Release 4B Snapshot #1
DiagnosticsThis page is part of the FHIR Specification (v4.3.0-snapshot1: Release 4B Snapshot #1). 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-snapshot1",
"name" : "Gene",
"status" : "draft",
"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-snapshot1",
"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" : "string"
}],
"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.
FHIR ®© HL7.org 2011+. FHIR R4B Ballot #1 hl7.fhir.core#4.3.0-snapshot1 generated on Mon, Dec 20, 2021 14:12+1100.
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