{
"description": "Variant information.",
"_filename": "StructureDefinition-observation-geneticsVariant.json",
"package_name": "hl7.fhir.uv.extensions",
"date": "2016-03-14",
"derivation": "constraint",
"publisher": "HL7 International / Orders and Observations",
"fhirVersion": "5.0.0",
"jurisdiction": [ {
"coding": [ {
"code": "001",
"system": "http://unstats.un.org/unsd/methods/m49/m49.htm"
} ]
} ],
"name": "Variant",
"mapping": [ {
"uri": "http://hl7.org/v2",
"name": "HL7 v2 Mapping",
"identity": "v2"
}, {
"uri": "http://hl7.org/v3",
"name": "RIM Mapping",
"identity": "rim"
} ],
"abstract": false,
"type": "Extension",
"experimental": null,
"resourceType": "StructureDefinition",
"title": "Variant",
"package_version": "5.3.0-ballot-tc",
"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"valueMarkdown": "This extension has been replaced by the profiles and extensions defined in the [Genomics Reporting Guide](https://hl7.org/fhir/uv/genomics-reporting/)"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",
"source": "http://hl7.org/fhir/StructureDefinition/Element",
"severity": "error",
"expression": "hasValue() or (children().count() > id.count())"
}, {
"key": "ext-1",
"human": "Must have either extensions or value[x], not both",
"source": "http://hl7.org/fhir/StructureDefinition/Extension",
"severity": "error",
"expression": "extension.exists() != value.exists()"
} ],
"path": "Extension",
"min": 0,
"definition": "Variant information.",
"isModifier": false,
"short": "Variant",
"max": "1",
"id": "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.",
"isModifier": false,
"short": "Unique id for inter-element referencing",
"mapping": [ {
"map": "n/a",
"identity": "rim"
} ],
"type": [ {
"code": "http://hl7.org/fhirpath/System.String",
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl": "id"
} ]
} ],
"representation": [ "xmlAttr" ],
"max": "1",
"id": "Extension.id",
"condition": [ "ele-1" ],
"base": {
"max": "1",
"min": 0,
"path": "Element.id"
},
"isSummary": false
}, {
"constraint": [ {
"key": "ele-1",
"human": "All FHIR elements must have a @value or children",
"source": "http://hl7.org/fhir/StructureDefinition/Element",
"severity": "error",
"expression": "hasValue() or (children().count() > id.count())"
}, {
"key": "ext-1",
"human": "Must have either extensions or value[x], not both",
"source": "http://hl7.org/fhir/StructureDefinition/Extension",
"severity": "error",
"expression": "extension.exists() != value.exists()"
} ],
"path": "Extension.extension",
"min": 0,
"definition": "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and managable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"isModifier": false,
"short": "Additional content defined by implementations",
"mapping": [ {
"map": "n/a",
"identity": "rim"
} ],
"slicing": {
"rules": "open",
"description": "Extensions are always sliced by (at least) url",
"discriminator": [ {
"path": "url",
"type": "value"
} ]
},
"type": [ {
"code": "Extension"
} ],
"alias": [ "extensions", "user content" ],
"max": "*",
"id": "Extension.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.",
"base": {
"max": "*",
"min": 0,
"path": "Element.extension"
},
"isSummary": false
}, {
"constraint": [ {
"key": "ele-1",
"human": "All FHIR elements must have a @value or children",
"source": "http://hl7.org/fhir/StructureDefinition/Element",
"severity": "error",
"expression": "hasValue() or (children().count() > id.count())"
}, {
"key": "ext-1",
"human": "Must have either extensions or value[x], not both",
"source": "http://hl7.org/fhir/StructureDefinition/Extension",
"severity": "error",
"expression": "extension.exists() != value.exists()"
} ],
"path": "Extension.extension",
"min": 0,
"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)).",
"isModifier": false,
"short": "HGVS nomenclature for observed DNA sequence variant",
"type": [ {
"code": "Extension"
} ],
"sliceName": "Name",
"max": "1",
"id": "Extension.extension:Name",
"base": {
"max": "*",
"min": 0,
"path": "Element.extension"
},
"isSummary": false
}, {
