English
Generated Narrative: Condition mii-exa-seltene-condition-sma-suspected
Profile: MII PR SE Clinical Diagnosis version: 2027.0.0-ballot
Condition Asserted Date: 2024-07-18
clinicalStatus: Active
verificationStatus: Unconfirmed
category: Encounter Diagnosis
code: Verdacht auf Spinale Muskelatrophie
recordedDate: 2024-07-18
| Code | Detail |
| Positives Neugeborenenscreening | Observation Spinal muscular atrophy newborn screening panel |
note:
Verdacht beim Neugeborenenscreening gestellt - SMN1 Exon 7 nicht nachweisbar
English
Generated Narrative: Condition mii-exa-seltene-condition-sma-clinical
Profile: MII PR SE Clinical Diagnosis version: 2027.0.0-ballot
Condition Asserted Date: 2024-07-22
clinicalStatus: Active
verificationStatus: Confirmed
category: Encounter Diagnosis
code: Infantile spinale Muskelatrophie, Typ I [Typ Werdnig-Hoffmann]
onset: 2024-07-01
recordedDate: 2024-07-22
| Code | Detail |
| Klinische Präsentation | Observation Troponin T.cardiac [Mass/volume] in Serum or Plasma |
note:
Klinische Diagnose basierend auf typischer Präsentation: Neonatale Hypotonie, fehlende Muskeleigenreflexe, erhöhtes Troponin
English
Generated Narrative: Condition mii-exa-seltene-condition-sma-genetic
Profile: MII PR SE Genetic Diagnosis version: 2027.0.0-ballot
Condition Asserted Date: 2024-07-26
clinicalStatus: Active
verificationStatus: Confirmed
category: Genetic disease
code: Spinal muscular atrophy, type I
onset: 2024-07-01
recordedDate: 2024-07-26
evidence
code: Genetic finding
detail:
evidence
code: Genetic test
note:
0 Kopien des SMN1-Gens, 2 Kopien des SMN2-Gens - krankheitsursächlich. Genetische Diagnose existiert parallel zur klinischen Diagnose.
English
Generated Narrative: FamilyMemberHistory mii-exa-seltene-family-history-001
Profile: MII PR SE Familienanamnese version: 2027.0.0-ballot
MII EX SE Von SE betroffen: Unknown
status: Completed
date: 2024-07-22
relationship: Great grandmother
| Code |
| Unbekannte Muskelerkrankung |
English
Generated Narrative: Observation mii-exa-seltene-observation-sma-screening
status: Final
category: Laboratory
code: Spinal muscular atrophy newborn screening panel
effective: 2024-07-18
value: Detected
interpretation: Abnormal
note:
Positives SMA-Screening. Konfirmatorische Diagnostik empfohlen.
component
code: Spinal muscular atrophy newborn screen interpretation
value: Hinweis auf SMA - SMN1 Exon 7 Deletion nachgewiesen
component
code: SMN1 gene [Cycle Threshold #] in DBS by NAA with probe detection
value: 0 Ct (Details: UCUM code1 = '1')
interpretation: Abnormal
English
Generated Narrative: Observation mii-exa-seltene-variant-smn1-001
status: Final
category: Laboratory
code: Genetic analysis master panel
effective: 2024-07-26
value: Positive
interpretation: Positive
note:
Homozygote Deletion des SMN1-Gens, krankheitsursächlich für SMA
component
code: Gene studied [ID]
value: SMN1
component
code: Human reference sequence assembly version
value: GRCh38
component
code: Allelic state
value: Homozygous
component
code: Copy Number
value: 0 copies
English
Generated Narrative: Observation mii-exa-seltene-variant-smn2-001
status: Final
category: Laboratory
code: Genetic analysis master panel
effective: 2024-07-26
note:
2 Kopien des SMN2-Gens, Modifikator des Phänotyps
component
code: Gene studied [ID]
value: SMN2
component
code: Copy Number
value: 2 copies
English
Generated Narrative: Procedure mii-exa-seltene-procedure-gentherapy-001
status: Completed
category: Therapeutic procedure
code: Gentherapie mit Onasemnogene abeparvovec (Zolgensma)
performed: 2024-07-29
reasonReference: Condition Spinal muscular atrophy, type I
note:
Gentherapeutikum ohne Komplikationen verabreicht, vorherige Gabe von Prednisolon
English
Generated Narrative: Observation mii-exa-seltene-observation-troponin-004
status: Final
category: Laboratory
code: Troponin T.cardiac [Mass/volume] in Serum or Plasma
effective: 2024-08-12
value: 106 ng/L (Details: UCUM codeng/L = 'ng/L')
interpretation: High
note:
Troponin T weiter erhöht, bereits prä-therapeutisch erhöht
English
Generated Narrative: ClinicalImpression mii-exa-seltene-clinical-impression-erstvorstellung
Profile: MII Profile SE Clinical Impression version: 2027.0.0-ballot
status: Completed
effective: 2024-07-22
date: 2024-07-22
problem: Condition Werdnig-Hoffmann disease
investigation
code: Familienanamnese
investigation
code: Labordiagnostik
item: Observation Troponin T.cardiac [Mass/volume] in Serum or Plasma
summary: Neugeborenes mit V.a. SMA aus Neugeborenenscreening. Familienanamnese zeigt unklare Muskelerkrankung der Urgroßmutter. Troponin T bereits erhöht (92 ng/l).
