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Diagnosis of Metabolism

1 Formulär  
Patientendaten
Beskrivning

Patientendaten

Name
Beskrivning

Patient name

Datatyp

text

Alias
UMLS CUI [1]
C1299487
Geburtsdatum
Beskrivning

Date of birth

Datatyp

date

Alias
UMLS CUI [1]
C0421451
Diagnose:
Beskrivning

Diagnosis

Datatyp

integer

Alias
UMLS CUI [1]
C0011900
Medikamente:
Beskrivning

Medication

Datatyp

integer

Alias
UMLS CUI [1]
C0013227
Parenterale Ernährung
Beskrivning

Parenteral Nutrition

Datatyp

boolean

Alias
UMLS CUI [1]
C0030547
Fragestellung:
Beskrivning

Suspected diagnosis

Datatyp

integer

Alias
UMLS CUI [1]
C0332147
Sonderanforderungen
Beskrivning

Sonderanforderungen

Alias
UMLS CUI-1
C0370003
DNA – Analytik
Beskrivning

DNA Analytic

Datatyp

integer

Alias
UMLS CUI [1]
C1880241
Fibroblastenkultur
Beskrivning

Fibroblast specimen

Datatyp

integer

Alias
UMLS CUI [1]
C0444248
Lysosomale Enzyme
Beskrivning

Lysosomale Enzyme

Alias
UMLS CUI-1
C0024369
Arylsulfatase A
Beskrivning

Arylsulfatase A

Datatyp

integer

Alias
UMLS CUI [1]
C0003940
L-Iduronidase
Beskrivning

L-Iduronidase

Datatyp

integer

Alias
UMLS CUI [1]
C0020818
Fucosidase
Beskrivning

Fucosidase

Datatyp

integer

Alias
UMLS CUI [1]
C0016787
Glucuronidase
Beskrivning

Glucuronidase

Datatyp

integer

Alias
UMLS CUI [1]
C0201907
Alpha-galactosidase
Beskrivning

Alpha-galactosidase

Datatyp

integer

Alias
UMLS CUI [1]
C0002268
beta-Galactosidase
Beskrivning

beta-Galactosidase

Datatyp

integer

Alias
UMLS CUI [1]
C0005220
Alpha-glucosidase
Beskrivning

Alpha-glucosidase

Datatyp

text

Alias
UMLS CUI [1]
C0002272
Glucocerebrosidase
Beskrivning

Glucocerebrosidase

Datatyp

integer

Alias
UMLS CUI [1]
C0017768
Chitotriosidase
Beskrivning

Chitotriosidase

Datatyp

integer

Alias
UMLS CUI [1]
C1504352
Hexosaminidase A
Beskrivning

Hexosaminidase A

Datatyp

integer

Alias
UMLS CUI [1]
C0162330
Hexosaminidase A, B
Beskrivning

Hexosaminidase A, B

Datatyp

integer

Alias
UMLS CUI [1]
C0544543
Alpha-mannosidase
Beskrivning

Alpha-mannosidase

Datatyp

integer

Alias
UMLS CUI [1]
C0051350
Beta-mannosidase
Beskrivning

Beta-mannosidase

Datatyp

integer

Alias
UMLS CUI [1]
C0053413
Sphingomyelinase
Beskrivning

Sphingomyelinase

Datatyp

integer

Alias
UMLS CUI [1]
C0037903
Information zur molekulargenetischen Untersuchung
Beskrivning

Information zur molekulargenetischen Untersuchung

Einwilligungserklärung zur molekulargenetischen Untersuchung
Beskrivning

Informed consent

Datatyp

boolean

Alias
UMLS CUI [1]
C0021430
molekulargenetischen Untersuchung
Beskrivning

Molecular genetic test

Datatyp

integer

Alias
UMLS CUI [1]
C1320549
Unterschrift
Beskrivning

Signautre

Datatyp

integer

Alias
UMLS CUI [1]
C1519316
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Similar models

