Resource StructureDefinition/FHIR Server from package de.medizininformatikinitiative.kerndatensatz.mtb#2025.0.0-ballot-alpha.1 (78 ms)
Resources that use this resource
Resources that this resource uses
Source
{
"resourceType" : "StructureDefinition",
"id" : "mii-pr-mtb-copy-number-variant",
"url" : "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-copy-number-variant",
"version" : "2024.0.0-ballot",
"name" : "MII_PR_MTB_Copy_Number_Variant",
"title" : "MII PR MTB Copy Number Variant",
"status" : "draft",
"publisher" : "Medizininformatik Initiative",
"contact" : [
{
"telecom" : [
{
"system" : "url",
"value" : "https://www.medizininformatik-initiative.de"
}
]
}
],
"description" : "Copy Number Variant (CNV)",
"fhirVersion" : "4.0.1",
"kind" : "resource",
"abstract" : false,
"type" : "Observation",
"baseDefinition" : "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante",
"derivation" : "constraint",
"differential" : {
"element" : [
{
"id" : "Observation.meta",
"path" : "Observation.meta",
"mustSupport" : true
},
{
"id" : "Observation.component:gene-studied",
"path" : "Observation.component",
"sliceName" : "gene-studied",
"short" : "Reported affected genes",
"definition" : "Reported affected genes"
},
{
"id" : "Observation.component:gene-studied.code",
"path" : "Observation.component.code",
"mustSupport" : true
},
{
"id" : "Observation.component:gene-studied.value[x]",
"path" : "Observation.component.value[x]",
"mustSupport" : true
},
{
"id" : "Observation.component:exact-start-end",
"path" : "Observation.component",
"sliceName" : "exact-start-end",
"short" : "Positionsbereich",
"definition" : "Positionsbereich der genetischen Variante."
},
{
"id" : "Observation.component:exact-start-end.code",
"path" : "Observation.component.code",
"mustSupport" : true
},
{
"id" : "Observation.component:exact-start-end.value[x]",
"path" : "Observation.component.value[x]",
"mustSupport" : true
},
{
"id" : "Observation.component:chromosome-identifier",
"path" : "Observation.component",
"sliceName" : "chromosome-identifier",
"definition" : "Chromosome auf dem sich die Variante befindet (chr1 - chr22, chrX, chrY)."
},
{
"id" : "Observation.component:copy-number",
"path" : "Observation.component",
"sliceName" : "copy-number",
"short" : "Total Copy Number",
"definition" : "Total Copy Number"
},
{
"id" : "Observation.component:copy-number.code",
"path" : "Observation.component.code",
"mustSupport" : true
},
{
"id" : "Observation.component:copy-number.value[x]",
"path" : "Observation.component.value[x]",
"mustSupport" : true
},
{
"id" : "Observation.component:relative-copy-number",
"path" : "Observation.component",
"sliceName" : "relative-copy-number",
"short" : "Relative Copy Number",
"definition" : "Relative Copy Number",
"min" : 0,
"max" : "*",
"mustSupport" : true
},
{
"id" : "Observation.component:relative-copy-number.code",
"path" : "Observation.component.code",
"mustSupport" : true
},
{
"id" : "Observation.component:relative-copy-number.value[x]",
"path" : "Observation.component.value[x]",
"slicing" : {
"discriminator" : [
{
"type" : "type",
"path" : "$this"
}
],
"ordered" : false,
"rules" : "open"
}
},
{
"id" : "Observation.component:relative-copy-number.value[x]:valueQuantity",
"path" : "Observation.component.value[x]",
"sliceName" : "valueQuantity",
"min" : 0,
"max" : "1",
"type" : [
{
"code" : "Quantity"
}
],
"mustSupport" : true
},
{
"id" : "Observation.component:cna",
"path" : "Observation.component",
"sliceName" : "cna",
"short" : "CNA",
"definition" : "Copy Number Allel A",
"min" : 0,
"max" : "*",
"mustSupport" : true
},
{
"id" : "Observation.component:cna.code",
"path" : "Observation.component.code",
"mustSupport" : true
},
{
"id" : "Observation.component:cna.value[x]",
"path" : "Observation.component.value[x]",
