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Genetic Diagnostics Performed

5 forms  
Genetic Diagnostics Performed
Description

Genetic Diagnostics Performed

Genetical diagnostics performed?
Description

Genetical diagnostics performed?

Data type

boolean

Alias
UMLS CUI [1,1]
C0314603
UMLS CUI [1,2]
C0430022
UMLS CUI [1,3]
C0884358
If yes: Date of genetical diagnostics
Description

If yes: Date of genetical diagnostics

Data type

date

Alias
UMLS CUI [1,1]
C0011008
UMLS CUI [1,2]
C0314603
UMLS CUI [1,3]
C0430022
If yes: positive genetic finding for hereditary paraganglioma?
Description

If yes: positive genetic finding for hereditary paraganglioma?

Data type

boolean

Alias
UMLS CUI [1,1]
C1446409
UMLS CUI [1,2]
C0243095
UMLS CUI [1,3]
C0019247
UMLS CUI [1,4]
C0030421
Type of genetical diagnostics
Description

Type of genetical diagnostics

Data type

text

Alias
UMLS CUI [1,1]
C0332307
UMLS CUI [1,2]
C0314603
UMLS CUI [1,3]
C0430022
UMLS CUI [1,4]
C0200378
SDH genes investigated?
Description

SDH genes investigated?

Data type

boolean

Alias
UMLS CUI [1,1]
C1292732
UMLS CUI [1,2]
C1709046
Affected gene
Description

Affected gene

Data type

text

Alias
UMLS CUI [1,1]
C0449642
UMLS CUI [1,2]
C0017337
Mutation/Variation type
Description

Mutation/Variation type

Data type

text

Alias
UMLS CUI [1,1]
C0026882
UMLS CUI [1,2]
C0205419
UMLS CUI [1,3]
C0332307
Pathogenicity of genetic variant
Description

Pathogenicity of genetic variant

Data type

text

Alias
UMLS CUI [1,1]
C0030657
UMLS CUI [1,2]
C0314603
UMLS CUI [1,3]
C0205419
Other genetical findings?
Description

Other genetical findings?

Data type

boolean

Alias
UMLS CUI [1,1]
C0205394
UMLS CUI [1,2]
C0314603
UMLS CUI [1,3]
C0243095
If yes: specify other findings
Description

If yes: specify other findings

Data type

text

Alias
UMLS CUI [1,1]
C1521902
UMLS CUI [1,2]
C0205394
UMLS CUI [1,3]
C0243095
Other family members genetically tested?
Description

Other family members genetically tested?

Data type

boolean

Alias
UMLS CUI [1,1]
C0205394
UMLS CUI [1,2]
C0086282
UMLS CUI [1,3]
C0679560
Number of other genetically positive individuals
Description

Number of other genetically positive individuals

Data type

integer

Alias
UMLS CUI [1,1]
C0750480
UMLS CUI [1,2]
C0679560
UMLS CUI [1,3]
C1446409
UMLS CUI [1,4]
C0237401
Genetic family tree available?
Description

Genetic family tree available?

Data type

boolean

Alias
UMLS CUI [1,1]
C0470187
UMLS CUI [1,2]
C1148543
Genetical counselling of the family performed?
Description

Genetical counselling of the family performed?

Data type

boolean

Alias
UMLS CUI [1,1]
C0314603
UMLS CUI [1,2]
C0542296
UMLS CUI [1,3]
C0150577
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Similar models

Genetic Diagnostics Performed

5 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Genetic Diagnostics Performed
Genetical diagnostics performed?
Item
Genetical diagnostics performed?
boolean
C0314603 (UMLS CUI [1,1])
C0430022 (UMLS CUI [1,2])
C0884358 (UMLS CUI [1,3])
If yes: Date of genetical diagnostics
Item
If yes: Date of genetical diagnostics
date
C0011008 (UMLS CUI [1,1])
C0314603 (UMLS CUI [1,2])
C0430022 (UMLS CUI [1,3])
If yes: positive genetic finding for hereditary paraganglioma?
Item
If yes: positive genetic finding for hereditary paraganglioma?
boolean
C1446409 (UMLS CUI [1,1])
C0243095 (UMLS CUI [1,2])
C0019247 (UMLS CUI [1,3])
C0030421 (UMLS CUI [1,4])
Item
Type of genetical diagnostics
text
C0332307 (UMLS CUI [1,1])
C0314603 (UMLS CUI [1,2])
C0430022 (UMLS CUI [1,3])
C0200378 (UMLS CUI [1,4])
CL.7
Code List
Type of genetical diagnostics
CL Item
WES (0)
CL Item
WGS (1)
CL Item
gene panel analysis (2)
CL Item
other (3)
C0332307 (UMLS CUI [1,1])
C0314603 (UMLS CUI [1,2])
C0430022 (UMLS CUI [1,3])
C0200378 (UMLS CUI [1,4])
SDH genes investigated?
Item
SDH genes investigated?
boolean
C1292732 (UMLS CUI [1,1])
C1709046 (UMLS CUI [1,2])
Affected gene
Item
Affected gene
text
C0449642 (UMLS CUI [1,1])
C0017337 (UMLS CUI [1,2])
Mutation/Variation type
Item
Mutation/Variation type
text
C0026882 (UMLS CUI [1,1])
C0205419 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,3])
Pathogenicity of genetic variant
Item
Pathogenicity of genetic variant
text
C0030657 (UMLS CUI [1,1])
C0314603 (UMLS CUI [1,2])
C0205419 (UMLS CUI [1,3])
Other genetical findings?
Item
Other genetical findings?
boolean
C0205394 (UMLS CUI [1,1])
C0314603 (UMLS CUI [1,2])
C0243095 (UMLS CUI [1,3])
If yes: specify other findings
Item
If yes: specify other findings
text
C1521902 (UMLS CUI [1,1])
C0205394 (UMLS CUI [1,2])
C0243095 (UMLS CUI [1,3])
Other family members genetically tested?
Item
Other family members genetically tested?
boolean
C0205394 (UMLS CUI [1,1])
C0086282 (UMLS CUI [1,2])
C0679560 (UMLS CUI [1,3])
Number of other genetically positive individuals
Item
Number of other genetically positive individuals
integer
C0750480 (UMLS CUI [1,1])
C0679560 (UMLS CUI [1,2])
C1446409 (UMLS CUI [1,3])
C0237401 (UMLS CUI [1,4])
Genetic family tree available?
Item
Genetic family tree available?
boolean
C0470187 (UMLS CUI [1,1])
C1148543 (UMLS CUI [1,2])
Genetical counselling of the family performed?
Item
Genetical counselling of the family performed?
boolean
C0314603 (UMLS CUI [1,1])
C0542296 (UMLS CUI [1,2])
C0150577 (UMLS CUI [1,3])
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