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Diagnosis of Metabolism

1 Formulare  
Patient demographics
Beschreibung

Patient demographics

Patient name
Beschreibung

Patient name

Datentyp

text

Alias
UMLS CUI [1]
C1299487
Date of birth
Beschreibung

Date of birth

Datentyp

date

Alias
UMLS CUI [1]
C0421451
Diagnosis
Beschreibung

Diagnosis

Datentyp

integer

Alias
UMLS CUI [1]
C0011900
Medication
Beschreibung

Medication

Datentyp

integer

Alias
UMLS CUI [1]
C0013227
Parenteral Nutrition
Beschreibung

Parenteral Nutrition

Datentyp

boolean

Alias
UMLS CUI [1]
C0030547
Suspected diagnosis
Beschreibung

Suspected diagnosis

Datentyp

integer

Alias
UMLS CUI [1]
C0332147
Specimen
Beschreibung

Specimen

Alias
UMLS CUI-1
C0370003
DNA Analytic
Beschreibung

DNA Analytic

Datentyp

integer

Alias
UMLS CUI [1]
C1880241
Fibroblast specimen
Beschreibung

Fibroblast specimen

Datentyp

integer

Alias
UMLS CUI [1]
C0444248
Lysosomes
Beschreibung

Lysosomes

Alias
UMLS CUI-1
C0024369
Arylsulfatase A
Beschreibung

Arylsulfatase A

Datentyp

integer

Alias
UMLS CUI [1]
C0003940
L-Iduronidase
Beschreibung

L-Iduronidase

Datentyp

integer

Alias
UMLS CUI [1]
C0020818
Fucosidase
Beschreibung

Fucosidase

Datentyp

integer

Alias
UMLS CUI [1]
C0016787
Glucuronidase
Beschreibung

Glucuronidase

Datentyp

integer

Alias
UMLS CUI [1]
C0201907
Alpha-galactosidase
Beschreibung

Alpha-galactosidase

Datentyp

integer

Alias
UMLS CUI [1]
C0002268
beta-Galactosidase
Beschreibung

beta-Galactosidase

Datentyp

integer

Alias
UMLS CUI [1]
C0005220
Alpha-glucosidase
Beschreibung

Alpha-glucosidase

Datentyp

text

Alias
UMLS CUI [1]
C0002272
Glucocerebrosidase
Beschreibung

Glucocerebrosidase

Datentyp

integer

Alias
UMLS CUI [1]
C0017768
Chitotriosidase
Beschreibung

Chitotriosidase

Datentyp

integer

Alias
UMLS CUI [1]
C1504352
Hexosaminidase A
Beschreibung

Hexosaminidase A

Datentyp

integer

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

Hexosaminidase A, B

Datentyp

integer

Alias
UMLS CUI [1]
C0544543
Alpha-mannosidase
Beschreibung

Alpha-mannosidase

Datentyp

integer

Alias
UMLS CUI [1]
C0051350
Beta-mannosidase
Beschreibung

Beta-mannosidase

Datentyp

integer

Alias
UMLS CUI [1]
C0053413
Sphingomyelinase
Beschreibung

Sphingomyelinase

Datentyp

integer

Alias
UMLS CUI [1]
C0037903
Informed consent
Beschreibung

Informed consent

Informed consent
Beschreibung

Informed consent

Datentyp

boolean

Alias
UMLS CUI [1]
C0021430
Molecular genetic test
Beschreibung

Molecular genetic test

Datentyp

integer

Alias
UMLS CUI [1]
C1320549
Signature
Beschreibung

Signautre

Datentyp

integer

Alias
UMLS CUI [1]
C1519316
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Diagnosis of Metabolism

1 Formulare
Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
Patient demographics
Patient name
Item
Patient name
text
C1299487 (UMLS CUI [1])
Date of birth
Item
Date of birth
date
C0421451 (UMLS CUI [1])
Diagnosis
Item
Diagnosis
integer
C0011900 (UMLS CUI [1])
Medication
Item
Medication
integer
C0013227 (UMLS CUI [1])
Parenteral Nutrition
Item
Parenteral Nutrition
boolean
C0030547 (UMLS CUI [1])
Suspected diagnosis
Item
Suspected diagnosis
integer
C0332147 (UMLS CUI [1])
Item Group
Specimen
C0370003 (UMLS CUI-1)
DNA Analytic
Item
DNA Analytic
integer
C1880241 (UMLS CUI [1])
Fibroblast specimen
Item
Fibroblast specimen
integer
C0444248 (UMLS CUI [1])
Item Group
Lysosomes
C0024369 (UMLS CUI-1)
Item
Arylsulfatase A
integer
C0003940 (UMLS CUI [1])
Arylsulfatase A
Code List
Arylsulfatase A
CL Item
illness: Metachromatic leukodystrophy (1)
C0003940 (UMLS CUI-1)
Item
L-Iduronidase
integer
C0020818 (UMLS CUI [1])
L-Iduronidase
Code List
L-Iduronidase
CL Item
Illness: 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
Fabry Disease (1)
C0002986 (UMLS CUI-1)
Item
beta-Galactosidase
integer
C0005220 (UMLS CUI [1])
beta-Galactosidase
Code List
beta-Galactosidase
CL Item
Mucopolysaccharidosis IV (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))
Item
Glucocerebrosidase
integer
C0017768 (UMLS CUI [1])
Glucocerebrosidase
Code List
Glucocerebrosidase
CL Item
Gaucher Disease (1)
C0017205 (UMLS CUI-1)
Item
Chitotriosidase
integer
C1504352 (UMLS CUI [1])
Chitotriosidase
Code List
Chitotriosidase
CL Item
Niemann-Pick Diseases (1)
C0028064 (UMLS CUI-1)
Item
Hexosaminidase A
integer
C0162330 (UMLS CUI [1])
Hexosaminidase A
Code List
Hexosaminidase A
CL Item
Tay-Sachs Disease (1)
C0039373 (UMLS CUI-1)
Item
Hexosaminidase A, B
integer
C0544543 (UMLS CUI [1])
Hexosaminidase A, B
Code List
Hexosaminidase A, B
CL Item
Sandhoff Disease (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 Diseases (1)
C0028064 (UMLS CUI-1)
Item Group
Informed consent
Informed consent
Item
Informed consent
boolean
C0021430 (UMLS CUI [1])
Molecular genetic test
Item
Molecular genetic test
integer
C1320549 (UMLS CUI [1])
Signautre
Item
Signature
integer
C1519316 (UMLS CUI [1])
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