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-complexVariant-nonHGVS> a fhir:Bundle ;
fhir:nodeRole fhir:treeRoot ;
fhir:Resource.id [ fhir:value "bundle-complexVariant-nonHGVS"] ;
fhir:Bundle.type [ fhir:value "transaction"] ;
fhir:Bundle.entry [
fhir:index 0 ;
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 1 ;
fhir:Bundle.entry.fullUrl [ fhir:value "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e" ] ;
fhir:Bundle.entry.resource <urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e> ;
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:16fdd5fc-e665-48af-99e4-48d603f3e12a" ] ;
fhir:Bundle.entry.resource <urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12a> ;
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: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 4 ;
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:16fdd5fc-e665-48af-99e4-48d603f3e12d> a fhir:Observation ;
fhir:Resource.id [ fhir:value "Inline-Instance-for-complexVariant-nonHGVS-1"] ;
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_Inline-Instance-for-complexVariant-nonHGVS-1\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation Inline-Instance-for-complexVariant-nonHGVS-1</b></p><a name=\"Inline-Instance-for-complexVariant-nonHGVS-1\"> </a><a name=\"hcInline-Instance-for-complexVariant-nonHGVS-1\"> </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 51958-7}\">Transcript ref sequence ID</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NM_022787.3}\">NM_022787.3</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>: 769-769</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69547-8}\">Genomic ref allele [ID]</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 69551-0}\">Genomic alt allele [ID]</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 53034-5}\">Allelic state</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6706-1}\">Heterozygous</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: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:51958-7 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "51958-7" ] ;
fhir:Coding.display [ fhir:value "Transcript ref 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 "NM_022787.3" ] ;
fhir:Coding.display [ fhir:value "NM_022787.3" ]
]
]
], [
fhir:index 1 ;
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 "769"^^xsd:decimal ]
] ;
fhir:Range.high [
fhir:Quantity.value [ fhir:value "769"^^xsd:decimal ]
]
]
], [
fhir:index 2 ;
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 "Genomic ref allele [ID]" ]
]
] ;
fhir:Observation.component.valueString [ fhir:value "G" ]
], [
fhir:index 3 ;
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 "Genomic alt allele [ID]" ]
]
] ;
fhir:Observation.component.valueString [ fhir:value "A" ]
], [
fhir:index 4 ;
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" ]
]
]
] .
<urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e> a fhir:Observation ;
fhir:Resource.id [ fhir:value "Inline-Instance-for-complexVariant-nonHGVS-2"] ;
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_Inline-Instance-for-complexVariant-nonHGVS-2\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation Inline-Instance-for-complexVariant-nonHGVS-2</b></p><a name=\"Inline-Instance-for-complexVariant-nonHGVS-2\"> </a><a name=\"hcInline-Instance-for-complexVariant-nonHGVS-2\"> </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 51958-7}\">Transcript ref sequence ID</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NM_022787.3}\">NM_022787.3</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>: 53-53</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69547-8}\">Genomic ref allele [ID]</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 69551-0}\">Genomic alt allele [ID]</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 53034-5}\">Allelic state</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6706-1}\">Heterozygous</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: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:51958-7 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "51958-7" ] ;
fhir:Coding.display [ fhir:value "Transcript ref 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 "NM_022787.3" ] ;
fhir:Coding.display [ fhir:value "NM_022787.3" ]
]
]
], [
fhir:index 1 ;
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 "53"^^xsd:decimal ]
] ;
fhir:Range.high [
fhir:Quantity.value [ fhir:value "53"^^xsd:decimal ]
]
]
], [
fhir:index 2 ;
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 "Genomic ref allele [ID]" ]
]
] ;
fhir:Observation.component.valueString [ fhir:value "A" ]
], [
fhir:index 3 ;
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 "Genomic alt allele [ID]" ]
]
] ;
fhir:Observation.component.valueString [ fhir:value "G" ]
], [
fhir:index 4 ;
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" ]
]
]
] .
<urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12a> a fhir:Observation ;
fhir:Resource.id [ fhir:value "Inline-Instance-for-complexVariant-nonHGVS-3"] ;
fhir:Resource.meta [
fhir:Meta.profile [
fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype" ;
fhir:index 0 ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype>
]
] ;
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ] ;
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_Inline-Instance-for-complexVariant-nonHGVS-3\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation Inline-Instance-for-complexVariant-nonHGVS-3</b></p><a name=\"Inline-Instance-for-complexVariant-nonHGVS-3\"> </a><a name=\"hcInline-Instance-for-complexVariant-nonHGVS-3\"> </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-genotype.html\">Genotype</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 84413-4}\">Genotype display name</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://www.ncbi.nlm.nih.gov/clinvar RCV000664188.1}\">NM_022787.3(NMNAT1):c.[53A>G];[769G>A] AND Cone-rod dystrophy</span></p><p><b>hasMember</b>: </p><ul><li><a href=\"Bundle-bundle-complexVariant-nonHGVS.html#urn-uuid-16fdd5fc-e665-48af-99e4-48d603f3e12e\">unpacked representation of NM_022787.3:c.53A>G</a></li><li><a href=\"Bundle-bundle-complexVariant-nonHGVS.html#urn-uuid-16fdd5fc-e665-48af-99e4-48d603f3e12d\">unpacked representation of NM_022787.3:c.769G>A</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:84413-4 ;
fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
fhir:Coding.code [ fhir:value "84413-4" ]
]
] ;
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://www.ncbi.nlm.nih.gov/clinvar" ] ;
fhir:Coding.code [ fhir:value "RCV000664188.1" ] ;
fhir:Coding.display [ fhir:value "NM_022787.3(NMNAT1):c.[53A>G];[769G>A] AND Cone-rod dystrophy" ]
]
] ;
fhir:Observation.hasMember [
fhir:index 0 ;
fhir:Reference.reference [ fhir:value "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e" ] ;
fhir:Reference.display [ fhir:value "unpacked representation of NM_022787.3:c.53A>G" ]
], [
fhir:index 1 ;
fhir:Reference.reference [ fhir:value "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d" ] ;
fhir:Reference.display [ fhir:value "unpacked representation of NM_022787.3:c.769G>A" ]
] .
<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-complexVariant-nonHGVS.ttl> a owl:Ontology ;
owl:imports fhir:fhir.ttl ;
owl:versionIRI <http://build.fhir.org/Bundle/bundle-complexVariant-nonHGVS.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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