This page is part of the FHIR Specification (v3.3.0: R4 Ballot 2). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions . Page versions: R4B R4 R3
Orders and Observations Work Group | Maturity Level: N/A | Ballot Status: Informative |
Gene
<StructureDefinition xmlns="http://hl7.org/fhir"> <id value="observation-geneticsGene"/> <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"> <valueCode value="oo"/> </extension> <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm"> <valueInteger value="1"/> </extension> <url value="http://hl7.org/fhir/StructureDefinition/observation-geneticsGene"/> <name value="Gene"/> <status value="draft"/> <date value="2016-03-14"/> <publisher value="Health Level Seven International (Clinical Genomics)"/> <contact> <telecom> <system value="url"/> <value value="http://www.hl7.org/Special/committees/clingenomics"/> </telecom> </contact> <description value="A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions ([SO:0000704](http://www.sequenceontology.org/browser/current_svn/ term/SO:0000704)). This element is the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name ([HGNC](http://www.genenames.org)). LOINC Code: ([48018-6](http://loinc.org/48018-6))."/> <fhirVersion value="3.3.0"/> <mapping> <identity value="rim"/> <uri value="http://hl7.org/v3"/> <name value="RIM Mapping"/> </mapping> <kind value="complex-type"/> <abstract value="false"/> <context> <type value="element"/> <expression value="Observation"/> </context> <type value="Extension"/> <baseDefinition value="http://hl7.org/fhir/StructureDefinition/Extension"/> <derivation value="constraint"/> <snapshot> <element id="Extension"> <path value="Extension"/> <short value="HGNC gene symbol"/> <definition value="A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions ([SO:0000704](http://www.sequenceontology.org/browser/current_svn/ term/SO:0000704)). This element is the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name ([HGNC](http://www.genenames.org)). LOINC Code: ([48018-6](http://loinc.org/48018-6))."/> <comment value="Other systems or genes not defined in HGNC (e.g., BCR-ABL fusion gene) can be added by using a local extension."/> <min value="0"/> <max value="1"/> <base> <path value="Extension"/> <min value="0"/> <max value="*"/> </base> <condition value="ele-1"/> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() | (children().count() > id.count())"/> <xpath value="@value|f:*|h:div"/> <source value="Element"/> </constraint> <constraint> <key value="ext-1"/> <severity value="error"/> <human value="Must have either extensions or value[x], not both"/> <expression value="extension.exists() != value.exists()"/> <xpath value="exists(f:extension)!=exists(f:*[starts-with(local-name(.), 'value')])"/> <source value="Extension"/> </constraint> <isModifier value="false"/> </element> <element id="Extension.id"> <path value="Extension.id"/> <representation value="xmlAttr"/> <short value="xml:id (or equivalent in JSON)"/> <definition value="Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces."/> <min value="0"/> <max value="1"/> <base> <path value="Element.id"/> <min value="0"/> <max value="1"/> </base> <type> <code value="string"/> </type> <isModifier value="false"/> <isSummary value="false"/> <mapping> <identity value="rim"/> <map value="n/a"/> </mapping> </element> <element id="Extension.extension"> <path value="Extension.extension"/> <slicing> <discriminator> <type value="value"/> <path value="url"/> </discriminator> <description value="Extensions are always sliced by (at least) url"/> <rules value="open"/> </slicing> <short value="Extension"/> <definition value="An Extension"/> <min value="0"/> <max value="0"/> <base> <path value="Element.extension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <isModifier value="false"/> <isSummary value="false"/> </element> <element id="Extension.url"> <path value="Extension.url"/> <representation value="xmlAttr"/> <short value="identifies the meaning of the extension"/> <definition value="Source of the definition for the extension code - a logical name or a URL."/> <comment value="The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension."/> <min value="1"/> <max value="1"/> <base> <path value="Extension.url"/> <min value="1"/> <max value="1"/> </base> <type> <code value="uri"/> </type> <fixedUri value="http://hl7.org/fhir/StructureDefinition/observation-geneticsGene"/> <isModifier value="false"/> <isSummary value="false"/> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="Extension.valueCodeableConcept"> <path value="Extension.valueCodeableConcept"/> <short value="Value of extension"/> <definition value="Value of extension - may be a resource or one of a constrained set of the data types (see Extensibility in the spec for list)."/> <min value="0"/> <max value="1"/> <base> <path value="Extension.value[x]"/> <min value="0"/> <max value="1"/> </base> <type> <code value="CodeableConcept"/> </type> <isModifier value="false"/> <isSummary value="false"/> <binding> <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName"> <valueString value="HGNC-geneIdentifiers"/> </extension> <strength value="preferred"/> <description value="International curated set of gene identifiers"/> <valueSetUri value="http://www.genenames.org"/> </binding> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> </snapshot> <differential> <element id="Extension"> <path value="Extension"/> <short value="HGNC gene symbol"/> <definition value="A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions ([SO:0000704](http://www.sequenceontology.org/browser/current_svn/ term/SO:0000704)). This element is the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name ([HGNC](http://www.genenames.org)). LOINC Code: ([48018-6](http://loinc.org/48018-6))."/> <comment value="Other systems or genes not defined in HGNC (e.g., BCR-ABL fusion gene) can be added by using a local extension."/> <min value="0"/> <max value="1"/> </element> <element id="Extension.extension"> <path value="Extension.extension"/> <max value="0"/> </element> <element id="Extension.url"> <path value="Extension.url"/> <type> <code value="uri"/> </type> <fixedUri value="http://hl7.org/fhir/StructureDefinition/observation-geneticsGene"/> </element> <element id="Extension.valueCodeableConcept"> <path value="Extension.valueCodeableConcept"/> <type> <code value="CodeableConcept"/> </type> <binding> <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName"> <valueString value="HGNC-geneIdentifiers"/> </extension> <strength value="preferred"/> <description value="International curated set of gene identifiers"/> <valueSetUri value="http://www.genenames.org"/> </binding> </element> </differential> </StructureDefinition>
Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.