"path": "Extension.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.",
"isModifier": false,
"short": "Unique id for inter-element referencing",
"mapping": [ {
"map": "n/a",
"identity": "rim"
} ],
"type": [ {
"code": "http://hl7.org/fhirpath/System.String",
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl": "id"
} ]
} ],
"representation": [ "xmlAttr" ],
"max": "1",
"id": "Extension.extension:Name.id",
"condition": [ "ele-1" ],
"base": {
"max": "1",
"min": 0,
"path": "Element.id"
},
"isSummary": false
}, {
"constraint": [ {
"key": "ele-1",
"human": "All FHIR elements must have a @value or children",
"source": "http://hl7.org/fhir/StructureDefinition/Element",
"severity": "error",
"expression": "hasValue() or (children().count() > id.count())"
}, {
"key": "ext-1",
"human": "Must have either extensions or value[x], not both",
"source": "http://hl7.org/fhir/StructureDefinition/Extension",
"severity": "error",
"expression": "extension.exists() != value.exists()"
} ],
"path": "Extension.extension.extension",
"min": 0,
"definition": "An Extension",
"isModifier": false,
"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:Name.extension",
"base": {
"max": "*",
"min": 0,
"path": "Element.extension"
},
"isSummary": false
}, {
"path": "Extension.extension.url",
"min": 1,
"definition": "Source of the definition for the extension code - a logical name or a URL.",
"isModifier": false,
"short": "identifies the meaning of the extension",
"fixedUri": "Name",
"mapping": [ {
"map": "N/A",
"identity": "rim"
} ],
"type": [ {
"code": "uri"
} ],
"representation": [ "xmlAttr" ],
"max": "1",
"id": "Extension.extension:Name.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"
},
"isSummary": false
}, {
"constraint": [ {
"key": "ele-1",
"human": "All FHIR elements must have a @value or children",
"source": "http://hl7.org/fhir/StructureDefinition/Element",
"severity": "error",
"expression": "hasValue() or (children().count() > id.count())"
} ],
"path": "Extension.extension.value[x]",
"min": 1,
"definition": "Value of extension - must be one of a constrained set of the data types (see [Extensibility](http://hl7.org/fhir/R5/extensibility.html) for a list).",
"isModifier": false,
"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": "ClinVar-variant-database"
} ],
"description": "NCBI central repository of potentially clinically relevant variants."
},
"max": "1",
"id": "Extension.extension:Name.value[x]",
"condition": [ "ext-1" ],
"base": {
"max": "1",
"min": 0,
"path": "Extension.value[x]"
},
"isSummary": false
}, {
"constraint": [ {
"key": "ele-1",
"human": "All FHIR elements must have a @value or children",
"source": "http://hl7.org/fhir/StructureDefinition/Element",
"severity": "error",
"expression": "hasValue() or (children().count() > id.count())"
}, {
"key": "ext-1",
"human": "Must have either extensions or value[x], not both",
"source": "http://hl7.org/fhir/StructureDefinition/Extension",
"severity": "error",
"expression": "extension.exists() != value.exists()"
} ],
"path": "Extension.extension",
"min": 0,
"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)).",
"isModifier": false,
"short": "DNA sequence variant ID",
"type": [ {
"code": "Extension"
} ],
"sliceName": "Id",
"max": "1",
"id": "Extension.extension:Id",
"base": {
"max": "*",
"min": 0,
"path": "Element.extension"
},
"isSummary": false
}, {
"path": "Extension.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.",
"isModifier": false,
"short": "Unique id for inter-element referencing",
"mapping": [ {
"map": "n/a",
"identity": "rim"
} ],
"type": [ {
"code": "http://hl7.org/fhirpath/System.String",
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl": "id"
} ]
} ],
"representation": [ "xmlAttr" ],
"max": "1",
"id": "Extension.extension:Id.id",
"condition": [ "ele-1" ],
"base": {
"max": "1",
"min": 0,
"path": "Element.id"
},
"isSummary": false
}, {
"constraint": [ {
"key": "ele-1",
"human": "All FHIR elements must have a @value or children",
"source": "http://hl7.org/fhir/StructureDefinition/Element",
"severity": "error",
