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Profile for Adds additional information to a family history supporting both the capture of mother/father relationships as well as additional observations necessary to enable genetics-based risk analysis for patients
{ "resourceType": "Profile", "text": { "status": "generated", "div": "<div><pre> <span style=\"float: right\"><a title=\"Documentation for this format\" href=\"formats.html\"><img alt=\"doco\" src=\"help.png\"/></a></span>\r\n<span style=\"color: Gray\"><!-- <span style=\"color: Darkviolet\">Resources</span> --></span>\r\n<span style=\"color: Gray\"><!--<a name=\"GeneticPedigreeFamilyHistory\"> </a><span style=\"color: Darkviolet\">GeneticPedigreeFamilyHistory</span> --></span>\r\n<<span title=\"Information about patient's relatives, relevant for patient.\"><b>FamilyHistory</b></span> xmlns="http://hl7.org/fhir">\r\n <!-- from Element: <a href=\"extensibility.html\">extension</a> -->\r\n <i class=\"inherited\"><<span title=\"May be used to represent additional information that is not part of the basic definition of the resource. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.\"><b>extension</b></span>><span style=\"color: Gray\"><!--</span> <span style=\"color: brown\"><b>0..*</b></span> <span style=\"color: darkgreen\"><a href=\"http://hl7.org/fhir/extensibility.html#Extension\">Extension</a></span> <span style=\"color: navy\">Additional Content defined by implementations</span><span style=\"color: Gray\"> --></span></extension></i>\r\n <i class=\"inherited\"><<span title=\"May be used to represent additional information that is not part of the basic definition of the resource, and that modifies the understanding of the element that contains it. Usually modifier elements provide negation or qualification. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\"><b>modifierExtension</b></span>><span style=\"color: Gray\"><!--</span> <span style=\"color: brown\"><b>0..*</b></span> <span style=\"color: darkgreen\"><a href=\"http://hl7.org/fhir/extensibility.html#Extension\">Extension</a></span> <span style=\"color: navy\">Extensions that cannot be ignored</span><span style=\"color: Gray\"> --></span></modifierExtension></i>\r\n <i class=\"inherited\"><<span title=\"A human-readable narrative that contains a summary of the resource, and may be used to represent the content of the resource to a human. The narrative need not encode all the structured data, but is required to contain sufficient detail to make it "clinically safe" for a human to just read the narrative. Resource definitions may define what content should be represented in the narrative to ensure clinical safety.\"><b>text</b></span>><span style=\"color: Gray\"><!--</span> <span style=\"color: brown\"><b>0..1</b></span> <span style=\"color: darkgreen\"><a href=\"http://hl7.org/fhir/narrative.html#Narrative\">Narrative</a></span> <span style=\"color: navy\">Text summary of the resource, for human interpretation</span><span style=\"color: Gray\"> --></span></text></i>\r\n <i class=\"inherited\"><<span title=\"These resources do not have an independent existence apart from the resource that contains them - they cannot be identified independently, and nor can they have their own independent transaction scope.\"><b>contained</b></span>><span style=\"color: Gray\"><!--</span> <span style=\"color: brown\"><b>0..*</b></span> <span style=\"color: darkgreen\"><a href=\"http://hl7.org/fhir/references.html#Resource\">Resource</a></span> <span style=\"color: navy\">Contained, inline Resources</span><span style=\"color: Gray\"> --></span></contained></i>\r\n <i class=\"inherited\"><<span title=\"This records identifiers associated with this family history record that are defined by business processes and/ or used to refer to it when a direct URL reference to the resource itself is not appropriate (e.g. in CDA documents, or in written / printed documentation).\"><b>identifier</b></span>><span style=\"color: Gray\"><!--</span> <span style=\"color: brown\"><b>0..*</b></span> <span style=\"color: darkgreen\"><a href=\"http://hl7.org/fhir/datatypes.html#Identifier\">Identifier</a></span> <span style=\"color: navy\">External Id(s) for this record</span><span style=\"color: Gray\"> --></span></identifier></i>\r\n <<span title=\"Patient history is about.\"><b>subject</b></span>><span style=\"color: Gray\"><!--</span> <span style=\"color: brown\"><b>1..1</b></span> <span style=\"color: darkgreen\"><a href=\"http://hl7.org/fhir/references.html#Resource\">Resource</a>(<a href=\"http://hl7.org/fhir/patient.html#Patient\">Patient</a>)</span> <span style=\"color: navy\">Patient history is about</span><span style=\"color: Gray\"> --></span></subject>\r\n <<span title=\"Additional details not covered elsewhere.\"><b>note</b></span> value="[<span style=\"color: darkgreen\"><a href=\"http://hl7.org/fhir/datatypes.html#string\">string</a></span>]"/><span style=\"color: Gray\"><!--</span> <span style=\"color: brown\"><b>0..1</b></span> <span style=\"color: navy\">Additional details not covered elsewhere</span><span style=\"color: Gray\"> --></span>\r\n <<span title=\"Relative described by history (this element must be supported)\" style=\"text-decoration: underline\"><b>relation</b></span>> <span style=\"color: Gray\"><!