"slicing" : {
"discriminator" : [
{
"type" : "type",
"path" : "$this"
}
],
"ordered" : false,
"rules" : "open"
}
},
{
"id" : "Observation.component:cna.value[x]:valueQuantity",
"path" : "Observation.component.value[x]",
"sliceName" : "valueQuantity",
"min" : 0,
"max" : "1",
"type" : [
{
"code" : "Quantity"
}
],
"mustSupport" : true
},
{
"id" : "Observation.component:cnb",
"path" : "Observation.component",
"sliceName" : "cnb",
"short" : "CNB",
"definition" : "Copy Number Allel B",
"min" : 0,
"max" : "*",
"mustSupport" : true
},
{
"id" : "Observation.component:cnb.code",
"path" : "Observation.component.code",
"mustSupport" : true
},
{
"id" : "Observation.component:cnb.value[x]",
"path" : "Observation.component.value[x]",
"slicing" : {
"discriminator" : [
{
"type" : "type",
"path" : "$this"
}
],
"ordered" : false,
"rules" : "open"
}
},
{
"id" : "Observation.component:cnb.value[x]:valueQuantity",
"path" : "Observation.component.value[x]",
"sliceName" : "valueQuantity",
"min" : 0,
"max" : "1",
"type" : [
{
"code" : "Quantity"
}
],
"mustSupport" : true
},
{
"id" : "Observation.component:reported-focality",
"path" : "Observation.component",
"sliceName" : "reported-focality",
"short" : "Reported focality",
"definition" : "Reported focality",
"min" : 0,
"max" : "*",
"mustSupport" : true
},
{
"id" : "Observation.component:reported-focality.code",
"path" : "Observation.component.code",
"mustSupport" : true
},
{
"id" : "Observation.component:reported-focality.value[x]",
"path" : "Observation.component.value[x]",
"slicing" : {
"discriminator" : [
{
"type" : "type",
"path" : "$this"
}
],
"ordered" : false,
"rules" : "open"
}
},
{
"id" : "Observation.component:reported-focality.value[x]:valueQuantity",
"path" : "Observation.component.value[x]",
"sliceName" : "valueQuantity",
"min" : 0,
"max" : "1",
"type" : [
{
"code" : "Quantity"
}
],
"mustSupport" : true
},
{
"id" : "Observation.component:cnv-type",
"path" : "Observation.component",
"sliceName" : "cnv-type",
"short" : "CNV Type",
"definition" : "Copy Number Variant Type",
"min" : 0,
"max" : "*",
"mustSupport" : true
},
{
"id" : "Observation.component:cnv-type.code",
"path" : "Observation.component.code",
"patternCodeableConcept" : {
"coding" : [
{
"code" : "type",
"system" : "http://bwhc.de/mtb/genetics-copy-number-variant"
}
]
}
},
{
"id" : "Observation.component:cnv-type.value[x]",
"path" : "Observation.component.value[x]",
"slicing" : {
"discriminator" : [
{
"type" : "type",
"path" : "$this"
}
],
"ordered" : false,
"rules" : "open"
}
},
{
"id" : "Observation.component:cnv-type.value[x]:valueCodeableConcept",
"path" : "Observation.component.value[x]",
"sliceName" : "valueCodeableConcept",
"min" : 0,
"max" : "1",
"type" : [
{
"code" : "CodeableConcept"
}
],
"mustSupport" : true
},
{
"id" : "Observation.component:copy-number-neutral-loh",
"path" : "Observation.component",
"sliceName" : "copy-number-neutral-loh",
"short" : "Copy number neutral LoH",
"definition" : "Copy number neutral Loss of heterozygosity",
"min" : 0,
"max" : "*",
"mustSupport" : true
},
{
"id" : "Observation.component:copy-number-neutral-loh.code",
"path" : "Observation.component.code",
"mustSupport" : true
},
{
"id" : "Observation.component:copy-number-neutral-loh.value[x]",
"path" : "Observation.component.value[x]",
"slicing" : {
"discriminator" : [
{
"type" : "type",
"path" : "$this"
}
],
"ordered" : false,
"rules" : "open"
}
},
{
"id" : "Observation.component:copy-number-neutral-loh.value[x]:valueCodeableConcept",
"path" : "Observation.component.value[x]",
"sliceName" : "valueCodeableConcept",
"min" : 0,
"max" : "1",
"type" : [
{
"code" : "CodeableConcept"
}
],
"mustSupport" : true
}
]
},
"text" : {
}
}
XIG built as of ??metadata-date??. Found ??metadata-resources?? resources in ??metadata-packages?? packages.
FHIR