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Genetic Diagnostics Performed

5 Formulários  
Genetic Diagnostics Performed
Descrição

Genetic Diagnostics Performed

Genetical diagnostics performed?
Descrição

Genetical diagnostics performed?

Tipo de dados

boolean

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

If yes: Date of genetical diagnostics

Tipo de dados

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?
Descrição

If yes: positive genetic finding for hereditary paraganglioma?

Tipo de dados

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
Descrição

Type of genetical diagnostics

Tipo de dados

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?
Descrição

SDH genes investigated?

Tipo de dados

boolean

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

Affected gene

Tipo de dados

text

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

Mutation/Variation type

Tipo de dados

text

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

Pathogenicity of genetic variant

Tipo de dados

text

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

Other genetical findings?

Tipo de dados

boolean

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

If yes: specify other findings

Tipo de dados

text

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

Other family members genetically tested?

Tipo de dados

boolean

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

Number of other genetically positive individuals

Tipo de dados

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?
Descrição

Genetic family tree available?

Tipo de dados

boolean

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

Genetical counselling of the family performed?

Tipo de dados

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 Formulários
Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de dados
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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