description: Dieses Profil ermöglicht eine vollständige Beschreibung der gefundenen Variante unter Verwendung von Eigenschaften aus einer Vielzahl von Testmethoden.
package_name: de.medizininformatikinitiative.kerndatensatz.molgen
derivation: constraint
name: MII_PR_MolGen_Variante
type: Observation
elements:
  category: {mustSupport: true, index: 1}
  method: {mustSupport: true, index: 6}
  specimen: {mustSupport: true, index: 7}
  value:
    mustSupport: true
    choices: []
    index: 5
  component:
    mustSupport: true
    index: 9
    slicing:
      slices:
        alt-allele:
          match: {}
          schema: {mustSupport: true, index: 21}
        gene-fusion:
          match: {}
          schema:
            short: Gene fusion transcript details in Blood or Tissue by Molecular genetics method Narrative
            mustSupport: true
            index: 40
            elements:
              code:
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 95123-6, system: 'http://loinc.org'}
                index: 41
              value:
                short: HGNC recommends for products of gene translocations or fusions (format GENESYMBOL1::GENESYMBOL2) and readthrough transcripts (format GENESYMBOL1-GENESYMBOL2)
                choices: [valueCodeableConcept]
                index: 43
              valueCodeableConcept: {type: CodeableConcept, short: 'HGNC recommends for products of gene translocations or fusions (format GENESYMBOL1::GENESYMBOL2) and readthrough transcripts (format GENESYMBOL1-GENESYMBOL2)', choiceOf: value, index: 44}
            required: [value, valueCodeableConcept]
        allelic-state:
          match: {}
          schema: {mustSupport: true, index: 26}
        molecular-consequence:
          match: {}
          schema: {mustSupport: true, index: 32}
        allelic-read-depth:
          match: {}
          schema: {mustSupport: true, index: 25}
        outer-start-end:
          match: {}
          schema: {mustSupport: true, index: 19}
        coding-hgvs:
          match: {}
          schema: {mustSupport: true, index: 13}
        genomic-source-class:
          match: {}
          schema: {mustSupport: true, index: 23}
        copy-number:
          match: {}
          schema: {mustSupport: true, index: 33}
        variation-code:
          match: {}
          schema: {mustSupport: true, index: 28}
        exact-start-end:
          match: {}
          schema: {mustSupport: true, index: 17}
        genomic-hgvs:
          match: {}
          schema: {mustSupport: true, index: 14}
        ref-allele:
          match: {}
          schema: {mustSupport: true, index: 20}
        inner-start-end:
          match: {}
          schema: {mustSupport: true, index: 18}
        amino-acid-change-type:
          match: {}
          schema: {mustSupport: true, index: 31}
        cytogenetic-location:
          match: {}
          schema: {mustSupport: true, index: 11}
        variant-confidence-status:
          match: {}
          schema: {mustSupport: true, index: 34}
        detection-limit:
          match: {}
          schema:
            short: Laboratory device Detection limit
            mustSupport: true
            index: 45
            elements:
              code:
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 87706-8, system: 'http://loinc.org'}
                index: 46
              value:
                short: Usually reported as percentage.
                choices: [valueQuantity]
                index: 48
              valueQuantity: {type: Quantity, short: Usually reported as percentage., choiceOf: value, index: 49}
        transcript-ref-seq:
          match: {}
          schema: {mustSupport: true, index: 16}
        sample-allelic-frequency:
          match: {}
          schema: {mustSupport: true, index: 24}
        protein-hgvs:
          match: {}
          schema: {mustSupport: true, index: 30}
        genomic-ref-seq:
          match: {}
          schema: {mustSupport: true, index: 15}
        reference-sequence-assembly:
          match: {}
          schema: {mustSupport: true, index: 12}
        variant-inheritance:
          match: {}
          schema: {mustSupport: true, index: 27}
        chromosome-identifier:
          match: {}
          schema: {mustSupport: true, index: 29}
        gene-studied:
          match: {}
          schema: {mustSupport: true, index: 10}
        conclusion-string:
          match: {}
          schema: {mustSupport: true, index: 9}
        dna-region:
          match: {}
          schema:
            short: DNA region name [Identifier]
            mustSupport: true
            array: true
            index: 35
            elements:
              code:
                short: 47999-8
                pattern:
                  type: CodeableConcept
                  value:
                    coding:
                    - {code: 47999-8, system: 'http://loinc.org'}
                index: 36
              value:
                choices: [valueString]
                index: 38
              valueString: {type: string, choiceOf: value, index: 39}
            required: [valueString, value]
        coding-change-type:
          match: {}
          schema: {mustSupport: true, index: 22}
  status: {mustSupport: true, index: 0}
  code: {mustSupport: true, index: 2}
  device: {mustSupport: true, index: 8}
  subject:
    type: Reference
    mustSupport: true
    refers: ['http://hl7.org/fhir/StructureDefinition/Group', 'http://hl7.org/fhir/StructureDefinition/Patient']
    index: 3
package_version: 2025.0.0-alpha2
class: profile
kind: resource
url: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante
base: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant
version: 2025.0.0
required: [subject]