description: Profile for clinical diagnosis of rare diseases with HPO phenotype codes. This profile is used for clinically diagnosed rare diseases based on phenotypic presentation.
package_name: de.medizininformatikinitiative.kerndatensatz.seltene
derivation: constraint
name: MII_PR_Seltene_ClinicalDiagnosis
type: Condition
elements:
  onset:
    choices: []
    index: 14
    slicing:
      slices:
        onsetDateTime:
          match: {}
          schema:
            choices: [onsetDateTime]
            index: 16
  category: {mustSupport: true, index: 3}
  stage:
    mustSupport: true
    index: 22
    elements:
      assessment: {short: Reference to HPO-based severity assessment, mustSupport: true, index: 23}
      type: {short: 'Stage type (e.g., severity, progression)', mustSupport: true, index: 24}
  encounter: {index: 12}
  evidence:
    mustSupport: true
    index: 25
    elements:
      code:
        short: Manifestation/symptom supporting the diagnosis
        mustSupport: true
        index: 26
        elements:
          coding:
            binding: {strength: extensible, valueSet: 'https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-phenotypic-observation-codes'}
            index: 27
      detail:
        type: Reference
        short: Reference to Observation resources containing HPO-coded symptoms
        mustSupport: true
        refers: ['http://hl7.org/fhir/StructureDefinition/Observation']
        index: 28
  abatement:
    mustSupport: true
    choices: []
    index: 19
  asserter: {mustSupport: true, index: 21}
  extension:
    index: 0
    slicing:
      slices:
        Feststellungsdatum:
          match: {}
          schema:
            index: 0
            elements:
              value:
                choices: []
                index: 2
  recorder: {mustSupport: true, index: 20}
  severity: {mustSupport: true, index: 4}
  code:
    elements:
      coding:
        index: 5
        slicing:
          slices:
            icd10-gm:
              match: {}
              schema: {index: 5}
            orphanet:
              match: {}
              schema: {index: 6}
            hpo:
              match: {}
              schema:
                short: HPO Phenotype code
                mustSupport: true
                array: true
                binding: {strength: required, valueSet: 'https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-phenotypic-observation-codes'}
                pattern:
                  type: Coding
                  value: {system: 'http://human-phenotype-ontology.org'}
                index: 7
                elements:
                  system: {mustSupport: true, index: 8}
                  code: {mustSupport: true, index: 9}
                  display: {mustSupport: true, index: 10}
                required: [system, code]
  onsetDateTime:
    type: dateTime
    choiceOf: onset
    index: 17
    slicing:
      slices:
        onsetDateTime:
          match: {}
          schema: {type: dateTime, choiceOf: onset, index: 17}
  subject: {index: 11}
package_version: 2026.0.0-ballot
extensions:
  Feststellungsdatum:
    url: null
    index: 0
    elements:
      value:
        choices: []
        index: 2
class: profile
kind: resource
url: https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-diagnosis
base: https://www.medizininformatik-initiative.de/fhir/core/modul-diagnose/StructureDefinition/Diagnose
version: 2026.0.0-ballot
required: [category]