MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot - Germany

This page is part of the MII Implementation Guide Seltene Erkrankungen (v2027.0.0-ballot: 2027 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

: Phenylketonurie - Genetische Diagnose

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{
  "resourceType" : "Condition",
  "id" : "mii-exa-seltene-condition-pku-diagnosis",
  "meta" : {
    "profile" : [
      🔗 "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-genetic-diagnosis|2027.0.0-ballot"
    ]
  },
  "language" : "de",
  "text" : {
    "status" : "generated",
    "div" : "<div xml:lang=\"de\" lang=\"de\"><hr/><p><b>German</b></p><hr/><p class=\"res-header-id\"><b>Generated Narrative: Condition mii-exa-seltene-condition-pku-diagnosis</b></p><a name=\"de-mii-exa-seltene-condition-pku-diagnosis\"> </a><a name=\"de-hcmii-exa-seltene-condition-pku-diagnosis\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-mii-pr-seltene-genetic-diagnosis.html\">MII PR SE Genetic Diagnosis</a> version: 2027.0.0-ballot</p></div><p><b>clinicalStatus</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/condition-clinical active}\">Active</span></p><p><b>verificationStatus</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/condition-ver-status confirmed}\">Confirmed</span></p><p><b>category</b>: <span title=\"Codes:{http://snomed.info/sct 782964007}\">Genetic disease</span></p><p><b>code</b>: <span title=\"Codes:{http://omim.org 261600}, {http://snomed.info/sct 7573000}, {http://www.orpha.net 716}\">Phenylketonurie</span></p><p><b>subject</b>: <a href=\"Patient-mii-exa-seltene-patient.html\">Max Mustermann (official) Male, DoB: 1990-01-01 ( http://test-krankenhaus.de/fhir/sid/patienten#12345)</a></p><p><b>recordedDate</b>: 2024-01-01</p><h3>Evidences</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Detail</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org 81247-9}\">PAH-Gen Mutation c.1222C&gt;T (p.R408W)</span></td><td><a href=\"Observation-mii-exa-seltene-molgen-variant-pah-pku.html\">Observation Genetic variant assessment</a></td></tr></table><p><b>note</b>: </p><blockquote><div><p>Klassische PKU mit PAH-Gen Mutation c.1222C&gt;T, erfordert lebenslange phenylalaninarme Diät</p>\n</div></blockquote></div>"
  },
  "clinicalStatus" : {
    "coding" : [
      {
        "system" : "http://terminology.hl7.org/CodeSystem/condition-clinical",
        "code" : "active"
      }
    ]
  },
  "verificationStatus" : {
    "coding" : [
      {
        "system" : "http://terminology.hl7.org/CodeSystem/condition-ver-status",
        "code" : "confirmed"
      }
    ]
  },
  "category" : [
    {
      "coding" : [
        {
          "system" : "http://snomed.info/sct",
          "code" : "782964007",
          "display" : "Genetic disease"
        }
      ]
    }
  ],
  "code" : {
    "coding" : [
      {
        "system" : "http://omim.org",
        "version" : "2024",
        "code" : "261600",
        "display" : "Phenylketonuria"
      },
      {
        "system" : "http://snomed.info/sct",
        "code" : "7573000",
        "display" : "Classical phenylketonuria"
      },
      {
        "system" : "http://www.orpha.net",
        "code" : "716",
        "display" : "Phenylketonuria"
      }
    ],
    "text" : "Phenylketonurie"
  },
  "subject" : {
    🔗 "reference" : "Patient/mii-exa-seltene-patient"
  },
  "recordedDate" : "2024-01-01",
  "evidence" : [
    {
      "code" : [
        {
          "coding" : [
            {
              "system" : "http://loinc.org",
              "code" : "81247-9",
              "display" : "Master HL7 genetic variant reporting panel"
            }
          ],
          "text" : "PAH-Gen Mutation c.1222C>T (p.R408W)"
        }
      ],
      "detail" : [
        {
          🔗 "reference" : "Observation/mii-exa-seltene-molgen-variant-pah-pku"
        }
      ]
    }
  ],
  "note" : [
    {
      "text" : "Klassische PKU mit PAH-Gen Mutation c.1222C>T, erfordert lebenslange phenylalaninarme Diät"
    }
  ]
}