description: Beschreibt eine gefundene genetische Variante.
package_name: rs/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, mustSupport: true, index: 2}
  category:
    array: true
    min: 2
    index: 3
    slicing:
      rules: open
      ordered: false
      description: Slices for category
      discriminator:
      - {path: coding, type: value}
      min: 2
      slices:
        geCategory:
          match:
            coding: {code: GE, system: 'http://terminology.hl7.org/CodeSystem/v2-0074'}
          schema:
            _required: true
            index: 4
            elements:
              coding:
                pattern:
                  type: Coding
                  value: {code: GE, system: 'http://terminology.hl7.org/CodeSystem/v2-0074'}
                type: Coding
                index: 5
            required: [coding]
  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: 6
  component:
    index: 7
    slicing:
      slices:
        alt-allele:
          match: {}
          schema: {index: 17}
        allelic-read-depth:
          match: {}
          schema: {index: 19}
        coding-hgvs:
          match: {}
          schema: {index: 8}
        variation-code:
          match: {}
          schema: {index: 20}
        exact-start-end:
          match: {}
          schema:
            short: Position
            index: 12
            elements:
              code: {mustSupport: true, index: 13}
              value:
                mustSupport: true
                choices: []
                index: 15
        ref-allele:
          match: {}
          schema: {index: 16}
        transcript-ref-seq:
          match: {}
          schema:
            short: Transcript ID
            index: 9
            elements:
              value:
                choices: []
                index: 11
        sample-allelic-frequency:
          match: {}
          schema: {index: 18}
        protein-hgvs:
          match: {}
          schema: {index: 22}
        chromosome-identifier:
          match: {}
          schema: {index: 21}
        gene-studied:
          match: {}
          schema: {index: 7}
        dna-region:
          match: {}
          schema: {short: Exon, index: 23}
package_version: 2025.0.0-ballot
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: 2024.0.0-ballot