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Packagede.medizininformatikinitiative.kerndatensatz.molgen
Resource TypeServiceRequest
IdServiceRequest-mii-exa-molgen-anforderung-2.json
FHIR VersionR4

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Source1

{
  "resourceType": "ServiceRequest",
  "id": "mii-exa-molgen-anforderung-2",
  "meta": {
    "profile": [
      "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/anforderung-genetischer-test|2026.0.4"
    ]
  },
  "identifier": [
    {
      "system": "https://www.charite.de/fhir/auftragsnummern",
      "value": "gen_test_02"
    }
  ],
  "status": "active",
  "intent": "order",
  "category": [
    {
      "coding": [
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          "code": "108252007",
          "display": "Laboratory procedure (procedure)"
        }
      ]
    }
  ],
  "code": {
    "coding": [
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        "system": "http://snomed.info/sct",
        "code": "405825005",
        "display": "Molecular genetic test (procedure)"
      },
      {
        "system": "http://loinc.org",
        "code": "40428-5",
        "display": "NIPBL gene targeted mutation analysis in Blood or Tissue by Molecular genetics method"
      },
      {
        "system": "http://www.genenames.org/geneId",
        "code": "HGNC:28862",
        "display": "NIPBL"
      }
    ],
    "text": "Molekulargenetische Diagnose eines Cornelia de Lange-Syndrom (MIM122470),autosomal dominanter Erbgang"
  },
  "subject": {
    "reference": "Patient/mii-exa-molgen-patient-2"
  },
  "authoredOn": "2022-03-16",
  "requester": {
    "reference": "Practitioner/mii-exa-molgen-practitioner-physician"
  },
  "reasonCode": [
    {
      "coding": [
        {
          "system": "http://snomed.info/sct",
          "code": "395507008",
          "display": "Premature infant (finding)"
        }
      ]
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      "coding": [
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          "system": "http://snomed.info/sct",
          "code": "276610007",
          "display": "Low birth weight infant (disorder)"
        },
        {
          "system": "http://human-phenotype-ontology.org",
          "code": "HP:0001518",
          "display": "Small for gestational age"
        }
      ]
    },
    {
      "coding": [
        {
          "system": "http://snomed.info/sct",
          "code": "431265009",
          "display": "Fetal microcephaly (disorder)"
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          "code": "HP:0000252",
          "display": "Microcephaly"
        }
      ]
    },
    {
      "coding": [
        {
          "system": "http://snomed.info/sct",
          "code": "137511000119103",
          "display": "Carrier of muscular dystrophy (finding)"
        },
        {
          "system": "http://human-phenotype-ontology.org",
          "code": "HP:0003560",
          "display": "Muscular dystrophy"
        }
      ]
    },
    {
      "coding": [
        {
          "system": "http://human-phenotype-ontology.org",
          "code": "HP:0000527",
          "display": "Long eyelashes"
        }
      ]
    }
  ],
  "reasonReference": [
    {
      "reference": "Observation/mii-exa-molgen-phenotypic-feature-1"
    },
    {
      "reference": "Observation/mii-exa-molgen-phenotypic-feature-2"
    },
    {
      "reference": "Observation/mii-exa-molgen-phenotypic-feature-3"
    },
    {
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    }
  ],
  "specimen": [
    {
      "reference": "Specimen/mii-exa-molgen-specimen-2"
    }
  ]
}