English

Genetic diagnostics performed

7 forms  
.
Description

.

Date of genetic diagnostics
Description

I.86

Data type

date

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

I.87

Data type

text

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

I.88

Data type

text

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

I.89

Data type

text

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

I.90

Data type

text

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

I.91

Data type

text

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

I.92

Data type

text

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

I.93

Data type

integer

Alias
UMLS CUI [1,1]
C0522476
UMLS CUI [1,2]
C0237753
Back to the top of the page

Similar models

Genetic diagnostics performed

7 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
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])
Back to the top of the page