"expression": "hasValue() or (children().count() > id.count())"
}, {
"key": "ext-1",
"human": "Must have either extensions or value[x], not both",
"source": "http://hl7.org/fhir/StructureDefinition/Extension",
"severity": "error",
"expression": "extension.exists() != value.exists()"
} ],
"path": "Extension.extension.extension",
"min": 0,
"definition": "An Extension",
"isModifier": false,
"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:Id.extension",
"base": {
"max": "*",
"min": 0,
"path": "Element.extension"
},
"isSummary": false
}, {
"path": "Extension.extension.url",
"min": 1,
"definition": "Source of the definition for the extension code - a logical name or a URL.",
"isModifier": false,
"short": "identifies the meaning of the extension",
"fixedUri": "Id",
"mapping": [ {
"map": "N/A",
"identity": "rim"
} ],
"type": [ {
"code": "uri"
} ],
"representation": [ "xmlAttr" ],
"max": "1",
"id": "Extension.extension:Id.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"
},
"isSummary": false
}, {
"constraint": [ {
"key": "ele-1",
"human": "All FHIR elements must have a @value or children",
"source": "http://hl7.org/fhir/StructureDefinition/Element",
"severity": "error",
"expression": "hasValue() or (children().count() > id.count())"
} ],
"path": "Extension.extension.value[x]",
"min": 1,
"definition": "Value of extension - must be one of a constrained set of the data types (see [Extensibility](http://hl7.org/fhir/R5/extensibility.html) for a list).",
"isModifier": false,
"short": "Value of extension",
"mapping": [ {
"map": "N/A",
"identity": "rim"
} ],
"type": [ {
"code": "CodeableConcept"
} ],
"max": "1",
"id": "Extension.extension:Id.value[x]",
"condition": [ "ext-1" ],
"base": {
"max": "1",
"min": 0,
"path": "Extension.value[x]"
},
"isSummary": false
}, {
"constraint": [ {
"key": "ele-1",
"human": "All FHIR elements must have a @value or children",
"source": "http://hl7.org/fhir/StructureDefinition/Element",
"severity": "error",
"expression": "hasValue() or (children().count() > id.count())"
}, {
"key": "ext-1",
"human": "Must have either extensions or value[x], not both",
"source": "http://hl7.org/fhir/StructureDefinition/Extension",
"severity": "error",
"expression": "extension.exists() != value.exists()"
} ],
"path": "Extension.extension",
"min": 0,
"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)).",
"isModifier": false,
"short": "DNA sequence variant type",
"mapping": [ {
"map": "N/A",
"identity": "v2"
}, {
"map": "N/A",
"identity": "rim"
} ],
"type": [ {
"code": "Extension"
} ],
"sliceName": "Type",
"max": "1",
"id": "Extension.extension:Type",
"base": {
"max": "*",
"min": 0,
"path": "Element.extension"
},
"isSummary": false
}, {
"path": "Extension.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.",
"isModifier": false,
"short": "Unique id for inter-element referencing",
"mapping": [ {
"map": "n/a",
"identity": "rim"
} ],
"type": [ {
"code": "http://hl7.org/fhirpath/System.String",
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl": "id"
} ]
} ],
"representation": [ "xmlAttr" ],
"max": "1",
"id": "Extension.extension:Type.id",
"condition": [ "ele-1" ],
"base": {
"max": "1",
"min": 0,
"path": "Element.id"
},
"isSummary": false
}, {
"constraint": [ {
"key": "ele-1",
"human": "All FHIR elements must have a @value or children",
"source": "http://hl7.org/fhir/StructureDefinition/Element",
"severity": "error",
"expression": "hasValue() or (children().count() > id.count())"
}, {
"key": "ext-1",
"human": "Must have either extensions or value[x], not both",
"source": "http://hl7.org/fhir/StructureDefinition/Extension",
"severity": "error",
"expression": "extension.exists() != value.exists()"
} ],
"path": "Extension.extension.extension",
"min": 0,
"definition": "An Extension",
"isModifier": false,
"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:Type.extension",
"base": {
"max": "*",
"min": 0,
"path": "Element.extension"
},
"isSummary": false
}, {
"path": "Extension.extension.url",
"min": 1,
"definition": "Source of the definition for the extension code - a logical name or a URL.",
