GenomeX Data Exchange FHIR IG
0.2.0 - draft
GenomeX Data Exchange FHIR IG, published by MITRE. This guide is not an authorized publication; it is the continuous build for version 0.2.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/CodeX-HL7-FHIR-Accelerator/GenomeX-DataExchange/ and changes regularly. See the Directory of published versions
{
"resourceType" : "Observation",
"id" : "PrenatalDiagImpAutosomalRecessiveSAoCSPatientMale",
"meta" : {
"versionId" : "1",
"lastUpdated" : "2024-09-25T00:01:34.798+00:00",
"source" : "#hrQE3dHjuHuJ5zkf",
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"
]
},
"text" : {
"status" : "extensions",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation PrenatalDiagImpAutosomalRecessiveSAoCSPatientMale</b></p><a name=\"PrenatalDiagImpAutosomalRecessiveSAoCSPatientMale\"> </a><a name=\"hcPrenatalDiagImpAutosomalRecessiveSAoCSPatientMale\"> </a><a name=\"PrenatalDiagImpAutosomalRecessiveSAoCSPatientMale-en-US\"> </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\">version: 1; Last updated: 2024-09-25 00:01:34+0000; </p><p style=\"margin-bottom: 0px\">Information Source: #hrQE3dHjuHuJ5zkf</p><p style=\"margin-bottom: 0px\">Profile: <a href=\"http://hl7.org/fhir/uv/genomics-reporting/2024Jan/StructureDefinition-diagnostic-implication.html\">Diagnostic Implication</a></p></div><p><b>Genomic Risk Assessment</b>: <a href=\"RiskAssessment-PrenatalResidualRiskAutosomalRecessiveSAoCSPatientMale.html\">autosomal recessive spastic ataxia of Charlevoix-Saguenay Residual Risk</a></p><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=\"Patient-PatientMale.html\">Higado Sobreviviente (official) Male, DoB: 1996-05-13 ( Patient ID: fec6172efdca41b4a13341e75cb62e0f\u00a0(use:\u00a0official,\u00a0))</a></p><p><b>effective</b>: 2024-07-09</p><p><b>performer</b>: <a href=\"Practitioner-PractitionerLabDirector.html\">Practitioner PractitionerJane Smith </a></p><p><b>derivedFrom</b>: <a href=\"Observation-PrenatalVariantAutosomalRecessiveSAoCSPatientMale.html\">Observation Genetic variant assessment</a></p><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 312969002}\">Normal genetic findings (finding)</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 702445005}\">ARSACS - autosomal recessive spastic ataxia of Charlevoix-Saguenay</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 condition-inheritance}\">Condition Inheritance</span></p><p><b>value</b>: <span title=\"Codes:\">Autosomal recessive inheritance</span></p></blockquote></div>"
},
"extension" : [
{
"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment",
"valueReference" : {
🔗 "reference" : "RiskAssessment/PrenatalResidualRiskAutosomalRecessiveSAoCSPatientMale",
"display" : "autosomal recessive spastic ataxia of Charlevoix-Saguenay Residual Risk"
}
}
],
"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",
"display" : "Diagnostic Implication"
}
]
},
"subject" : {
🔗 "reference" : "Patient/PatientMale"
},
"effectiveDateTime" : "2024-07-09",
"performer" : [
{
🔗 "reference" : "Practitioner/PractitionerLabDirector"
}
],
"derivedFrom" : [
{
🔗 "reference" : "Observation/PrenatalVariantAutosomalRecessiveSAoCSPatientMale"
}
],
"component" : [
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "81259-4",
"display" : "Associated phenotype"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "312969002",
"display" : "Normal genetic findings (finding)"
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]
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},
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "81259-4",
"display" : "Associated phenotype"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "702445005",
"display" : "ARSACS - autosomal recessive spastic ataxia of Charlevoix-Saguenay"
}
]
}
},
{
"code" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
"code" : "condition-inheritance"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"code" : "HP:0000007",
"display" : "Autosomal recessive inheritance"
}
]
}
}
]
}