{
"description": "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)).",
"_filename": "StructureDefinition-observation-geneticsGene.json",
"package_name": "hl7.fhir.uv.extensions.r3",
"date": "2016-03-14",
"derivation": "constraint",
"publisher": "HL7 International / Orders and Observations",
"fhirVersion": "3.0.2",
"jurisdiction": [ {
"coding": [ {
"code": "001",
"system": "http://unstats.un.org/unsd/methods/m49/m49.htm"
} ]
} ],
"name": "Gene",
"mapping": [ {
"uri": "http://hl7.org/v3",
"name": "RIM Mapping",
"identity": "rim"
} ],
"abstract": false,
"type": "Extension",
"experimental": null,
"resourceType": "StructureDefinition",
"title": "Gene",
"package_version": "5.3.0-ballot",
"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/structuredefinition-standards-status",
"valueCode": "deprecated",
"_valueCode": {
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status-reason",
"valueMarkdown": "This extension has been replaced by the profiles and extensions defined in the [Genomics Reporting Guide](https://hl7.org/fhir/uv/genomics-reporting/)"
} ]
}
}, {
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-type-characteristics",
"valueCode": "can-bind"
} ],
"snapshot": {
"element": [ {
"constraint": [ {
"key": "ele-1",
"human": "All FHIR elements must have a @value or children",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element",
"severity": "error",
"expression": "hasValue() | (children().count() > id.count())"
}, {
"key": "ext-1",
"human": "Must have either extensions or value[x], not both",
"xpath": "exists(f:extension)!=exists(f:*[starts-with(local-name(.), 'value')])",
"source": "http://hl7.org/fhir/StructureDefinition/Extension",
"severity": "error",
"expression": "extension.exists() != value.exists()"
} ],
"path": "Extension",
"min": 0,
"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)).",
"short": "HGNC gene symbol",
"max": "1",
"id": "Extension",
"condition": [ "ele-1" ],
"comment": "Other systems or genes not defined in HGNC (e.g., BCR-ABL fusion gene) can be added by using a local extension.",
"base": {
"max": "*",
"min": 0,
"path": "Extension"
}
}, {
"path": "Extension.id",
"min": 0,
"definition": "unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"short": "xml:id (or equivalent in JSON)",
"mapping": [ {
"map": "n/a",
"identity": "rim"
} ],
"type": [ {
"code": "string"
} ],
"representation": [ "xmlAttr" ],
"max": "1",
"id": "Extension.id",
"base": {
"max": "1",
"min": 0,
"path": "Element.id"
}
}, {
"path": "Extension.extension",
"min": 0,
"definition": "An Extension",
"short": "Extension",
"slicing": {
"rules": "open",
"description": "Extensions are always sliced by (at least) url",
"discriminator": [ {
"path": "url",
"type": "value"
} ]
},
"type": [ {
"code": "Extension"
} ],
"max": "0",
"id": "Extension.extension",
"base": {
"max": "*",
"min": 0,
"path": "Element.extension"
}
}, {
"path": "Extension.url",
"min": 1,
"definition": "Source of the definition for the extension code - a logical name or a URL.",
"short": "identifies the meaning of the extension",
"fixedUri": "http://hl7.org/fhir/StructureDefinition/observation-geneticsGene",
"mapping": [ {
"map": "N/A",
"identity": "rim"
} ],
"type": [ {
"code": "uri"
} ],
"representation": [ "xmlAttr" ],
"max": "1",
"id": "Extension.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.",
"base": {
"max": "1",
"min": 1,
"path": "Extension.url"
}
}, {
"path": "Extension.value[x]",
"min": 1,
"definition": "Value of extension - may be a resource or one of a constrained set of the data types (see Extensibility in the spec for list).",
"short": "Value of extension",
"mapping": [ {
"map": "N/A",
"identity": "rim"
} ],
"type": [ {
"code": "CodeableConcept"
} ],
"binding": {
"strength": "example",
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString": "HGNC-geneIdentifiers"
} ],
"description": "International curated set of gene identifiers."
},
"max": "1",
"id": "Extension.value[x]",
"base": {
"max": "1",
"min": 0,
"path": "Extension.value[x]"
}
} ]
},
"status": "retired",
"id": "be25e0f1-c529-44b2-b09d-c1c317e47d31",
"kind": "complex-type",
"url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsGene",
"context": [ "Observation" ],
"version": "5.3.0-ballot",
"differential": {
"element": [ {
"id": "Extension",
"max": "1",
"min": 0,
"path": "Extension",
"short": "HGNC gene symbol",
"comment": "Other systems or genes not defined in HGNC (e.g., BCR-ABL fusion gene) can be added by using a local extension.",
"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))."
}, {
"id": "Extension.extension",
"max": "0",
"path": "Extension.extension"
}, {
"id": "Extension.url",
"path": "Extension.url",
"fixedUri": "http://hl7.org/fhir/StructureDefinition/observation-geneticsGene"
}, {
"id": "Extension.value[x]",
"min": 1,
"path": "Extension.value[x]",
"type": [ {
"code": "CodeableConcept"
} ],
"binding": {
"strength": "example",
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString": "HGNC-geneIdentifiers"
} ],
"description": "International curated set of gene identifiers."
}
} ]
},
"contact": [ {
"telecom": [ {
"value": "http://www.hl7.org/Special/committees/orders",
"system": "url"
} ]
} ],
"contextType": "resource",
"baseDefinition": "http://hl7.org/fhir/StructureDefinition/Extension"
}