Diagnosis of Metabolism

1 Formulär
Name
Typ
Description | Question | Decode (Coded Value)
Datatyp
Alias
Item Group
Patientendaten
Patient name
Item
Name
text
C1299487 (UMLS CUI [1])
Date of birth
Item
Geburtsdatum
date
C0421451 (UMLS CUI [1])
Diagnosis
Item
Diagnose:
integer
C0011900 (UMLS CUI [1])
Medication
Item
Medikamente:
integer
C0013227 (UMLS CUI [1])
Parenteral Nutrition
Item
Parenterale Ernährung
boolean
C0030547 (UMLS CUI [1])
Suspected diagnosis
Item
Fragestellung:
integer
C0332147 (UMLS CUI [1])
Item Group
Sonderanforderungen
C0370003 (UMLS CUI-1)
DNA Analytic
Item
DNA – Analytik
integer
C1880241 (UMLS CUI [1])
Fibroblast specimen
Item
Fibroblastenkultur
integer
C0444248 (UMLS CUI [1])
Item Group
Lysosomale Enzyme
C0024369 (UMLS CUI-1)
Item
Arylsulfatase A
integer
C0003940 (UMLS CUI [1])
Arylsulfatase A
Code List
Arylsulfatase A
CL Item
Metachromatische Leukodystrophie (1)
C0003940 (UMLS CUI-1)
Item
L-Iduronidase
integer
C0020818 (UMLS CUI [1])
L-Iduronidase
Code List
L-Iduronidase
CL Item
Erkrankung: MPS-I (1)
C0023786 (UMLS CUI-1)
Item
Fucosidase
integer
C0016787 (UMLS CUI [1])
Fucosidase
Code List
Fucosidase
CL Item
Fucosidose (1)
C0016788 (UMLS CUI-1)
Item
Glucuronidase
integer
C0201907 (UMLS CUI [1])
Glucuronidase
Code List
Glucuronidase
CL Item
Mucopolysaccharidosis VII (1)
C0085132 (UMLS CUI-1)
Item
Alpha-galactosidase
integer
C0002268 (UMLS CUI [1])
Alpha-galactosidase
Code List
Alpha-galactosidase
CL Item
M. Fabry (1)
C0002986 (UMLS CUI-1)
Item
beta-Galactosidase
integer
C0005220 (UMLS CUI [1])
beta-Galactosidase
Code List
beta-Galactosidase
CL Item
Galaktosialidose, Mukopolysaccharidose IV B (1)
C0026707 (UMLS CUI-1)
Item
Alpha-glucosidase
text
C0002272 (UMLS CUI [1])
Alpha-glucosidase
Code List
Alpha-glucosidase
CL Item
Glykogenose Typ II (M. Pompe) (Glykogenose Typ II (M. Pompe))
Item
Glucocerebrosidase
integer
C0017768 (UMLS CUI [1])
Glucocerebrosidase
Code List
Glucocerebrosidase
CL Item
M. Gaucher (1)
C0017205 (UMLS CUI-1)
Item
Chitotriosidase
integer
C1504352 (UMLS CUI [1])
Chitotriosidase
Code List
Chitotriosidase
CL Item
Niemann-Pick (1)
C0028064 (UMLS CUI-1)
Item
Hexosaminidase A
integer
C0162330 (UMLS CUI [1])
Hexosaminidase A
Code List
Hexosaminidase A
CL Item
M. Tay-Sachs (1)
C0039373 (UMLS CUI-1)
Item
Hexosaminidase A, B
integer
C0544543 (UMLS CUI [1])
Hexosaminidase A, B
Code List
Hexosaminidase A, B
CL Item
M. Sandhoff (1)
C0036161 (UMLS CUI-1)
Item
Alpha-mannosidase
integer
C0051350 (UMLS CUI [1])
Alpha-mannosidase
Code List
Alpha-mannosidase
CL Item
Alpha-mannosidase (1)
C0051350 (UMLS CUI-1)
Item
Beta-mannosidase
integer
C0053413 (UMLS CUI [1])
Beta-mannosidase
Code List
Beta-mannosidase
CL Item
Beta-mannosidase (1)
C0053413 (UMLS CUI-1)
Item
Sphingomyelinase
integer
C0037903 (UMLS CUI [1])
Sphingomyelinase
Code List
Sphingomyelinase
CL Item
Niemann-Pick A/B (1)
C0028064 (UMLS CUI-1)
Item Group
Information zur molekulargenetischen Untersuchung
Informed consent
Item
Einwilligungserklärung zur molekulargenetischen Untersuchung
boolean
C0021430 (UMLS CUI [1])
Molecular genetic test
Item
molekulargenetischen Untersuchung
integer
C1320549 (UMLS CUI [1])
Signautre
Item
Unterschrift
integer
C1519316 (UMLS CUI [1])
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