Release 4B Snapshot #1
DiagnosticsThis page is part of the FHIR Specification (v4.3.0-snapshot1: Release 4B Snapshot #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 | Standards Status: Informative |
Raw JSON (canonical form + also see JSON Format Specification)
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",
"version" : "4.3.0-snapshot1",
"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" : "4.3.0-snapshot1",
"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,
"context" : [{
"type" : "element",
"expression" : "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 unless an empty Parameters resource",
"expression" : "hasValue() or (children().count() > id.count()) or $this is Parameters",
"xpath" : "@value|f:*|h:div|self::f:Parameters",
"source" : "http://hl7.org/fhir/StructureDefinition/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" : "http://hl7.org/fhir/StructureDefinition/Extension"
}],
"isModifier" : false
},
{
"id" : "Extension.id",
"path" : "Extension.id",
"representation" : ["xmlAttr"],
"short" : "Unique id for inter-element referencing",
"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" : [{
"extension" : [{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}],
"code" : "http://hl7.org/fhirpath/System.String"
}],
"isModifier" : false,
"isSummary" : false,
"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. 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 can 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"
}],
"constraint" : [{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/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" : "http://hl7.org/fhir/StructureDefinition/Extension"
}],
"isModifier" : false,
"isSummary" : false,
"mapping" : [{
"identity" : "rim",
"map" : "n/a"
}]
},
{
"id" : "Extension.extension:Name",
"path" : "Extension.extension",
"sliceName" : "Name",
"short" : "HGVS nomenclature for observed DNA sequence variant",
"definition" : "The material on this page will be removed in a future release. This content is deprecated and SHOULD NOT be used. Implementers are instead directed to the ([Genomics Reporting Implementation Guide](http://hl7.org/fhir/uv/genomics-reporting/index.html)) for guidance. 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"
}],
"constraint" : [{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/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" : "http://hl7.org/fhir/StructureDefinition/Extension"
}],
"isModifier" : false,
"isSummary" : false
},
{
"id" : "Extension.extension:Name.id",
"path" : "Extension.extension.id",
"representation" : ["xmlAttr"],
"short" : "Unique id for inter-element referencing",
"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" : [{
"extension" : [{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}],
"code" : "http://hl7.org/fhirpath/System.String"
}],
"isModifier" : false,
"isSummary" : false,
"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"
}],
"constraint" : [{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/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" : "http://hl7.org/fhir/StructureDefinition/Extension"
}],
"isModifier" : false,
"isSummary" : false
},
{
"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",
"isModifier" : false,
"isSummary" : false,
"mapping" : [{
"identity" : "rim",
"map" : "N/A"
}]
},
{
"id" : "Extension.extension:Name.value[x]",
"path" : "Extension.extension.value[x]",
"short" : "Value of extension",
"definition" : "Value of extension - must be one of a constrained set of the data types (see [Extensibility](extensibility.html) for a list).",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Extension.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [{
"code" : "CodeableConcept"
}],
"constraint" : [{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}],
"isModifier" : false,
"isSummary" : false,
"binding" : {
"extension" : [{
"url" : "http://hl7.org/fhir/build/StructureDefinition/definition",
"valueString" : "NCBI central repository of potentially clinically relevant variants."
