This page is part of the FHIR Specification (v3.5a.0: R4 Ballot 4). The current version which supercedes this version is 4.0.1. For a full list of available versions, see the Directory of published versions
Clinical Genomics Work Group | Maturity Level: N/A | Ballot Status: Informative | Compartments: Not linked to any defined compartments |
Raw Turtle (+ also see Turtle/RDF Format Specification)
StructureDefinition for sequence
@prefix fhir: <http://hl7.org/fhir/> . @prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> . # - resource ------------------------------------------------------------------- [] a fhir:StructureDefinition; fhir:Resource.id [ fhir:value "Sequence"]; fhir:Resource.meta [ fhir:Meta.lastUpdated [ fhir:value "2018-08-19T21:48:56.559+10:00" ] ]; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ]; fhir:DomainResource.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-category" ]; fhir:Extension.value [ fhir:value "Clinical.Diagnostics" ] ], [ fhir:index 1; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status" ]; fhir:Extension.value [ fhir:value "Trial Use" ] ], [ fhir:index 2; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm" ]; fhir:Extension.value [ fhir:value "1" ] ], [ fhir:index 3; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg" ]; fhir:Extension.value [ fhir:value "cg" ] ]; fhir:StructureDefinition.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/Sequence"]; fhir:StructureDefinition.name [ fhir:value "Sequence"]; fhir:StructureDefinition.status [ fhir:value "draft"]; fhir:StructureDefinition.date [ fhir:value "2018-08-19T21:48:56+10:00"]; fhir:StructureDefinition.publisher [ fhir:value "Health Level Seven International (Clinical Genomics)"]; fhir:StructureDefinition.contact [ fhir:index 0; fhir:ContactDetail.telecom [ fhir:index 0; fhir:ContactPoint.system [ fhir:value "url" ]; fhir:ContactPoint.value [ fhir:value "http://hl7.org/fhir" ] ] ], [ fhir:index 1; fhir:ContactDetail.telecom [ fhir:index 0; fhir:ContactPoint.system [ fhir:value "url" ]; fhir:ContactPoint.value [ fhir:value "http://www.hl7.org/Special/committees/clingenomics/index.cfm" ] ] ]; fhir:StructureDefinition.description [ fhir:value "Raw data describing a biological sequence."]; fhir:StructureDefinition.fhirVersion [ fhir:value "3.5a.0"]; fhir:StructureDefinition.mapping [ fhir:index 0; fhir:StructureDefinition.identity [ fhir:value "w5" ]; fhir:StructureDefinition.uri [ fhir:value "http://hl7.org/fhir/fivews" ]; fhir:StructureDefinition.name [ fhir:value "FiveWs Pattern" ] ], [ fhir:index 1; fhir:StructureDefinition.identity [ fhir:value "rim" ]; fhir:StructureDefinition.uri [ fhir:value "http://hl7.org/v3" ]; fhir:StructureDefinition.name [ fhir:value "RIM Mapping" ] ]; fhir:StructureDefinition.kind [ fhir:value "resource"]; fhir:StructureDefinition.abstract [ fhir:value "false"]; fhir:StructureDefinition.type [ fhir:value "Sequence"]; fhir:StructureDefinition.baseDefinition [ fhir:value "http://hl7.org/fhir/StructureDefinition/DomainResource"]; fhir:StructureDefinition.derivation [ fhir:value "specialization"]; fhir:StructureDefinition.snapshot [ fhir:StructureDefinition.element [ fhir:index 0; fhir:Element.id [ fhir:value "Sequence" ]; fhir:ElementDefinition.path [ fhir:value "Sequence" ]; fhir:ElementDefinition.short [ fhir:value "Information about a biological sequence" ]; fhir:ElementDefinition.definition [ fhir:value "Raw data describing a biological sequence." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.constraint [ fhir:index 0; fhir:ElementDefinition.key [ fhir:value "dom-2" ]; fhir:ElementDefinition.severity [ fhir:value "error" ]; fhir:ElementDefinition.human [ fhir:value "If the resource is contained in another resource, it SHALL NOT contain nested Resources" ]; fhir:ElementDefinition.expression [ fhir:value "contained.contained.empty()" ]; fhir:ElementDefinition.xpath [ fhir:value "not(parent::f:contained and f:contained)" ]; fhir:ElementDefinition.source [ fhir:value "DomainResource" ] ], [ fhir:index 1; fhir:ElementDefinition.key [ fhir:value "dom-4" ]; fhir:ElementDefinition.severity [ fhir:value "error" ]; fhir:ElementDefinition.human [ fhir:value "If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated" ]; fhir:ElementDefinition.expression [ fhir:value "contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()" ]; fhir:ElementDefinition.xpath [ fhir:value "not(exists(f:contained/*/f:meta/f:versionId)) and not(exists(f:contained/*/f:meta/f:lastUpdated))" ]; fhir:ElementDefinition.source [ fhir:value "DomainResource" ] ], [ fhir:index 2; fhir:ElementDefinition.key [ fhir:value "dom-3" ]; fhir:ElementDefinition.severity [ fhir:value "error" ]; fhir:ElementDefinition.human [ fhir:value "If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource" ]; fhir:ElementDefinition.expression [ fhir:value "contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()" ]; fhir:ElementDefinition.xpath [ fhir:value "not(exists(for $contained in f:contained return $contained[not(parent::*/descendant::f:reference/@value=concat('#', $contained/*/id/@value) or descendant::f:reference[@value='#'])]))" ]; fhir:ElementDefinition.source [ fhir:value "DomainResource" ] ], [ fhir:index 3; fhir:Element.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/elementdefinition-bestpractice" ]; fhir:Extension.value [ fhir:value "true" ] ], [ fhir:index 1; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/elementdefinition-bestpractice-explanation" ]; fhir:Extension.value [ fhir:value "When a resource has no narrative, only systems that fully understand the data can display the resource to a human safely. Including a guman readable representation in the resource makes for a much more robust eco-system and cheaper handling of resources by intermediary systems. Some ecosystems restrict distribution of resources to only those systems that do fully understand the resources, and as a consequence implementers may believe that the narrative is superfluous. However experience shows that such eco-systems often open up to new participants over time." ] ]; fhir:ElementDefinition.key [ fhir:value "dom-6" ]; fhir:ElementDefinition.severity [ fhir:value "warning" ]; fhir:ElementDefinition.human [ fhir:value "A resource should have narrative for robust management" ]; fhir:ElementDefinition.expression [ fhir:value "text.div.exists()" ]; fhir:ElementDefinition.xpath [ fhir:value "exists(f:text/h:div)" ]; fhir:ElementDefinition.source [ fhir:value "DomainResource" ] ], [ fhir:index 4; fhir:ElementDefinition.key [ fhir:value "dom-5" ]; fhir:ElementDefinition.severity [ fhir:value "error" ]; fhir:ElementDefinition.human [ fhir:value "If a resource is contained in another resource, it SHALL NOT have a security label" ]; fhir:ElementDefinition.expression [ fhir:value "contained.meta.security.empty()" ]; fhir:ElementDefinition.xpath [ fhir:value "not(exists(f:contained/*/f:meta/f:security))" ]; fhir:ElementDefinition.source [ fhir:value "DomainResource" ] ], [ fhir:index 5; fhir:ElementDefinition.key [ fhir:value "seq-3" ]; fhir:ElementDefinition.severity [ fhir:value "error" ]; fhir:ElementDefinition.human [ fhir:value "Only 0 and 1 are valid for coordinateSystem" ]; fhir:ElementDefinition.expression [ fhir:value "coordinateSystem = 1 or coordinateSystem = 0" ]; fhir:ElementDefinition.xpath [ fhir:value "count(f:coordinateSystem[@value=0 and @value=1]) = 1" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "false" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "Entity. Role, or Act" ] ] ], [ fhir:index 1; fhir:Element.id [ fhir:value "Sequence.id" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.id" ]; fhir:ElementDefinition.short [ fhir:value "Logical id of this artifact" ]; fhir:ElementDefinition.definition [ fhir:value "The logical id of the resource, as used in the URL for the resource. Once assigned, this value never changes." ]; fhir:ElementDefinition.comment [ fhir:value "The only time that a resource does not have an id is when it is being submitted to the server using a create operation." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Resource.id" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "id" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 2; fhir:Element.id [ fhir:value "Sequence.meta" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.meta" ]; fhir:ElementDefinition.short [ fhir:value "Metadata about the resource" ]; fhir:ElementDefinition.definition [ fhir:value "The metadata about the resource. This is content that is maintained by the infrastructure. Changes to the content might not always be associated with version changes to the resource." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Resource.meta" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Meta" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 3; fhir:Element.id [ fhir:value "Sequence.implicitRules" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.implicitRules" ]; fhir:ElementDefinition.short [ fhir:value "A set of rules under which this content was created" ]; fhir:ElementDefinition.definition [ fhir:value "A reference to a set of rules that were followed when the resource was constructed, and which must be understood when processing the content. Often, this is a reference to an implementation guide that defines the special rules along with other profiles etc." ]; fhir:ElementDefinition.comment [ fhir:value "Asserting this rule set restricts the content to be only understood by a limited set of trading partners. This inherently limits the usefulness of the data in the long term. However, the existing health eco-system is highly fractured, and not yet ready to define, collect, and exchange data in a generally computable sense. Wherever possible, implementers and/or specification writers should avoid using this element. Often, when used, the URL is a reference to an implementation guide that defines these special rules as part of it's narrative along with other profiles, value sets, etc." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Resource.implicitRules" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "uri" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "true" ]; fhir:ElementDefinition.isModifierReason [ fhir:value "This element is labeled as a modifier because the implicit rules may provide additional knowledge about the resource that modifies it's meaning or interpretation" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 4; fhir:Element.id [ fhir:value "Sequence.language" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.language" ]; fhir:ElementDefinition.short [ fhir:value "Language of the resource content" ]; fhir:ElementDefinition.definition [ fhir:value "The base language in which the resource is written." ]; fhir:ElementDefinition.comment [ fhir:value "Language is provided to support indexing and accessibility (typically, services such as text to speech use the language tag). The html language tag in the narrative applies to the narrative. The language tag on the resource may be used to specify the language of other presentations generated from the data in the resource. Not all the content has to be in the base language. The Resource.language should not be assumed to apply to the narrative automatically. If a language is specified, it should it also be specified on the div element in the html (see rules in HTML5 for information about the relationship between xml:lang and the html lang attribute)." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Resource.language" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "code" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "false" ]; fhir:ElementDefinition.binding [ fhir:Element.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/elementdefinition-maxValueSet" ]; fhir:Extension.value [ fhir:value "http://hl7.org/fhir/ValueSet/all-languages" ] ], [ fhir:index 1; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName" ]; fhir:Extension.value [ fhir:value "Language" ] ], [ fhir:index 2; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/elementdefinition-isCommonBinding" ]; fhir:Extension.value [ fhir:value "true" ] ]; fhir:ElementDefinition.strength [ fhir:value "preferred" ]; fhir:ElementDefinition.description [ fhir:value "A human language." ]; fhir:ElementDefinition.valueSet [ fhir:value "http://hl7.org/fhir/ValueSet/languages" ] ] ], [ fhir:index 5; fhir:Element.id [ fhir:value "Sequence.text" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.text" ]; fhir:ElementDefinition.short [ fhir:value "Text summary of the resource, for human interpretation" ]; fhir:ElementDefinition.definition [ fhir:value "A human-readable narrative that contains a summary of the resource and can 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." ]; fhir:ElementDefinition.comment [ fhir:value "Contained resources do not have narrative. Resources that are not contained SHOULD have a narrative. In some cases, a resource may only have text with little or no additional discrete data (as long as all minOccurs=1 elements are satisfied). This may be necessary for data from legacy systems where information is captured as a \"text blob\" or where text is additionally entered raw or narrated and encoded information is added later." ]; fhir:ElementDefinition.alias [ fhir:value "narrative"; fhir:index 0 ], [ fhir:value "html"; fhir:index 1 ], [ fhir:value "xhtml"; fhir:index 2 ], [ fhir:value "display"; fhir:index 3 ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "DomainResource.text" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Narrative" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "false" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "Act.text?" ] ] ], [ fhir:index 6; fhir:Element.id [ fhir:value "Sequence.contained" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.contained" ]; fhir:ElementDefinition.short [ fhir:value "Contained, inline Resources" ]; fhir:ElementDefinition.definition [ fhir:value "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." ]; fhir:ElementDefinition.comment [ fhir:value "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. Contained resources may have profiles and tags In their meta elements, but SHALL NOT have security labels." ]; fhir:ElementDefinition.alias [ fhir:value "inline resources"; fhir:index 0 ], [ fhir:value "anonymous resources"; fhir:index 1 ], [ fhir:value "contained resources"; fhir:index 2 ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "DomainResource.contained" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Resource" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "false" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "N/A" ] ] ], [ fhir:index 7; fhir:Element.id [ fhir:value "Sequence.extension" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.extension" ]; fhir:ElementDefinition.short [ fhir:value "Additional Content defined by implementations" ]; fhir:ElementDefinition.definition [ fhir:value "May be used to represent additional information that is not part of the basic definition of the resource. 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." ]; fhir:ElementDefinition.comment [ fhir:value "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." ]; fhir:ElementDefinition.alias [ fhir:value "extensions"; fhir:index 0 ], [ fhir:value "user content"; fhir:index 1 ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "DomainResource.extension" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Extension" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "false" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "N/A" ] ] ], [ fhir:index 8; fhir:Element.id [ fhir:value "Sequence.modifierExtension" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.modifierExtension" ]; fhir:ElementDefinition.short [ fhir:value "Extensions that cannot be ignored" ]; fhir:ElementDefinition.definition [ fhir:value "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. 