"isModifier": false,
"short": "identifies the meaning of the extension",
"fixedUri": "Type",
"mapping": [ {
"map": "N/A",
"identity": "rim"
} ],
"type": [ {
"code": "uri"
} ],
"representation": [ "xmlAttr" ],
"max": "1",
"id": "Extension.extension:Type.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"
},
"isSummary": false
}, {
"constraint": [ {
"key": "ele-1",
"human": "All FHIR elements must have a @value or children",
"source": "http://hl7.org/fhir/StructureDefinition/Element",
"severity": "error",
"expression": "hasValue() or (children().count() > id.count())"
} ],
"path": "Extension.extension.value[x]",
"min": 1,
"definition": "Value of extension - must be one of a constrained set of the data types (see [Extensibility](http://hl7.org/fhir/R5/extensibility.html) for a list).",
"isModifier": false,
"short": "Value of extension",
"mapping": [ {
"map": "N/A",
"identity": "rim"
} ],
"type": [ {
"code": "CodeableConcept"
} ],
"max": "1",
"id": "Extension.extension:Type.value[x]",
"condition": [ "ext-1" ],
"base": {
"max": "1",
"min": 0,
"path": "Extension.value[x]"
},
"isSummary": false
}, {
"path": "Extension.url",
"min": 1,
"definition": "Source of the definition for the extension code - a logical name or a URL.",
"isModifier": false,
"short": "identifies the meaning of the extension",
"fixedUri": "http://hl7.org/fhir/StructureDefinition/observation-geneticsVariant",
"mapping": [ {
"map": "N/A",
"identity": "rim"
} ],
"type": [ {
"code": "http://hl7.org/fhirpath/System.String",
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl": "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"
},
"isSummary": false
}, {
"constraint": [ {
"key": "ele-1",
"human": "All FHIR elements must have a @value or children",
"source": "http://hl7.org/fhir/StructureDefinition/Element",
"severity": "error",
"expression": "hasValue() or (children().count() > id.count())"
} ],
"path": "Extension.value[x]",
"min": 0,
"definition": "Value of extension - must be one of a constrained set of the data types (see [Extensibility](http://hl7.org/fhir/R5/extensibility.html) for a list).",
"isModifier": false,
"short": "Value of extension",
"mapping": [ {
"map": "N/A",
"identity": "rim"
} ],
"type": [ {
"code": "base64Binary"
}, {
"code": "boolean"
}, {
"code": "canonical"
}, {
"code": "code"
}, {
"code": "date"
}, {
"code": "dateTime"
}, {
"code": "decimal"
}, {
"code": "id"
}, {
"code": "instant"
}, {
"code": "integer"
}, {
"code": "integer64"
}, {
"code": "markdown"
}, {
"code": "oid"
}, {
"code": "positiveInt"
}, {
"code": "string"
}, {
"code": "time"
}, {
"code": "unsignedInt"
}, {
"code": "uri"
}, {
"code": "url"
}, {
"code": "uuid"
}, {
"code": "Address"
}, {
"code": "Age"
}, {
"code": "Annotation"
}, {
"code": "Attachment"
}, {
"code": "CodeableConcept"
}, {
"code": "CodeableReference"
}, {
"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": "RatioRange"
}, {
"code": "Reference"
}, {
"code": "SampledData"
}, {
"code": "Signature"
}, {
"code": "Timing"
}, {
"code": "ContactDetail"
}, {
"code": "DataRequirement"
}, {
"code": "Expression"
}, {
"code": "ParameterDefinition"
}, {
"code": "RelatedArtifact"
}, {
"code": "TriggerDefinition"
}, {
"code": "UsageContext"
}, {
"code": "Availability"
}, {
"code": "ExtendedContactDetail"
}, {
"code": "Dosage"
}, {
"code": "Meta"
} ],
"max": "0",
"id": "Extension.value[x]",
"condition": [ "ext-1" ],
"base": {
"max": "1",
"min": 0,
"path": "Extension.value[x]"
},
"isSummary": false
} ],
"extension": [ {
"url": "http://hl7.org/fhir/tools/StructureDefinition/snapshot-base-version",
"valueString": "5.0.0"
} ]
},
"status": "retired",
"id": "1b1ec3a5-405d-4dc1-98f9-333bc0504d74",
"kind": "complex-type",
"url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsVariant",
"context": [ {
"type": "element",
"expression": "Observation"
} ],
"version": "5.3.0-ballot-tc",
"differential": {
"element": [ {
"id": "Extension",
"max": "1",
"min": 0,
"path": "Extension",
"short": "Variant",
"definition": "Variant information."
