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
<Observation xmlns="http://hl7.org/fhir">
<id value="PrenatalDiagImpAutosomalRecessiveSAoCSPatientMale"/>
<meta>
<versionId value="1"/>
<lastUpdated value="2024-09-25T00:01:34.798+00:00"/>
<source value="#hrQE3dHjuHuJ5zkf"/>
<profile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"/>
</meta>
<text>
<status value="extensions"/>
<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 (use: official, ))</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>
</text>
<extension
url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment">
<valueReference>🔗
<reference
value="RiskAssessment/PrenatalResidualRiskAutosomalRecessiveSAoCSPatientMale"/>
<display
value="autosomal recessive spastic ataxia of Charlevoix-Saguenay Residual Risk"/>
</valueReference>
</extension>
<status value="final"/>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="laboratory"/>
</coding>
</category>
<category>
<coding>
<system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
<code value="GE"/>
</coding>
</category>
<code>
<coding>
<system
value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
<code value="diagnostic-implication"/>
<display value="Diagnostic Implication"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/PatientMale"/>
</subject>
<effectiveDateTime value="2024-07-09"/>
<performer>🔗
<reference value="Practitioner/PractitionerLabDirector"/>
</performer>
<derivedFrom>🔗
<reference
value="Observation/PrenatalVariantAutosomalRecessiveSAoCSPatientMale"/>
</derivedFrom>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="81259-4"/>
<display value="Associated phenotype"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://snomed.info/sct"/>
<code value="312969002"/>
<display value="Normal genetic findings (finding)"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="81259-4"/>
<display value="Associated phenotype"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://snomed.info/sct"/>
<code value="702445005"/>
<display
value="ARSACS - autosomal recessive spastic ataxia of Charlevoix-Saguenay"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system
value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
<code value="condition-inheritance"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<code value="HP:0000007"/>
<display value="Autosomal recessive inheritance"/>
</coding>
</valueCodeableConcept>
</component>
</Observation>