V600E mutation observed" ] ], [ fhir:index 1; fhir:Reference.reference [ fhir:value "urn:uuid:1bf9642d-fd1c-4819-8c5d-44fae4bad524" ]; fhir:Reference.display [ fhir:value "melanoma implicated" ] ]. # - ontology header ------------------------------------------------------------ a owl:Ontology; owl:imports fhir:fhir.ttl.
IG © 2017+ HL7 International Clinical Genomics Work Group. Package hl7.fhir.uv.genomics-reporting#1.0.0 based on FHIR 4.0.1. Generated 2019-11-20
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