This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions
: obs-idh-ex - XML Representation
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<Observation xmlns="http://hl7.org/fhir">
<id value="obs-idh-ex"/>
<meta>
<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><b>Generated Narrative: Observation</b><a name="obs-idh-ex"> </a></p><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">Resource Observation "obs-idh-ex" </p><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-diagnostic-implication.html">Diagnostic Implication</a></p></div><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="http://terminology.hl7.org/5.3.0/CodeSystem-observation-category.html">Observation Category Codes</a>#laboratory)</span>, Genetics <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="http://terminology.hl7.org/5.3.0/CodeSystem-v2-0074.html">diagnosticServiceSectionId</a>#GE)</span></p><p><b>code</b>: Diagnostic Implication <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="CodeSystem-tbd-codes-cs.html">To Be Determined Codes</a>#diagnostic-implication)</span></p><p><b>subject</b>: <a href="Patient-HG00403.html">Patient/HG00403</a> " EVERYONE"</p><p><b>effective</b>: 2023-06-01</p><p><b>performer</b>: <a href="Organization-ExampleLab.html">Organization/ExampleLab</a> "Some lab"</p><p><b>derivedFrom</b>: <a href="Observation-SNVexample.html">Observation/SNVexample</a></p><blockquote><p><b>component</b></p><p><b>Related Artifact for Observation component</b>: </p><p><b>code</b>: Genetic variation clinical significance [Imp] <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#53037-8)</span></p><p><b>value</b>: Pathogenic <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#LA6668-3)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Associated phenotype <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#81259-4)</span></p><p><b>value</b>: Cystic fibrosis <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="http://terminology.hl7.org/5.3.0/CodeSystem-MONDO.html">Mondo Disease Ontology</a>#MONDO:0009061 "cystic fibrosis")</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Condition Inheritance <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="CodeSystem-tbd-codes-cs.html">To Be Determined Codes</a>#condition-inheritance)</span></p><p><b>value</b>: Autosomal recessive inheritance <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="http://terminology.hl7.org/5.3.0/CodeSystem-HPO.html">Human Phenotype Ontology</a>#HP:0000007)</span></p></blockquote></div>
</text>
<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/HG00403"/>
</subject>
<effectiveDateTime value="2023-06-01"/>
<performer>🔗
<reference value="Organization/ExampleLab"/>
</performer>
<derivedFrom>🔗
<reference value="Observation/SNVexample"/>
</derivedFrom>
<component>
<extension
url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/related-artifact-component">
<valueRelatedArtifact>
<type value="citation"/>
<url
value="https://www.ncbi.nlm.nih.gov/clinvar/variation/53685/#clinical-assertions"/>
</valueRelatedArtifact>
</extension>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="53037-8"/>
<display value="Genetic variation clinical significance [Imp]"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://loinc.org"/>
<code value="LA6668-3"/>
<display value="Pathogenic"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="81259-4"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://purl.obolibrary.org/obo/mondo.owl"/>
<code value="MONDO:0009061"/>
<display value="cystic fibrosis"/>
</coding>
<text value="Cystic fibrosis"/>
</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>
<system value="http://human-phenotype-ontology.org"/>
<code value="HP:0000007"/>
<display value="Autosomal recessive inheritance"/>
</coding>
</valueCodeableConcept>
</component>
</Observation>
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