finding
itemReference: Condition Infantile spinale Muskelatrophie, Typ I [Typ Werdnig-Hoffmann]
finding
itemReference: Condition Spinal muscular atrophy, type I
finding
itemCodeableConcept: Troponin above reference range
itemReference: Observation Troponin T.cardiac [Mass/volume] in Serum or Plasma
prognosisCodeableConcept: Guarded prognosis
note: ,
Klinische Untersuchung gemäß SMA-Diagnoseprotokoll. Blutentnahme für Genetik veranlasst.
Klinisches Bild vereinbar mit SMA Typ 1. Molekulargenetische Bestätigung ausstehend. Eltern über Therapieoptionen informiert.
English
Generated Narrative: ClinicalImpression mii-exa-seltene-clinical-impression-nachsorge
Profile: MII Profile SE Clinical Impression version: 2027.0.0-ballot
status: Completed
effective: 2024-08-12
date: 2024-08-12
problem:
summary: Erste Nachsorge 14 Tage nach Gentherapie. Klinisch stabil. Troponin T weiter erhöht (106 ng/l), war jedoch bereits prätherapeutisch erhöht.
finding
itemCodeableConcept: Troponin above reference range
itemReference: Observation Troponin T.cardiac [Mass/volume] in Serum or Plasma
basis: Troponin-Verlauf: 22.07: 92 ng/l, 28.07: 58 ng/l, 01.08: 57 ng/l, 12.08: 106 ng/l
finding
itemCodeableConcept: Alanine aminotransferase level within reference range
basis: ALT normwertig
finding
itemCodeableConcept: Aspartate aminotransferase/serum glutamic oxaloacetic transaminase level within reference range
basis: AST normwertig
finding
itemCodeableConcept: Platelet count normal
basis: Thrombozytenzahl normwertig
prognosisCodeableConcept: Guarded prognosis
note: ,
Standardisierte Nachsorgeuntersuchung nach Gentherapie gemäß Zentrumsprotokoll
Troponin-Erhöhung präexistent, nicht therapieassoziiert. Gentherapie gut vertragen. Weiterführung der Prednisolon-Therapie. Nächste Kontrolle in 4 Wochen.
English
Generated Narrative: Encounter mii-exa-seltene-encounter-screening-001
status: Finished
class: ActCode: AMB (ambulatory)
type: Neonatal screening (procedure)
period: 2024-07-18 --> 2024-07-18
reasonCode: Neugeborenenscreening
English
Generated Narrative: Encounter mii-exa-seltene-encounter-ambulant-001
status: Finished
class: ActCode: AMB (ambulatory)
type: Follow-up encounter
period: 2024-07-22 --> 2024-07-22
| Condition | Use |
| Condition Infantile spinale Muskelatrophie, Typ I [Typ Werdnig-Hoffmann] | Admission diagnosis |
English
Generated Narrative: Encounter mii-exa-seltene-encounter-stationaer-001
status: Finished
class: ActCode: IMP (inpatient encounter)
type: Hospital admission
period: 2024-07-29 --> 2024-07-30
| Condition | Use |
| Condition Spinal muscular atrophy, type I | Chief complaint |
English
Generated Narrative: Encounter mii-exa-seltene-encounter-nachsorge-001
status: Finished
class: ActCode: AMB (ambulatory)
type: Follow-up encounter
period: 2024-08-12 --> 2024-08-12
| Condition |
| Condition Spinal muscular atrophy, type I |