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. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself)." ]; fhir:ElementDefinition.comment [ fhir:value "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." ]; fhir:ElementDefinition.alias [ fhir:value "extensions"; fhir:index 0 ], [ fhir:value "user content"; fhir:index 1 ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "DomainResource.modifierExtension" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Extension" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "true" ]; fhir:ElementDefinition.isModifierReason [ fhir:value "Modifier extensions are expected to modify the meaning or interpretation of the resource that contains them" ]; fhir:ElementDefinition.isSummary [ fhir:value "false" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "N/A" ] ] ], [ fhir:index 9; fhir:Element.id [ fhir:value "Sequence.identifier" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.identifier" ]; fhir:ElementDefinition.short [ fhir:value "Unique ID for this particular sequence. This is a FHIR-defined id" ]; fhir:ElementDefinition.definition [ fhir:value "A unique identifier for this particular sequence instance. This is a FHIR-defined id." ]; fhir:ElementDefinition.requirements [ fhir:value "Allows sequences to be distinguished and referenced." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.identifier" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Identifier" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "w5" ]; fhir:ElementDefinition.map [ fhir:value "FiveWs.identifier" ] ] ], [ fhir:index 10; fhir:Element.id [ fhir:value "Sequence.type" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.type" ]; fhir:ElementDefinition.short [ fhir:value "aa | dna | rna" ]; fhir:ElementDefinition.definition [ fhir:value "Amino Acid Sequence/ DNA Sequence / RNA Sequence." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.type" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "code" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.binding [ fhir:Element.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName" ]; fhir:Extension.value [ fhir:value "sequenceType" ] ]; fhir:ElementDefinition.strength [ fhir:value "example" ]; fhir:ElementDefinition.description [ fhir:value "Type if a sequence -- DNA, RNA, or amino acid sequence." ]; fhir:ElementDefinition.valueSet [ fhir:value "http://hl7.org/fhir/ValueSet/sequence-type" ] ] ], [ fhir:index 11; fhir:Element.id [ fhir:value "Sequence.coordinateSystem" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.coordinateSystem" ]; fhir:ElementDefinition.short [ fhir:value "Base number of coordinate system (0 for 0-based numbering or coordinates, inclusive start, exclusive end, 1 for 1-based numbering, inclusive start, inclusive end)" ]; fhir:ElementDefinition.definition [ fhir:value "Whether the sequence is numbered starting at 0 (0-based numbering or coordinates, inclusive start, exclusive end) or starting at 1 (1-based numbering, inclusive start and inclusive end)." ]; fhir:ElementDefinition.min [ fhir:value "1" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.coordinateSystem" ]; fhir:ElementDefinition.min [ fhir:value "1" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 12; fhir:Element.id [ fhir:value "Sequence.patient" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.patient" ]; fhir:ElementDefinition.short [ fhir:value "Who and/or what this is about" ]; fhir:ElementDefinition.definition [ fhir:value "The patient whose sequencing results are described by this resource." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.patient" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Reference" ]; fhir:ElementDefinition.targetProfile [ fhir:value "http://hl7.org/fhir/StructureDefinition/Patient"; fhir:index 0 ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 13; fhir:Element.id [ fhir:value "Sequence.specimen" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.specimen" ]; fhir:ElementDefinition.short [ fhir:value "Specimen used for sequencing" ]; fhir:ElementDefinition.definition [ fhir:value "Specimen used for sequencing." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.specimen" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Reference" ]; fhir:ElementDefinition.targetProfile [ fhir:value "http://hl7.org/fhir/StructureDefinition/Specimen"; fhir:index 0 ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 14; fhir:Element.id [ fhir:value "Sequence.device" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.device" ]; fhir:ElementDefinition.short [ fhir:value "The method for sequencing" ]; fhir:ElementDefinition.definition [ fhir:value "The method for sequencing, for example, chip information." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.device" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Reference" ]; fhir:ElementDefinition.targetProfile [ fhir:value "http://hl7.org/fhir/StructureDefinition/Device"; fhir:index 0 ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 15; fhir:Element.id [ fhir:value "Sequence.performer" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.performer" ]; fhir:ElementDefinition.short [ fhir:value "Who should be responsible for test result" ]; fhir:ElementDefinition.definition [ fhir:value "The organization or lab that should be responsible for this result." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.performer" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Reference" ]; fhir:ElementDefinition.targetProfile [ fhir:value "http://hl7.org/fhir/StructureDefinition/Organization"; fhir:index 0 ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 16; fhir:Element.id [ fhir:value "Sequence.quantity" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quantity" ]; fhir:ElementDefinition.short [ fhir:value "The number of copies of the seqeunce of interest. (RNASeq)" ]; fhir:ElementDefinition.definition [ fhir:value "The number of copies of the seqeunce of interest. (RNASeq)." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.quantity" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Quantity" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 17; fhir:Element.id [ fhir:value "Sequence.referenceSeq" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq" ]; fhir:ElementDefinition.short [ fhir:value "A sequence used as reference" ]; fhir:ElementDefinition.definition [ fhir:value "A sequence that is used as a reference to describe variants that are present in a sequence analyzed." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "BackboneElement" ] ]; fhir:ElementDefinition.constraint [ fhir:index 0; fhir:ElementDefinition.key [ fhir:value "ele-1" ]; fhir:ElementDefinition.severity [ fhir:value "error" ]; fhir:ElementDefinition.human [ fhir:value "All FHIR elements must have a @value or children" ]; fhir:ElementDefinition.expression [ fhir:value "hasValue() or (children().count() > id.count())" ]; fhir:ElementDefinition.xpath [ fhir:value "@value|f:*|h:div" ]; fhir:ElementDefinition.source [ fhir:value "Element" ] ], [ fhir:index 1; fhir:ElementDefinition.key [ fhir:value "seq-5" ]; fhir:ElementDefinition.severity [ fhir:value "error" ]; fhir:ElementDefinition.human [ fhir:value "GenomeBuild and chromosome must be both contained if either one of them is contained" ]; fhir:ElementDefinition.expression [ fhir:value "(chromosome.empty() and genomeBuild.empty()) or (chromosome.exists() and genomeBuild.exists())" ]; fhir:ElementDefinition.xpath [ fhir:value "(exists(f:chromosome) and exists(f:genomeBuild)) or (not(exists(f:chromosome)) and not(exists(f:genomeBuild)))" ] ], [ fhir:index 2; fhir:ElementDefinition.key [ fhir:value "seq-6" ]; fhir:ElementDefinition.severity [ fhir:value "error" ]; fhir:ElementDefinition.human [ fhir:value "Have and only have one of the following elements in referenceSeq : 1. genomeBuild ; 2 referenceSeqId; 3. referenceSeqPointer; 4. referenceSeqString;" ]; fhir:ElementDefinition.expression [ fhir:value "(genomeBuild.count()+referenceSeqId.count()+ referenceSeqPointer.count()+ referenceSeqString.count()) = 1" ]; fhir:ElementDefinition.xpath [ fhir:value "count(f:genomeBuild)+count(f:referenceSeqId)+count(f:referenceSeqPointer)+count(f:referenceSeqString)=1" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 18; fhir:Element.id [ fhir:value "Sequence.referenceSeq.id" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.id" ]; fhir:ElementDefinition.representation [ fhir:value "xmlAttr"; fhir:index 0 ]; fhir:ElementDefinition.short [ fhir:value "xml:id (or equivalent in JSON)" ]; fhir:ElementDefinition.definition [ fhir:value "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Element.id" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "false" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "n/a" ] ] ], [ fhir:index 19; fhir:Element.id [ fhir:value "Sequence.referenceSeq.extension" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.extension" ]; fhir:ElementDefinition.short [ fhir:value "Additional content defined by implementations" ]; fhir:ElementDefinition.definition [ fhir:value "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." ]; fhir:ElementDefinition.comment [ fhir:value "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." ]; fhir:ElementDefinition.alias [ fhir:value "extensions"; fhir:index 0 ], [ fhir:value "user content"; fhir:index 1 ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Element.extension" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Extension" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "false" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "n/a" ] ] ], [ fhir:index 20; fhir:Element.id [ fhir:value "Sequence.referenceSeq.modifierExtension" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.modifierExtension" ]; fhir:ElementDefinition.short [ fhir:value "Extensions that cannot be ignored if unrecognized" ]; fhir:ElementDefinition.definition [ fhir:value "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained. Usually modifier elements provide negation or qualification. 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. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself)." ]; fhir:ElementDefinition.comment [ fhir:value "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." ]; fhir:ElementDefinition.alias [ fhir:value "extensions"; fhir:index 0 ], [ fhir:value "user content"; fhir:index 1 ], [ fhir:value "modifiers"; fhir:index 2 ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "BackboneElement.modifierExtension" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Extension" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "true" ]; fhir:ElementDefinition.isModifierReason [ fhir:value "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "N/A" ] ] ], [ fhir:index 21; fhir:Element.id [ fhir:value "Sequence.referenceSeq.chromosome" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.chromosome" ]; fhir:ElementDefinition.short [ fhir:value "Chromosome containing genetic finding" ]; fhir:ElementDefinition.definition [ fhir:value "Structural unit composed of a nucleic acid molecule which controls its own replication through the interaction of specific proteins at one or more origins of replication ([SO:0000340](http://www.sequenceontology.org/browser/current_svn/term/SO:0000340))." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.chromosome" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "CodeableConcept" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.binding [ fhir:Element.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName" ]; fhir:Extension.value [ fhir:value "chromosome-human" ] ]; fhir:ElementDefinition.strength [ fhir:value "example" ]; fhir:ElementDefinition.description [ fhir:value "Chromosome number for human." ]; fhir:ElementDefinition.valueSet [ fhir:value "http://hl7.org/fhir/ValueSet/chromosome-human" ] ] ], [ fhir:index 22; fhir:Element.id [ fhir:value "Sequence.referenceSeq.genomeBuild" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.genomeBuild" ]; fhir:ElementDefinition.short [ fhir:value "The Genome Build used for reference, following GRCh build versions e.g. 'GRCh 37'" ]; fhir:ElementDefinition.definition [ fhir:value "The Genome Build used for reference, following GRCh build versions e.g. 'GRCh 37'. Version number must be included if a versioned release of a primary build was used." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.genomeBuild" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 23; fhir:Element.id [ fhir:value "Sequence.referenceSeq.orientation" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.orientation" ]; fhir:ElementDefinition.short [ fhir:value "sense | antisense" ]; fhir:ElementDefinition.definition [ fhir:value "A relative reference to a DNA strand based on gene orientation. The strand that contains the open reading frame of the gene is the \"sense\" strand, and the opposite complementary strand is the \"antisense\" strand." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.orientation" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "code" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.binding [ fhir:Element.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName" ]; fhir:Extension.value [ fhir:value "orientationType" ] ]; fhir:ElementDefinition.strength [ fhir:value "required" ]; fhir:ElementDefinition.description [ fhir:value "Type for orientation." ]; fhir:ElementDefinition.valueSet [ fhir:value "http://hl7.org/fhir/ValueSet/orientation-type" ] ] ], [ fhir:index 24; fhir:Element.id [ fhir:value "Sequence.referenceSeq.referenceSeqId" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.referenceSeqId" ]; fhir:ElementDefinition.short [ fhir:value "Reference identifier" ]; fhir:ElementDefinition.definition [ fhir:value "Reference identifier of reference sequence submitted to NCBI. It must match the type in the Sequence.type field. For example, the prefix, “NG_” identifies reference sequence for genes, “NM_” for messenger RNA transcripts, and “NP_” for amino acid sequences." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.referenceSeqId" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "CodeableConcept" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.binding [ fhir:Element.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName" ]; fhir:Extension.value [ fhir:value "sequenceReference" ] ]; fhir:ElementDefinition.strength [ fhir:value "example" ]; fhir:ElementDefinition.description [ fhir:value "Reference identifier." ]; fhir:ElementDefinition.valueSet [ fhir:value "http://hl7.org/fhir/ValueSet/sequence-referenceSeq" ] ] ], [ fhir:index 25; fhir:Element.id [ fhir:value "Sequence.referenceSeq.referenceSeqPointer" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.referenceSeqPointer" ]; fhir:ElementDefinition.short [ fhir:value "A Pointer to another Sequence entity as reference sequence" ]; fhir:ElementDefinition.definition [ fhir:value "A Pointer to another Sequence entity as reference sequence." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.referenceSeqPointer" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Reference" ]; fhir:ElementDefinition.targetProfile [ fhir:value "http://hl7.org/fhir/StructureDefinition/Sequence"; fhir:index 0 ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 26; fhir:Element.id [ fhir:value "Sequence.referenceSeq.referenceSeqString" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.referenceSeqString" ]; fhir:ElementDefinition.short [ fhir:value "A string to represent reference sequence" ]; fhir:ElementDefinition.definition [ fhir:value "A string like \"ACGT\"." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.referenceSeqString" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 27; fhir:Element.id [ fhir:value "Sequence.referenceSeq.strand" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.strand" ]; fhir:ElementDefinition.short [ fhir:value "watson | crick" ]; fhir:ElementDefinition.definition [ fhir:value "An absolute reference to a strand. The Watson strand is the strand whose 5'-end is on the short arm of the chromosome, and the Crick strand as the one whose 5'-end is on the long arm." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.strand" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "code" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.binding [ fhir:Element.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName" ]; fhir:Extension.value [ fhir:value "strandType" ] ]; fhir:ElementDefinition.strength [ fhir:value "required" ]; fhir:ElementDefinition.description [ fhir:value "Type for strand." ]; fhir:ElementDefinition.valueSet [ fhir:value "http://hl7.org/fhir/ValueSet/strand-type" ] ] ], [ fhir:index 28; fhir:Element.id [ fhir:value "Sequence.referenceSeq.windowStart" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.windowStart" ]; fhir:ElementDefinition.short [ fhir:value "Start position of the window on the reference sequence" ]; fhir:ElementDefinition.definition [ fhir:value "Start position of the window on the reference sequence. If the coordinate system is either 0-based or 1-based, then start position is inclusive." ]; fhir:ElementDefinition.min [ fhir:value "1" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.windowStart" ]; fhir:ElementDefinition.min [ fhir:value "1" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 29; fhir:Element.id [ fhir:value "Sequence.referenceSeq.windowEnd" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.windowEnd" ]; fhir:ElementDefinition.short [ fhir:value "End position of the window on the reference sequence" ]; fhir:ElementDefinition.definition [ fhir:value "End position of the window on the reference sequence. If the coordinate system is 0-based then end is is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position." ]; fhir:ElementDefinition.min [ fhir:value "1" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.windowEnd" ]; fhir:ElementDefinition.min [ fhir:value "1" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 30; fhir:Element.id [ fhir:value "Sequence.variant" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.variant" ]; fhir:ElementDefinition.short [ fhir:value "Variant in sequence" ]; fhir:ElementDefinition.definition [ fhir:value "The definition of variant here originates from Sequence ontology ([variant_of](http://www.sequenceontology.org/browser/current_svn/term/variant_of)). This element can represent amino acid or nucleic sequence change(including insertion,deletion,SNP,etc.) It can represent some complex mutation or segment variation with the assist of CIGAR string." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.variant" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "BackboneElement" ] ]; fhir:ElementDefinition.constraint [ fhir:index 0; fhir:ElementDefinition.key [ fhir:value "ele-1" ]; fhir:ElementDefinition.severity [ fhir:value "error" ]; fhir:ElementDefinition.human [ fhir:value "All FHIR elements must have a @value or children" ]; fhir:ElementDefinition.expression [ fhir:value "hasValue() or (children().count() > id.count())" ]; fhir:ElementDefinition.xpath [ fhir:value "@value|f:*|h:div" ]; fhir:ElementDefinition.source [ fhir:value "Element" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 31; fhir:Element.id [ fhir:value "Sequence.variant.id" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.variant.id" ]; fhir:ElementDefinition.representation [ fhir:value "xmlAttr"; fhir:index 0 ]; fhir:ElementDefinition.short [ fhir:value "xml:id (or equivalent in JSON)" ]; fhir:ElementDefinition.definition [ fhir:value "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Element.id" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "false" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "n/a" ] ] ], [ fhir:index 32; fhir:Element.id [ fhir:value "Sequence.variant.extension" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.variant.extension" ]; fhir:ElementDefinition.short [ fhir:value "Additional content defined by implementations" ]; fhir:ElementDefinition.definition [ fhir:value "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." ]; fhir:ElementDefinition.comment [ fhir:value "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." ]; fhir:ElementDefinition.alias [ fhir:value "extensions"; fhir:index 0 ], [ fhir:value "user content"; fhir:index 1 ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Element.extension" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Extension" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "false" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "n/a" ] ] ], [ fhir:index 33; fhir:Element.id [ fhir:value "Sequence.variant.modifierExtension" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.variant.modifierExtension" ]; fhir:ElementDefinition.short [ fhir:value "Extensions that cannot be ignored if unrecognized" ]; fhir:ElementDefinition.definition [ fhir:value "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained. Usually modifier elements provide negation or qualification. 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. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself)." ]; fhir:ElementDefinition.comment [ fhir:value "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." ]; fhir:ElementDefinition.alias [ fhir:value "extensions"; fhir:index 0 ], [ fhir:value "user content"; fhir:index 1 ], [ fhir:value "modifiers"; fhir:index 2 ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "BackboneElement.modifierExtension" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Extension" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "true" ]; fhir:ElementDefinition.isModifierReason [ fhir:value "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "N/A" ] ] ], [ fhir:index 34; fhir:Element.id [ fhir:value "Sequence.variant.start" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.variant.start" ]; fhir:ElementDefinition.short [ fhir:value "Start position of the variant on the reference sequence" ]; fhir:ElementDefinition.definition [ fhir:value "Start position of the variant on the reference sequence.If the coordinate system is either 0-based or 1-based, then start position is inclusive." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.variant.start" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 35; fhir:Element.id [ fhir:value "Sequence.variant.end" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.variant.end" ]; fhir:ElementDefinition.short [ fhir:value "End position of the variant on the reference sequence" ]; fhir:ElementDefinition.definition [ fhir:value "End position of the variant on the reference sequence.If the coordinate system is 0-based then end is is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.variant.end" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 36; fhir:Element.id [ fhir:value "Sequence.variant.observedAllele" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.variant.observedAllele" ]; fhir:ElementDefinition.short [ fhir:value "Allele that was observed" ]; fhir:ElementDefinition.definition [ fhir:value "An allele is one of a set of coexisting sequence variants of a gene ([SO:0001023](http://www.sequenceontology.org/browser/current_svn/term/SO:0001023)). Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the observed sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand. This will lay in the range between variant.start and variant.end." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.variant.observedAllele" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 37; fhir:Element.id [ fhir:value "Sequence.variant.referenceAllele" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.variant.referenceAllele" ]; fhir:ElementDefinition.short [ fhir:value "Allele in the reference sequence" ]; fhir:ElementDefinition.definition [ fhir:value "An allele is one of a set of coexisting sequence variants of a gene ([SO:0001023](http://www.sequenceontology.org/browser/current_svn/term/SO:0001023)). Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the reference sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand. This will lay in the range between variant.start and variant.end." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.variant.referenceAllele" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 38; fhir:Element.id [ fhir:value "Sequence.variant.cigar" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.variant.cigar" ]; fhir:ElementDefinition.short [ fhir:value "Extended CIGAR string for aligning the sequence with reference bases" ]; fhir:ElementDefinition.definition [ fhir:value "Extended CIGAR string for aligning the sequence with reference bases. See detailed documentation [here](http://support.illumina.com/help/SequencingAnalysisWorkflow/Content/Vault/Informatics/Sequencing_Analysis/CASAVA/swSEQ_mCA_ExtendedCIGARFormat.htm)." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.variant.cigar" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 39; fhir:Element.id [ fhir:value "Sequence.variant.variantPointer" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.variant.variantPointer" ]; fhir:ElementDefinition.short [ fhir:value "Pointer to observed variant information" ]; fhir:ElementDefinition.definition [ fhir:value "A pointer to an Observation containing variant information." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.variant.variantPointer" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Reference" ]; fhir:ElementDefinition.targetProfile [ fhir:value "http://hl7.org/fhir/StructureDefinition/Observation"; fhir:index 0 ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 40; fhir:Element.id [ fhir:value "Sequence.observedSeq" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.observedSeq" ]; fhir:ElementDefinition.short [ fhir:value "Sequence that was observed" ]; fhir:ElementDefinition.definition [ fhir:value "Sequence that was observed. It is the result marked by referenceSeq along with variant records on referenceSeq. This shall starts from referenceSeq.windowStart and end by referenceSeq.windowEnd." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.observedSeq" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 41; fhir:Element.id [ fhir:value "Sequence.quality" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality" ]; fhir:ElementDefinition.short [ fhir:value "An set of value as quality of sequence" ]; fhir:ElementDefinition.definition [ fhir:value "An experimental feature attribute that defines the quality of the feature in a quantitative way, such as a phred quality score ([SO:0001686](http://www.sequenceontology.org/browser/current_svn/term/SO:0001686))." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.quality" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "BackboneElement" ] ]; fhir:ElementDefinition.constraint [ fhir:index 0; fhir:ElementDefinition.key [ fhir:value "ele-1" ]; fhir:ElementDefinition.severity [ fhir:value "error" ]; fhir:ElementDefinition.human [ fhir:value "All FHIR elements must have a @value or children" ]; fhir:ElementDefinition.expression [ fhir:value "hasValue() or (children().count() > id.count())" ]; fhir:ElementDefinition.xpath [ fhir:value "@value|f:*|h:div" ]; fhir:ElementDefinition.source [ fhir:value "Element" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 42; fhir:Element.id [ fhir:value "Sequence.quality.id" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.id" ]; fhir:ElementDefinition.representation [ fhir:value "xmlAttr"; fhir:index 0 ]; fhir:ElementDefinition.short [ fhir:value "xml:id (or equivalent in JSON)" ]; fhir:ElementDefinition.definition [ fhir:value "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Element.id" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "false" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "n/a" ] ] ], [ fhir:index 43; fhir:Element.id [ fhir:value "Sequence.quality.extension" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.extension" ]; fhir:ElementDefinition.short [ fhir:value "Additional content defined by implementations" ]; fhir:ElementDefinition.definition [ fhir:value "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." ]; fhir:ElementDefinition.comment [ fhir:value "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." ]; fhir:ElementDefinition.alias [ fhir:value "extensions"; fhir:index 0 ], [ fhir:value "user content"; fhir:index 1 ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Element.extension" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Extension" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "false" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "n/a" ] ] ], [ fhir:index 44; fhir:Element.id [ fhir:value "Sequence.quality.modifierExtension" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.modifierExtension" ]; fhir:ElementDefinition.short [ fhir:value "Extensions that cannot be ignored if unrecognized" ]; fhir:ElementDefinition.definition [ fhir:value "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained. Usually modifier elements provide negation or qualification. 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. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself)." ]; fhir:ElementDefinition.comment [ fhir:value "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." ]; fhir:ElementDefinition.alias [ fhir:value "extensions"; fhir:index 0 ], [ fhir:value "user content"; fhir:index 1 ], [ fhir:value "modifiers"; fhir:index 2 ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "BackboneElement.modifierExtension" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Extension" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "true" ]; fhir:ElementDefinition.isModifierReason [ fhir:value "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "N/A" ] ] ], [ fhir:index 45; fhir:Element.id [ fhir:value "Sequence.quality.type" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.type" ]; fhir:ElementDefinition.short [ fhir:value "indel | snp | unknown" ]; fhir:ElementDefinition.definition [ fhir:value "INDEL / SNP / Undefined variant." ]; fhir:ElementDefinition.min [ fhir:value "1" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.quality.type" ]; fhir:ElementDefinition.min [ fhir:value "1" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "code" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.binding [ fhir:Element.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName" ]; fhir:Extension.value [ fhir:value "qualityType" ] ]; fhir:ElementDefinition.strength [ fhir:value "required" ]; fhir:ElementDefinition.description [ fhir:value "Type for quality report." ]; fhir:ElementDefinition.valueSet [ fhir:value "http://hl7.org/fhir/ValueSet/quality-type" ] ] ], [ fhir:index 46; fhir:Element.id [ fhir:value "Sequence.quality.standardSequence" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.standardSequence" ]; fhir:ElementDefinition.short [ fhir:value "Standard sequence for comparison" ]; fhir:ElementDefinition.definition [ fhir:value "Gold standard sequence used for comparing against." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.quality.standardSequence" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "CodeableConcept" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.binding [ fhir:Element.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName" ]; fhir:Extension.value [ fhir:value "qualityStandardSequence" ] ]; fhir:ElementDefinition.strength [ fhir:value "example" ]; fhir:ElementDefinition.description [ fhir:value "Reference identifier of the sequence that used to mark the quality of tested samples." ]; fhir:ElementDefinition.valueSet [ fhir:value "http://hl7.org/fhir/ValueSet/sequence-quality-standardSequence" ] ] ], [ fhir:index 47; fhir:Element.id [ fhir:value "Sequence.quality.start" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.start" ]; fhir:ElementDefinition.short [ fhir:value "Start position of the sequence" ]; fhir:ElementDefinition.definition [ fhir:value "Start position of the sequence. If the coordinate system is either 0-based or 1-based, then start position is inclusive." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.quality.start" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 48; fhir:Element.id [ fhir:value "Sequence.quality.end" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.end" ]; fhir:ElementDefinition.short [ fhir:value "End position of the sequence" ]; fhir:ElementDefinition.definition [ fhir:value "End position of the sequence.If the coordinate system is 0-based then end is is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.quality.end" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 49; fhir:Element.id [ fhir:value "Sequence.quality.score" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.score" ]; fhir:ElementDefinition.short [ fhir:value "Quality score for the comparison" ]; fhir:ElementDefinition.definition [ fhir:value "The score of an experimentally derived feature such as a p-value ([SO:0001685](http://www.sequenceontology.org/browser/current_svn/term/SO:0001685))." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.quality.score" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Quantity" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 50; fhir:Element.id [ fhir:value "Sequence.quality.method" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.method" ]; fhir:ElementDefinition.short [ fhir:value "Method to get quality" ]; fhir:ElementDefinition.definition [ fhir:value "Which method is used to get sequence quality." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.quality.method" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "CodeableConcept" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.binding [ fhir:Element.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName" ]; fhir:Extension.value [ fhir:value "qualityMethod" ] ]; fhir:ElementDefinition.strength [ fhir:value "example" ]; fhir:ElementDefinition.description [ fhir:value "The method used to evaluate the numerical quality of the observed sequence." ]; fhir:ElementDefinition.valueSet [ fhir:value "http://hl7.org/fhir/ValueSet/sequence-quality-method" ] ] ], [ fhir:index 51; fhir:Element.id [ fhir:value "Sequence.quality.truthTP" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.truthTP" ]; fhir:ElementDefinition.short [ fhir:value "True positives from the perspective of the truth data" ]; fhir:ElementDefinition.definition [ fhir:value "True positives, from the perspective of the truth data, i.e. the number of sites in the Truth Call Set for which there are paths through the Query Call Set that are consistent with all of the alleles at this site, and for which there is an accurate genotype call for the event." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.quality.truthTP" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "decimal" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 52; fhir:Element.id [ fhir:value "Sequence.quality.queryTP" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.queryTP" ]; fhir:ElementDefinition.short [ fhir:value "True positives from the perspective of the query data" ]; fhir:ElementDefinition.definition [ fhir:value "True positives, from the perspective of the query data, i.e. the number of sites in the Query Call Set for which there are paths through the Truth Call Set that are consistent with all of the alleles at this site, and for which there is an accurate genotype call for the event." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.quality.queryTP" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "decimal" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 53; fhir:Element.id [ fhir:value "Sequence.quality.truthFN" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.truthFN" ]; fhir:ElementDefinition.short [ fhir:value "False negatives" ]; fhir:ElementDefinition.definition [ fhir:value "False negatives, i.e. the number of sites in the Truth Call Set for which there is no path through the Query Call Set that is consistent with all of the alleles at this site, or sites for which there is an inaccurate genotype call for the event. Sites with correct variant but incorrect genotype are counted here." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.quality.truthFN" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "decimal" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 54; fhir:Element.id [ fhir:value "Sequence.quality.queryFP" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.queryFP" ]; fhir:ElementDefinition.short [ fhir:value "False positives" ]; fhir:ElementDefinition.definition [ fhir:value "False positives, i.e. the number of sites in the Query Call Set for which there is no path through the Truth Call Set that is consistent with this site. Sites with correct variant but incorrect genotype are counted here." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.quality.queryFP" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "decimal" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 55; fhir:Element.id [ fhir:value "Sequence.quality.gtFP" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.gtFP" ]; fhir:ElementDefinition.short [ fhir:value "False positives where the non-REF alleles in the Truth and Query Call Sets match" ]; fhir:ElementDefinition.definition [ fhir:value "The number of false positives where the non-REF alleles in the Truth and Query Call Sets match (i.e. cases where the truth is 1/1 and the query is 0/1 or similar)." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.quality.gtFP" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "decimal" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 56; fhir:Element.id [ fhir:value "Sequence.quality.precision" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.precision" ]; fhir:ElementDefinition.short [ fhir:value "Precision of comparison" ]; fhir:ElementDefinition.definition [ fhir:value "QUERY.TP / (QUERY.TP + QUERY.FP)." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.quality.precision" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "decimal" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 57; fhir:Element.id [ fhir:value "Sequence.quality.recall" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.recall" ]; fhir:ElementDefinition.short [ fhir:value "Recall of comparison" ]; fhir:ElementDefinition.definition [ fhir:value "TRUTH.TP / (TRUTH.TP + TRUTH.FN)." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.quality.recall" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "decimal" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 58; fhir:Element.id [ fhir:value "Sequence.quality.fScore" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.fScore" ]; fhir:ElementDefinition.short [ fhir:value "F-score" ]; fhir:ElementDefinition.definition [ fhir:value "Harmonic mean of Recall and Precision, computed as: 2 * precision * recall / (precision + recall)." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.quality.fScore" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "decimal" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 59; fhir:Element.id [ fhir:value "Sequence.quality.roc" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc" ]; fhir:ElementDefinition.short [ fhir:value "Receiver Operator Characteristic (ROC) Curve" ]; fhir:ElementDefinition.definition [ fhir:value "Receiver Operator Characteristic (ROC) Curve to give sensitivity/specificity tradeoff." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "BackboneElement" ] ]; fhir:ElementDefinition.constraint [ fhir:index 0; fhir:ElementDefinition.key [ fhir:value "ele-1" ]; fhir:ElementDefinition.severity [ fhir:value "error" ]; fhir:ElementDefinition.human [ fhir:value "All FHIR elements must have a @value or children" ]; fhir:ElementDefinition.expression [ fhir:value "hasValue() or (children().count() > id.count())" ]; fhir:ElementDefinition.xpath [ fhir:value "@value|f:*|h:div" ]; fhir:ElementDefinition.source [ fhir:value "Element" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 60; fhir:Element.id [ fhir:value "Sequence.quality.roc.id" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc.id" ]; fhir:ElementDefinition.representation [ fhir:value "xmlAttr"; fhir:index 0 ]; fhir:ElementDefinition.short [ fhir:value "xml:id (or equivalent in JSON)" ]; fhir:ElementDefinition.definition [ fhir:value "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Element.id" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "false" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "n/a" ] ] ], [ fhir:index 61; fhir:Element.id [ fhir:value "Sequence.quality.roc.extension" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc.extension" ]; fhir:ElementDefinition.short [ fhir:value "Additional content defined by implementations" ]; fhir:ElementDefinition.definition [ fhir:value "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." ]; fhir:ElementDefinition.comment [ fhir:value "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." ]; fhir:ElementDefinition.alias [ fhir:value "extensions"; fhir:index 0 ], [ fhir:value "user content"; fhir:index 1 ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Element.extension" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Extension" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "false" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "n/a" ] ] ], [ fhir:index 62; fhir:Element.id [ fhir:value "Sequence.quality.roc.modifierExtension" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc.modifierExtension" ]; fhir:ElementDefinition.short [ fhir:value "Extensions that cannot be ignored if unrecognized" ]; fhir:ElementDefinition.definition [ fhir:value "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained. Usually modifier elements provide negation or qualification. 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. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself)." ]; fhir:ElementDefinition.comment [ fhir:value "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." ]; fhir:ElementDefinition.alias [ fhir:value "extensions"; fhir:index 0 ], [ fhir:value "user content"; fhir:index 1 ], [ fhir:value "modifiers"; fhir:index 2 ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "BackboneElement.modifierExtension" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Extension" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "true" ]; fhir:ElementDefinition.isModifierReason [ fhir:value "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "N/A" ] ] ], [ fhir:index 63; fhir:Element.id [ fhir:value "Sequence.quality.roc.score" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc.score" ]; fhir:ElementDefinition.short [ fhir:value "Genotype quality score" ]; fhir:ElementDefinition.definition [ fhir:value "Invidual data point representing the GQ (genotype quality) score threshold." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc.score" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 64; fhir:Element.id [ fhir:value "Sequence.quality.roc.numTP" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc.numTP" ]; fhir:ElementDefinition.short [ fhir:value "Roc score true positive numbers" ]; fhir:ElementDefinition.definition [ fhir:value "The number of true positives if the GQ score threshold was set to \"score\" field value." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc.numTP" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 65; fhir:Element.id [ fhir:value "Sequence.quality.roc.numFP" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc.numFP" ]; fhir:ElementDefinition.short [ fhir:value "Roc score false positive numbers" ]; fhir:ElementDefinition.definition [ fhir:value "The number of false positives if the GQ score threshold was set to \"score\" field value." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc.numFP" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 66; fhir:Element.id [ fhir:value "Sequence.quality.roc.numFN" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc.numFN" ]; fhir:ElementDefinition.short [ fhir:value "Roc score false negative numbers" ]; fhir:ElementDefinition.definition [ fhir:value "The number of false negatives if the GQ score threshold was set to \"score\" field value." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc.numFN" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 67; fhir:Element.id [ fhir:value "Sequence.quality.roc.precision" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc.precision" ]; fhir:ElementDefinition.short [ fhir:value "Precision of the GQ score" ]; fhir:ElementDefinition.definition [ fhir:value "Calculated precision if the GQ score threshold was set to \"score\" field value." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc.precision" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "decimal" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 68; fhir:Element.id [ fhir:value "Sequence.quality.roc.sensitivity" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc.sensitivity" ]; fhir:ElementDefinition.short [ fhir:value "Sensitivity of the GQ score" ]; fhir:ElementDefinition.definition [ fhir:value "Calculated sensitivity if the GQ score threshold was set to \"score\" field value." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc.sensitivity" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "decimal" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 69; fhir:Element.id [ fhir:value "Sequence.quality.roc.fMeasure" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc.fMeasure" ]; fhir:ElementDefinition.short [ fhir:value "FScore of the GQ score" ]; fhir:ElementDefinition.definition [ fhir:value "Calculated fScore if the GQ score threshold was set to \"score\" field value." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc.fMeasure" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "decimal" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 70; fhir:Element.id [ fhir:value "Sequence.readCoverage" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.readCoverage" ]; fhir:ElementDefinition.short [ fhir:value "Average number of reads representing a given nucleotide in the reconstructed sequence" ]; fhir:ElementDefinition.definition [ fhir:value "Coverage (read depth or depth) is the average number of reads representing a given nucleotide in the reconstructed sequence." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.readCoverage" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 71; fhir:Element.id [ fhir:value "Sequence.repository" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.repository" ]; fhir:ElementDefinition.short [ fhir:value "External repository which contains detailed report related with observedSeq in this resource" ]; fhir:ElementDefinition.definition [ fhir:value "Configurations of the external repository. The repository shall store target's observedSeq or records related with target's observedSeq." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.repository" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "BackboneElement" ] ]; fhir:ElementDefinition.constraint [ fhir:index 0; fhir:ElementDefinition.key [ fhir:value "ele-1" ]; fhir:ElementDefinition.severity [ fhir:value "error" ]; fhir:ElementDefinition.human [ fhir:value "All FHIR elements must have a @value or children" ]; fhir:ElementDefinition.expression [ fhir:value "hasValue() or (children().count() > id.count())" ]; fhir:ElementDefinition.xpath [ fhir:value "@value|f:*|h:div" ]; fhir:ElementDefinition.source [ fhir:value "Element" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 72; fhir:Element.id [ fhir:value "Sequence.repository.id" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.repository.id" ]; fhir:ElementDefinition.representation [ fhir:value "xmlAttr"; fhir:index 0 ]; fhir:ElementDefinition.short [ fhir:value "xml:id (or equivalent in JSON)" ]; fhir:ElementDefinition.definition [ fhir:value "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Element.id" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "false" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "n/a" ] ] ], [ fhir:index 73; fhir:Element.id [ fhir:value "Sequence.repository.extension" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.repository.extension" ]; fhir:ElementDefinition.short [ fhir:value "Additional content defined by implementations" ]; fhir:ElementDefinition.definition [ fhir:value "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." ]; fhir:ElementDefinition.comment [ fhir:value "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." ]; fhir:ElementDefinition.alias [ fhir:value "extensions"; fhir:index 0 ], [ fhir:value "user content"; fhir:index 1 ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Element.extension" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Extension" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "false" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "n/a" ] ] ], [ fhir:index 74; fhir:Element.id [ fhir:value "Sequence.repository.modifierExtension" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.repository.modifierExtension" ]; fhir:ElementDefinition.short [ fhir:value "Extensions that cannot be ignored if unrecognized" ]; fhir:ElementDefinition.definition [ fhir:value "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained. Usually modifier elements provide negation or qualification. 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. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself)." ]; fhir:ElementDefinition.comment [ fhir:value "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." ]; fhir:ElementDefinition.alias [ fhir:value "extensions"; fhir:index 0 ], [ fhir:value "user content"; fhir:index 1 ], [ fhir:value "modifiers"; fhir:index 2 ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "BackboneElement.modifierExtension" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Extension" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "true" ]; fhir:ElementDefinition.isModifierReason [ fhir:value "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "N/A" ] ] ], [ fhir:index 75; fhir:Element.id [ fhir:value "Sequence.repository.type" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.repository.type" ]; fhir:ElementDefinition.short [ fhir:value "directlink | openapi | login | oauth | other" ]; fhir:ElementDefinition.definition [ fhir:value "Click and see / RESTful API / Need login to see / RESTful API with authentication / Other ways to see resource." ]; fhir:ElementDefinition.min [ fhir:value "1" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.repository.type" ]; fhir:ElementDefinition.min [ fhir:value "1" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "code" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.binding [ fhir:Element.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName" ]; fhir:Extension.value [ fhir:value "repositoryType" ] ]; fhir:ElementDefinition.strength [ fhir:value "required" ]; fhir:ElementDefinition.description [ fhir:value "Type for access of external URI." ]; fhir:ElementDefinition.valueSet [ fhir:value "http://hl7.org/fhir/ValueSet/repository-type" ] ] ], [ fhir:index 76; fhir:Element.id [ fhir:value "Sequence.repository.url" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.repository.url" ]; fhir:ElementDefinition.short [ fhir:value "URI of the repository" ]; fhir:ElementDefinition.definition [ fhir:value "URI of an external repository which contains further details about the genetics data." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.repository.url" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "uri" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 77; fhir:Element.id [ fhir:value "Sequence.repository.name" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.repository.name" ]; fhir:ElementDefinition.short [ fhir:value "Repository's name" ]; fhir:ElementDefinition.definition [ fhir:value "URI of an external repository which contains further details about the genetics data." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.repository.name" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 78; fhir:Element.id [ fhir:value "Sequence.repository.datasetId" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.repository.datasetId" ]; fhir:ElementDefinition.short [ fhir:value "Id of the dataset that used to call for dataset in repository" ]; fhir:ElementDefinition.definition [ fhir:value "Id of the variant in this external repository. The server will understand how to use this id to call for more info about datasets in external repository." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.repository.datasetId" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 79; fhir:Element.id [ fhir:value "Sequence.repository.variantsetId" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.repository.variantsetId" ]; fhir:ElementDefinition.short [ fhir:value "Id of the variantset that used to call for variantset in repository" ]; fhir:ElementDefinition.definition [ fhir:value "Id of the variantset in this external repository. The server will understand how to use this id to call for more info about variantsets in external repository." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.repository.variantsetId" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 80; fhir:Element.id [ fhir:value "Sequence.repository.readsetId" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.repository.readsetId" ]; fhir:ElementDefinition.short [ fhir:value "Id of the read" ]; fhir:ElementDefinition.definition [ fhir:value "Id of the read in this external repository." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.repository.readsetId" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 81; fhir:Element.id [ fhir:value "Sequence.pointer" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.pointer" ]; fhir:ElementDefinition.short [ fhir:value "Pointer to next atomic sequence" ]; fhir:ElementDefinition.definition [ fhir:value "Pointer to next atomic sequence which at most contains one variant." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.pointer" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Reference" ]; fhir:ElementDefinition.targetProfile [ fhir:value "http://hl7.org/fhir/StructureDefinition/Sequence"; fhir:index 0 ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 82; fhir:Element.id [ fhir:value "Sequence.structureVariant" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant" ]; fhir:ElementDefinition.short [ fhir:value "Structural variant" ]; fhir:ElementDefinition.definition [ fhir:value "Information about chromosome structure variation." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "BackboneElement" ] ]; fhir:ElementDefinition.constraint [ fhir:index 0; fhir:ElementDefinition.key [ fhir:value "ele-1" ]; fhir:ElementDefinition.severity [ fhir:value "error" ]; fhir:ElementDefinition.human [ fhir:value "All FHIR elements must have a @value or children" ]; fhir:ElementDefinition.expression [ fhir:value "hasValue() or (children().count() > id.count())" ]; fhir:ElementDefinition.xpath [ fhir:value "@value|f:*|h:div" ]; fhir:ElementDefinition.source [ fhir:value "Element" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 83; fhir:Element.id [ fhir:value "Sequence.structureVariant.id" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.id" ]; fhir:ElementDefinition.representation [ fhir:value "xmlAttr"; fhir:index 0 ]; fhir:ElementDefinition.short [ fhir:value "xml:id (or equivalent in JSON)" ]; fhir:ElementDefinition.definition [ fhir:value "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Element.id" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "false" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "n/a" ] ] ], [ fhir:index 84; fhir:Element.id [ fhir:value "Sequence.structureVariant.extension" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.extension" ]; fhir:ElementDefinition.short [ fhir:value "Additional content defined by implementations" ]; fhir:ElementDefinition.definition [ fhir:value "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." ]; fhir:ElementDefinition.comment [ fhir:value "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." ]; fhir:ElementDefinition.alias [ fhir:value "extensions"; fhir:index 0 ], [ fhir:value "user content"; fhir:index 1 ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Element.extension" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Extension" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "false" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "n/a" ] ] ], [ fhir:index 85; fhir:Element.id [ fhir:value "Sequence.structureVariant.modifierExtension" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.modifierExtension" ]; fhir:ElementDefinition.short [ fhir:value "Extensions that cannot be ignored if unrecognized" ]; fhir:ElementDefinition.definition [ fhir:value "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained. Usually modifier elements provide negation or qualification. 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. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself)." ]; fhir:ElementDefinition.comment [ fhir:value "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." ]; fhir:ElementDefinition.alias [ fhir:value "extensions"; fhir:index 0 ], [ fhir:value "user content"; fhir:index 1 ], [ fhir:value "modifiers"; fhir:index 2 ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "BackboneElement.modifierExtension" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Extension" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "true" ]; fhir:ElementDefinition.isModifierReason [ fhir:value "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "N/A" ] ] ], [ fhir:index 86; fhir:Element.id [ fhir:value "Sequence.structureVariant.precision" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.precision" ]; fhir:ElementDefinition.short [ fhir:value "Precision of boundaries" ]; fhir:ElementDefinition.definition [ fhir:value "Identify the exact boundaries of variant sequences. Each type of structure variant requires the DNA duplex to be broken and rejoined, and this creates a new sequence of bases at the rejoined sites, known as breakpoints or boundaries." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.precision" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 87; fhir:Element.id [ fhir:value "Sequence.structureVariant.reportedaCGHRatio" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.reportedaCGHRatio" ]; fhir:ElementDefinition.short [ fhir:value "Structural Variant reported aCGH ratio" ]; fhir:ElementDefinition.definition [ fhir:value "Structural Variant reported aCGH ratio." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.reportedaCGHRatio" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "decimal" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 88; fhir:Element.id [ fhir:value "Sequence.structureVariant.length" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.length" ]; fhir:ElementDefinition.short [ fhir:value "Structural Variant Length" ]; fhir:ElementDefinition.definition [ fhir:value "Length of the variant choromosome." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.length" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 89; fhir:Element.id [ fhir:value "Sequence.structureVariant.outer" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.outer" ]; fhir:ElementDefinition.short [ fhir:value "Structural variant outer" ]; fhir:ElementDefinition.definition [ fhir:value "Structural variant outer." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.outer" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "BackboneElement" ] ]; fhir:ElementDefinition.constraint [ fhir:index 0; fhir:ElementDefinition.key [ fhir:value "ele-1" ]; fhir:ElementDefinition.severity [ fhir:value "error" ]; fhir:ElementDefinition.human [ fhir:value "All FHIR elements must have a @value or children" ]; fhir:ElementDefinition.expression [ fhir:value "hasValue() or (children().count() > id.count())" ]; fhir:ElementDefinition.xpath [ fhir:value "@value|f:*|h:div" ]; fhir:ElementDefinition.source [ fhir:value "Element" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 90; fhir:Element.id [ fhir:value "Sequence.structureVariant.outer.id" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.outer.id" ]; fhir:ElementDefinition.representation [ fhir:value "xmlAttr"; fhir:index 0 ]; fhir:ElementDefinition.short [ fhir:value "xml:id (or equivalent in JSON)" ]; fhir:ElementDefinition.definition [ fhir:value "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Element.id" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "false" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "n/a" ] ] ], [ fhir:index 91; fhir:Element.id [ fhir:value "Sequence.structureVariant.outer.extension" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.outer.extension" ]; fhir:ElementDefinition.short [ fhir:value "Additional content defined by implementations" ]; fhir:ElementDefinition.definition [ fhir:value "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." ]; fhir:ElementDefinition.comment [ fhir:value "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." ]; fhir:ElementDefinition.alias [ fhir:value "extensions"; fhir:index 0 ], [ fhir:value "user content"; fhir:index 1 ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Element.extension" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Extension" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "false" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "n/a" ] ] ], [ fhir:index 92; fhir:Element.id [ fhir:value "Sequence.structureVariant.outer.modifierExtension" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.outer.modifierExtension" ]; fhir:ElementDefinition.short [ fhir:value "Extensions that cannot be ignored if unrecognized" ]; fhir:ElementDefinition.definition [ fhir:value "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained. Usually modifier elements provide negation or qualification. 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. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself)." ]; fhir:ElementDefinition.comment [ fhir:value "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." ]; fhir:ElementDefinition.alias [ fhir:value "extensions"; fhir:index 0 ], [ fhir:value "user content"; fhir:index 1 ], [ fhir:value "modifiers"; fhir:index 2 ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "BackboneElement.modifierExtension" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Extension" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "true" ]; fhir:ElementDefinition.isModifierReason [ fhir:value "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "N/A" ] ] ], [ fhir:index 93; fhir:Element.id [ fhir:value "Sequence.structureVariant.outer.start" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.outer.start" ]; fhir:ElementDefinition.short [ fhir:value "Structural Variant Outer Start" ]; fhir:ElementDefinition.definition [ fhir:value "Structural Variant Outer Start.If the coordinate system is either 0-based or 1-based, then start position is inclusive." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.outer.start" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 94; fhir:Element.id [ fhir:value "Sequence.structureVariant.outer.end" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.outer.end" ]; fhir:ElementDefinition.short [ fhir:value "Structural Variant Outer End" ]; fhir:ElementDefinition.definition [ fhir:value "Structural Variant Outer End. If the coordinate system is 0-based then end is is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.outer.end" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 95; fhir:Element.id [ fhir:value "Sequence.structureVariant.inner" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.inner" ]; fhir:ElementDefinition.short [ fhir:value "Structural variant inner" ]; fhir:ElementDefinition.definition [ fhir:value "Structural variant inner." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.inner" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "BackboneElement" ] ]; fhir:ElementDefinition.constraint [ fhir:index 0; fhir:ElementDefinition.key [ fhir:value "ele-1" ]; fhir:ElementDefinition.severity [ fhir:value "error" ]; fhir:ElementDefinition.human [ fhir:value "All FHIR elements must have a @value or children" ]; fhir:ElementDefinition.expression [ fhir:value "hasValue() or (children().count() > id.count())" ]; fhir:ElementDefinition.xpath [ fhir:value "@value|f:*|h:div" ]; fhir:ElementDefinition.source [ fhir:value "Element" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 96; fhir:Element.id [ fhir:value "Sequence.structureVariant.inner.id" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.inner.id" ]; fhir:ElementDefinition.representation [ fhir:value "xmlAttr"; fhir:index 0 ]; fhir:ElementDefinition.short [ fhir:value "xml:id (or equivalent in JSON)" ]; fhir:ElementDefinition.definition [ fhir:value "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Element.id" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "false" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "n/a" ] ] ], [ fhir:index 97; fhir:Element.id [ fhir:value "Sequence.structureVariant.inner.extension" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.inner.extension" ]; fhir:ElementDefinition.short [ fhir:value "Additional content defined by implementations" ]; fhir:ElementDefinition.definition [ fhir:value "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." ]; fhir:ElementDefinition.comment [ fhir:value "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." ]; fhir:ElementDefinition.alias [ fhir:value "extensions"; fhir:index 0 ], [ fhir:value "user content"; fhir:index 1 ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Element.extension" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Extension" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "false" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "n/a" ] ] ], [ fhir:index 98; fhir:Element.id [ fhir:value "Sequence.structureVariant.inner.modifierExtension" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.inner.modifierExtension" ]; fhir:ElementDefinition.short [ fhir:value "Extensions that cannot be ignored if unrecognized" ]; fhir:ElementDefinition.definition [ fhir:value "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained. Usually modifier elements provide negation or qualification. 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. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself)." ]; fhir:ElementDefinition.comment [ fhir:value "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." ]; fhir:ElementDefinition.alias [ fhir:value "extensions"; fhir:index 0 ], [ fhir:value "user content"; fhir:index 1 ], [ fhir:value "modifiers"; fhir:index 2 ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "BackboneElement.modifierExtension" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Extension" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "true" ]; fhir:ElementDefinition.isModifierReason [ fhir:value "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "rim" ]; fhir:ElementDefinition.map [ fhir:value "N/A" ] ] ], [ fhir:index 99; fhir:Element.id [ fhir:value "Sequence.structureVariant.inner.start" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.inner.start" ]; fhir:ElementDefinition.short [ fhir:value "Structural Variant Inner Start" ]; fhir:ElementDefinition.definition [ fhir:value "Structural Variant Inner Start.If the coordinate system is either 0-based or 1-based, then start position is inclusive." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.inner.start" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 100; fhir:Element.id [ fhir:value "Sequence.structureVariant.inner.end" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.inner.end" ]; fhir:ElementDefinition.short [ fhir:value "Structural Variant Inner End" ]; fhir:ElementDefinition.definition [ fhir:value "Structural Variant Inner End. If the coordinate system is 0-based then end is is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.base [ fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.inner.end" ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ] ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isModifier [ fhir:value "false" ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ] ]; fhir:StructureDefinition.differential [ fhir:StructureDefinition.element [ fhir:index 0; fhir:Element.id [ fhir:value "Sequence" ]; fhir:ElementDefinition.path [ fhir:value "Sequence" ]; fhir:ElementDefinition.short [ fhir:value "Information about a biological sequence" ]; fhir:ElementDefinition.definition [ fhir:value "Raw data describing a biological sequence." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.constraint [ fhir:index 0; fhir:ElementDefinition.key [ fhir:value "seq-3" ]; fhir:ElementDefinition.severity [ fhir:value "error" ]; fhir:ElementDefinition.human [ fhir:value "Only 0 and 1 are valid for coordinateSystem" ]; fhir:ElementDefinition.expression [ fhir:value "coordinateSystem = 1 or coordinateSystem = 0" ]; fhir:ElementDefinition.xpath [ fhir:value "count(f:coordinateSystem[@value=0 and @value=1]) = 1" ] ] ], [ fhir:index 1; fhir:Element.id [ fhir:value "Sequence.identifier" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.identifier" ]; fhir:ElementDefinition.short [ fhir:value "Unique ID for this particular sequence. This is a FHIR-defined id" ]; fhir:ElementDefinition.definition [ fhir:value "A unique identifier for this particular sequence instance. This is a FHIR-defined id." ]; fhir:ElementDefinition.requirements [ fhir:value "Allows sequences to be distinguished and referenced." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Identifier" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.mapping [ fhir:index 0; fhir:ElementDefinition.identity [ fhir:value "w5" ]; fhir:ElementDefinition.map [ fhir:value "FiveWs.identifier" ] ] ], [ fhir:index 2; fhir:Element.id [ fhir:value "Sequence.type" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.type" ]; fhir:ElementDefinition.short [ fhir:value "aa | dna | rna" ]; fhir:ElementDefinition.definition [ fhir:value "Amino Acid Sequence/ DNA Sequence / RNA Sequence." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "code" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.binding [ fhir:Element.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName" ]; fhir:Extension.value [ fhir:value "sequenceType" ] ]; fhir:ElementDefinition.strength [ fhir:value "example" ]; fhir:ElementDefinition.description [ fhir:value "Type if a sequence -- DNA, RNA, or amino acid sequence." ]; fhir:ElementDefinition.valueSet [ fhir:value "http://hl7.org/fhir/ValueSet/sequence-type" ] ] ], [ fhir:index 3; fhir:Element.id [ fhir:value "Sequence.coordinateSystem" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.coordinateSystem" ]; fhir:ElementDefinition.short [ fhir:value "Base number of coordinate system (0 for 0-based numbering or coordinates, inclusive start, exclusive end, 1 for 1-based numbering, inclusive start, inclusive end)" ]; fhir:ElementDefinition.definition [ fhir:value "Whether the sequence is numbered starting at 0 (0-based numbering or coordinates, inclusive start, exclusive end) or starting at 1 (1-based numbering, inclusive start and inclusive end)." ]; fhir:ElementDefinition.min [ fhir:value "1" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 4; fhir:Element.id [ fhir:value "Sequence.patient" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.patient" ]; fhir:ElementDefinition.short [ fhir:value "Who and/or what this is about" ]; fhir:ElementDefinition.definition [ fhir:value "The patient whose sequencing results are described by this resource." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Reference" ]; fhir:ElementDefinition.targetProfile [ fhir:value "http://hl7.org/fhir/StructureDefinition/Patient"; fhir:index 0 ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 5; fhir:Element.id [ fhir:value "Sequence.specimen" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.specimen" ]; fhir:ElementDefinition.short [ fhir:value "Specimen used for sequencing" ]; fhir:ElementDefinition.definition [ fhir:value "Specimen used for sequencing." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Reference" ]; fhir:ElementDefinition.targetProfile [ fhir:value "http://hl7.org/fhir/StructureDefinition/Specimen"; fhir:index 0 ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 6; fhir:Element.id [ fhir:value "Sequence.device" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.device" ]; fhir:ElementDefinition.short [ fhir:value "The method for sequencing" ]; fhir:ElementDefinition.definition [ fhir:value "The method for sequencing, for example, chip information." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Reference" ]; fhir:ElementDefinition.targetProfile [ fhir:value "http://hl7.org/fhir/StructureDefinition/Device"; fhir:index 0 ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 7; fhir:Element.id [ fhir:value "Sequence.performer" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.performer" ]; fhir:ElementDefinition.short [ fhir:value "Who should be responsible for test result" ]; fhir:ElementDefinition.definition [ fhir:value "The organization or lab that should be responsible for this result." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Reference" ]; fhir:ElementDefinition.targetProfile [ fhir:value "http://hl7.org/fhir/StructureDefinition/Organization"; fhir:index 0 ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 8; fhir:Element.id [ fhir:value "Sequence.quantity" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quantity" ]; fhir:ElementDefinition.short [ fhir:value "The number of copies of the seqeunce of interest. (RNASeq)" ]; fhir:ElementDefinition.definition [ fhir:value "The number of copies of the seqeunce of interest. (RNASeq)." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Quantity" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 9; fhir:Element.id [ fhir:value "Sequence.referenceSeq" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq" ]; fhir:ElementDefinition.short [ fhir:value "A sequence used as reference" ]; fhir:ElementDefinition.definition [ fhir:value "A sequence that is used as a reference to describe variants that are present in a sequence analyzed." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "BackboneElement" ] ]; fhir:ElementDefinition.constraint [ fhir:index 0; fhir:ElementDefinition.key [ fhir:value "seq-5" ]; fhir:ElementDefinition.severity [ fhir:value "error" ]; fhir:ElementDefinition.human [ fhir:value "GenomeBuild and chromosome must be both contained if either one of them is contained" ]; fhir:ElementDefinition.expression [ fhir:value "(chromosome.empty() and genomeBuild.empty()) or (chromosome.exists() and genomeBuild.exists())" ]; fhir:ElementDefinition.xpath [ fhir:value "(exists(f:chromosome) and exists(f:genomeBuild)) or (not(exists(f:chromosome)) and not(exists(f:genomeBuild)))" ] ], [ fhir:index 1; fhir:ElementDefinition.key [ fhir:value "seq-6" ]; fhir:ElementDefinition.severity [ fhir:value "error" ]; fhir:ElementDefinition.human [ fhir:value "Have and only have one of the following elements in referenceSeq : 1. genomeBuild ; 2 referenceSeqId; 3. referenceSeqPointer; 4. referenceSeqString;" ]; fhir:ElementDefinition.expression [ fhir:value "(genomeBuild.count()+referenceSeqId.count()+ referenceSeqPointer.count()+ referenceSeqString.count()) = 1" ]; fhir:ElementDefinition.xpath [ fhir:value "count(f:genomeBuild)+count(f:referenceSeqId)+count(f:referenceSeqPointer)+count(f:referenceSeqString)=1" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 10; fhir:Element.id [ fhir:value "Sequence.referenceSeq.chromosome" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.chromosome" ]; fhir:ElementDefinition.short [ fhir:value "Chromosome containing genetic finding" ]; fhir:ElementDefinition.definition [ fhir:value "Structural unit composed of a nucleic acid molecule which controls its own replication through the interaction of specific proteins at one or more origins of replication ([SO:0000340](http://www.sequenceontology.org/browser/current_svn/term/SO:0000340))." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "CodeableConcept" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.binding [ fhir:Element.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName" ]; fhir:Extension.value [ fhir:value "chromosome-human" ] ]; fhir:ElementDefinition.strength [ fhir:value "example" ]; fhir:ElementDefinition.description [ fhir:value "Chromosome number for human." ]; fhir:ElementDefinition.valueSet [ fhir:value "http://hl7.org/fhir/ValueSet/chromosome-human" ] ] ], [ fhir:index 11; fhir:Element.id [ fhir:value "Sequence.referenceSeq.genomeBuild" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.genomeBuild" ]; fhir:ElementDefinition.short [ fhir:value "The Genome Build used for reference, following GRCh build versions e.g. 'GRCh 37'" ]; fhir:ElementDefinition.definition [ fhir:value "The Genome Build used for reference, following GRCh build versions e.g. 'GRCh 37'. Version number must be included if a versioned release of a primary build was used." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 12; fhir:Element.id [ fhir:value "Sequence.referenceSeq.orientation" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.orientation" ]; fhir:ElementDefinition.short [ fhir:value "sense | antisense" ]; fhir:ElementDefinition.definition [ fhir:value "A relative reference to a DNA strand based on gene orientation. The strand that contains the open reading frame of the gene is the \"sense\" strand, and the opposite complementary strand is the \"antisense\" strand." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "code" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.binding [ fhir:Element.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName" ]; fhir:Extension.value [ fhir:value "orientationType" ] ]; fhir:ElementDefinition.strength [ fhir:value "required" ]; fhir:ElementDefinition.description [ fhir:value "Type for orientation." ]; fhir:ElementDefinition.valueSet [ fhir:value "http://hl7.org/fhir/ValueSet/orientation-type" ] ] ], [ fhir:index 13; fhir:Element.id [ fhir:value "Sequence.referenceSeq.referenceSeqId" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.referenceSeqId" ]; fhir:ElementDefinition.short [ fhir:value "Reference identifier" ]; fhir:ElementDefinition.definition [ fhir:value "Reference identifier of reference sequence submitted to NCBI. It must match the type in the Sequence.type field. For example, the prefix, “NG_” identifies reference sequence for genes, “NM_” for messenger RNA transcripts, and “NP_” for amino acid sequences." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "CodeableConcept" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.binding [ fhir:Element.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName" ]; fhir:Extension.value [ fhir:value "sequenceReference" ] ]; fhir:ElementDefinition.strength [ fhir:value "example" ]; fhir:ElementDefinition.description [ fhir:value "Reference identifier." ]; fhir:ElementDefinition.valueSet [ fhir:value "http://hl7.org/fhir/ValueSet/sequence-referenceSeq" ] ] ], [ fhir:index 14; fhir:Element.id [ fhir:value "Sequence.referenceSeq.referenceSeqPointer" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.referenceSeqPointer" ]; fhir:ElementDefinition.short [ fhir:value "A Pointer to another Sequence entity as reference sequence" ]; fhir:ElementDefinition.definition [ fhir:value "A Pointer to another Sequence entity as reference sequence." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Reference" ]; fhir:ElementDefinition.targetProfile [ fhir:value "http://hl7.org/fhir/StructureDefinition/Sequence"; fhir:index 0 ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 15; fhir:Element.id [ fhir:value "Sequence.referenceSeq.referenceSeqString" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.referenceSeqString" ]; fhir:ElementDefinition.short [ fhir:value "A string to represent reference sequence" ]; fhir:ElementDefinition.definition [ fhir:value "A string like \"ACGT\"." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 16; fhir:Element.id [ fhir:value "Sequence.referenceSeq.strand" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.strand" ]; fhir:ElementDefinition.short [ fhir:value "watson | crick" ]; fhir:ElementDefinition.definition [ fhir:value "An absolute reference to a strand. The Watson strand is the strand whose 5'-end is on the short arm of the chromosome, and the Crick strand as the one whose 5'-end is on the long arm." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "code" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.binding [ fhir:Element.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName" ]; fhir:Extension.value [ fhir:value "strandType" ] ]; fhir:ElementDefinition.strength [ fhir:value "required" ]; fhir:ElementDefinition.description [ fhir:value "Type for strand." ]; fhir:ElementDefinition.valueSet [ fhir:value "http://hl7.org/fhir/ValueSet/strand-type" ] ] ], [ fhir:index 17; fhir:Element.id [ fhir:value "Sequence.referenceSeq.windowStart" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.windowStart" ]; fhir:ElementDefinition.short [ fhir:value "Start position of the window on the reference sequence" ]; fhir:ElementDefinition.definition [ fhir:value "Start position of the window on the reference sequence. If the coordinate system is either 0-based or 1-based, then start position is inclusive." ]; fhir:ElementDefinition.min [ fhir:value "1" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 18; fhir:Element.id [ fhir:value "Sequence.referenceSeq.windowEnd" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.referenceSeq.windowEnd" ]; fhir:ElementDefinition.short [ fhir:value "End position of the window on the reference sequence" ]; fhir:ElementDefinition.definition [ fhir:value "End position of the window on the reference sequence. If the coordinate system is 0-based then end is is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position." ]; fhir:ElementDefinition.min [ fhir:value "1" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 19; fhir:Element.id [ fhir:value "Sequence.variant" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.variant" ]; fhir:ElementDefinition.short [ fhir:value "Variant in sequence" ]; fhir:ElementDefinition.definition [ fhir:value "The definition of variant here originates from Sequence ontology ([variant_of](http://www.sequenceontology.org/browser/current_svn/term/variant_of)). This element can represent amino acid or nucleic sequence change(including insertion,deletion,SNP,etc.) It can represent some complex mutation or segment variation with the assist of CIGAR string." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "BackboneElement" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 20; fhir:Element.id [ fhir:value "Sequence.variant.start" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.variant.start" ]; fhir:ElementDefinition.short [ fhir:value "Start position of the variant on the reference sequence" ]; fhir:ElementDefinition.definition [ fhir:value "Start position of the variant on the reference sequence.If the coordinate system is either 0-based or 1-based, then start position is inclusive." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 21; fhir:Element.id [ fhir:value "Sequence.variant.end" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.variant.end" ]; fhir:ElementDefinition.short [ fhir:value "End position of the variant on the reference sequence" ]; fhir:ElementDefinition.definition [ fhir:value "End position of the variant on the reference sequence.If the coordinate system is 0-based then end is is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 22; fhir:Element.id [ fhir:value "Sequence.variant.observedAllele" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.variant.observedAllele" ]; fhir:ElementDefinition.short [ fhir:value "Allele that was observed" ]; fhir:ElementDefinition.definition [ fhir:value "An allele is one of a set of coexisting sequence variants of a gene ([SO:0001023](http://www.sequenceontology.org/browser/current_svn/term/SO:0001023)). Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the observed sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand. This will lay in the range between variant.start and variant.end." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 23; fhir:Element.id [ fhir:value "Sequence.variant.referenceAllele" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.variant.referenceAllele" ]; fhir:ElementDefinition.short [ fhir:value "Allele in the reference sequence" ]; fhir:ElementDefinition.definition [ fhir:value "An allele is one of a set of coexisting sequence variants of a gene ([SO:0001023](http://www.sequenceontology.org/browser/current_svn/term/SO:0001023)). Nucleotide(s)/amino acids from start position of sequence to stop position of sequence on the positive (+) strand of the reference sequence. When the sequence type is DNA, it should be the sequence on the positive (+) strand. This will lay in the range between variant.start and variant.end." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 24; fhir:Element.id [ fhir:value "Sequence.variant.cigar" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.variant.cigar" ]; fhir:ElementDefinition.short [ fhir:value "Extended CIGAR string for aligning the sequence with reference bases" ]; fhir:ElementDefinition.definition [ fhir:value "Extended CIGAR string for aligning the sequence with reference bases. See detailed documentation [here](http://support.illumina.com/help/SequencingAnalysisWorkflow/Content/Vault/Informatics/Sequencing_Analysis/CASAVA/swSEQ_mCA_ExtendedCIGARFormat.htm)." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 25; fhir:Element.id [ fhir:value "Sequence.variant.variantPointer" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.variant.variantPointer" ]; fhir:ElementDefinition.short [ fhir:value "Pointer to observed variant information" ]; fhir:ElementDefinition.definition [ fhir:value "A pointer to an Observation containing variant information." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Reference" ]; fhir:ElementDefinition.targetProfile [ fhir:value "http://hl7.org/fhir/StructureDefinition/Observation"; fhir:index 0 ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 26; fhir:Element.id [ fhir:value "Sequence.observedSeq" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.observedSeq" ]; fhir:ElementDefinition.short [ fhir:value "Sequence that was observed" ]; fhir:ElementDefinition.definition [ fhir:value "Sequence that was observed. It is the result marked by referenceSeq along with variant records on referenceSeq. This shall starts from referenceSeq.windowStart and end by referenceSeq.windowEnd." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 27; fhir:Element.id [ fhir:value "Sequence.quality" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality" ]; fhir:ElementDefinition.short [ fhir:value "An set of value as quality of sequence" ]; fhir:ElementDefinition.definition [ fhir:value "An experimental feature attribute that defines the quality of the feature in a quantitative way, such as a phred quality score ([SO:0001686](http://www.sequenceontology.org/browser/current_svn/term/SO:0001686))." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "BackboneElement" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 28; fhir:Element.id [ fhir:value "Sequence.quality.type" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.type" ]; fhir:ElementDefinition.short [ fhir:value "indel | snp | unknown" ]; fhir:ElementDefinition.definition [ fhir:value "INDEL / SNP / Undefined variant." ]; fhir:ElementDefinition.min [ fhir:value "1" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "code" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.binding [ fhir:Element.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName" ]; fhir:Extension.value [ fhir:value "qualityType" ] ]; fhir:ElementDefinition.strength [ fhir:value "required" ]; fhir:ElementDefinition.description [ fhir:value "Type for quality report." ]; fhir:ElementDefinition.valueSet [ fhir:value "http://hl7.org/fhir/ValueSet/quality-type" ] ] ], [ fhir:index 29; fhir:Element.id [ fhir:value "Sequence.quality.standardSequence" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.standardSequence" ]; fhir:ElementDefinition.short [ fhir:value "Standard sequence for comparison" ]; fhir:ElementDefinition.definition [ fhir:value "Gold standard sequence used for comparing against." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "CodeableConcept" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.binding [ fhir:Element.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName" ]; fhir:Extension.value [ fhir:value "qualityStandardSequence" ] ]; fhir:ElementDefinition.strength [ fhir:value "example" ]; fhir:ElementDefinition.description [ fhir:value "Reference identifier of the sequence that used to mark the quality of tested samples." ]; fhir:ElementDefinition.valueSet [ fhir:value "http://hl7.org/fhir/ValueSet/sequence-quality-standardSequence" ] ] ], [ fhir:index 30; fhir:Element.id [ fhir:value "Sequence.quality.start" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.start" ]; fhir:ElementDefinition.short [ fhir:value "Start position of the sequence" ]; fhir:ElementDefinition.definition [ fhir:value "Start position of the sequence. If the coordinate system is either 0-based or 1-based, then start position is inclusive." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 31; fhir:Element.id [ fhir:value "Sequence.quality.end" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.end" ]; fhir:ElementDefinition.short [ fhir:value "End position of the sequence" ]; fhir:ElementDefinition.definition [ fhir:value "End position of the sequence.If the coordinate system is 0-based then end is is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 32; fhir:Element.id [ fhir:value "Sequence.quality.score" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.score" ]; fhir:ElementDefinition.short [ fhir:value "Quality score for the comparison" ]; fhir:ElementDefinition.definition [ fhir:value "The score of an experimentally derived feature such as a p-value ([SO:0001685](http://www.sequenceontology.org/browser/current_svn/term/SO:0001685))." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Quantity" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 33; fhir:Element.id [ fhir:value "Sequence.quality.method" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.method" ]; fhir:ElementDefinition.short [ fhir:value "Method to get quality" ]; fhir:ElementDefinition.definition [ fhir:value "Which method is used to get sequence quality." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "CodeableConcept" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.binding [ fhir:Element.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName" ]; fhir:Extension.value [ fhir:value "qualityMethod" ] ]; fhir:ElementDefinition.strength [ fhir:value "example" ]; fhir:ElementDefinition.description [ fhir:value "The method used to evaluate the numerical quality of the observed sequence." ]; fhir:ElementDefinition.valueSet [ fhir:value "http://hl7.org/fhir/ValueSet/sequence-quality-method" ] ] ], [ fhir:index 34; fhir:Element.id [ fhir:value "Sequence.quality.truthTP" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.truthTP" ]; fhir:ElementDefinition.short [ fhir:value "True positives from the perspective of the truth data" ]; fhir:ElementDefinition.definition [ fhir:value "True positives, from the perspective of the truth data, i.e. the number of sites in the Truth Call Set for which there are paths through the Query Call Set that are consistent with all of the alleles at this site, and for which there is an accurate genotype call for the event." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "decimal" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 35; fhir:Element.id [ fhir:value "Sequence.quality.queryTP" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.queryTP" ]; fhir:ElementDefinition.short [ fhir:value "True positives from the perspective of the query data" ]; fhir:ElementDefinition.definition [ fhir:value "True positives, from the perspective of the query data, i.e. the number of sites in the Query Call Set for which there are paths through the Truth Call Set that are consistent with all of the alleles at this site, and for which there is an accurate genotype call for the event." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "decimal" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 36; fhir:Element.id [ fhir:value "Sequence.quality.truthFN" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.truthFN" ]; fhir:ElementDefinition.short [ fhir:value "False negatives" ]; fhir:ElementDefinition.definition [ fhir:value "False negatives, i.e. the number of sites in the Truth Call Set for which there is no path through the Query Call Set that is consistent with all of the alleles at this site, or sites for which there is an inaccurate genotype call for the event. Sites with correct variant but incorrect genotype are counted here." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "decimal" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 37; fhir:Element.id [ fhir:value "Sequence.quality.queryFP" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.queryFP" ]; fhir:ElementDefinition.short [ fhir:value "False positives" ]; fhir:ElementDefinition.definition [ fhir:value "False positives, i.e. the number of sites in the Query Call Set for which there is no path through the Truth Call Set that is consistent with this site. Sites with correct variant but incorrect genotype are counted here." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "decimal" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 38; fhir:Element.id [ fhir:value "Sequence.quality.gtFP" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.gtFP" ]; fhir:ElementDefinition.short [ fhir:value "False positives where the non-REF alleles in the Truth and Query Call Sets match" ]; fhir:ElementDefinition.definition [ fhir:value "The number of false positives where the non-REF alleles in the Truth and Query Call Sets match (i.e. cases where the truth is 1/1 and the query is 0/1 or similar)." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "decimal" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 39; fhir:Element.id [ fhir:value "Sequence.quality.precision" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.precision" ]; fhir:ElementDefinition.short [ fhir:value "Precision of comparison" ]; fhir:ElementDefinition.definition [ fhir:value "QUERY.TP / (QUERY.TP + QUERY.FP)." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "decimal" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 40; fhir:Element.id [ fhir:value "Sequence.quality.recall" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.recall" ]; fhir:ElementDefinition.short [ fhir:value "Recall of comparison" ]; fhir:ElementDefinition.definition [ fhir:value "TRUTH.TP / (TRUTH.TP + TRUTH.FN)." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "decimal" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 41; fhir:Element.id [ fhir:value "Sequence.quality.fScore" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.fScore" ]; fhir:ElementDefinition.short [ fhir:value "F-score" ]; fhir:ElementDefinition.definition [ fhir:value "Harmonic mean of Recall and Precision, computed as: 2 * precision * recall / (precision + recall)." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "decimal" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 42; fhir:Element.id [ fhir:value "Sequence.quality.roc" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc" ]; fhir:ElementDefinition.short [ fhir:value "Receiver Operator Characteristic (ROC) Curve" ]; fhir:ElementDefinition.definition [ fhir:value "Receiver Operator Characteristic (ROC) Curve to give sensitivity/specificity tradeoff." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "BackboneElement" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 43; fhir:Element.id [ fhir:value "Sequence.quality.roc.score" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc.score" ]; fhir:ElementDefinition.short [ fhir:value "Genotype quality score" ]; fhir:ElementDefinition.definition [ fhir:value "Invidual data point representing the GQ (genotype quality) score threshold." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 44; fhir:Element.id [ fhir:value "Sequence.quality.roc.numTP" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc.numTP" ]; fhir:ElementDefinition.short [ fhir:value "Roc score true positive numbers" ]; fhir:ElementDefinition.definition [ fhir:value "The number of true positives if the GQ score threshold was set to \"score\" field value." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 45; fhir:Element.id [ fhir:value "Sequence.quality.roc.numFP" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc.numFP" ]; fhir:ElementDefinition.short [ fhir:value "Roc score false positive numbers" ]; fhir:ElementDefinition.definition [ fhir:value "The number of false positives if the GQ score threshold was set to \"score\" field value." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 46; fhir:Element.id [ fhir:value "Sequence.quality.roc.numFN" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc.numFN" ]; fhir:ElementDefinition.short [ fhir:value "Roc score false negative numbers" ]; fhir:ElementDefinition.definition [ fhir:value "The number of false negatives if the GQ score threshold was set to \"score\" field value." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 47; fhir:Element.id [ fhir:value "Sequence.quality.roc.precision" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc.precision" ]; fhir:ElementDefinition.short [ fhir:value "Precision of the GQ score" ]; fhir:ElementDefinition.definition [ fhir:value "Calculated precision if the GQ score threshold was set to \"score\" field value." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "decimal" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 48; fhir:Element.id [ fhir:value "Sequence.quality.roc.sensitivity" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc.sensitivity" ]; fhir:ElementDefinition.short [ fhir:value "Sensitivity of the GQ score" ]; fhir:ElementDefinition.definition [ fhir:value "Calculated sensitivity if the GQ score threshold was set to \"score\" field value." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "decimal" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 49; fhir:Element.id [ fhir:value "Sequence.quality.roc.fMeasure" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.quality.roc.fMeasure" ]; fhir:ElementDefinition.short [ fhir:value "FScore of the GQ score" ]; fhir:ElementDefinition.definition [ fhir:value "Calculated fScore if the GQ score threshold was set to \"score\" field value." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "decimal" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 50; fhir:Element.id [ fhir:value "Sequence.readCoverage" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.readCoverage" ]; fhir:ElementDefinition.short [ fhir:value "Average number of reads representing a given nucleotide in the reconstructed sequence" ]; fhir:ElementDefinition.definition [ fhir:value "Coverage (read depth or depth) is the average number of reads representing a given nucleotide in the reconstructed sequence." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 51; fhir:Element.id [ fhir:value "Sequence.repository" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.repository" ]; fhir:ElementDefinition.short [ fhir:value "External repository which contains detailed report related with observedSeq in this resource" ]; fhir:ElementDefinition.definition [ fhir:value "Configurations of the external repository. The repository shall store target's observedSeq or records related with target's observedSeq." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "BackboneElement" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 52; fhir:Element.id [ fhir:value "Sequence.repository.type" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.repository.type" ]; fhir:ElementDefinition.short [ fhir:value "directlink | openapi | login | oauth | other" ]; fhir:ElementDefinition.definition [ fhir:value "Click and see / RESTful API / Need login to see / RESTful API with authentication / Other ways to see resource." ]; fhir:ElementDefinition.min [ fhir:value "1" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "code" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ]; fhir:ElementDefinition.binding [ fhir:Element.extension [ fhir:index 0; fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName" ]; fhir:Extension.value [ fhir:value "repositoryType" ] ]; fhir:ElementDefinition.strength [ fhir:value "required" ]; fhir:ElementDefinition.description [ fhir:value "Type for access of external URI." ]; fhir:ElementDefinition.valueSet [ fhir:value "http://hl7.org/fhir/ValueSet/repository-type" ] ] ], [ fhir:index 53; fhir:Element.id [ fhir:value "Sequence.repository.url" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.repository.url" ]; fhir:ElementDefinition.short [ fhir:value "URI of the repository" ]; fhir:ElementDefinition.definition [ fhir:value "URI of an external repository which contains further details about the genetics data." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "uri" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 54; fhir:Element.id [ fhir:value "Sequence.repository.name" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.repository.name" ]; fhir:ElementDefinition.short [ fhir:value "Repository's name" ]; fhir:ElementDefinition.definition [ fhir:value "URI of an external repository which contains further details about the genetics data." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 55; fhir:Element.id [ fhir:value "Sequence.repository.datasetId" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.repository.datasetId" ]; fhir:ElementDefinition.short [ fhir:value "Id of the dataset that used to call for dataset in repository" ]; fhir:ElementDefinition.definition [ fhir:value "Id of the variant in this external repository. The server will understand how to use this id to call for more info about datasets in external repository." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 56; fhir:Element.id [ fhir:value "Sequence.repository.variantsetId" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.repository.variantsetId" ]; fhir:ElementDefinition.short [ fhir:value "Id of the variantset that used to call for variantset in repository" ]; fhir:ElementDefinition.definition [ fhir:value "Id of the variantset in this external repository. The server will understand how to use this id to call for more info about variantsets in external repository." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 57; fhir:Element.id [ fhir:value "Sequence.repository.readsetId" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.repository.readsetId" ]; fhir:ElementDefinition.short [ fhir:value "Id of the read" ]; fhir:ElementDefinition.definition [ fhir:value "Id of the read in this external repository." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 58; fhir:Element.id [ fhir:value "Sequence.pointer" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.pointer" ]; fhir:ElementDefinition.short [ fhir:value "Pointer to next atomic sequence" ]; fhir:ElementDefinition.definition [ fhir:value "Pointer to next atomic sequence which at most contains one variant." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "Reference" ]; fhir:ElementDefinition.targetProfile [ fhir:value "http://hl7.org/fhir/StructureDefinition/Sequence"; fhir:index 0 ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 59; fhir:Element.id [ fhir:value "Sequence.structureVariant" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant" ]; fhir:ElementDefinition.short [ fhir:value "Structural variant" ]; fhir:ElementDefinition.definition [ fhir:value "Information about chromosome structure variation." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "*" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "BackboneElement" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 60; fhir:Element.id [ fhir:value "Sequence.structureVariant.precision" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.precision" ]; fhir:ElementDefinition.short [ fhir:value "Precision of boundaries" ]; fhir:ElementDefinition.definition [ fhir:value "Identify the exact boundaries of variant sequences. Each type of structure variant requires the DNA duplex to be broken and rejoined, and this creates a new sequence of bases at the rejoined sites, known as breakpoints or boundaries." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "string" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 61; fhir:Element.id [ fhir:value "Sequence.structureVariant.reportedaCGHRatio" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.reportedaCGHRatio" ]; fhir:ElementDefinition.short [ fhir:value "Structural Variant reported aCGH ratio" ]; fhir:ElementDefinition.definition [ fhir:value "Structural Variant reported aCGH ratio." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "decimal" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 62; fhir:Element.id [ fhir:value "Sequence.structureVariant.length" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.length" ]; fhir:ElementDefinition.short [ fhir:value "Structural Variant Length" ]; fhir:ElementDefinition.definition [ fhir:value "Length of the variant choromosome." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 63; fhir:Element.id [ fhir:value "Sequence.structureVariant.outer" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.outer" ]; fhir:ElementDefinition.short [ fhir:value "Structural variant outer" ]; fhir:ElementDefinition.definition [ fhir:value "Structural variant outer." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "BackboneElement" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 64; fhir:Element.id [ fhir:value "Sequence.structureVariant.outer.start" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.outer.start" ]; fhir:ElementDefinition.short [ fhir:value "Structural Variant Outer Start" ]; fhir:ElementDefinition.definition [ fhir:value "Structural Variant Outer Start.If the coordinate system is either 0-based or 1-based, then start position is inclusive." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 65; fhir:Element.id [ fhir:value "Sequence.structureVariant.outer.end" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.outer.end" ]; fhir:ElementDefinition.short [ fhir:value "Structural Variant Outer End" ]; fhir:ElementDefinition.definition [ fhir:value "Structural Variant Outer End. If the coordinate system is 0-based then end is is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 66; fhir:Element.id [ fhir:value "Sequence.structureVariant.inner" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.inner" ]; fhir:ElementDefinition.short [ fhir:value "Structural variant inner" ]; fhir:ElementDefinition.definition [ fhir:value "Structural variant inner." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "BackboneElement" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 67; fhir:Element.id [ fhir:value "Sequence.structureVariant.inner.start" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.inner.start" ]; fhir:ElementDefinition.short [ fhir:value "Structural Variant Inner Start" ]; fhir:ElementDefinition.definition [ fhir:value "Structural Variant Inner Start.If the coordinate system is either 0-based or 1-based, then start position is inclusive." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ], [ fhir:index 68; fhir:Element.id [ fhir:value "Sequence.structureVariant.inner.end" ]; fhir:ElementDefinition.path [ fhir:value "Sequence.structureVariant.inner.end" ]; fhir:ElementDefinition.short [ fhir:value "Structural Variant Inner End" ]; fhir:ElementDefinition.definition [ fhir:value "Structural Variant Inner End. If the coordinate system is 0-based then end is is exclusive and does not include the last position. If the coordinate system is 1-base, then end is inclusive and includes the last position." ]; fhir:ElementDefinition.min [ fhir:value "0" ]; fhir:ElementDefinition.max [ fhir:value "1" ]; fhir:ElementDefinition.type [ fhir:index 0; fhir:ElementDefinition.code [ fhir:value "integer" ] ]; fhir:ElementDefinition.isSummary [ fhir:value "true" ] ] ] . # -------------------------------------------------------------------------------------
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.