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" : "Condition",
"id" : "mii-exa-seltene-example-noonan-clinical-diagnosis",
"meta" : {
"profile" : [
🔗 "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-diagnosis|2027.0.0-ballot"
]
},
"language" : "de",
"text" : {
"status" : "extensions",
"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-example-noonan-clinical-diagnosis</b></p><a name=\"de-mii-exa-seltene-example-noonan-clinical-diagnosis\"> </a><a name=\"de-hcmii-exa-seltene-example-noonan-clinical-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-clinical-diagnosis.html\">MII PR SE Clinical Diagnosis</a> version: 2027.0.0-ballot</p></div><p><b>Condition Asserted Date</b>: 2024-10-20</p><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 provisional}\">Provisional</span></p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/condition-category encounter-diagnosis}\">Encounter Diagnosis</span></p><p><b>code</b>: <span title=\"Codes:{http://fhir.de/CodeSystem/bfarm/icd-10-gm Q87.1}, {http://snomed.info/sct 205824006}, {http://www.orpha.net 648}\">Noonan-Syndrom</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>: 2024-10-20</p><blockquote><p><b>evidence</b></p><p><b>code</b>: <span title=\"Codes:{http://human-phenotype-ontology.org HP:0000316}\">Hypertelorism</span></p><p><b>detail</b>: <a href=\"Observation-mii-exa-seltene-hypertelorism.html\">Observation Hypertelorism</a></p></blockquote><blockquote><p><b>evidence</b></p><p><b>code</b>: <span title=\"Codes:{http://human-phenotype-ontology.org HP:0000463}\">Anteverted nares</span></p><p><b>detail</b>: <a href=\"Observation-mii-exa-seltene-anteverted-nares.html\">Observation Anteverted nares</a></p></blockquote><blockquote><p><b>evidence</b></p><p><b>code</b>: <span title=\"Codes:{http://human-phenotype-ontology.org HP:0001629}\">Ventricular septal defect</span></p><p><b>detail</b>: <a href=\"Observation-mii-exa-seltene-vsd.html\">Observation Ventricular septal defect</a></p></blockquote><blockquote><p><b>evidence</b></p><p><b>code</b>: <span title=\"Codes:{http://human-phenotype-ontology.org HP:0001004}\">Lymphedema</span></p><p><b>detail</b>: <a href=\"Observation-mii-exa-seltene-lymphedema.html\">Observation Lymphedema</a></p></blockquote></div>"
},
"extension" : [
{
"url" : "http://hl7.org/fhir/StructureDefinition/condition-assertedDate",
"valueDateTime" : "2024-10-20"
}
],
"clinicalStatus" : {
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/condition-clinical",
"code" : "active"
}
]
},
"verificationStatus" : {
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/condition-ver-status",
"code" : "provisional"
}
]
},
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/condition-category",
"code" : "encounter-diagnosis"
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],
"code" : {
"coding" : [
{
"system" : "http://fhir.de/CodeSystem/bfarm/icd-10-gm",
"version" : "2024",
"code" : "Q87.1",
"display" : "Angeborene Fehlbildungssyndrome, die vorwiegend mit Kleinwuchs einhergehen"
},
{
"system" : "http://snomed.info/sct",
"code" : "205824006",
"display" : "Noonan syndrome"
},
{
"system" : "http://www.orpha.net",
"code" : "648",
"display" : "Noonan syndrome"
}
],
"text" : "Noonan-Syndrom"
},
"subject" : {
🔗 "reference" : "Patient/mii-exa-seltene-patient"
},
"recordedDate" : "2024-10-20",
"evidence" : [
{
"code" : [
{
"coding" : [
{
"system" : "http://human-phenotype-ontology.org",
"code" : "HP:0000316",
"display" : "Hypertelorism"
}
]
}
],
"detail" : [
{
🔗 "reference" : "Observation/mii-exa-seltene-hypertelorism"
}
]
},
{
"code" : [
{
"coding" : [
{
"system" : "http://human-phenotype-ontology.org",
"code" : "HP:0000463",
"display" : "Anteverted nares"
}
]
}
],
"detail" : [
{
🔗 "reference" : "Observation/mii-exa-seltene-anteverted-nares"
}
]
},
{
"code" : [
{
"coding" : [
{
"system" : "http://human-phenotype-ontology.org",
"code" : "HP:0001629",
"display" : "Ventricular septal defect"
}
]
}
],
"detail" : [
{
🔗 "reference" : "Observation/mii-exa-seltene-vsd"
}
]
},
{
"code" : [
{
"coding" : [
{
"system" : "http://human-phenotype-ontology.org",
"code" : "HP:0001004",
"display" : "Lymphedema"
}
]
}
],
"detail" : [
{
🔗 "reference" : "Observation/mii-exa-seltene-lymphedema"
}
]
}
]
}