Genomics Reporting Implementation Guide
1.1.0 - Ballot
Genomics Reporting Implementation Guide
1.1.0 - Ballot
This page is part of the Genetic Reporting Implementation Guide (v1.1.0: STU 2 Ballot 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 
{
"resourceType" : "Bundle",
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"type" : "transaction",
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"fullUrl" : "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d",
"resource" : {
"resourceType" : "Observation",
"meta" : {
"profile" : [
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
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"text" : {
"status" : "generated",
"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>value</b>: Present <span style=\"background: LightGoldenRodYellow\">(Details : {LOINC code 'LA9633-4' = 'Present', given as 'Present'})</span></p><h3>Components</h3><table class=\"grid\"><tr><td>-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td>*</td><td>DNA change (c.HGVS) <span style=\"background: LightGoldenRodYellow\">(Details : {LOINC code '48004-6' = 'DNA change (c.HGVS)', given as 'DNA change (c.HGVS)'})</span></td><td>NM_022787.3:c.769G>A <span style=\"background: LightGoldenRodYellow\">(Details : {http://varnomen.hgvs.org code 'null' = 'null', given as 'NM_022787.3:c.769G>A'})</span></td></tr></table></div>"
},
"status" : "final",
"category" : [
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"coding" : [
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"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
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"code" : {
"coding" : [
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"system" : "http://loinc.org",
"code" : "69548-6",
"display" : "Genetic variant assessment"
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"valueCodeableConcept" : {
"coding" : [
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"system" : "http://loinc.org",
"code" : "LA9633-4",
"display" : "Present"
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"component" : [
{
"code" : {
"coding" : [
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"system" : "http://loinc.org",
"code" : "51958-7",
"display" : "Transcript ref sequence ID"
}
]
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"valueCodeableConcept" : {
"coding" : [
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"system" : "http://www.ncbi.nlm.nih.gov/refseq",
"code" : "NM_022787.3",
"display" : "NM_022787.3"
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]
}
},
{
"code" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes",
"code" : "exact-start-end",
"display" : "Variant exact start and end"
}
]
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"valueRange" : {
"low" : {
"value" : 769
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"high" : {
"value" : 769
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},
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "69547-8",
"display" : "Genomic ref allele [ID]"
}
]
},
"valueString" : "G"
},
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "69551-0",
"display" : "Genomic alt allele [ID]"
}
]
},
"valueString" : "A"
}
]
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"request" : {
"method" : "POST",
"url" : "Observation"
}
},
{
"fullUrl" : "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e",
"resource" : {
"resourceType" : "Observation",
"meta" : {
"profile" : [
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
]
},
"text" : {
"status" : "generated",
"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>value</b>: Present <span style=\"background: LightGoldenRodYellow\">(Details : {LOINC code 'LA9633-4' = 'Present', given as 'Present'})</span></p><h3>Components</h3><table class=\"grid\"><tr><td>-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td>*</td><td>DNA change (c.HGVS) <span style=\"background: LightGoldenRodYellow\">(Details : {LOINC code '48004-6' = 'DNA change (c.HGVS)', given as 'DNA change (c.HGVS)'})</span></td><td>NM_022787.3:c.53A>G <span style=\"background: LightGoldenRodYellow\">(Details : {http://varnomen.hgvs.org code 'null' = 'null', given as 'NM_022787.3:c.53A>G'})</span></td></tr></table></div>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
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"code" : {
"coding" : [
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"system" : "http://loinc.org",
"code" : "69548-6",
"display" : "Genetic variant assessment"
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]
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"valueCodeableConcept" : {
"coding" : [
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"system" : "http://loinc.org",
"code" : "LA9633-4",
"display" : "Present"
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]
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"component" : [
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "51958-7",
"display" : "Transcript ref sequence ID"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.ncbi.nlm.nih.gov/refseq",
"code" : "NM_022787.3",
"display" : "NM_022787.3"
}
]
}
},
{
"code" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes",
"code" : "exact-start-end",
"display" : "Variant exact start and end"
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]
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"valueRange" : {
"low" : {
"value" : 53
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"high" : {
"value" : 53
}
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},
{
"code" : {
"coding" : [
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"system" : "http://loinc.org",
"code" : "69547-8",
"display" : "Genomic ref allele [ID]"
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]
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"valueString" : "A"
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{
"code" : {
"coding" : [
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"system" : "http://loinc.org",
"code" : "69551-0",
"display" : "Genomic alt allele [ID]"
}
]
},
"valueString" : "G"
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]
},
"request" : {
"method" : "POST",
"url" : "Observation"
}
},
{
"fullUrl" : "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12a",
"resource" : {
"resourceType" : "Observation",
"meta" : {
"profile" : [
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
]
},
"text" : {
"status" : "generated",
"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>value</b>: Present <span style=\"background: LightGoldenRodYellow\">(Details : {LOINC code 'LA9633-4' = 'Present', given as 'Present'})</span></p><p><b>hasMember</b>: </p><ul><li>NM_022787.3:c.53A>G</li><li/></ul><h3>Components</h3><table class=\"grid\"><tr><td>-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td>*</td><td>Complex Variant Type <span style=\"background: LightGoldenRodYellow\">(Details : {LOINC code '81263-6' = 'Complex variant type', given as 'Complex Variant Type'})</span></td><td>Compound heterozygous <span style=\"background: LightGoldenRodYellow\">(Details : {LOINC code 'LA26217-2' = 'Compound heterozygous', given as 'Compound heterozygous'})</span></td></tr></table></div>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "69548-6",
"display" : "Genetic variant assessment"
}
]
},
"valueCodeableConcept" : {
"coding" : [
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"system" : "http://loinc.org",
"code" : "LA9633-4",
"display" : "Present"
}
]
},
"hasMember" : [
{
"reference" : "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e",
"display" : "unpacked representation of NM_022787.3:c.53A>G"
},
{
"reference" : "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d",
"display" : "unpacked representation of NM_022787.3:c.769G>A"
}
],
"component" : [
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "81263-6",
"display" : "Complex Variant Type"
}
]
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"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "LA26217-2",
"display" : "Compound heterozygous"
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]
}
}
]
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"request" : {
"method" : "POST",
"url" : "Observation"
}
}
]
}
IG © 2019+ HL7 International Clinical Genomics Work Group. Package hl7.fhir.uv.genomics-reporting#1.1.0 based on FHIR 4.0.1. Generated 2021-04-13
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