MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot -
Germany
MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot -
Germany
MII IG Kerndatensatz-Modul Seltene Erkrankungen - Downloaded Version 2027.0.0-ballot See the Directory of published versions
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{
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],
"note" : [
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"text" : "Marfan-Syndrom klinisch diagnostiziert basierend auf kardialen Befunden, Skelettmerkmalen und ophthalmologischer Manifestation"
}
]
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],
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"text" : "FBN1-Mutation c.3217G>A (p.Gly1073Arg) nachgewiesen, krankheitsursächlich. Genetische Diagnose existiert parallel zur klinischen Diagnose."
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"effectiveDateTime" : "2024-12-15",
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},
"valueCodeableConcept" : {
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},
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]
},
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},
{
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"code" : "54885007",
"display" : "Extraction of cataract"
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],
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"performedDateTime" : "2024-11-12",
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],
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},
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"text" : "Aortenwurzelersatz (David-Operation)"
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],
"text" : "Losartan 50mg"
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"effectiveDateTime" : "2024-12-15",
"reasonReference" : [
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],
"note" : [
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],
"dosage" : [
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},
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"text" : {
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"status" : "completed",
"subject" : {
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},
"encounter" : {
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"effectiveDateTime" : "2024-12-15",
"date" : "2024-12-15",
"problem" : [
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{
🔗 "reference" : "Condition/mii-exa-seltene-condition-marfan-clinical"
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{
🔗 "reference" : "Condition/mii-exa-seltene-condition-marfan-genetic"
}
],
"investigation" : [
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]
}
],
"summary" : "19-jähriger Patient mit Z.n. Katarakt-OP im ZSE vorstellig. Kardiologische Mitbeurteilung zeigt: Aortenwurzeldilatation (48mm), AKI Grad II, MKI Grad I. Skelettale Merkmale (Hochwuchs 2,13m, Beinlängendifferenz) bestätigen Marfan-Syndrom. Klinische und genetische Diagnose gesichert.",
"finding" : [
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},
{
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🔗 "reference" : "Condition/mii-exa-seltene-condition-marfan-genetic"
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},
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},
{
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]
},
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{
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},
"itemReference" : {
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},
{
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"display" : "Tall stature"
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]
},
"itemReference" : {
🔗 "reference" : "Observation/mii-exa-seltene-observation-height-001"
}
},
{
"itemCodeableConcept" : {
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"code" : "707738004",
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]
},
"itemReference" : {
🔗 "reference" : "Observation/mii-exa-seltene-observation-leg-asymmetry"
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],
"prognosisCodeableConcept" : [
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"code" : "67334001",
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]
}
],
"note" : [
{
"text" : "Katarakt in jungem Alter war Anlass für ZSE-Konsultation. Marfan-Syndrom klinisch und genetisch (FBN1-Mutation) bestätigt. OP-Indikation für Aortenwurzelersatz durch Kardiologie gestellt. Medikamentöse Therapie mit Losartan eingeleitet."
},
{
"text" : "Multidisziplinäre Betreuung im ZSE etabliert. Regelmäßige kardiologische Kontrollen alle 6 Monate. Genetische Beratung für Familienplanung empfohlen."
}
]
},
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"display" : "Ophthalmic examination and evaluation"
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},
"period" : {
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"end" : "2024-10-15"
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"diagnosis" : [
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"end" : "2024-11-12T15:00:00Z"
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},
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},
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"text" : "Elektive Aortenwurzelersatz-Operation bei Marfan-Syndrom"
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}