North West Genomic Medicine Service Alliance
0.0.1 - ci-build
DRAFT Implementation Guide
This is for collaboration and discussion purposes and is subject to change.
North West Genomic Medicine Service Alliance - Local Development build (v0.0.1) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
{
"resourceType" : "Observation",
"id" : "m2-diagnostic-implication",
"meta" : {
"profile" : [
🔗 "https://nw-gmsa.github.io/StructureDefinition/Observation-DiagnosticImplication"
]
},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation m2-diagnostic-implication</b></p><a name=\"m2-diagnostic-implication\"> </a><a name=\"hcm2-diagnostic-implication\"> </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-Observation-DiagnosticImplication.html\">Observation Diagnostic Implication</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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></p><p><b>subject</b>: <a href=\"Bundle-FHIRDocumentGeneticReportBundle.html#urn-uuid-d6faafcf-db64-4c11-9da8-25f36774c1bd\">Octavia CHISLETT</a></p><p><b>derivedFrom</b>: <a href=\"Observation-brca1-variant.html\">BRCA1</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53037-8}\">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6668-3}\">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81259-4}\">Associated phenotype</span></p><p><b>value</b>: <span title=\"Codes:{http://snomed.info/sct 307726001}, {https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory M2}\">Anaemia in ovarian carcinoma</span></p></blockquote></div>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
}
]
},
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
"code" : "GE"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
"code" : "diagnostic-implication"
}
]
},
"subject" : {
"reference" : "urn:uuid:d6faafcf-db64-4c11-9da8-25f36774c1bd",
"identifier" : {
"system" : "https://fhir.nhs.uk/Id/nhs-number",
"value" : "9449305552"
},
"display" : "Octavia CHISLETT"
},
"derivedFrom" : [
{
🔗 "reference" : "Observation/brca1-variant",
"display" : "BRCA1"
}
],
"component" : [
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "53037-8",
"display" : "Genetic variation clinical significance [Imp]"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "LA6668-3",
"display" : "Pathogenic"
}
]
}
},
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "81259-4",
"display" : "Associated phenotype"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "307726001",
"display" : "Anaemia in ovarian carcinoma"
},
{
"system" : "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
"code" : "M2",
"display" : "Ovarian Carcinoma"
}
]
}
}
]
}