},
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ClinVar-variant-database"
}],
"strength" : "preferred",
"description" : "NCBI central repository for curating pathogenicity of potentially clinically relevant variants",
"valueSet" : "http://hl7.org/fhir/ValueSet/clinvar"
},
"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"
}],
"constraint" : [{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/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" : "http://hl7.org/fhir/StructureDefinition/Extension"
}],
"isModifier" : false,
"isSummary" : false
},
{
"id" : "Extension.extension:Id.id",
"path" : "Extension.extension.id",
"representation" : ["xmlAttr"],
"short" : "Unique id for inter-element referencing",
"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" : [{
"extension" : [{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}],
"code" : "http://hl7.org/fhirpath/System.String"
}],
"isModifier" : false,
"isSummary" : false,
"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"
}],
"constraint" : [{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/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" : "http://hl7.org/fhir/StructureDefinition/Extension"
}],
"isModifier" : false,
"isSummary" : false
},
{
"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",
"isModifier" : false,
"isSummary" : false,
"mapping" : [{
"identity" : "rim",
"map" : "N/A"
}]
},
{
"id" : "Extension.extension:Id.value[x]",
"path" : "Extension.extension.value[x]",
"short" : "Value of extension",
"definition" : "Value of extension - must be one of a constrained set of the data types (see [Extensibility](extensibility.html) for a list).",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Extension.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [{
"code" : "CodeableConcept"
}],
"constraint" : [{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}],
"isModifier" : false,
"isSummary" : false,
"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"
}],
"constraint" : [{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/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" : "http://hl7.org/fhir/StructureDefinition/Extension"
}],
"isModifier" : false,
"isSummary" : false,
"mapping" : [{
"identity" : "v2",
"map" : "N/A"
},
{
"identity" : "rim",
"map" : "N/A"
}]
},
{
"id" : "Extension.extension:Type.id",
"path" : "Extension.extension.id",
"representation" : ["xmlAttr"],
"short" : "Unique id for inter-element referencing",
"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" : [{
"extension" : [{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "string"
}],
"code" : "http://hl7.org/fhirpath/System.String"
}],
"isModifier" : false,
"isSummary" : false,
"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"
}],
"constraint" : [{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/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" : "http://hl7.org/fhir/StructureDefinition/Extension"
}],
"isModifier" : false,
"isSummary" : false
},
{
"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",
"isModifier" : false,
"isSummary" : false,
"mapping" : [{
"identity" : "rim",
"map" : "N/A"
}]
},
{
"id" : "Extension.extension:Type.value[x]",
"path" : "Extension.extension.value[x]",
"short" : "Value of extension",
"definition" : "Value of extension - must be one of a constrained set of the data types (see [Extensibility](extensibility.html) for a list).",
"min" : 1,
"max" : "1",
"base" : {
"path" : "Extension.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [{
"code" : "CodeableConcept"
}],
"constraint" : [{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}],
"isModifier" : false,
"isSummary" : false,
"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" : [{
"extension" : [{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl" : "uri"
}],
"code" : "http://hl7.org/fhirpath/System.String"
}],
"fixedUri" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsVariant",
"isModifier" : false,
"isSummary" : false,
"mapping" : [{
"identity" : "rim",
"map" : "N/A"
}]
},
{
"id" : "Extension.value[x]",
"path" : "Extension.value[x]",
"short" : "Value of extension",
"definition" : "Value of extension - must be one of a constrained set of the data types (see [Extensibility](extensibility.html) for a list).",
"min" : 0,
"max" : "0",
"base" : {
"path" : "Extension.value[x]",
"min" : 0,
"max" : "1"
},
"type" : [{
"code" : "base64Binary"
},
{
"code" : "boolean"
},
{
"code" : "canonical"
},
{
"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" : "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" : "Contributor"
},
{
"code" : "DataRequirement"
},
{
"code" : "Expression"
},
{
"code" : "ParameterDefinition"
},
{
"code" : "RelatedArtifact"
},
{
"code" : "TriggerDefinition"
},
{
"code" : "UsageContext"
},
{
"code" : "Dosage"
},
{
"code" : "Meta"
}],
"constraint" : [{
"key" : "ele-1",
"severity" : "error",
"human" : "All FHIR elements must have a @value or children",
"expression" : "hasValue() or (children().count() > id.count())",
"xpath" : "@value|f:*|h:div",
"source" : "http://hl7.org/fhir/StructureDefinition/Element"
}],
"isModifier" : false,
"isSummary" : false,
"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" : "The material on this page will be removed in a future release. This content is deprecated and SHOULD NOT be used. Implementers are instead directed to the ([Genomics Reporting Implementation Guide](http://hl7.org/fhir/uv/genomics-reporting/index.html)) for guidance. 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.value[x]",
"path" : "Extension.extension.value[x]",
"min" : 1,
"type" : [{
"code" : "CodeableConcept"
}],
"binding" : {
"extension" : [{
"url" : "http://hl7.org/fhir/build/StructureDefinition/definition",
"valueString" : "NCBI central repository of potentially clinically relevant variants."
},
{
"url" : "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString" : "ClinVar-variant-database"
}],
"strength" : "preferred",
"description" : "NCBI central repository for curating pathogenicity of potentially clinically relevant variants",
"valueSet" : "http://hl7.org/fhir/ValueSet/clinvar"
}
},
{
"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.value[x]",
"path" : "Extension.extension.value[x]",
"min" : 1,
"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.value[x]",
"path" : "Extension.extension.value[x]",
"min" : 1,
"type" : [{
"code" : "CodeableConcept"
}]
},
{
"id" : "Extension.url",
"path" : "Extension.url",
"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.
FHIR ®© HL7.org 2011+. FHIR R4B Ballot #1 hl7.fhir.core#4.3.0-snapshot1 generated on Mon, Dec 20, 2021 14:12+1100.
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