-- <span style=\"color: brown\"><b>1..*</b></span> Relative described by history --></span>\r\n <span style=\"color: Gray\"><!--</span><span style=\"color: blue\">"Parent":</span> <span style=\"color: Gray\"> --></span>\r\n <<span title=\"Additional Content defined by implementations (this element must be supported)\" style=\"text-decoration: underline\"><b>extension</b></span>> <span style=\"color: brown\"><b>0..*</b></span> <span style=\"color: darkgreen\"><a href=\"#relationParent\"><span style=\"color: DarkViolet\">@relationParent</span></a></span> <span style=\"color: Gray\"><!-- <span style=\"color: brown\"><b>0..*</b></span> Additional Content defined by implementations --></span>\r\n <span style=\"color: Gray\"><!--</span><span style=\"color: blue\">"ParentType":</span> <span style=\"color: Gray\"> --></span>\r\n <<span title=\"Additional Content defined by implementations (this element must be supported)\" style=\"text-decoration: underline\"><b>extension</b></span>><span style=\"color: Gray\"><!--</span> <span style=\"color: brown\"><b>1..1</b></span> <span style=\"color: darkgreen\"><a href=\"#relationParent.type\"><span style=\"color: DarkViolet\">@relationParent.type</span></a></span> <span style=\"color: navy\">Additional Content defined by implementations</span><span style=\"color: Gray\"> --></span></extension>\r\n <span style=\"color: Gray\"><!--</span><span style=\"color: blue\">"ParentIdentifier":</span> <span style=\"color: Gray\"> --></span>\r\n <<span title=\"Additional Content defined by implementations (this element must be supported)\" style=\"text-decoration: underline\"><b>extension</b></span>><span style=\"color: Gray\"><!--</span> <span style=\"color: brown\"><b>1..1</b></span> <span style=\"color: darkgreen\"><a href=\"#relationParent.identifier\"><span style=\"color: DarkViolet\">@relationParent.identifier</span></a></span> <span style=\"color: navy\">Additional Content defined by implementations</span><span style=\"color: Gray\"> --></span></extension>\r\n </extension>\r\n <span style=\"color: Gray\"><!--</span><span style=\"color: blue\">"Observation":</span> <span style=\"color: Gray\"> --></span>\r\n <<span title=\"Additional Content defined by implementations.\"><b>extension</b></span>><span style=\"color: Gray\"><!--</span> <span style=\"color: brown\"><b>0..*</b></span> <span style=\"color: darkgreen\"><a href=\"#relationObservation\"><span style=\"color: DarkViolet\">@relationObservation</span></a></span> <span style=\"color: navy\">Additional Content defined by implementations</span><span style=\"color: Gray\"> --></span></extension>\r\n <i class=\"inherited\"><<span title=\"May be used to represent additional information that is not part of the basic definition of the resource, and that modifies the understanding of the element that contains it. Usually modifier elements provide negation or qualification. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\"><b>modifierExtension</b></span>><span style=\"color: Gray\"><!--</span> <span style=\"color: brown\"><b>0..*</b></span> <span style=\"color: darkgreen\"><a href=\"http://hl7.org/fhir/extensibility.html#Extension\">Extension</a></span> <span style=\"color: navy\">Extensions that cannot be ignored</span><span style=\"color: Gray\"> --></span></modifierExtension></i>\r\n <<span title=\"The family member described.\"><b>name</b></span> value="[<span style=\"color: darkgreen\"><a href=\"http://hl7.org/fhir/datatypes.html#string\">string</a></span>]"/><span style=\"color: Gray\"><!--</span> <span style=\"color: brown\"><b>0..1</b></span> <span style=\"color: navy\">The family member described</span><span style=\"color: Gray\"> --></span>\r\n <<span title=\"Relationship to the subject (this element must be supported)\" style=\"text-decoration: underline\"><b>relationship</b></span>><span style=\"color: Gray\"><!--</span> <span style=\"color: brown\"><b>1..1</b></span> <span style=\"color: darkgreen\"><a href=\"http://hl7.org/fhir/datatypes.html#CodeableConcept\">CodeableConcept</a></span> <a style=\"color: navy\" href=\"v3/vs/FamilyMember/index.html\">Relationship to the subject</a><span style=\"color: Gray\"> --></span></relationship>\r\n <<span title=\"(approximate) date of birth (this element must be supported)\" style=\"text-decoration: underline\"><b>born[x]</b></span>><span style=\"color: Gray\"><!--</span> <span style=\"color: brown\"><b>0..1</b></span> <span style=\"color: darkgreen\"><a href=\"http://hl7.org/fhir/datatypes.html#Period\">Period</a>|<a href=\"http://hl7.org/fhir/datatypes.html#date\">date</a>|<a href=\"http://hl7.org/fhir/datatypes.html#string\">string</a></span> <span style=\"color: navy\">(approximate) date of birth</span><span style=\"color: Gray\"> --></span></born[x]>\r\n <<span title=\"Dead? How old/when? (this element must be supported)\" style=\"text-decoration: underline\"><b>deceased[x]</b></span>><span style=\"color: Gray\"><!--</span> <span style=\"color: brown\"><b>0..1</b></span> <span style=\"color: darkgreen\"><a href=\"http://hl7.org/fhir/datatypes.html#boolean\">boolean</a>|<a href=\"http://hl7.org/fhir/datatypes.html#Age\">Age</a>|<a href=\"http://hl7.org/fhir/datatypes.html#Range\">Range</a>|<a href=\"http://hl7.org/fhir/datatypes.html#string\">string</a></span> <span style=\"color: navy\">Dead? How old/when?