Resource StructureDefinition/FHIR Server from package de.medizininformatikinitiative.kerndatensatz.molgen#1.0.0 (172 ms)
Resources that use this resource
Resources that this resource uses
Source
{
"resourceType" : "StructureDefinition",
"id" : "mii-pr-molgen-variante",
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-category",
"valueString" : "Clinical.Diagnostics"
},
{
"url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-security-category",
"valueCode" : "patient"
}
],
"url" : "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante",
"version" : "1.0.0",
"name" : "MII_PR_MolGen_Variante",
"title" : "MII PR MolGen Variante",
"status" : "active",
"publisher" : "Medizininformatik Initiative",
"contact" : [
{
"telecom" : [
{
"system" : "url",
"value" : "https://www.medizininformatik-initiative.de"
}
]
}
],
"description" : "Dieses Profil ermöglicht eine vollständige Beschreibung der gefundenen Variante unter Verwendung von Eigenschaften aus einer Vielzahl von Testmethoden.",
"fhirVersion" : "4.0.1",
"mapping" : [
{
"identity" : "workflow",
"uri" : "http://hl7.org/fhir/workflow",
"name" : "Workflow Pattern"
},
{
"identity" : "sct-concept",
"uri" : "http://snomed.info/conceptdomain",
"name" : "SNOMED CT Concept Domain Binding"
},
{
"identity" : "v2",
"uri" : "http://hl7.org/v2",
"name" : "HL7 v2 Mapping"
},
{
"identity" : "rim",
"uri" : "http://hl7.org/v3",
"name" : "RIM Mapping"
},
{
"identity" : "w5",
"uri" : "http://hl7.org/fhir/fivews",
"name" : "FiveWs Pattern Mapping"
},
{
"identity" : "sct-attr",
"uri" : "http://snomed.org/attributebinding",
"name" : "SNOMED CT Attribute Binding"
},
{
"identity" : "MII-KDS",
"name" : "MII KDS Mapping"
}
],
"kind" : "resource",
"abstract" : false,
"type" : "Observation",
"baseDefinition" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant",
"derivation" : "constraint",
"differential" : {
"element" : [
{
"id" : "Observation.status",
"path" : "Observation.status",
"mustSupport" : true
},
{
"id" : "Observation.category",
"path" : "Observation.category",
"mustSupport" : true
},
{
"id" : "Observation.code",
"path" : "Observation.code",
"mustSupport" : true
},
{
"id" : "Observation.subject",
"path" : "Observation.subject",
"min" : 1,
"type" : [
{
"code" : "Reference",
"profile" : [
"https://www.medizininformatik-initiative.de/fhir/core/StructureDefinition/MII-Reference"
],
"targetProfile" : [
"http://hl7.org/fhir/StructureDefinition/Patient",
"http://hl7.org/fhir/StructureDefinition/Group"
]
}
],
"mustSupport" : true
},
{
"id" : "Observation.value[x]",
"path" : "Observation.value[x]",
"mustSupport" : true
},
{
"id" : "Observation.method",
"path" : "Observation.method",
"mustSupport" : true
},
{
"id" : "Observation.specimen",
"path" : "Observation.specimen",
"mustSupport" : true
},
{
"id" : "Observation.device",
"path" : "Observation.device",
"mustSupport" : true
},
{
"id" : "Observation.component:conclusion-string",
"path" : "Observation.component",
"sliceName" : "conclusion-string",
"mustSupport" : true
},
{
"id" : "Observation.component:gene-studied",
"path" : "Observation.component",
"sliceName" : "gene-studied",
"mustSupport" : true,
"mapping" : [
{
"identity" : "MII-KDS",
"map" : "mide-dataelement-1400",
"comment" : "Getestete Gene ID"
}
]
},
{
"id" : "Observation.component:cytogenetic-location",
"path" : "Observation.component",
"sliceName" : "cytogenetic-location",
"mustSupport" : true
},
{
"id" : "Observation.component:reference-sequence-assembly",
"path" : "Observation.component",
"sliceName" : "reference-sequence-assembly",
"mustSupport" : true
},
{
"id" : "Observation.component:coding-hgvs",
"path" : "Observation.component",
"sliceName" : "coding-hgvs",
"mustSupport" : true
},
{
"id" : "Observation.component:genomic-hgvs",
"path" : "Observation.component",
"sliceName" : "genomic-hgvs",
"mustSupport" : true
},
{
"id" : "Observation.component:genomic-ref-seq",
"path" : "Observation.component",
"sliceName" : "genomic-ref-seq",
"mustSupport" : true
},
{
"id" : "Observation.component:transcript-ref-seq",
"path" : "Observation.component",
"sliceName" : "transcript-ref-seq",
"mustSupport" : true
},
{
"id" : "Observation.component:exact-start-end",
"path" : "Observation.component",
"sliceName" : "exact-start-end",
"mustSupport" : true
},
{
"id" : "Observation.component:inner-start-end",
"path" : "Observation.component",
"sliceName" : "inner-start-end",
"mustSupport" : true
},
{
"id" : "Observation.component:outer-start-end",
"path" : "Observation.component",
