FHIR IG analytics| Package | hl7.fhir.uv.genomics-reporting.r4 |
| Resource Type | StructureDefinition |
| Id | StructureDefinition-genomic-study-analysis-metrics.json |
| FHIR Version | R4 |
No resources found
No resources found
Note: links and images are rebased to the (stated) source
Generated Narrative: StructureDefinition genomic-study-analysis-metrics
| Name | Flags | Card. | Type | Description & Constraints |
|---|---|---|---|---|
![]() | 0..* | Extension | Genomic Study Analysis Metrics | |
![]() ![]() | Content/Rules for all slices | |||
![]() ![]() ![]() | 0..1 | Extension | Read Depth | |
![]() ![]() ![]() ![]() | 0..0 | |||
![]() ![]() ![]() ![]() | 1..1 | uri | "read-depth" | |
![]() ![]() ![]() ![]() | 0..1 | SimpleQuantity | 30, 100 | |
![]() ![]() ![]() | 0..1 | Extension | Sequencing Coverage | |
![]() ![]() ![]() ![]() | 0..0 | |||
![]() ![]() ![]() ![]() | 1..1 | uri | "sequencing-coverage" | |
![]() ![]() ![]() ![]() | 0..1 | SimpleQuantity | 95, 100 | |
![]() ![]() ![]() | 0..1 | Extension | Metrics Description | |
![]() ![]() ![]() ![]() | 0..0 | |||
![]() ![]() ![]() ![]() | 1..1 | uri | "metrics-description" | |
![]() ![]() ![]() ![]() | 0..1 | string | Value of extension | |
![]() ![]() | 1..1 | uri | "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-metrics" | |
![]() ![]() | 0..0 | |||
{
"resourceType": "StructureDefinition",
"id": "genomic-study-analysis-metrics",
"text": {
"status": "extensions",
"div": "<!-- snip (see above) -->"
},
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
"valueCode": "cg"
}
],
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-metrics",
"version": "3.0.0",
"name": "GenomicStudyAnalysisMetrics",
"title": "Genomic Study Analysis Metrics",
"status": "active",
"date": "2024-12-12T21:16:09+00:00",
"publisher": "HL7 International / Clinical Genomics",
"contact": [
{
"name": "HL7 International / Clinical Genomics",
"telecom": [
{
"system": "url",
"value": "http://www.hl7.org/Special/committees/clingenomics"
},
{
"system": "email",
"value": "cg@lists.HL7.org"
}
]
}
],
"description": "Metrics about the sequencing analysis that was performed",
"jurisdiction": [
{
"coding": [
{
"system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
"code": "001",
"display": "World"
}
]
}
],
"fhirVersion": "4.0.1",
"mapping": [
{
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"abstract": false,
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{
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"expression": "Procedure"
}
],
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"snapshot": {
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{
"id": "Extension",
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{
"id": "Extension.id",
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"min": 0,
"max": "1",
"base": {
"path": "Element.id",
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{
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{
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{
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{
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{
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],
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"rules": "open"
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"short": "Additional content defined by implementations",
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"comment": "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias": [
"extensions",
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"max": "*",
"base": {
"path": "Element.extension",
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"max": "*"
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"type": [
{
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{
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{
"key": "ext-1",
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{
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"source": "http://hl7.org/fhir/StructureDefinition/Extension"
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"base": {
"path": "Element.id",
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{
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{
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{
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{
"type": "value",
"path": "url"
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],
"description": "Extensions are always sliced by (at least) url",
"rules": "open"
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"max": "*"
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{
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{
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},
{
"id": "Extension.extension:read-depth.value[x]",
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"expression": "code.empty() or system.exists()",
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"source": "http://hl7.org/fhir/StructureDefinition/Quantity"
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{
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{
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},
{
"id": "Extension.extension:sequencing-coverage",
"path": "Extension.extension",
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"requirements": "This value is typically represented with an '%' after the number (95%). Simply share the quantity here.",
"min": 0,
"max": "1",
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},
{
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],
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{
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{
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"path": "url"
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],
"description": "Extensions are always sliced by (at least) url",
"rules": "open"
},
"short": "Extension",
"definition": "An Extension",
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"base": {
"path": "Element.extension",
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"max": "*"
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"type": [
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},
{
"key": "ext-1",
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"expression": "extension.exists() != value.exists()",
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"source": "http://hl7.org/fhir/StructureDefinition/Extension"
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],
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},
{
"id": "Extension.extension:sequencing-coverage.url",
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],
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]
},
{
"id": "Extension.extension:sequencing-coverage.value[x]",
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{
"key": "sqty-1",
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{
