English
Generated Narrative: Patient mii-exa-molgen-patient-2
Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))
| Deceased: | false | ||
| Other Id: | Gesetzliche Krankenversicherung/Z900211002 (use: official, ) | ||
| Contact Detail | Anna-Louisa-Karsch Str. 2 Berlin DE-BE 10178 DE | ||
English
Generated Narrative: DiagnosticReport mii-exa-molgen-befundbericht-2
Profiles: MII PR MolGen Molekulargenetischer Befundbericht version: 2027.0.0-ballot.1, Genomic Report version: 3.0.0
| Subject | Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, )) |
| Performer | Practitioner Dr. Daniel Schmidt(official) |
Report Details
| Code | Value | Flags | Relevant Time |
| Diagnostic Implication | Final | 2022-03-16 | |
| Genetic variant assessment | Present | Final | 2022-03-16 |
Nachweis der pathogenen Variante c.2207del p.(Pro736Glnfs*58) (heterozygot) im NIPBL-Gen.
English
Generated Narrative: ServiceRequest mii-exa-molgen-anforderung-2
Profile: MII PR MolGen Anforderung genetischer Test version: 2027.0.0-ballot.1
identifier: https://www.charite.de/fhir/auftragsnummern/gen_test_02
status: Active
intent: Order
category: Laboratory procedure (procedure)
code: Molekulargenetische Diagnose eines Cornelia de Lange-Syndrom (MIM122470),autosomal dominanter Erbgang
subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))
authoredOn: 2022-03-16
requester: Practitioner Dr. Linda Rubens(official)
reasonCode: Premature infant (finding), Low birth weight infant (disorder), Fetal microcephaly (disorder), Carrier of muscular dystrophy (finding), Long eyelashes
reasonReference:
English
Generated Narrative: ChargeItem mii-exa-molgen-chargeitem-ebm-21
status: Billable
code: Postnatale Mutationssuche zum Nachweis oder Ausschluss einer krankheitsrelevanten oder krankheitsauslösenden konstitutionellen genomischen Mutation
subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))
quantity: 72
English
Generated Narrative: ChargeItem mii-exa-molgen-chargeitem-ebm-22
status: Billable
code: Gezielter Nachweis oder Ausschluss von krankheitsrelevanten oder krankheitsauslösenden großen Deletionen und/oder Duplikationen
subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))
quantity: 6
English
Generated Narrative: ChargeItem mii-exa-molgen-chargeitem-ebm-23
status: Billable
code: Zuschlag für Gemeinkosten und die wissenschaftliche ärztliche Beurteilung und Befundung komplexer genetischer Analysen im individuellen klinischen Kontext bei seltenen Erkrankungen
subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))
quantity: 1
English
Generated Narrative: ChargeItem mii-exa-molgen-chargeitem-ebm-24
status: Billable
code: Grundpauschale humangenetische in-vitro-Diagnostik bei Probeneinsendung
subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))
quantity: 1
English
Generated Narrative: Specimen mii-exa-molgen-specimen-2
identifier: https://www.charite.de/fhir/sid/bioproben/specimen_02
status: Available
type: Blood specimen with edetic acid (specimen)
subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))
receivedTime: 2021-11-24
| Collected[x] |
| 2021-11-23 |
English
Generated Narrative: Observation mii-exa-molgen-diagnostische-implikation-2
Profiles: MII PR MolGen Diagnostische Implikation version: 2027.0.0-ballot.1, Diagnostic Implication version: 3.0.0
Related artifact: No display for RelatedArtifact (type: citation; citation: Richards et al., Genet Med. 2015; 17:405-24; url: https://doi.org/10.1038/gim.2015.30)
status: Final
category: Laboratory, Genetics
code: Diagnostic Implication
subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))
effective: 2022-03-16
performer: Practitioner Dr. Daniel Schmidt(official)
derivedFrom: Observation Genetic variant assessment
component
code: Conclusion Text
value: Nachweis einer pathogenen Variante im NIPBL-Gen in heterozygoter Form.
component
code: Genetic variation clinical significance [Imp]
value: Pathogenic
component
code: Condition Inheritance
value: Autosomal dominant inheritance
component
code: Associated phenotype
value: De Lange syndrome (disorder)
English
Generated Narrative: Observation mii-exa-molgen-variante-2
Profiles: MII PR MolGen Variante version: 2027.0.0-ballot.1, Variant version: 3.0.0
basedOn: ServiceRequest Molecular genetic test (procedure)
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))
effective: 2022-03-16
value: Present
method: Sequencing
device: Device: status = active; manufacturer = Illumina
component
code: Gene studied [ID]
value: NIPBL
component
code: Transcript reference sequence [ID]
value: NM_133433.4
component
code: DNA region name [Identifier]
value: Exon #10
component
code: DNA change (c.HGVS)
value: NM_133433.4:c.2207del
component
code: Amino acid change (pHGVS)
value: p.(Pro736Glnfs*58)
component
code: Allelic state
value: Heterozygous
component
code: DNA change type
value: Deletion
component
code: Cytogenetic (chromosome) location
value: 5p13.2
component
code: Discrete genetic variant
value: 1076298
English
Generated Narrative: Condition mii-exa-molgen-bundle-befund-2-nipbl-condition-lab
Profile: MII PR Diagnose Condition
clinicalStatus: Active
verificationStatus: Provisional
code: Angeborene Fehlbildungssyndrome, die vorwiegend mit Kleinwuchs einhergehen
subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))
recordedDate: 2022-03-05 10:49:00+0100