R4 Draft for Comment
DiagnosticsThis page is part of the FHIR Specification (v3.2.0: R4 Ballot 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
| Orders and Observations Work Group | Maturity Level: N/A | Ballot Status: Informative |
Variant
{
"resourceType": "StructureDefinition",
"id": "observation-geneticsVariant",
"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-geneticsVariant",
"name": "Variant",
"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": "Variant information.",
"fhirVersion": "3.2.0",
"mapping": [
{
"identity": "v2",
"uri": "http://hl7.org/v2",
"name": "HL7 v2 Mapping"
},
{
"identity": "rim",
"uri": "http://hl7.org/v3",
"name": "RIM Mapping"
}
],
"kind": "complex-type",
"abstract": false,
"contextType": "resource",
"context": [
"Observation"
],
"type": "Extension",
"baseDefinition": "http://hl7.org/fhir/StructureDefinition/Extension",
"derivation": "constraint",
"snapshot": {
"element": [
{
"id": "Extension",
"path": "Extension",
"short": "Variant",
"definition": "Variant information.",
"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",
"expression": "hasValue() | (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "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": "Extension"
}
]
},
{
"id": "Extension.id",
"path": "Extension.id",
"representation": [
"xmlAttr"
],
"short": "xml:id (or equivalent in JSON)",
"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": [
{
"code": "string"
}
],
"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": "Additional Content defined by implementations",
"definition": "May be used to represent additional information that is not part of the basic definition of the element. In order to make the use of extensions safe and manageable, there is a strict set of 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.",
"comment": "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 level of simplicity for everyone.",
"alias": [
"extensions",
"user content"
],
"min": 0,
"max": "*",
"base": {
"path": "Element.extension",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Extension"
}
],
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "Extension.extension:name",
"path": "Extension.extension",
"sliceName": "Name",
"short": "HGVS nomenclature for observed DNA sequence variant",
"definition": "Human Genome Variation Society (HGVS) nomenclature for a single or set of DNA Sequence Variation(s) identified in testing. The use of the nomenclature is also used to describe non-variations (aka. wild types). LOINC Code: ([48004-6](http://loinc.org/48004-6)).",
"min": 0,
"max": "1",
"base": {
"path": "Element.extension",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Extension"
}
]
},
{
"id": "Extension.extension:name.id",
"path": "Extension.extension.id",
"representation": [
"xmlAttr"
],
"short": "xml:id (or equivalent in JSON)",
"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": [
{
"code": "string"
}
],
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "Extension.extension:name.extension",
"path": "Extension.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"
}
]
},
{
"id": "Extension.extension:name.url",
"path": "Extension.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": [
{
"code": "uri"
}
],
"fixedUri": "Name",
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "Extension.extension:name.valueCodeableConcept",
"path": "Extension.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": 0,
"max": "1",
"base": {
"path": "Extension.value[x]",
"min": 0,
"max": "1"
},
"type": [
{
"code": "CodeableConcept"
}
],
"binding": {
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString": "ClinVar-variant-database"
}
],
"strength": "preferred",
"description": "NCBI central repository of potentially clinically relevant variants",
"valueSetUri": "http://www.ncbi.nlm.nih.gov/clinvar/variation"
},
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "Extension.extension:id",
"path": "Extension.extension",
"sliceName": "Id",
"short": "DNA sequence variant ID",
"definition": "Identifier for DNA sequence variant. If a germline variant, ClinVar or dbSNP identifier should be used. If a somatic variant, COSMIC identifier should be used, unless in ClinVar then either maybe used. Need to provide the code system used (ClinVar, dbSNP, COSMIC) LOINC Code: ([48003-8](http://loinc.org/48003-8)).",
"min": 0,
"max": "1",
"base": {
"path": "Element.extension",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Extension"
}
]
},
{
"id": "Extension.extension:id.id",
"path": "Extension.extension.id",
"representation": [
"xmlAttr"
],
"short": "xml:id (or equivalent in JSON)",
"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": [
{
"code": "string"
}
],
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "Extension.extension:id.extension",
"path": "Extension.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"
}
]
},
{
"id": "Extension.extension:id.url",
"path": "Extension.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": [
{
"code": "uri"
}
],
"fixedUri": "Id",
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "Extension.extension:id.valueCodeableConcept",
"path": "Extension.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": 0,
"max": "1",
"base": {
"path": "Extension.value[x]",
"min": 0,
"max": "1"
},
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "Extension.extension:type",
"path": "Extension.extension",
"sliceName": "Type",
"short": "DNA sequence variant type",
"definition": "Codified type for associated DNA sequence variant. DNA sequence variants use the HGVS notation, which implies the DNA sequence variant type. LOINC Code: ([48019-4](http://loinc.org/48019-4)).",
"min": 0,
"max": "1",
"base": {
"path": "Element.extension",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Extension"
}
],
"mapping": [
{
"identity": "v2",
"map": "N/A"
},
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "Extension.extension:type.id",
"path": "Extension.extension.id",
