Englisch

Genetic diagnostics performed

7 Formulare  
.
Beschreibung

.

Date of genetic diagnostics
Beschreibung

I.86

Datentyp

date

Alias
UMLS CUI [1,1]
C0011008
UMLS CUI [1,2]
C0314603
UMLS CUI [1,3]
C0430022
genetical findings
Beschreibung

I.87

Datentyp

text

Alias
UMLS CUI [1,1]
C0243095
UMLS CUI [1,2]
C0017399
Type of genetical diagnosis
Beschreibung

I.88

Datentyp

text

Alias
UMLS CUI [1,1]
C0332307
UMLS CUI [1,2]
C0011900
UMLS CUI [1,3]
C0017399
Genetic result classification
Beschreibung

I.89

Datentyp

text

Alias
UMLS CUI [1,1]
C0243095
UMLS CUI [1,2]
C0017399
UMLS CUI [1,3]
C0008902
please specify genetic result
Beschreibung

I.90

Datentyp

text

Alias
UMLS CUI [1,1]
C0243095
UMLS CUI [1,2]
C0017399
UMLS CUI [1,3]
C2348235
Genetic family tree available
Beschreibung

I.91

Datentyp

text

Alias
UMLS CUI [1,1]
C0470187
UMLS CUI [1,2]
C0030761
Other family members with genetical findings
Beschreibung

I.92

Datentyp

text

Alias
UMLS CUI [1,1]
C0243095
UMLS CUI [1,2]
C0017399
UMLS CUI [1,3]
C0086282
Number of affected individuals
Beschreibung

I.93

Datentyp

integer

Alias
UMLS CUI [1,1]
C0522476
UMLS CUI [1,2]
C0237753
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Ähnliche Modelle

Genetic diagnostics performed

7 Formulare
Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
.
I.86
Item
Date of genetic diagnostics
date
C0011008 (UMLS CUI [1,1])
C0314603 (UMLS CUI [1,2])
C0430022 (UMLS CUI [1,3])
I.87
Item
genetical findings
text
C0243095 (UMLS CUI [1,1])
C0017399 (UMLS CUI [1,2])
Item
Type of genetical diagnosis
text
C0332307 (UMLS CUI [1,1])
C0011900 (UMLS CUI [1,2])
C0017399 (UMLS CUI [1,3])
CL.7
Code List
Type of genetical diagnosis
CL Item
WES (1)
CL Item
WGS (2)
CL Item
gene panel analysis (3)
CL Item
single gene testing (4)
CL Item
other (5)
C0205394 (UMLS CUI [1,1])
CL Item
none (6)
C0549184 (UMLS CUI [1,1])
Item
Genetic result classification
text
C0243095 (UMLS CUI [1,1])
C0017399 (UMLS CUI [1,2])
C0008902 (UMLS CUI [1,3])
CL.8
Code List
Genetic result classification
CL Item
pathogenic mutation/ variation (1)
CL Item
likely pathogenic mutation/ variation (2)
CL Item
variant of unknown significance (VUS) (3)
CL Item
likely benign variant (4)
CL Item
benign variant (5)
I.90
Item
please specify genetic result
text
C0243095 (UMLS CUI [1,1])
C0017399 (UMLS CUI [1,2])
C2348235 (UMLS CUI [1,3])
Item
Genetic family tree available
text
C0470187 (UMLS CUI [1,1])
C0030761 (UMLS CUI [1,2])
CL.9
Code List
Genetic family tree available
CL Item
yes (1)
CL Item
no (2)
Item
Other family members with genetical findings
text
C0243095 (UMLS CUI [1,1])
C0017399 (UMLS CUI [1,2])
C0086282 (UMLS CUI [1,3])
CL.10
Code List
Other family members with genetical findings
CL Item
yes (1)
CL Item
no (2)
I.93
Item
Number of affected individuals
integer
C0522476 (UMLS CUI [1,1])
C0237753 (UMLS CUI [1,2])
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