</span><span style=\"color: Gray\"> --></span></deceased[x]>\r\n <<span title=\"General note about related person.\"><b>note</b></span> value="[<span style=\"color: darkgreen\"><a href=\"http://hl7.org/fhir/datatypes.html#string\">string</a></span>]"/><span style=\"color: Gray\"><!--</span> <span style=\"color: brown\"><b>0..1</b></span> <span style=\"color: navy\">General note about related person</span><span style=\"color: Gray\"> --></span>\r\n <<span title=\"Condition that the related person had (this element must be supported)\" style=\"text-decoration: underline\"><b>condition</b></span>> <span style=\"color: Gray\"><!-- <span style=\"color: brown\"><b>0..*</b></span> Condition that the related person had --></span>\r\n <i class=\"inherited\"><<span title=\"May be used to represent additional information that is not part of the basic definition of the resource. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.\"><b>extension</b></span>><span style=\"color: Gray\"><!--</span> <span style=\"color: brown\"><b>0..*</b></span> <span style=\"color: darkgreen\"><a href=\"http://hl7.org/fhir/extensibility.html#Extension\">Extension</a></span> <span style=\"color: navy\">Additional Content defined by implementations</span><span style=\"color: Gray\"> --></span></extension></i>\r\n <i class=\"inherited\"><<span title=\"May be used to represent additional information that is not part of the basic definition of the resource, and that modifies the understanding of the element that contains it. Usually modifier elements provide negation or qualification. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\"><b>modifierExtension</b></span>><span style=\"color: Gray\"><!--</span> <span style=\"color: brown\"><b>0..*</b></span> <span style=\"color: darkgreen\"><a href=\"http://hl7.org/fhir/extensibility.html#Extension\">Extension</a></span> <span style=\"color: navy\">Extensions that cannot be ignored</span><span style=\"color: Gray\"> --></span></modifierExtension></i>\r\n <<span title=\"Condition suffered by relation (this element must be supported)\" style=\"text-decoration: underline\"><b>type</b></span>><span style=\"color: Gray\"><!--</span> <span style=\"color: brown\"><b>1..1</b></span> <span style=\"color: darkgreen\"><a href=\"http://hl7.org/fhir/datatypes.html#CodeableConcept\">CodeableConcept</a></span> <span style=\"color: navy\">Condition suffered by relation</span><span style=\"color: Gray\"> --></span></type>\r\n <<span title=\"deceased | permanent disability | etc (this element must be supported)\" style=\"text-decoration: underline\"><b>outcome</b></span>><span style=\"color: Gray\"><!--</span> <span style=\"color: brown\"><b>0..1</b></span> <span style=\"color: darkgreen\"><a href=\"http://hl7.org/fhir/datatypes.html#CodeableConcept\">CodeableConcept</a></span> <span style=\"color: navy\">deceased | permanent disability | etc.</span><span style=\"color: Gray\"> --></span></outcome>\r\n <<span title=\"When condition first manifested (this element must be supported)\" style=\"text-decoration: underline\"><b>onset[x]</b></span>><span style=\"color: Gray\"><!--</span> <span style=\"color: brown\"><b>0..1</b></span> <span style=\"color: darkgreen\"><a href=\"http://hl7.org/fhir/datatypes.html#Age\">Age</a>|<a href=\"http://hl7.org/fhir/datatypes.html#Range\">Range</a>|<a href=\"http://hl7.org/fhir/datatypes.html#string\">string</a></span> <span style=\"color: navy\">When condition first manifested</span><span style=\"color: Gray\"> --></span></onset[x]>\r\n <<span title=\"Extra information about condition.\"><b>note</b></span> value="[<span style=\"color: darkgreen\"><a href=\"http://hl7.org/fhir/datatypes.html#string\">string</a></span>]"/><span style=\"color: Gray\"><!--</span> <span style=\"color: brown\"><b>0..1</b></span> <span style=\"color: navy\">Extra information about condition</span><span style=\"color: Gray\"> --></span>\r\n </condition>\r\n </relation>\r\n</FamilyHistory>\r\n\r\n<span style=\" color: Gray\"><!-- <span style=\"color: Darkviolet\">Extensions</span> --></span>\r\n<<span title=\"Identifies a parent of the relative.\"><b>extension</b></span>><a name=\"relationParent\"> </a><!-- <span style=\"color: brown\"><b>0..*</b></span> <span style=\"color: navy\">Context: Resource = FamilyHistory.relation</span> -->\r\n <<b>url</b> value="<span style=\"color: maroon\">http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent</span>"/>\r\n <span title=\"Identifies a parent of the relative.\"><span style=\" color: Gray\"><!-- </span><span style=\"color: navy\">Extensions: #relationParent.type, #relationParent.identifier</span> <span style=\" color: Gray\">--> </span></span>\r\n</extension>\r\n\r\n<<span title=\"Distinguishes between different types of parental relationships with varying granularity to support capturing the relationship "to the degree known".\"><b>extension</b></span>><a name=\"relationParent.type\"> </a><!-- <span style=\"color: brown\"><b>1..1</b></span> <span style=\"color: navy\">Context: Extension = http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent</span> -->\r\n <<b>url</b> value="<span style=\"color: maroon\">http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent.type</span>"/>\r\n <<span title=\"Distinguishes between different types of parental relationships with varying granularity to support capturing the relationship "to the degree known".