"representation": [
"xmlAttr"
],
"short": "xml:id (or equivalent in JSON)",
"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": [
{
"code": "string"
}
],
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "Extension.extension:type.extension",
"path": "Extension.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"
}
]
},
{
"id": "Extension.extension:type.url",
"path": "Extension.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": [
{
"code": "uri"
}
],
"fixedUri": "Type",
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "Extension.extension:type.valueCodeableConcept",
"path": "Extension.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": 0,
"max": "1",
"base": {
"path": "Extension.value[x]",
"min": 0,
"max": "1"
},
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"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": [
{
"code": "uri"
}
],
"fixedUri": "http://hl7.org/fhir/StructureDefinition/observation-geneticsVariant",
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "Extension.value[x]",
"path": "Extension.value[x]",
"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": 0,
"max": "0",
"base": {
"path": "Extension.value[x]",
"min": 0,
"max": "1"
},
"type": [
{
"code": "base64Binary"
},
{
"code": "boolean"
},
{
"code": "code"
},
{
"code": "date"
},
{
"code": "dateTime"
},
{
"code": "decimal"
},
{
"code": "id"
},
{
"code": "instant"
},
{
"code": "integer"
},
{
"code": "markdown"
},
{
"code": "oid"
},
{
"code": "positiveInt"
},
{
"code": "string"
},
{
"code": "time"
},
{
"code": "unsignedInt"
},
{
"code": "uri"
},
{
"code": "Address"
},
{
"code": "Age"
},
{
"code": "Annotation"
},
{
"code": "Attachment"
},
{
"code": "CodeableConcept"
},
{
"code": "Coding"
},
{
"code": "ContactPoint"
},
{
"code": "Count"
},
{
"code": "Distance"
},
{
"code": "Duration"
},
{
"code": "HumanName"
},
{
"code": "Identifier"
},
{
"code": "Money"
},
{
"code": "Period"
},
{
"code": "Quantity"
},
{
"code": "Range"
},
{
"code": "Ratio"
},
{
"code": "Reference"
},
{
"code": "SampledData"
},
{
"code": "Signature"
},
{
"code": "Timing"
},
{
"code": "Dosage"
},
{
"code": "ContactDetail"
},
{
"code": "Contributor"
},
{
"code": "DataRequirement"
},
{
"code": "ParameterDefinition"
},
{
"code": "RelatedArtifact"
},
{
"code": "TriggerDefinition"
},
{
"code": "UsageContext"
},
{
"code": "Meta"
}
],
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
}
]
},
"differential": {
"element": [
{
"id": "Extension",
"path": "Extension",
"short": "Variant",
"definition": "Variant information.",
"min": 0,
"max": "1"
},
{
"id": "Extension.extension:name",
"path": "Extension.extension",
"sliceName": "Name",
"short": "HGVS nomenclature for observed DNA sequence variant",
"definition": "Human Genome Variation Society (HGVS) nomenclature for a single or set of DNA Sequence Variation(s) identified in testing. The use of the nomenclature is also used to describe non-variations (aka. wild types). LOINC Code: ([48004-6](http://loinc.org/48004-6)).",
"min": 0,
"max": "1",
"type": [
{
"code": "Extension"
}
]
},
{
"id": "Extension.extension:name.extension",
"path": "Extension.extension.extension",
"max": "0"
},
{
"id": "Extension.extension:name.url",
"path": "Extension.extension.url",
"type": [
{
"code": "uri"
}
],
"fixedUri": "Name"
},
{
"id": "Extension.extension:name.valueCodeableConcept",
"path": "Extension.extension.valueCodeableConcept",
"type": [
{
"code": "CodeableConcept"
}
],
"binding": {
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString": "ClinVar-variant-database"
}
],
"strength": "preferred",
"description": "NCBI central repository of potentially clinically relevant variants",
"valueSetUri": "http://www.ncbi.nlm.nih.gov/clinvar/variation"
}
},
{
"id": "Extension.extension:id",
"path": "Extension.extension",
"sliceName": "Id",
"short": "DNA sequence variant ID",
"definition": "Identifier for DNA sequence variant. If a germline variant, ClinVar or dbSNP identifier should be used. If a somatic variant, COSMIC identifier should be used, unless in ClinVar then either maybe used. Need to provide the code system used (ClinVar, dbSNP, COSMIC) LOINC Code: ([48003-8](http://loinc.org/48003-8)).",
"min": 0,
"max": "1",
"type": [
{
"code": "Extension"
}
]
},
{
"id": "Extension.extension:id.extension",
"path": "Extension.extension.extension",
"max": "0"
},
{
"id": "Extension.extension:id.url",
"path": "Extension.extension.url",
"type": [
{
"code": "uri"
}
],
"fixedUri": "Id"
},
{
"id": "Extension.extension:id.valueCodeableConcept",
"path": "Extension.extension.valueCodeableConcept",
"type": [
{
"code": "CodeableConcept"
}
]
},
{
"id": "Extension.extension:type",
"path": "Extension.extension",
"sliceName": "Type",
"short": "DNA sequence variant type",
"definition": "Codified type for associated DNA sequence variant. DNA sequence variants use the HGVS notation, which implies the DNA sequence variant type. LOINC Code: ([48019-4](http://loinc.org/48019-4)).",
"min": 0,
"max": "1",
"type": [
{
"code": "Extension"
}
],
"mapping": [
{
"identity": "v2",
"map": "N/A"
},
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "Extension.extension:type.extension",
"path": "Extension.extension.extension",
"max": "0"
},
{
"id": "Extension.extension:type.url",
"path": "Extension.extension.url",
"type": [
{
"code": "uri"
}
],
"fixedUri": "Type"
},
{
"id": "Extension.extension:type.valueCodeableConcept",
"path": "Extension.extension.valueCodeableConcept",
"type": [
{
"code": "CodeableConcept"
}
]
},
{
"id": "Extension.url",
"path": "Extension.url",
"type": [
{
"code": "uri"
}
],
"fixedUri": "http://hl7.org/fhir/StructureDefinition/observation-geneticsVariant"
},
{
"id": "Extension.value[x]",
"path": "Extension.value[x]",
"min": 0,
"max": "0"
}
]
}
}
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.
®© HL7.org 2011+. FHIR Release 4 Draft for Comment (Jan-2018 v3.2.0-12885) generated on Wed, Dec 20, 2017 15:56+1100. QA Page
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