{
  "description": "Beschreibt eine gefundene genetische Variante.",
  "_filename": "StructureDefinition-mii-pr-mtb-einfache-variante.json",
  "package_name": "de.medizininformatikinitiative.kerndatensatz.mtb",
  "date": null,
  "derivation": "constraint",
  "publisher": "Medizininformatik Initiative",
  "fhirVersion": "4.0.1",
  "name": "MII_PR_MTB_Einfache_Variante",
  "abstract": false,
  "type": "Observation",
  "experimental": null,
  "resourceType": "StructureDefinition",
  "title": "MII PR MTB Einfache Variante",
  "package_version": "2025.0.0-ballot-alpha.1",
  "status": "draft",
  "id": "2e5b3eaa-c00d-4197-b338-c0d27763c96a",
  "kind": "resource",
  "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-einfache-variante",
  "version": "2024.0.0-ballot",
  "differential": {
    "element": [ {
      "id": "Observation.meta",
      "path": "Observation.meta",
      "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",
      "short": "Transcript ID",
      "sliceName": "transcript-ref-seq",
      "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",
      "short": "Position",
      "sliceName": "exact-start-end",
      "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",
      "short": "Exon",
      "sliceName": "dna-region",
      "definition": "Menschenlesbarer Name des Exons als Text, typischeweise Exon #"
    } ]
  },
  "contact": [ {
    "telecom": [ {
      "value": "https://www.medizininformatik-initiative.de",
      "system": "url"
    } ]
  } ],
  "baseDefinition": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante"
}