\"><b>valueCodeableConcept</b></span>><span style=\" color: Gray\"><!-- </span> <span style=\"color: brown;\"><b>0..1</b></span> <span style=\"color: darkgreen\"><a href=\"http://hl7.org/fhir/datatypes.html#CodeableConcept\">CodeableConcept</a></span> <span style=\"color: navy\">mother | father | adoptive mother | etc.</span> <span style=\" color: Gray\">--> </span></valueCodeableConcept>\r\n</extension>\r\n\r\n<<span title=\"Points to the 'id' attribute on the relation who is the parent of this relation.\"><b>extension</b></span>><a name=\"relationParent.identifier\"> </a><!-- <span style=\"color: brown\"><b>1..1</b></span> <span style=\"color: navy\">Context: Extension = http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent</span> -->\r\n <<b>url</b> value="<span style=\"color: maroon\">http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent.identifier</span>"/>\r\n <<span title=\"Points to the 'id' attribute on the relation who is the parent of this relation.\"><b>valueUri</b></span> value="[<span style=\"color: darkgreen\"><a href=\"http://hl7.org/fhir/datatypes.html#uri\">uri</a></span>]"/><span style=\" color: Gray\"><!-- </span><span style=\"color: navy\">Link to parent relative(s)</span><span style=\" color: Gray\"> --></span>\r\n</extension>\r\n\r\n<<span title=\"Allows capturing risk-relevant observations about the relative that aren't themselves a specific health condition. E.g. Certain ethnic ancestries that are disease-relevant, presence of particular genetic markers, etc.\"><b>extension</b></span>><a name=\"relationObservation\"> </a><!-- <span style=\"color: brown\"><b>0..*</b></span> <span style=\"color: navy\">Context: Resource = FamilyHistory.relation</span> -->\r\n <<b>url</b> value="<span style=\"color: maroon\">http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationObservation</span>"/>\r\n <<span title=\"Allows capturing risk-relevant observations about the relative that aren't themselves a specific health condition. E.g. Certain ethnic ancestries that are disease-relevant, presence of particular genetic markers, etc.\"><b>valueResourceReference</b></span>><span style=\" color: Gray\"><!-- </span> <span style=\"color: brown;\"><b>0..1</b></span> <span style=\"color: darkgreen\"><a href=\"http://hl7.org/fhir/references.html#Resource\">Resource</a>(<a href=\"http://hl7.org/fhir/observation.html#Observation\">Observation</a>)</span> <span style=\"color: navy\">Genetic markers, ethnicity, etc.</span> <span style=\" color: Gray\">--> </span></valueResourceReference>\r\n</extension>\r\n\r\n</pre></div>" }, "name": "Profile to support capturing pedigree within family history for genetics analysis", "publisher": "HL7 International - Clinical Genomics WG", "telecom": [ { "system": "url", "value": "http://www.hl7.org/Special/committees/clingenomics" } ], "description": "Adds additional information to a family history supporting both the capture of mother/father relationships as well as additional observations necessary to enable genetics-based risk analysis for patients", "status": "draft", "date": "2013-10-02", "mapping": [ { "identity": "rim", "uri": "http://hl7.org/v3", "name": "RIM" } ], "structure": [ { "type": "FamilyHistory", "name": "GeneticPedigreeFamilyHistory", "publish": true, "element": [ { "path": "FamilyHistory", "name": "GeneticPedigreeFamilyHistory", "definition": { "short": "Information about patient's relatives, relevant for patient", "formal": "Information about patient's relatives, relevant for patient.", "min": 1, "max": "1", "type": [ { "code": "Resource" } ], "isModifier": false } }, { "path": "FamilyHistory.extension", "name": "base extension", "slicing": { "discriminator": "url", "ordered": false, "rules": "open" } }, { "path": "FamilyHistory.extension", "definition": { "short": "Additional Content defined by implementations", "formal": "May be used to represent additional information that is not part of the basic definition of the resource. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "min": 0, "max": "*", "type": [ { "code": "Extension" } ], "isModifier": false } }, { "path": "FamilyHistory.extension.extension", "definition": { "short": "Additional Content defined by implementations", "formal": "May be used to represent additional information that is not part of the basic definition of the resource. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "synonym": [ "extensions", "user content" ], "min": 0, "max": "*", "type": [ { "code": "Extension" } ], "isModifier": false } }, { "path": "FamilyHistory.extension.modifierExtension", "definition": { "short": "Extensions that cannot be ignored", "formal": "May be used to represent additional information that is not part of the basic definition of the resource, and that modifies the understanding of the element that contains it. Usually modifier elements provide negation or qualification. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "synonym": [ "extensions", "user content" ], "min": 0, "max": "*", "type": [ { "code": "Extension" } ], "isModifier": false } }, { "path": "FamilyHistory.modifierExtension", "name": "base modifierExtension", "slicing": { "discriminator": "url", "ordered": false, "rules": "open" } }, { "path": "FamilyHistory.modifierExtension", "definition": { "short": "Extensions that cannot be ignored", "formal": "May be used to represent additional information that is not part of the basic definition of the resource, and that modifies the understanding of the element that contains it. Usually modifier elements provide negation or qualification. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "min": 0, "max": "*", "type": [ { "code": "Extension" } ], "isModifier": false } }, { "path": "FamilyHistory.modifierExtension.extension", "definition": { "short": "Additional Content defined by implementations", "formal": "May be used to represent additional information that is not part of the basic definition of the resource. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "synonym": [ "extensions", "user content" ], "min": 0, "max": "*", "type": [ { "code": "Extension" } ], "isModifier": false } }, { "path": "FamilyHistory.modifierExtension.modifierExtension", "definition": { "short": "Extensions that cannot be ignored", "formal": "May be used to represent additional information that is not part of the basic definition of the resource, and that modifies the understanding of the element that contains it. Usually modifier elements provide negation or qualification. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "synonym": [ "extensions", "user content" ], "min": 0, "max": "*", "type": [ { "code": "Extension" } ], "isModifier": false } }, { "path": "FamilyHistory.text", "definition": { "short": "Text summary of the resource, for human interpretation", "formal": "A human-readable narrative that contains a summary of the resource, and may be used to represent the content of the resource to a human. The narrative need not encode all the structured data, but is required to contain sufficient detail to make it \"clinically safe\" for a human to just read the narrative. Resource definitions may define what content should be represented in the narrative to ensure clinical safety.", "comments": "Contained resources do not have narrative. Resources that are not contained SHOULD have a narrative.", "synonym": [ "narrative", "html", "xhtml", "display" ], "min": 0, "max": "1", "type": [ { "code": "Narrative" } ], "isModifier": false } }, { "path": "FamilyHistory.contained", "definition": { "short": "Contained, inline Resources", "formal": "These resources do not have an independent existence apart from the resource that contains them - they cannot be identified independently, and nor can they have their own independent transaction scope.", "comments": "This should never be done when the content can be identified properly, as once identification is lost, it is extremely difficult (and context dependent) to restore it again.", "synonym": [ "inline resources", "anonymous resources", "contained resources" ], "min": 0, "max": "*", "type": [ { "code": "Resource" } ], "isModifier": false } }, { "path": "FamilyHistory.text", "definition": { "short": "Text summary of the resource, for human interpretation", "formal": "A human-readable narrative that contains a summary of the resource, and may be used to represent the content of the resource to a human. The narrative need not encode all the structured data, but is required to contain sufficient detail to make it \"clinically safe\" for a human to just read the narrative. Resource definitions may define what content should be represented in the narrative to ensure clinical safety.", "comments": "Contained resources do not have narrative. Resources that are not contained SHOULD have a narrative.", "min": 0, "max": "1", "type": [ { "code": "Narrative" } ], "isModifier": false } }, { "path": "FamilyHistory.contained", "definition": { "short": "Contained, inline Resources", "formal": "These resources do not have an independent existence apart from the resource that contains them - they cannot be identified independently, and nor can they have their own independent transaction scope.", "comments": "This should never be done when the content can be identified properly, as once identification is lost, it is extremely difficult (and context dependent) to restore it again.", "min": 0, "max": "*", "type": [ { "code": "Resource" } ], "isModifier": false } }, { "path": "FamilyHistory.identifier", "definition": { "short": "External Id(s) for this record", "formal": "This records identifiers associated with this family history record that are defined by business processes and/ or used to refer to it when a direct URL reference to the resource itself is not appropriate (e.g. in CDA documents, or in written / printed documentation).", "min": 0, "max": "*", "type": [ { "code": "Identifier" } ], "isModifier": false } }, { "path": "FamilyHistory.subject", "definition": { "short": "Patient history is about", "formal": "Patient history is about.", "min": 1, "max": "1", "type": [ { "code": "ResourceReference", "profile": "http://hl7.org/fhir/profiles/Patient" } ], "isModifier": false } }, { "path": "FamilyHistory.note", "definition": { "short": "Additional details not covered elsewhere", "formal": "Additional details not covered elsewhere.", "min": 0, "max": "1", "type": [ { "code": "string" } ], "isModifier": false } }, { "path": "FamilyHistory.relation", "definition": { "short": "Relative described by history", "formal": "Relative described by history.", "min": 1, "max": "*", "isModifier": false } }, { "path": "FamilyHistory.relation.extension", "name": "base extension", "slicing": { "discriminator": "url", "ordered": false, "rules": "open" } }, { "path": "FamilyHistory.relation.extension", "name": "Parent", "definition": { "short": "Additional Content defined by implementations", "formal": "Additional Content defined by implementations.