minimal Common Oncology Data Elements (mCODE) Implementation Guide, published by HL7 International / Clinical Interoperability Council. This guide is not an authorized publication; it is the continuous build for version 4.0.0-ballot built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/fhir-mCODE-ig/ and changes regularly. See the Directory of published versions
{
"resourceType" : "Observation",
"id" : "gx-genomic-variant-somatic-cdkn2a-cnv",
"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant"
]
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"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation gx-genomic-variant-somatic-cdkn2a-cnv</b></p><a name=\"gx-genomic-variant-somatic-cdkn2a-cnv\"> </a><a name=\"hcgx-genomic-variant-somatic-cdkn2a-cnv\"> </a><a name=\"gx-genomic-variant-somatic-cdkn2a-cnv-en-US\"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</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=\"Patient-gx-cancer-patient-adam-anyperson.html\">Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)</a></p><p><b>effective</b>: 2019-04-01</p><p><b>performer</b>: <a href=\"Practitioner-us-core-practitioner-owen-oncologist.html\">Practitioner Owen Oncologist </a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes:{http://loinc.org LA26398-0}\">Sequencing</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org HGNC:1787}, {https://www.ncbi.nlm.nih.gov/gene 1029}\">CDKN2A</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48002-0}\">Genomic source class [Type]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6684-0}\">Somatic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs molecular-consequence}\">Molecular Consequence</span></p><p><b>value</b>: <span title=\"Codes:{http://www.sequenceontology.org/ SO:0001743}\">copy_number_loss</span></p></blockquote><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></div>"
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"status" : "final",
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"coding" : [
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"code" : "laboratory"
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],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "69548-6"
}
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},
"subject" : {
🔗 "reference" : "Patient/gx-cancer-patient-adam-anyperson"
},
"effectiveDateTime" : "2019-04-01",
"performer" : [
{
🔗 "reference" : "Practitioner/us-core-practitioner-owen-oncologist"
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"display" : "Sequencing"
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"component" : [
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"valueCodeableConcept" : {
"coding" : [
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"system" : "http://www.genenames.org",
"code" : "HGNC:1787",
"display" : "CDKN2A"
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"system" : "https://www.ncbi.nlm.nih.gov/gene",
"code" : "1029",
"display" : "CDKN2A"
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{
"code" : {
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"system" : "http://loinc.org",
"code" : "48002-0"
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"valueCodeableConcept" : {
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"system" : "http://loinc.org",
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"display" : "Somatic"
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{
"code" : {
"coding" : [
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"system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
"code" : "molecular-consequence"
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"valueCodeableConcept" : {
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"system" : "http://www.sequenceontology.org/",
"code" : "SO:0001743",
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