"sliceName" : "outer-start-end",
"mustSupport" : true
},
{
"id" : "Observation.component:ref-allele",
"path" : "Observation.component",
"sliceName" : "ref-allele",
"mustSupport" : true
},
{
"id" : "Observation.component:alt-allele",
"path" : "Observation.component",
"sliceName" : "alt-allele",
"mustSupport" : true
},
{
"id" : "Observation.component:coding-change-type",
"path" : "Observation.component",
"sliceName" : "coding-change-type",
"mustSupport" : true
},
{
"id" : "Observation.component:genomic-source-class",
"path" : "Observation.component",
"sliceName" : "genomic-source-class",
"mustSupport" : true
},
{
"id" : "Observation.component:sample-allelic-frequency",
"path" : "Observation.component",
"sliceName" : "sample-allelic-frequency",
"mustSupport" : true
},
{
"id" : "Observation.component:allelic-read-depth",
"path" : "Observation.component",
"sliceName" : "allelic-read-depth",
"mustSupport" : true
},
{
"id" : "Observation.component:allelic-state",
"path" : "Observation.component",
"sliceName" : "allelic-state",
"mustSupport" : true
},
{
"id" : "Observation.component:variant-inheritance",
"path" : "Observation.component",
"sliceName" : "variant-inheritance",
"mustSupport" : true
},
{
"id" : "Observation.component:variation-code",
"path" : "Observation.component",
"sliceName" : "variation-code",
"mustSupport" : true
},
{
"id" : "Observation.component:chromosome-identifier",
"path" : "Observation.component",
"sliceName" : "chromosome-identifier",
"mustSupport" : true
},
{
"id" : "Observation.component:protein-hgvs",
"path" : "Observation.component",
"sliceName" : "protein-hgvs",
"mustSupport" : true
},
{
"id" : "Observation.component:amino-acid-change-type",
"path" : "Observation.component",
"sliceName" : "amino-acid-change-type",
"mustSupport" : true
},
{
"id" : "Observation.component:molecular-consequence",
"path" : "Observation.component",
"sliceName" : "molecular-consequence",
"mustSupport" : true
},
{
"id" : "Observation.component:copy-number",
"path" : "Observation.component",
"sliceName" : "copy-number",
"mustSupport" : true
},
{
"id" : "Observation.component:variant-confidence-status",
"path" : "Observation.component",
"sliceName" : "variant-confidence-status",
"mustSupport" : true
},
{
"id" : "Observation.component:dna-region",
"path" : "Observation.component",
"sliceName" : "dna-region",
"short" : "DNA region name [Identifier]",
"definition" : "A human readable name for the region of interest. Typically Exon #, Intron # or other.",
"min" : 0,
"max" : "*",
"mustSupport" : true
},
{
"id" : "Observation.component:dna-region.code",
"path" : "Observation.component.code",
"short" : "47999-8",
"patternCodeableConcept" : {
"coding" : [
{
"code" : "47999-8",
"system" : "http://loinc.org"
}
]
}
},
{
"id" : "Observation.component:dna-region.value[x]",
"path" : "Observation.component.value[x]",
"min" : 1,
"type" : [
{
"code" : "string"
}
]
},
{
"id" : "Observation.component:gene-fusion",
"path" : "Observation.component",
"sliceName" : "gene-fusion",
"short" : "Gene fusion transcript details in Blood or Tissue by Molecular genetics method Narrative",
"min" : 0,
"max" : "1",
"mustSupport" : true
},
{
"id" : "Observation.component:gene-fusion.code",
"path" : "Observation.component.code",
"patternCodeableConcept" : {
"coding" : [
{
"code" : "95123-6",
"system" : "http://loinc.org"
}
]
}
},
{
"id" : "Observation.component:gene-fusion.value[x]",
"path" : "Observation.component.value[x]",
"short" : "HGNC recommends for products of gene translocations or fusions (format GENESYMBOL1::GENESYMBOL2) and readthrough transcripts (format GENESYMBOL1-GENESYMBOL2)",
"min" : 1,
"type" : [
{
"code" : "CodeableConcept"
}
],
"binding" : {
"strength" : "extensible",
"valueSet" : "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs"
}
},
{
"id" : "Observation.component:detection-limit",
"path" : "Observation.component",
"sliceName" : "detection-limit",
"short" : "Laboratory device Detection limit",
"min" : 0,
"max" : "1",
"mustSupport" : true
},
{
"id" : "Observation.component:detection-limit.code",
"path" : "Observation.component.code",
"patternCodeableConcept" : {
"coding" : [
{
"code" : "87706-8",
"system" : "http://loinc.org"
}
]
}
},
{
"id" : "Observation.component:detection-limit.value[x]",
"path" : "Observation.component.value[x]",
"short" : "Usually reported as percentage.",
"type" : [
{
"code" : "Quantity"
}
]
}
]
},
"text" : {
}
}
XIG built as of ??metadata-date??. Found ??metadata-resources?? resources in ??metadata-packages?? packages.
FHIR