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "min": 0, "max": "*", "type": [ { "code": "Extension", "profile": "#relationParent" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.extension.extension", "name": "base extension", "slicing": { "discriminator": "url", "ordered": false, "rules": "open" } }, { "path": "FamilyHistory.relation.extension.extension", "name": "ParentType", "definition": { "short": "Additional Content defined by implementations", "formal": "Additional Content defined by implementations.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "min": 1, "max": "1", "type": [ { "code": "Extension", "profile": "#relationParent.type" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.extension.extension.extension", "definition": { "short": "Additional Content defined by implementations", "formal": "May be used to represent additional information that is not part of the basic definition of the resource. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "synonym": [ "extensions", "user content" ], "min": 0, "max": "*", "type": [ { "code": "Extension" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.extension.extension.modifierExtension", "definition": { "short": "Extensions that cannot be ignored", "formal": "May be used to represent additional information that is not part of the basic definition of the resource, and that modifies the understanding of the element that contains it. Usually modifier elements provide negation or qualification. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "synonym": [ "extensions", "user content" ], "min": 0, "max": "*", "type": [ { "code": "Extension" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.extension.extension", "name": "ParentIdentifier", "definition": { "short": "Additional Content defined by implementations", "formal": "Additional Content defined by implementations.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "min": 1, "max": "1", "type": [ { "code": "Extension", "profile": "#relationParent.identifier" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.extension.extension.extension", "definition": { "short": "Additional Content defined by implementations", "formal": "May be used to represent additional information that is not part of the basic definition of the resource. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "synonym": [ "extensions", "user content" ], "min": 0, "max": "*", "type": [ { "code": "Extension" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.extension.extension.modifierExtension", "definition": { "short": "Extensions that cannot be ignored", "formal": "May be used to represent additional information that is not part of the basic definition of the resource, and that modifies the understanding of the element that contains it. Usually modifier elements provide negation or qualification. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "synonym": [ "extensions", "user content" ], "min": 0, "max": "*", "type": [ { "code": "Extension" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.extension.modifierExtension", "definition": { "short": "Extensions that cannot be ignored", "formal": "May be used to represent additional information that is not part of the basic definition of the resource, and that modifies the understanding of the element that contains it. Usually modifier elements provide negation or qualification. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "synonym": [ "extensions", "user content" ], "min": 0, "max": "*", "type": [ { "code": "Extension" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.extension", "name": "Observation", "definition": { "short": "Additional Content defined by implementations", "formal": "Additional Content defined by implementations.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "min": 0, "max": "*", "type": [ { "code": "Extension", "profile": "#relationObservation" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.extension.extension", "definition": { "short": "Additional Content defined by implementations", "formal": "May be used to represent additional information that is not part of the basic definition of the resource. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "synonym": [ "extensions", "user content" ], "min": 0, "max": "*", "type": [ { "code": "Extension" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.extension.modifierExtension", "definition": { "short": "Extensions that cannot be ignored", "formal": "May be used to represent additional information that is not part of the basic definition of the resource, and that modifies the understanding of the element that contains it. Usually modifier elements provide negation or qualification. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "synonym": [ "extensions", "user content" ], "min": 0, "max": "*", "type": [ { "code": "Extension" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.modifierExtension", "name": "base modifierExtension", "slicing": { "discriminator": "url", "ordered": false, "rules": "open" } }, { "path": "FamilyHistory.relation.modifierExtension", "definition": { "short": "Extensions that cannot be ignored", "formal": "May be used to represent additional information that is not part of the basic definition of the resource, and that modifies the understanding of the element that contains it. Usually modifier elements provide negation or qualification. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "min": 0, "max": "*", "type": [ { "code": "Extension" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.modifierExtension.extension", "definition": { "short": "Additional Content defined by implementations", "formal": "May be used to represent additional information that is not part of the basic definition of the resource. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "synonym": [ "extensions", "user content" ], "min": 0, "max": "*", "type": [ { "code": "Extension" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.modifierExtension.modifierExtension", "definition": { "short": "Extensions that cannot be ignored", "formal": "May be used to represent additional information that is not part of the basic definition of the resource, and that modifies the understanding of the element that contains it. Usually modifier elements provide negation or qualification. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "synonym": [ "extensions", "user content" ], "min": 0, "max": "*", "type": [ { "code": "Extension" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.name", "definition": { "short": "The family member described", "formal": "The family member described.", "min": 0, "max": "1", "type": [ { "code": "string" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.relationship", "definition": { "short": "Relationship to the subject", "formal": "Relationship to the subject.", "min": 1, "max": "1", "type": [ { "code": "CodeableConcept" } ], "isModifier": false, "binding": { "name": "FamilialRelationship", "isExtensible": true, "conformance": "preferred", "referenceResource": { "reference": "http://hl7.org/fhir/v3/vs/FamilyMember" } } } }, { "path": "FamilyHistory.relation.born[x]", "definition": { "short": "(approximate) date of birth", "formal": "(approximate) date of birth.", "min": 0, "max": "1", "type": [ { "code": "Period" }, { "code": "date" }, { "code": "string" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.deceased[x]", "definition": { "short": "Dead? How old/when?", "formal": "Dead? How old/when?.", "min": 0, "max": "1", "type": [ { "code": "boolean" }, { "code": "Age" }, { "code": "Range" }, { "code": "string" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.note", "definition": { "short": "General note about related person", "formal": "General note about related person.", "min": 0, "max": "1", "type": [ { "code": "string" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.condition", "definition": { "short": "Condition that the related person had", "formal": "Condition that the related person had.", "min": 0, "max": "*", "isModifier": false } }, { "path": "FamilyHistory.relation.condition.extension", "name": "base extension", "slicing": { "discriminator": "url", "ordered": false, "rules": "open" } }, { "path": "FamilyHistory.relation.condition.extension", "definition": { "short": "Additional Content defined by implementations", "formal": "May be used to represent additional information that is not part of the basic definition of the resource. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "min": 0, "max": "*", "type": [ { "code": "Extension" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.condition.extension.extension", "definition": { "short": "Additional Content defined by implementations", "formal": "May be used to represent additional information that is not part of the basic definition of the resource. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "synonym": [ "extensions", "user content" ], "min": 0, "max": "*", "type": [ { "code": "Extension" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.condition.extension.modifierExtension", "definition": { "short": "Extensions that cannot be ignored", "formal": "May be used to represent additional information that is not part of the basic definition of the resource, and that modifies the understanding of the element that contains it. Usually modifier elements provide negation or qualification. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "synonym": [ "extensions", "user content" ], "min": 0, "max": "*", "type": [ { "code": "Extension" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.condition.modifierExtension", "name": "base modifierExtension", "slicing": { "discriminator": "url", "ordered": false, "rules": "open" } }, { "path": "FamilyHistory.relation.condition.modifierExtension", "definition": { "short": "Extensions that cannot be ignored", "formal": "May be used to represent additional information that is not part of the basic definition of the resource, and that modifies the understanding of the element that contains it. Usually modifier elements provide negation or qualification. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "min": 0, "max": "*", "type": [ { "code": "Extension" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.condition.modifierExtension.extension", "definition": { "short": "Additional Content defined by implementations", "formal": "May be used to represent additional information that is not part of the basic definition of the resource. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "synonym": [ "extensions", "user content" ], "min": 0, "max": "*", "type": [ { "code": "Extension" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.condition.modifierExtension.modifierExtension", "definition": { "short": "Extensions that cannot be ignored", "formal": "May be used to represent additional information that is not part of the basic definition of the resource, and that modifies the understanding of the element that contains it. Usually modifier elements provide negation or qualification. In order to make the use of extensions safe and manageable, there is a strict governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.", "comments": "there can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core simplicity for everyone.", "synonym": [ "extensions", "user content" ], "min": 0, "max": "*", "type": [ { "code": "Extension" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.condition.type", "definition": { "short": "Condition suffered by relation", "formal": "Condition suffered by relation.", "min": 1, "max": "1", "type": [ { "code": "CodeableConcept" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.condition.outcome", "definition": { "short": "deceased | permanent disability | etc.", "formal": "deceased | permanent disability | etc.", "min": 0, "max": "1", "type": [ { "code": "CodeableConcept" } ], "isModifier": false, "binding": { "name": "ConditionOutcome", "isExtensible": true, "conformance": "preferred", "description": "The result of the condition for the patient. E.g. death, permanent disability, temporary disability, etc." } } }, { "path": "FamilyHistory.relation.condition.onset[x]", "definition": { "short": "When condition first manifested", "formal": "When condition first manifested.", "min": 0, "max": "1", "type": [ { "code": "Age" }, { "code": "Range" }, { "code": "string" } ], "isModifier": false } }, { "path": "FamilyHistory.relation.condition.note", "definition": { "short": "Extra information about condition", "formal": "Extra information about condition.", "min": 0, "max": "1", "type": [ { "code": "string" } ], "isModifier": false } } ] } ], "extensionDefn": [ { "code": "relationParent", "display": "Mother(s) & Father(s) - genetic & other", "contextType": "resource", "context": [ "FamilyHistory.relation" ], "definition": { "short": "Mother(s) & Father(s) - genetic & other", "formal": "Identifies a parent of the relative.", "comments": "Some individuals may have more than two parents (e.g. genetic vs. adoptive parents). Even non-genetic relationships can be relevant in terms of genetic exposure.", "min": 0, "max": "*", "mustSupport": false, "isModifier": false, "mapping": [ { "identity": "rim", "map": "player[classCode<LIV, determinerCode=INSTANCE].scopesRole" } ] } }, { "code": "relationParent.type", "display": "mother | father | adoptive mother | etc.", "contextType": "extension", "context": [ "http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent" ], "definition": { "short": "mother | father | adoptive mother | etc.", "formal": "Distinguishes between different types of parental relationships with varying granularity to support capturing the relationship \"to the degree known\".", "min": 1, "max": "1", "type": [ { "code": "CodeableConcept" } ], "mustSupport": false, "isModifier": false, "binding": { "name": "ParentRelationshipType", "isExtensible": true, "referenceResource": { "reference": "http://hl7.org/fhir/vs/parent-relationship-codes" } }, "mapping": [ { "identity": "rim", "map": "code" } ] } }, { "code": "relationParent.identifier", "display": "Link to parent relative(s)", "contextType": "extension", "context": [ "http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent" ], "definition": { "short": "Link to parent relative(s)", "formal": "Points to the 'id' attribute on the relation who is the parent of this relation.", "min": 1, "max": "1", "type": [ { "code": "uri" } ], "mustSupport": false, "isModifier": false, "mapping": [ { "identity": "rim", "map": "player.id" } ] } }, { "code": "relationObservation", "display": "Genetic markers, ethnicity, etc.", "contextType": "resource", "context": [ "FamilyHistory.relation" ], "definition": { "short": "Genetic markers, ethnicity, etc.", "formal": "Allows capturing risk-relevant observations about the relative that aren't themselves a specific health condition. E.g. Certain ethnic ancestries that are disease-relevant, presence of particular genetic markers, etc.", "comments": "This may be extended with additional genomics-specific resources when they are ready.", "min": 0, "max": "*", "type": [ { "code": "Resource(Observation)" } ], "mustSupport": false, "isModifier": false, "mapping": [ { "identity": "rim", "map": "inboundRelationship[typeCode=SUBJ].source" } ] } } ] }