description: Extension to capture the penetrance of genetic variants associated with a rare disease
package_name: de.medizininformatikinitiative.kerndatensatz.seltene
derivation: constraint
name: Penetrance
type: Extension
elements:
  extension: {index: 0}
  url:
    pattern: {type: Uri, value: 'https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-penetrance'}
    index: 1
  value:
    short: Quantitative penetrance percentage
    choices: [valueQuantity]
    index: 10
    slicing:
      slices:
        valueQuantity:
          match: {}
          schema:
            short: Quantitative penetrance percentage
            choices: [valueQuantity]
            index: 10
          min: 0
          max: 1
  valueCodeableConcept:
    type: CodeableConcept
    short: Qualitative penetrance description
    choiceOf: value
    index: 8
    slicing:
      slices:
        valueCodeableConcept:
          match: {}
          schema: {type: CodeableConcept, short: Qualitative penetrance description, choiceOf: value, index: 8}
          min: 0
          max: 1
  valueQuantity:
    type: Quantity
    short: Quantitative penetrance percentage
    choiceOf: value
    index: 11
    slicing:
      slices:
        valueQuantity:
          match: {}
          schema: {type: Quantity, short: Quantitative penetrance percentage, choiceOf: value, index: 11}
          min: 0
          max: 1
  value[x]:
    elements:
      unit:
        pattern: {type: String, value: '%'}
        index: 12
      system:
        pattern: {type: Uri, value: 'http://unitsofmeasure.org'}
        index: 13
      code:
        pattern: {type: Code, value: '%'}
        index: 14
package_version: 2026.0.0-ballot
extensions: {}
class: extension
kind: complex-type
url: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-penetrance
base: http://hl7.org/fhir/StructureDefinition/Extension
version: 2026.0.0-ballot