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"map": "PQ, IVL<PQ>, MO, CO, depending on the values"
}
]
},
{
"id": "Extension.extension:metrics-description",
"path": "Extension.extension",
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"base": {
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"source": "http://hl7.org/fhir/StructureDefinition/Element"
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{
"key": "ext-1",
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"xpath": "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
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],
"isModifier": false,
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},
{
"id": "Extension.extension:metrics-description.url",
"path": "Extension.extension.url",
"representation": [
"xmlAttr"
],
"short": "identifies the meaning of the extension",
"definition": "Source of the definition for the extension code - a logical name or a URL.",
"comment": "The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.",
"min": 1,
"max": "1",
"base": {
"path": "Extension.url",
"min": 1,
"max": "1"
},
"type": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl": "uri"
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],
"code": "http://hl7.org/fhirpath/System.String"
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],
"fixedUri": "metrics-description",
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "N/A"
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]
},
{
"id": "Extension.extension:metrics-description.value[x]",
"path": "Extension.extension.value[x]",
"short": "Value of extension",
"definition": "Value of extension - must be one of a constrained set of the data types (see [Extensibility](http://hl7.org/fhir/R4/extensibility.html) for a list).",
"min": 0,
"max": "1",
"base": {
"path": "Extension.value[x]",
"min": 0,
"max": "1"
},
"type": [
{
"code": "string"
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],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "Extension.url",
"path": "Extension.url",
"representation": [
"xmlAttr"
],
"short": "identifies the meaning of the extension",
"definition": "Source of the definition for the extension code - a logical name or a URL.",
"comment": "The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.",
"min": 1,
"max": "1",
"base": {
"path": "Extension.url",
"min": 1,
"max": "1"
},
"type": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl": "uri"
}
],
"code": "http://hl7.org/fhirpath/System.String"
}
],
"fixedUri": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-metrics",
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "Extension.value[x]",
"path": "Extension.value[x]",
"short": "Value of extension",
"definition": "Value of extension - must be one of a constrained set of the data types (see [Extensibility](http://hl7.org/fhir/R4/extensibility.html) for a list).",
"min": 0,
"max": "0",
"base": {
"path": "Extension.value[x]",
"min": 0,
"max": "1"
},
"type": [
{
"code": "base64Binary"
},
{
"code": "boolean"
},
{
"code": "canonical"
},
{
"code": "code"
},
{
"code": "date"
},
{
"code": "dateTime"
},
{
"code": "decimal"
},
{
"code": "id"
},
{
"code": "instant"
},
{
"code": "integer"
},
{
"code": "markdown"
},
{
"code": "oid"
},
{
"code": "positiveInt"
},
{
"code": "string"
},
{
"code": "time"
},
{
"code": "unsignedInt"
},
{
"code": "uri"
},
{
"code": "url"
},
{
"code": "uuid"
},
{
"code": "Address"
},
{
"code": "Age"
},
{
"code": "Annotation"
},
{
"code": "Attachment"
},
{
"code": "CodeableConcept"
},
{
"code": "Coding"
},
{
"code": "ContactPoint"
},
{
"code": "Count"
},
{
"code": "Distance"
},
{
"code": "Duration"
},
{
"code": "HumanName"
},
{
"code": "Identifier"
},
{
"code": "Money"
},
{
"code": "Period"
},
{
"code": "Quantity"
},
{
"code": "Range"
},
{
"code": "Ratio"
},
{
"code": "Reference"
},
{
"code": "SampledData"
},
{
"code": "Signature"
},
{
"code": "Timing"
},
{
"code": "ContactDetail"
},
{
"code": "Contributor"
},
{
"code": "DataRequirement"
},
{
"code": "Expression"
},
{
"code": "ParameterDefinition"
},
{
"code": "RelatedArtifact"
},
{
"code": "TriggerDefinition"
},
{
"code": "UsageContext"
},
{
"code": "Dosage"
},
{
"code": "Meta"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
}
]
},
"differential": {
"element": [
{
"id": "Extension",
"path": "Extension",
"short": "Genomic Study Analysis Metrics",
"definition": "Metrics about the sequencing analysis that was performed"
},
{
"id": "Extension.extension:read-depth",
"path": "Extension.extension",
"sliceName": "read-depth",
"short": "Read Depth",
"definition": "The average read depth (number of reads for a position) for the sequencing test",
"requirements": "This value is typically represented with an 'x' after the number (30x). Simply share the quantity here.",
"min": 0,
"max": "1"
},
{
"id": "Extension.extension:read-depth.extension",
"path": "Extension.extension.extension",
"max": "0"
},
{
"id": "Extension.extension:read-depth.url",
"path": "Extension.extension.url",
"fixedUri": "read-depth"
},
{
"id": "Extension.extension:read-depth.value[x]",
"path": "Extension.extension.value[x]",
"short": "30, 100",
"type": [
{
"code": "Quantity",
"profile": [
"http://hl7.org/fhir/StructureDefinition/SimpleQuantity"
]
}
]
},
{
"id": "Extension.extension:sequencing-coverage",
"path": "Extension.extension",
"sliceName": "sequencing-coverage",
"short": "Sequencing Coverage",
"definition": "The percentage of the studied regions that were sequenced",
"requirements": "This value is typically represented with an '%' after the number (95%). Simply share the quantity here.",
"min": 0,
"max": "1"
},
{
"id": "Extension.extension:sequencing-coverage.extension",
"path": "Extension.extension.extension",
"max": "0"
},
{
"id": "Extension.extension:sequencing-coverage.url",
"path": "Extension.extension.url",
"fixedUri": "sequencing-coverage"
},
{
"id": "Extension.extension:sequencing-coverage.value[x]",
"path": "Extension.extension.value[x]",
"short": "95, 100",
"type": [
{
"code": "Quantity",
"profile": [
"http://hl7.org/fhir/StructureDefinition/SimpleQuantity"
]
}
]
},
{
"id": "Extension.extension:metrics-description",
"path": "Extension.extension",
"sliceName": "metrics-description",
"short": "Metrics Description",
"definition": "Freetext description of the coverage metrics for the sequencing test",
"min": 0,
"max": "1"
},
{
"id": "Extension.extension:metrics-description.extension",
"path": "Extension.extension.extension",
"max": "0"
},
{
"id": "Extension.extension:metrics-description.url",
"path": "Extension.extension.url",
"fixedUri": "metrics-description"
},
{
"id": "Extension.extension:metrics-description.value[x]",
"path": "Extension.extension.value[x]",
"type": [
{
"code": "string"
}
]
},
{
"id": "Extension.url",
"path": "Extension.url",
"fixedUri": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-metrics"
},
{
"id": "Extension.value[x]",
"path": "Extension.value[x]",
"max": "0"
}
]
}
}