description: Profile for genetically confirmed diagnosis of rare diseases with OMIM codes and links to MolGen variant/diagnostic implication resources. This profile is used when a rare disease diagnosis has been confirmed through genetic testing.
package_name: de.medizininformatikinitiative.kerndatensatz.seltene
derivation: constraint
name: MII_PR_Seltene_GeneticDiagnosis
type: Condition
elements:
  onset:
    choices: []
    index: 16
    slicing:
      slices:
        onsetDateTime:
          match: {}
          schema:
            choices: [onsetDateTime]
            index: 18
  category:
    short: Kategorisierung als genetische Erkrankung
    mustSupport: true
    pattern:
      type: CodeableConcept
      value:
        coding:
        - {code: '782964007', system: 'http://snomed.info/sct', display: Genetic disease}
    index: 5
  stage: {mustSupport: true, index: 24}
  encounter: {index: 14}
  evidence:
    short: Genetic evidence supporting the diagnosis
    mustSupport: true
    index: 25
    elements:
      code:
        short: Type of genetic evidence
        mustSupport: true
        index: 26
        elements:
          coding:
            index: 27
            slicing:
              rules: open
              discriminator:
              - {path: $this, type: pattern}
              min: null
              slices:
                geneticEvidence:
                  match: {code: '106221001', system: 'http://snomed.info/sct', display: Genetic finding}
                  schema:
                    short: Indicates genetic evidence
                    mustSupport: true
                    pattern:
                      type: Coding
                      value: {code: '106221001', system: 'http://snomed.info/sct', display: Genetic finding}
                    index: 28
                  min: 0
                  max: 1
      detail:
        short: Reference to MolGen Variant or Diagnostic Implication
        refers: ['http://hl7.org/fhir/StructureDefinition/DiagnosticReport', 'http://hl7.org/fhir/StructureDefinition/Observation']
        type: Reference
        mustSupport: true
        index: 29
    required: [detail]
  abatement:
    mustSupport: true
    choices: []
    index: 21
  asserter: {mustSupport: true, index: 23}
  extension:
    index: 0
    slicing:
      slices:
        Feststellungsdatum:
          match: {}
          schema:
            index: 0
            elements:
              value:
                choices: []
                index: 2
        penetrance:
          match: {}
          schema: {short: Penetranz der genetischen Variante, type: Extension, mustSupport: true, url: 'https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-penetrance', index: 3}
          min: 0
          max: 1
  recorder: {mustSupport: true, index: 22}
  severity: {mustSupport: true, index: 6}
  code:
    elements:
      coding:
        index: 7
        slicing:
          slices:
            icd10-gm:
              match: {}
              schema: {index: 7}
            orphanet:
              match: {}
              schema: {index: 8}
            omim:
              match: {}
              schema:
                short: OMIM disease code
                mustSupport: true
                array: true
                pattern:
                  type: Coding
                  value: {system: 'http://omim.org'}
                index: 9
                elements:
                  system: {mustSupport: true, index: 10}
                  code: {mustSupport: true, index: 11}
                  display: {mustSupport: true, index: 12}
                required: [system, code]
  onsetDateTime:
    type: dateTime
    choiceOf: onset
    index: 19
    slicing:
      slices:
        onsetDateTime:
          match: {}
          schema: {type: dateTime, choiceOf: onset, index: 19}
  verificationStatus: {index: 4}
  subject: {index: 13}
package_version: 2026.0.0-ballot
extensions:
  Feststellungsdatum:
    url: null
    index: 0
    elements:
      value:
        choices: []
        index: 2
  penetrance: {url: 'https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-penetrance', min: 0, max: 1, short: Penetranz der genetischen Variante, type: Extension, mustSupport: true, index: 3}
class: profile
kind: resource
url: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-genetic-diagnosis
base: https://www.medizininformatik-initiative.de/fhir/core/modul-diagnose/StructureDefinition/Diagnose
version: 2026.0.0-ballot
required: [category, evidence]