description: Beschreibt eine gefundene genetische Variante.
package_name: de.medizininformatikinitiative.kerndatensatz.mtb
derivation: constraint
name: MII_PR_MTB_Einfache_Variante
type: Observation
elements:
  meta:
    mustSupport: true
    index: 0
    elements:
      profile: {mustSupport: true, index: 1}
  identifier:
    short: VariantenId im Kontext des NGS-Befundes
    _short:
      extension:
      - url: http://hl7.org/fhir/StructureDefinition/translation
        extension:
        - {url: lang, valueCode: de-DE}
        - {url: content, valueString: VariantenId im Kontext des NGS-Befundes}
      - url: http://hl7.org/fhir/StructureDefinition/translation
        extension:
        - {url: lang, valueCode: en}
        - {url: content, valueString: Variant ID in the context of the NGS report}
    _definition:
      extension:
      - url: http://hl7.org/fhir/StructureDefinition/translation
        extension:
        - {url: lang, valueCode: de-DE}
        - {url: content, valueString: Eindeutige ID der Variante im Kontext des NGS-Befundes.}
      - url: http://hl7.org/fhir/StructureDefinition/translation
        extension:
        - {url: lang, valueCode: en}
        - {url: content, valueString: Unique ID of the variant in the context of the NGS report.}
    mustSupport: true
    index: 2
  category: {index: 3}
  focus:
    type: Reference
    mustSupport: true
    refers: ['https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-diagnose-primaertumor', 'https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/StructureDefinition/mii-pr-onko-diagnose-primaertumor']
    index: 4
  component:
    _definition:
      extension:
      - url: http://hl7.org/fhir/StructureDefinition/translation
        extension:
        - {url: lang, valueCode: de-DE}
        - {url: content, valueString: Gen auf dem sich die Variante befindet.}
      - url: http://hl7.org/fhir/StructureDefinition/translation
        extension:
        - {url: lang, valueCode: en}
        - {url: content, valueString: Gene on which the variant is located.}
    index: 5
    slicing:
      slices:
        alt-allele:
          match: {}
          schema:
            _definition:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Veraenderte Sequenz.}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Altered sequence.}
            index: 16
        allelic-read-depth:
          match: {}
          schema:
            _definition:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Lesetiefe am Ort der Variante.}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Read depth at the location of the variant.}
            index: 18
        representative-transcript-ref-seq:
          match: {}
          schema:
            short: Transcript ID
            _short:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Transkript-ID}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Transcript ID}
            _definition:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Ensemble Transkript-ID - ENST...}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Ensemble Transcript ID - ENST...}
            index: 8
            elements:
              value:
                choices: []
                index: 10
        variation-code:
          match: {}
          schema:
            _definition:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Code der Variante in einer oeffentlichen Datenbank - z.B. ClinVar}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Code of the variant in a public database - e.g. ClinVar}
            index: 19
        exact-start-end:
          match: {}
          schema:
            short: Position
            _short:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Position}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Position}
            _definition:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Genaue Position der genetischen Variante.}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Exact position of the genetic variant.}
            index: 11
            elements:
              code: {mustSupport: true, index: 12}
              value:
                mustSupport: true
                choices: []
                index: 14
        ref-allele:
          match: {}
          schema:
            _definition:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Referenzsequenz am Ort der genetischen Variante.}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Reference sequence at the location of the genetic variant.}
            index: 15
        representative-coding-hgvs:
          match: {}
          schema:
            _definition:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: HGVS-kodierte Variantenbeschreibung im kodierenden Bereich auf DNA-Basenebene.}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: HGVS-coded variant description in the coding region at DNA base level.}
            index: 7
        sample-allelic-frequency:
          match: {}
          schema:
            _definition:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Relative Haeufigkeit des Allels am Ort der Variante.}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Relative frequency of the allele at the location of the variant.}
            index: 17
        chromosome-identifier:
          match: {}
          schema:
            _definition:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Chromosom auf dem sich die Variante befindet - chr1 - chr22 - chrX - chrY}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Chromosome on which the variant is located - chr1 - chr22 - chrX - chrY}
            index: 6
        representative-protein-hgvs:
          match: {}
          schema:
            _definition:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: HGVS-kodierte Variantenbeschreibung im kodierenden Bereich auf Aminosaeuren-Ebene.}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: HGVS-coded variant description in the coding region at amino acid level.}
            index: 20
        gene-studied:
          match: {}
          schema:
            _definition:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Gen auf dem sich die Variante befindet.}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Gene on which the variant is located.}
            index: 5
        dna-region:
          match: {}
          schema:
            short: Exon
            _short:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: Exon}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: Exon}
            _definition:
              extension:
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: de-DE}
                - {url: content, valueString: 'Menschenlesbarer Name des Exons als Text - typischerweise Exon #'}
              - url: http://hl7.org/fhir/StructureDefinition/translation
                extension:
                - {url: lang, valueCode: en}
                - {url: content, valueString: 'Human-readable name of the exon as text - typically Exon #'}
            index: 21
package_version: 2026.0.1
class: profile
kind: resource
url: https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-einfache-variante
base: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante
version: 2026.0.1