Molecular Definition Implementation Guide for Molecular Data Types
1.0.0-ballot1 - ci-build
Molecular Definition Implementation Guide for Molecular Data Types, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 1.0.0-ballot1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/molecular-definition-data-types/ and changes regularly. See the Directory of published versions
<MolecularDefinition xmlns="http://hl7.org/fhir">
<id value="example-variation-cyp2c19-1015-spdi"/>
<meta>
<profile
value="http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/variation"/>
</meta>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: MolecularDefinition example-variation-cyp2c19-1015-spdi</b></p><a name="example-variation-cyp2c19-1015-spdi"> </a><a name="hcexample-variation-cyp2c19-1015-spdi"> </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-variation.html">Variation</a></p></div><p><b>moleculeType</b>: <span title="Codes:{http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type dna}">DNA Sequence</span></p><p><b>type</b>: <span title="Codes:{http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type dna}">DNA Sequence</span></p><blockquote><p><b>location</b></p><blockquote><p><b>sequenceLocation</b></p><p><b>sequenceContext</b>: <a href="MolecularDefinition-example-sequence-nm0007694-url.html">Starting Sequence Resource: (CYP2C19), mRNA, NM_000769.4</a></p><blockquote><p><b>coordinateInterval</b></p><h3>CoordinateSystems</h3><table class="grid"><tr><td style="display: none">-</td><td><b>System</b></td></tr><tr><td style="display: none">*</td><td><span title="Codes:{http://loinc.org LA30100-4}">0-based interval counting</span></td></tr></table><p><b>start</b>: 1015</p></blockquote></blockquote></blockquote><blockquote><p><b>representation</b></p><p><b>focus</b>: <span title="Codes:{http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecular-definition-focus reference-state}">Reference State</span></p><h3>Literals</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Value</b></td></tr><tr><td style="display: none">*</td><td>A</td></tr></table></blockquote><blockquote><p><b>representation</b></p><p><b>focus</b>: <span title="Codes:{http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecular-definition-focus alternative-state}">Alternative State</span></p><h3>Literals</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Value</b></td></tr><tr><td style="display: none">*</td><td>G</td></tr></table></blockquote></div>
</text>
<moleculeType>
<coding>
<system
value="http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type"/>
<code value="dna"/>
<display value="DNA Sequence"/>
</coding>
</moleculeType>
<type>
<coding>
<system
value="http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type"/>
<code value="dna"/>
<display value="DNA Sequence"/>
</coding>
</type>
<location>
<sequenceLocation>
<sequenceContext>🔗
<reference
value="MolecularDefinition/example-sequence-nm0007694-url"/>
<type value="MolecularDefinition"/>
<display
value="Starting Sequence Resource: (CYP2C19), mRNA, NM_000769.4"/>
</sequenceContext>
<coordinateInterval>
<coordinateSystem>
<system>
<coding>
<system value="http://loinc.org"/>
<code value="LA30100-4"/>
<display value="0-based interval counting"/>
</coding>
</system>
</coordinateSystem>
<startQuantity>
<value value="1015"/>
</startQuantity>
</coordinateInterval>
</sequenceLocation>
</location>
<representation>
<focus>
<coding>
<system
value="http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecular-definition-focus"/>
<code value="reference-state"/>
<display value="Reference State"/>
</coding>
</focus>
<literal>
<value value="A"/>
</literal>
</representation>
<representation>
<focus>
<coding>
<system
value="http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecular-definition-focus"/>
<code value="alternative-state"/>
<display value="Alternative State"/>
</coding>
</focus>
<literal>
<value value="G"/>
</literal>
</representation>
</MolecularDefinition>