This page is part of the FHIR Specification (v1.0.0: DSTU 2 Ballot 3). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions
Gene
{ "resourceType": "StructureDefinition", "id": "geneticsGene", "url": "http://hl7.org/fhir/StructureDefinition/geneticsGene", "name": "Gene", "status": "draft", "publisher": "Health Level Seven International (Clinical Genomics)", "contact": [ { "telecom": [ { "system": "other", "value": "http://www.hl7.org/Special/committees/clingenomics" } ] } ], "date": "2015-03-18", "description": "Gene region in which the sequence is found. Currently values from HGNC are supported. Other systems or genes not defined in HGNC (e.g. BCR-ABL fusion gene) can be added by using local extension.", "kind": "datatype", "constrainedType": "Extension", "abstract": false, "contextType": "resource", "context": [ "Observation" ], "base": "http://hl7.org/fhir/StructureDefinition/Extension", "snapshot": { "element": [ { "path": "Extension", "short": "Gene", "definition": "Gene region in which the sequence is found. Currently values from HGNC are supported. Other systems or genes not defined in HGNC (e.g. BCR-ABL fusion gene) can be added by using local extension.", "min": 0, "max": "1", "base": { "path": "Extension", "min": 0, "max": "*" }, "type": [ { "code": "Extension" } ] }, { "path": "Extension.id", "representation": [ "xmlAttr" ], "short": "xml:id (or equivalent in JSON)", "definition": "unique id for the element within a resource (for internal references).", "min": 0, "max": "1", "base": { "path": "Extension.id", "min": 0, "max": "1" }, "type": [ { "code": "id" } ], "mapping": [ { "identity": "rim", "map": "n/a" } ] }, { "path": "Extension.extension", "name": "extension", "short": "Extension", "definition": "An Extension", "min": 0, "max": "0", "base": { "path": "Extension.extension", "min": 0, "max": "*" }, "type": [ { "code": "Extension" } ] }, { "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.", "comments": "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 should be version specific. This will ideally be the URI for the Resource Profile defining the extension, with the code for the extension after a #.", "min": 1, "max": "1", "base": { "path": "Extension.url", "min": 1, "max": "1" }, "type": [ { "code": "uri" } ], "fixedUri": "http://hl7.org/fhir/StructureDefinition/geneticsGene", "mapping": [ { "identity": "rim", "map": "N/A" } ] }, { "path": "Extension.valueCodeableConcept", "short": "Value of extension", "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).", "min": 1, "max": "1", "base": { "path": "Extension.value[x]", "min": 0, "max": "1" }, "type": [ { "code": "CodeableConcept" } ], "mapping": [ { "identity": "rim", "map": "N/A" } ] } ] }, "differential": { "element": [ { "path": "Extension", "short": "Gene", "definition": "Gene region in which the sequence is found. Currently values from HGNC are supported. Other systems or genes not defined in HGNC (e.g. BCR-ABL fusion gene) can be added by using local extension.", "min": 0, "max": "1", "type": [ { "code": "Extension" } ] }, { "path": "Extension.extension", "name": "extension", "max": "0" }, { "path": "Extension.url", "type": [ { "code": "uri" } ], "fixedUri": "http://hl7.org/fhir/StructureDefinition/geneticsGene" }, { "path": "Extension.value[x]", "min": 1, "type": [ { "code": "CodeableConcept" } ] } ] } }
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.