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

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Narrative

Note: links and images are rebased to the (stated) source


English


Generated Narrative: ServiceRequest mii-exa-molgen-anforderung-2

Profile: MII PR MolGen Anforderung genetischer Test version: 2027.0.0-ballot.1

identifier: https://www.charite.de/fhir/auftragsnummern/gen_test_02

status: Active

intent: Order

category: Laboratory procedure (procedure)

code: Molekulargenetische Diagnose eines Cornelia de Lange-Syndrom (MIM122470),autosomal dominanter Erbgang

subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))

authoredOn: 2022-03-16

requester: Practitioner Dr. Linda Rubens(official)

reasonCode: Premature infant (finding), Low birth weight infant (disorder), Fetal microcephaly (disorder), Carrier of muscular dystrophy (finding), Long eyelashes

reasonReference:

specimen: Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#specimen_02; status = available; type = Blood specimen with edetic acid (specimen); receivedTime = 2021-11-24


German


Generated Narrative: ServiceRequest mii-exa-molgen-anforderung-2

Profile: MII PR MolGen Anforderung genetischer Test version: 2027.0.0-ballot.1

identifier: https://www.charite.de/fhir/auftragsnummern/gen_test_02

status: Active

intent: Order

category: Laboratory procedure (procedure)

code: Molekulargenetische Diagnose eines Cornelia de Lange-Syndrom (MIM122470),autosomal dominanter Erbgang

subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Krankenaktennummer (use: usual, ))

authoredOn: 2022-03-16

requester: Practitioner Dr. Linda Rubens(official)

reasonCode: Premature infant (finding), Low birth weight infant (disorder), Fetal microcephaly (disorder), Carrier of muscular dystrophy (finding), Long eyelashes

reasonReference:

specimen: Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#specimen_02; status = available; type = Blood specimen with edetic acid (specimen); receivedTime = 2021-11-24


Source1

{
  "resourceType": "ServiceRequest",
  "id": "mii-exa-molgen-anforderung-2",
  "meta": {
    "profile": [
      "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/anforderung-genetischer-test|2027.0.0-ballot.1"
    ]
  },
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "identifier": [
    {
      "system": "https://www.charite.de/fhir/auftragsnummern",
      "value": "gen_test_02"
    }
  ],
  "status": "active",
  "intent": "order",
  "category": [
    {
      "coding": [
        {
          "system": "http://snomed.info/sct",
          "code": "108252007",
          "display": "Laboratory procedure (procedure)"
        }
      ]
    }
  ],
  "code": {
    "coding": [
      {
        "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)"
        }
      ]
    },
    {
      "coding": [
        {
          "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)"
        },
        {
          "system": "http://human-phenotype-ontology.org",
          "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"
    },
    {
      "reference": "Observation/mii-exa-molgen-phenotypic-feature-4"
    }
  ],
  "specimen": [
    {
      "reference": "Specimen/mii-exa-molgen-specimen-2"
    }
  ]
}