Genomics Reporting Implementation Guide
3.0.0 - STU3
Genomics Reporting Implementation Guide
3.0.0 - STU3
This page is part of the Genetic Reporting Implementation Guide (v3.0.0: STU3) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions
| Active as of 2024-12-12 |
<OperationDefinition xmlns="http://hl7.org/fhir">
<id value="find-subject-molecular-consequences"/>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: OperationDefinition find-subject-molecular-consequences</b></p><a name="find-subject-molecular-consequences"> </a><a name="hcfind-subject-molecular-consequences"> </a><a name="find-subject-molecular-consequences-en-US"> </a><h3>Parameters</h3><table class="grid"><tr><td><b>Use</b></td><td><b>Name</b></td><td><b>Scope</b></td><td><b>Cardinality</b></td><td><b>Type</b></td><td><b>Binding</b></td><td><b>Documentation</b></td></tr><tr><td>IN</td><td>subject</td><td/><td>1..1</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#string">string</a><br/>(<a href="http://hl7.org/fhir/R4/search.html#reference">reference</a>)</td><td/><td><div><p>The subject of interest.</p>
</div></td></tr><tr><td>IN</td><td>variants</td><td/><td>0..*</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#string">string</a><br/>(<a href="http://hl7.org/fhir/R4/search.html#string">string</a>)</td><td/><td><div><p>List of variants from which consequences are derived. Must be in HGVS or SPDI format.</p>
</div></td></tr><tr><td>IN</td><td>ranges</td><td/><td>0..*</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#string">string</a><br/>(<a href="http://hl7.org/fhir/R4/search.html#special">special</a>)</td><td/><td><div><p>List of regions to be searched for variants. Must be in zero-based RefSeq:Integer-range format (e.g. 'NC_000007.14:55174721-55174820').</p>
</div></td></tr><tr><td>IN</td><td>featureConsequences</td><td/><td>0..*</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#string">string</a><br/>(<a href="http://hl7.org/fhir/R4/search.html#token">token</a>)</td><td/><td><div><p>List of consequences sought. Must be in token or codesystem|code format. (These will generally be coded with Sequence Ontology codes under SO:0001537)</p>
</div></td></tr><tr><td>IN</td><td>testIdentifiers</td><td/><td>0..*</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#string">string</a><br/>(<a href="http://hl7.org/fhir/R4/search.html#token">token</a>)</td><td/><td><div><p>Supply a list of test identifiers. Only results originating from one of these tests will be returned.</p>
</div></td></tr><tr><td>IN</td><td>testDateRange</td><td/><td>0..1</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#Period">Period</a></td><td/><td><div><p>Supply a date range. Only results generated during this range will be returned.</p>
</div></td></tr><tr><td>IN</td><td>specimenIdentifiers</td><td/><td>0..*</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#string">string</a><br/>(<a href="http://hl7.org/fhir/R4/search.html#token">token</a>)</td><td/><td><div><p>Supply a list of specimen identifiers. Only results derived from one of these specimens will be returned.</p>
</div></td></tr><tr><td>IN</td><td>genomicSourceClass</td><td/><td>0..1</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#string">string</a><br/>(<a href="http://hl7.org/fhir/R4/search.html#token">token</a>)</td><td/><td><div><p>Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class.</p>
</div></td></tr><tr><td>OUT</td><td>consequence</td><td/><td>0..*</td><td><a href="http://hl7.org/fhir/R4/observation.html">Observation</a></td><td/><td><div><p>Consequences must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence]. The target(s) of the consequence's derivedFrom shall also be included in the response.</p>
</div></td></tr><tr><td>OUT</td><td>variant</td><td/><td>0..*</td><td><a href="http://hl7.org/fhir/R4/observation.html">Observation</a></td><td/><td><div><p>Variants must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant].</p>
</div></td></tr></table></div>
</text>
<extension
url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
<valueCode value="cg"/>
</extension>
<url
value="http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-subject-molecular-consequences"/>