}, {
"id": "Extension.extension:Name",
"max": "1",
"min": 0,
"path": "Extension.extension",
"type": [ {
"code": "Extension"
} ],
"short": "HGVS nomenclature for observed DNA sequence variant",
"sliceName": "Name",
"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))."
}, {
"id": "Extension.extension:Name.extension",
"max": "0",
"path": "Extension.extension.extension"
}, {
"id": "Extension.extension:Name.url",
"path": "Extension.extension.url",
"type": [ {
"code": "uri"
} ],
"fixedUri": "Name"
}, {
"id": "Extension.extension:Name.value[x]",
"min": 1,
"path": "Extension.extension.value[x]",
"type": [ {
"code": "CodeableConcept"
} ],
"binding": {
"strength": "example",
"extension": [ {
"url": "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString": "ClinVar-variant-database"
} ],
"description": "NCBI central repository of potentially clinically relevant variants."
}
}, {
"id": "Extension.extension:Id",
"max": "1",
"min": 0,
"path": "Extension.extension",
"type": [ {
"code": "Extension"
} ],
"short": "DNA sequence variant ID",
"sliceName": "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))."
}, {
"id": "Extension.extension:Id.extension",
"max": "0",
"path": "Extension.extension.extension"
}, {
"id": "Extension.extension:Id.url",
"path": "Extension.extension.url",
"type": [ {
"code": "uri"
} ],
"fixedUri": "Id"
}, {
"id": "Extension.extension:Id.value[x]",
"min": 1,
"path": "Extension.extension.value[x]",
"type": [ {
"code": "CodeableConcept"
} ]
}, {
"path": "Extension.extension",
"min": 0,
"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)).",
"short": "DNA sequence variant type",
"mapping": [ {
"map": "N/A",
"identity": "v2"
}, {
"map": "N/A",
"identity": "rim"
} ],
"type": [ {
"code": "Extension"
} ],
"sliceName": "Type",
"max": "1",
"id": "Extension.extension:Type"
}, {
"id": "Extension.extension:Type.extension",
"max": "0",
"path": "Extension.extension.extension"
}, {
"id": "Extension.extension:Type.url",
"path": "Extension.extension.url",
"type": [ {
"code": "uri"
} ],
"fixedUri": "Type"
}, {
"id": "Extension.extension:Type.value[x]",
"min": 1,
"path": "Extension.extension.value[x]",
"type": [ {
"code": "CodeableConcept"
} ]
}, {
"id": "Extension.url",
"path": "Extension.url",
"fixedUri": "http://hl7.org/fhir/StructureDefinition/observation-geneticsVariant"
}, {
"id": "Extension.value[x]",
"max": "0",
"min": 0,
"path": "Extension.value[x]"
} ]
},
"contact": [ {
"telecom": [ {
"value": "http://www.hl7.org/Special/committees/orders",
"system": "url"
} ]
} ],
"baseDefinition": "http://hl7.org/fhir/StructureDefinition/Extension"
}