This page is part of the FHIR Specification (v4.3.0: R4B - STU). 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 | Standards Status: Informative |
Raw JSON (canonical form + also see JSON Format Specification)
Gene
{ "resourceType" : "StructureDefinition", "id" : "observation-geneticsGene", "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg", "valueCode" : "oo" }, { "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm", "valueInteger" : 1 }], "url" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsGene", "version" : "4.3.0", "name" : "Gene", "status" : "draft", "experimental" : false, "date" : "2016-03-14", "publisher" : "Health Level Seven International (Clinical Genomics)", "contact" : [{ "telecom" : [{ "system" : "url", "value" : "http://www.hl7.org/Special/committees/clingenomics" }] }], "description" : "The material on this page will be removed in a future release. This content is deprecated and SHOULD NOT be used. Implementers are instead directed to the ([Genomics Reporting Implementation Guide](http://hl7.org/fhir/uv/genomics-reporting/index.html)) for guidance. 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" : "4.3.0", "mapping" : [{ "identity" : "rim", "uri" : "http://hl7.org/v3", "name" : "RIM Mapping" }], "kind" : "complex-type", "abstract" : false, "context" : [{ "type" : "element", "expression" : "Observation" }], "type" : "Extension", "baseDefinition" : "http://hl7.org/fhir/StructureDefinition/Extension", "derivation" : "constraint", "snapshot" : { "element" : [{ "id" : "Extension", "path" : "Extension", "short" : "HGNC gene symbol", "definition" : "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" : "Other systems or genes not defined in HGNC (e.g., BCR-ABL fusion gene) can be added by using a local extension.", "min" : 0, "max" : "1", "base" : { "path" : "Extension", "min" : 0, "max" : "*" }, "condition" : ["ele-1"], "constraint" : [{ "key" : "ele-1", "severity" : "error", "human" : "All FHIR elements must have a @value or children unless an empty Parameters resource", "expression" : "hasValue() or (children().count() > id.count()) or $this is Parameters", "xpath" : "@value|f:*|h:div|self::f:Parameters", "source" : "http://hl7.org/fhir/StructureDefinition/Element" }, { "key" : "ext-1", "severity" : "error", "human" : "Must have either extensions or value[x], not both", "expression" : "extension.exists() != value.exists()", "xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), 'value')])", "source" : "http://hl7.org/fhir/StructureDefinition/Extension" }], "isModifier" : false }, { "id" : "Extension.id", "path" : "Extension.id", "representation" : ["xmlAttr"], "short" : "Unique id for inter-element referencing", "definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.", "min" : 0, "max" : "1", "base" : { "path" : "Element.id", "min" : 0, "max" : "1" }, "type" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type", "valueUrl" : "id" }], "code" : "http://hl7.org/fhirpath/System.String" }], "isModifier" : false, "isSummary" : false, "mapping" : [{ "identity" : "rim", "map" : "n/a" }] }, { "id" : "Extension.extension", "path" : "Extension.extension", "slicing" : { "discriminator" : [{ "type" : "value", "path" : "url" }], "description" : "Extensions are always sliced by (at least) url", "rules" : "open" }, "short" : "Extension", "definition" : "An Extension", "min" : 0, "max" : "0", "base" : { "path" : "Element.extension", "min" : 0, "max" : "*" }, "type" : [{ "code" : "Extension" }], "constraint" : [{ "key" : "ele-1", "severity" : "error", "human" : "All FHIR elements must have a @value or children", "expression" : "hasValue() or (children().count() > id.count())", "xpath" : "@value|f:*|h:div", "source" : "http://hl7.org/fhir/StructureDefinition/Element" }, { "key" : "ext-1", "severity" : "error", "human" : "Must have either extensions or value[x], not both", "expression" : "extension.exists() != value.exists()", "xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])", "source" : "http://hl7.org/fhir/StructureDefinition/Extension" }], "isModifier" : false, "isSummary" : false }, { "id" : "Extension.url", "path" : "Extension.url", "representation" : ["xmlAttr"], "short" : "identifies the meaning of the extension", "definition" : "Source of the definition for the extension code - a logical name or a URL.", "comment" : "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" : 1, "max" : "1", "base" : { "path" : "Extension.url", "min" : 1, "max" : "1" }, "type" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type", "valueUrl" : "uri" }], "code" : "http://hl7.org/fhirpath/System.String" }], "fixedUri" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsGene", "isModifier" : false, "isSummary" : false, "mapping" : [{ "identity" : "rim", "map" : "N/A" }] }, { "id" : "Extension.value[x]", "path" : "Extension.value[x]", "short" : "Value of extension", "definition" : "Value of extension - must be one of a constrained set of the data types (see [Extensibility](extensibility.html) for a list).", "min" : 1, "max" : "1", "base" : { "path" : "Extension.value[x]", "min" : 0, "max" : "1" }, "type" : [{ "code" : "CodeableConcept" }], "constraint" : [{ "key" : "ele-1", "severity" : "error", "human" : "All FHIR elements must have a @value or children", "expression" : "hasValue() or (children().count() > id.count())", "xpath" : "@value|f:*|h:div", "source" : "http://hl7.org/fhir/StructureDefinition/Element" }], "isModifier" : false, "isSummary" : false, "binding" : { "extension" : [{ "url" : "http://hl7.org/fhir/build/StructureDefinition/definition", "valueString" : "International curated set of gene identifiers." }, { "url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName", "valueString" : "HGNC-geneIdentifiers" }], "strength" : "preferred", "description" : "Gene Identifiers Reference", "valueSet" : "http://hl7.org/fhir/ValueSet/genenames" }, "mapping" : [{ "identity" : "rim", "map" : "N/A" }] }] }, "differential" : { "element" : [{ "id" : "Extension", "path" : "Extension", "short" : "HGNC gene symbol", "definition" : "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" : "Other systems or genes not defined in HGNC (e.g., BCR-ABL fusion gene) can be added by using a local extension.", "min" : 0, "max" : "1" }, { "id" : "Extension.extension", "path" : "Extension.extension", "max" : "0" }, { "id" : "Extension.url", "path" : "Extension.url", "fixedUri" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsGene" }, { "id" : "Extension.value[x]", "path" : "Extension.value[x]", "min" : 1, "type" : [{ "code" : "CodeableConcept" }], "binding" : { "extension" : [{ "url" : "http://hl7.org/fhir/build/StructureDefinition/definition", "valueString" : "International curated set of gene identifiers." }, { "url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName", "valueString" : "HGNC-geneIdentifiers" }], "strength" : "preferred", "description" : "Gene Identifiers Reference", "valueSet" : "http://hl7.org/fhir/ValueSet/genenames" } }] } }
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.