MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot -
Germany
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
{
"resourceType" : "ClinicalImpression",
"id" : "mii-exa-seltene-clinical-impression-erstvorstellung",
"meta" : {
"profile" : [
🔗 "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-impression|2027.0.0-ballot"
]
},
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><p class=\"res-header-id\"><b>Generated Narrative: ClinicalImpression mii-exa-seltene-clinical-impression-erstvorstellung</b></p><a name=\"mii-exa-seltene-clinical-impression-erstvorstellung\"> </a><a name=\"hcmii-exa-seltene-clinical-impression-erstvorstellung\"> </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-clinical-impression.html\">MII Profile SE Clinical Impression</a> version: 2027.0.0-ballot</p></div><p><b>status</b>: Completed</p><p><b>subject</b>: <a href=\"Patient-mii-exa-seltene-patient-sma-001.html\">Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)</a></p><p><b>encounter</b>: <a href=\"Encounter-mii-exa-seltene-encounter-ambulant-001.html\">Encounter: status = finished; class = ambulatory (ActCode#AMB); type = Follow-up encounter; period = 2024-07-22 --> 2024-07-22</a></p><p><b>effective</b>: 2024-07-22</p><p><b>date</b>: 2024-07-22</p><p><b>problem</b>: <a href=\"Condition-mii-exa-seltene-condition-sma-suspected.html\">Condition Werdnig-Hoffmann disease</a></p><blockquote><p><b>investigation</b></p><p><b>code</b>: <span title=\"Codes:\">Familienanamnese</span></p><p><b>item</b>: <a href=\"FamilyMemberHistory-mii-exa-seltene-family-history-001.html\">FamilyMemberHistory: extension = Unknown; status = completed; date = 2024-07-22; relationship = Great grandmother</a></p></blockquote><blockquote><p><b>investigation</b></p><p><b>code</b>: <span title=\"Codes:\">Labordiagnostik</span></p><p><b>item</b>: <a href=\"Observation-mii-exa-seltene-observation-troponin-001.html\">Observation Troponin T.cardiac [Mass/volume] in Serum or Plasma</a></p></blockquote><p><b>summary</b>: Neugeborenes mit V.a. SMA aus Neugeborenenscreening. Familienanamnese zeigt unklare Muskelerkrankung der Urgroßmutter. Troponin T bereits erhöht (92 ng/l).</p><blockquote><p><b>finding</b></p><p><b>itemReference</b>: <a href=\"Condition-mii-exa-seltene-condition-sma-clinical.html\">Condition Infantile spinale Muskelatrophie, Typ I [Typ Werdnig-Hoffmann]</a></p></blockquote><blockquote><p><b>finding</b></p><p><b>itemReference</b>: <a href=\"Condition-mii-exa-seltene-condition-sma-genetic.html\">Condition Spinal muscular atrophy, type I</a></p></blockquote><blockquote><p><b>finding</b></p><p><b>itemCodeableConcept</b>: <span title=\"Codes:{http://snomed.info/sct 1363512008}\">Troponin above reference range</span></p><p><b>itemReference</b>: <a href=\"Observation-mii-exa-seltene-observation-troponin-001.html\">Observation Troponin T.cardiac [Mass/volume] in Serum or Plasma</a></p></blockquote><p><b>prognosisCodeableConcept</b>: <span title=\"Codes:{http://snomed.info/sct 67334001}\">Guarded prognosis</span></p><p><b>note</b>: , </p><blockquote><div><p>Klinische Untersuchung gemäß SMA-Diagnoseprotokoll. Blutentnahme für Genetik veranlasst.</p>\n</div></blockquote><blockquote><div><p>Klinisches Bild vereinbar mit SMA Typ 1. Molekulargenetische Bestätigung ausstehend. Eltern über Therapieoptionen informiert.</p>\n</div></blockquote></div>"
},
"status" : "completed",
"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient-sma-001"
},
"encounter" : {
🔗 "reference" : "Encounter/mii-exa-seltene-encounter-ambulant-001"
},
"effectiveDateTime" : "2024-07-22",
"date" : "2024-07-22",
"problem" : [
{
🔗 "reference" : "Condition/mii-exa-seltene-condition-sma-suspected"
}
],
"investigation" : [
{
"code" : {
"text" : "Familienanamnese"
},
"item" : [
{
🔗 "reference" : "FamilyMemberHistory/mii-exa-seltene-family-history-001"
}
]
},
{
"code" : {
"text" : "Labordiagnostik"
},
"item" : [
{
🔗 "reference" : "Observation/mii-exa-seltene-observation-troponin-001"
}
]
}
],
"summary" : "Neugeborenes mit V.a. SMA aus Neugeborenenscreening. Familienanamnese zeigt unklare Muskelerkrankung der Urgroßmutter. Troponin T bereits erhöht (92 ng/l).",
"finding" : [
{
"itemReference" : {
🔗 "reference" : "Condition/mii-exa-seltene-condition-sma-clinical"
}
},
{
"itemReference" : {
🔗 "reference" : "Condition/mii-exa-seltene-condition-sma-genetic"
}
},
{
"itemCodeableConcept" : {
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "1363512008",
"display" : "Troponin above reference range"
}
]
},
"itemReference" : {
🔗 "reference" : "Observation/mii-exa-seltene-observation-troponin-001"
}
}
],
"prognosisCodeableConcept" : [
{
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "67334001",
"display" : "Guarded prognosis"
}
]
}
],
"note" : [
{
"text" : "Klinische Untersuchung gemäß SMA-Diagnoseprotokoll. Blutentnahme für Genetik veranlasst."
},
{
"text" : "Klinisches Bild vereinbar mit SMA Typ 1. Molekulargenetische Bestätigung ausstehend. Eltern über Therapieoptionen informiert."
}
]
}