<version value="3.0.0"/>
<name value="FindSubjectMolecularConsequences"/>
<title value="Find Subject Molecular Consequences"/>
<status value="active"/>
<kind value="operation"/>
<date value="2024-12-12T20:43:36+00:00"/>
<publisher value="HL7 International / Clinical Genomics"/>
<contact>
<name value="HL7 International / Clinical Genomics"/>
<telecom>
<system value="url"/>
<value value="http://www.hl7.org/Special/committees/clingenomics"/>
</telecom>
<telecom>
<system value="email"/>
<value value="cg@lists.HL7.org"/>
</telecom>
</contact>
<description value="Retrieves molecular consequences of a DNA variant."/>
<jurisdiction>
<coding>
<system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
<code value="001"/>
<display value="World"/>
</coding>
</jurisdiction>
<code value="match"/>
<system value="false"/>
<type value="true"/>
<instance value="false"/>
<parameter>
<name value="subject"/>
<use value="in"/>
<min value="1"/>
<max value="1"/>
<documentation value="The subject of interest."/>
<type value="string"/>
<searchType value="reference"/>
</parameter>
<parameter>
<name value="variants"/>
<use value="in"/>
<min value="0"/>
<max value="*"/>
<documentation
value="List of variants from which consequences are derived. Must be in HGVS or SPDI format."/>
<type value="string"/>
<searchType value="string"/>
</parameter>
<parameter>
<name value="ranges"/>
<use value="in"/>
<min value="0"/>
<max value="*"/>
<documentation
value="List of regions to be searched for variants. Must be in zero-based RefSeq:Integer-range format (e.g. 'NC_000007.14:55174721-55174820')."/>
<type value="string"/>
<searchType value="special"/>
</parameter>
<parameter>
<name value="featureConsequences"/>
<use value="in"/>
<min value="0"/>
<max value="*"/>
<documentation
value="List of consequences sought. Must be in token or codesystem|code format. (These will generally be coded with Sequence Ontology codes under SO:0001537)"/>
<type value="string"/>
<searchType value="token"/>
</parameter>
<parameter>
<name value="testIdentifiers"/>
<use value="in"/>
<min value="0"/>
<max value="*"/>
<documentation
value="Supply a list of test identifiers. Only results originating from one of these tests will be returned."/>
<type value="string"/>
<searchType value="token"/>
</parameter>
<parameter>
<name value="testDateRange"/>
<use value="in"/>
<min value="0"/>
<max value="1"/>
<documentation
value="Supply a date range. Only results generated during this range will be returned."/>
<type value="Period"/>
</parameter>
<parameter>
<name value="specimenIdentifiers"/>
<use value="in"/>
<min value="0"/>
<max value="*"/>
<documentation
value="Supply a list of specimen identifiers. Only results derived from one of these specimens will be returned."/>
<type value="string"/>
<searchType value="token"/>
</parameter>
<parameter>
<name value="genomicSourceClass"/>
<use value="in"/>
<min value="0"/>
<max value="1"/>
<documentation
value="Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class."/>
<type value="string"/>
<searchType value="token"/>
</parameter>
<parameter>
<extension
url="http://hl7.org/fhir/StructureDefinition/operationdefinition-profile">
<valueUri
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence"/>
</extension>
<name value="consequence"/>
<use value="out"/>
<min value="0"/>
<max value="*"/>
<documentation
value="Consequences must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence]. The target(s) of the consequence's derivedFrom shall also be included in the response."/>
<type value="Observation"/>
</parameter>
<parameter>
<extension
url="http://hl7.org/fhir/StructureDefinition/operationdefinition-profile">
<valueUri
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"/>
</extension>
<name value="variant"/>
<use value="out"/>
<min value="0"/>
<max value="*"/>
<documentation
value="Variants must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant]."/>
<type value="Observation"/>
</parameter>
</OperationDefinition>
IG © 2022+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#3.0.0 based on FHIR 4.0.1. Generated 2024-12-12
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