{
  "description": "Extension to capture the penetrance of genetic variants associated with a rare disease",
  "_filename": "StructureDefinition-mii-ex-seltene-penetrance.json",
  "package_name": "de.medizininformatikinitiative.kerndatensatz.seltene",
  "date": null,
  "derivation": "constraint",
  "publisher": "Medizininformatik Initiative",
  "fhirVersion": "4.0.1",
  "name": "Penetrance",
  "abstract": false,
  "type": "Extension",
  "experimental": null,
  "resourceType": "StructureDefinition",
  "title": "MII EX SE Penetrance",
  "package_version": "2026.0.0-ballot",
  "status": "draft",
  "id": "cc18acce-5b22-43a7-8717-cc3e596cbbce",
  "kind": "complex-type",
  "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-penetrance",
  "context": [ {
    "type": "element",
    "expression": "Condition"
  } ],
  "version": "2026.0.0-ballot",
  "differential": {
    "element": [ {
      "id": "Extension",
      "path": "Extension",
      "short": "MII EX SE Penetrance",
      "definition": "Extension to capture the penetrance of genetic variants associated with a rare disease"
    }, {
      "id": "Extension.extension",
      "max": "0",
      "path": "Extension.extension"
    }, {
      "id": "Extension.url",
      "path": "Extension.url",
      "fixedUri": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-penetrance"
    }, {
      "id": "Extension.value[x]",
      "path": "Extension.value[x]",
      "type": [ {
        "code": "CodeableConcept"
      }, {
        "code": "Quantity"
      } ],
      "slicing": {
        "rules": "open",
        "ordered": false,
        "discriminator": [ {
          "path": "$this",
          "type": "type"
        } ]
      }
    }, {
      "id": "Extension.value[x]:valueCodeableConcept",
      "max": "1",
      "min": 0,
      "path": "Extension.value[x]",
      "type": [ {
        "code": "CodeableConcept"
      } ],
      "short": "Qualitative penetrance description",
      "binding": {
        "strength": "extensible",
        "valueSet": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-penetrance"
      },
      "sliceName": "valueCodeableConcept"
    }, {
      "id": "Extension.value[x]:valueQuantity",
      "max": "1",
      "min": 0,
      "path": "Extension.value[x]",
      "type": [ {
        "code": "Quantity"
      } ],
      "short": "Quantitative penetrance percentage",
      "sliceName": "valueQuantity"
    }, {
      "id": "Extension.value[x]:valueQuantity.unit",
      "path": "Extension.value[x].unit",
      "patternString": "%"
    }, {
      "id": "Extension.value[x]:valueQuantity.system",
      "path": "Extension.value[x].system",
      "patternUri": "http://unitsofmeasure.org"
    }, {
      "id": "Extension.value[x]:valueQuantity.code",
      "path": "Extension.value[x].code",
      "patternCode": "%"
    } ]
  },
  "contact": [ {
    "telecom": [ {
      "value": "https://www.medizininformatik-initiative.de",
      "system": "url"
    } ]
  } ],
  "baseDefinition": "http://hl7.org/fhir/StructureDefinition/Extension"
}