Resource StructureDefinition/FHIR Server from package de.medizininformatikinitiative.kerndatensatz.mtb#2025.0.0-ballot (62 ms)
Resources that use this resource
Resources that this resource uses
Source
{
"resourceType" : "StructureDefinition",
"id" : "mii-pr-mtb-einfache-variante",
"url" : "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-einfache-variante",
"version" : "2024.0.0-ballot",
"name" : "MII_PR_MTB_Einfache_Variante",
"title" : "MII PR MTB Einfache Variante",
"status" : "draft",
"publisher" : "Medizininformatik Initiative",
"contact" : [
{
"telecom" : [
{
"system" : "url",
"value" : "https://www.medizininformatik-initiative.de"
}
]
}
],
"description" : "Beschreibt eine gefundene genetische Variante.",
"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.meta.profile",
"path" : "Observation.meta.profile",
"mustSupport" : true
},
{
"id" : "Observation.identifier",
"path" : "Observation.identifier",
"short" : "VariantenId im Kontext des NGS-Befundes",
"definition" : "Eindeutige ID der Variante im Kontext des NGS-Befundes.",
"mustSupport" : true
},
{
"id" : "Observation.category",
"path" : "Observation.category",
"slicing" : {
"discriminator" : [
{
"type" : "value",
"path" : "coding"
}
],
"description" : "Slices for category",
"ordered" : false,
"rules" : "open"
},
"min" : 2
},
{
"id" : "Observation.category:geCategory",
"path" : "Observation.category",
"sliceName" : "geCategory",
"min" : 1,
"max" : "1"
},
{
"id" : "Observation.category:geCategory.coding",
"path" : "Observation.category.coding",
"min" : 1,
"max" : "1",
"patternCoding" : {
"code" : "GE",
"system" : "http://terminology.hl7.org/CodeSystem/v2-0074"
}
},
{
"id" : "Observation.focus",
"path" : "Observation.focus",
"type" : [
{
"code" : "Reference",
"targetProfile" : [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/StructureDefinition/mii-pr-onko-diagnose-primaertumor",
"https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-diagnose-primaertumor"
]
}
],
"mustSupport" : true
},
{
"id" : "Observation.component:gene-studied",
"path" : "Observation.component",
"sliceName" : "gene-studied",
"definition" : "Gen auf dem sich die Variante befindet."
},
{
"id" : "Observation.component:coding-hgvs",
"path" : "Observation.component",
"sliceName" : "coding-hgvs",
"definition" : "HGVS-kodierte Variantenbeschreibung im kodierenden Bereich auf DNA-Baseneben."
},
{
"id" : "Observation.component:transcript-ref-seq",
"path" : "Observation.component",
"sliceName" : "transcript-ref-seq",
"short" : "Transcript ID",
"definition" : "Ensemble Transcript ID ('ENST...')."
},
{
"id" : "Observation.component:transcript-ref-seq.value[x]",
"path" : "Observation.component.value[x]",
"binding" : {
"strength" : "required",
"valueSet" : "http://ensembl.org"
}
},
{
"id" : "Observation.component:exact-start-end",
"path" : "Observation.component",
"sliceName" : "exact-start-end",
"short" : "Position",
"definition" : "Genaue Position 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:ref-allele",
"path" : "Observation.component",
"sliceName" : "ref-allele",
"definition" : "Referenzsequenz am Ort der genetischen Variante."
},
{
"id" : "Observation.component:alt-allele",
"path" : "Observation.component",
"sliceName" : "alt-allele",
"definition" : "Veränderte Sequenz."
},
{
"id" : "Observation.component:sample-allelic-frequency",
"path" : "Observation.component",
"sliceName" : "sample-allelic-frequency",
"definition" : "Relative Häufigkeit des Allels am Ort der Variante."
},
{
"id" : "Observation.component:allelic-read-depth",
"path" : "Observation.component",
"sliceName" : "allelic-read-depth",
"definition" : "Lesetiefe am Ort der Variante."
},
{
"id" : "Observation.component:variation-code",
"path" : "Observation.component",
"sliceName" : "variation-code",
"definition" : "Code der Variante in einer öffentlichen Datenbank (z.B. ClinVar)."
},
{
"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:protein-hgvs",
"path" : "Observation.component",
"sliceName" : "protein-hgvs",
"definition" : "HGVS-kodierte Variantenbeschreibung im kodierenden Bereich auf Aminosäuren-Ebene."
},
{
"id" : "Observation.component:dna-region",
"path" : "Observation.component",
"sliceName" : "dna-region",
"short" : "Exon",
"definition" : "Menschenlesbarer Name des Exons als Text, typischeweise Exon #"
}
]
},
"text" : {
}
}
XIG built as of ??metadata-date??. Found ??metadata-resources?? resources in ??metadata-packages?? packages.
FHIR