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Lab: Molecular Genetics

13 Formulare  
Lab: Molecular Genetics
Beschreibung

Lab: Molecular Genetics

Alias
UMLS CUI-1
C0086345
Molecular Genetic Analysis
Beschreibung

Molecular Genetic Analysis

Datentyp

text

Alias
UMLS CUI [1]
C1513380
RUNX1/RUNX1T1 Fusion
Beschreibung

RUNX1/RUNX1T1 Fusion

Datentyp

boolean

Alias
UMLS CUI [1]
C1851466
HLA-Typing
Beschreibung

Multiple answers: Yes

Datentyp

text

Alias
UMLS CUI [1]
C0242318
CEBPA Mutation
Beschreibung

Multiple answers: Yes

Datentyp

text

Alias
UMLS CUI [1]
C1413322
BCR-ABL International Scale Percent Ratio of Fusion Transcripts
Beschreibung

BCR-ABL International Scale Percent Ratio of Fusion Transcripts

Datentyp

integer

Alias
UMLS CUI [1]
C1835417
KIT Mutation
Beschreibung

KIT Mutation

Datentyp

boolean

Alias
UMLS CUI [1]
C1416655
RAS Mutation
Beschreibung

RAS Mutation

Datentyp

boolean

Alias
UMLS CUI [1]
C0034678
TP 53 Mutation
Beschreibung

TP 53 Mutation

Datentyp

boolean

Alias
UMLS CUI [1]
C0079419
TET2 Mutation
Beschreibung

TET2 Mutation

Datentyp

boolean

Alias
UMLS CUI [1]
C1825692
IDH1 Mutation
Beschreibung

IDH1 Mutation

Datentyp

boolean

Alias
UMLS CUI [1]
C1415876
ERG Mutation
Beschreibung

ERG Mutation

Datentyp

boolean

Alias
UMLS CUI [1]
C0599295
MN1 Mutation
Beschreibung

MN1 Mutation

Datentyp

boolean

Alias
UMLS CUI [1]
C1417217
EVI1 overexpression
Beschreibung

EVI1 overexpression

Datentyp

boolean

Alias
UMLS CUI [1]
C0082512
BAALC overexpression
Beschreibung

BAALC overexpression

Datentyp

boolean

Alias
UMLS CUI [1]
C1422571
CBFB-MYH11 Fusion
Beschreibung

CBFB-MYH11 Fusion

Datentyp

boolean

Alias
UMLS CUI [1]
C3276534
PML - RARA Fusion
Beschreibung

PML - RARA Fusion

Datentyp

boolean

Alias
UMLS CUI [1]
C3887967
MLL  - MLLT3 Fusion
Beschreibung

MLL  - MLLT3 Fusion

Datentyp

boolean

Alias
UMLS CUI [1]
C1518129
GATA2 - EVI1 Fusion
Beschreibung

GATA2 - EVI1 Fusion

Datentyp

boolean

Alias
UMLS CUI [1]
C0082512
DEK - NUP214 Fusion
Beschreibung

DEK - NUP214 Fusion

Datentyp

boolean

Alias
UMLS CUI [1]
C1861917
MLL rearranged
Beschreibung

MLL rearranged

Datentyp

boolean

Alias
UMLS CUI [1]
C2826048
del(5q)
Beschreibung

del(5q)

Datentyp

boolean

Alias
UMLS CUI [1]
C152146
Loss of Chromosome 7
Beschreibung

Loss of Chromosome 7

Datentyp

boolean

Alias
UMLS CUI [1]
C1517989
abnl(17p)
Beschreibung

abnl(17p)

Datentyp

boolean

Alias
UMLS CUI [1]
C0796349
NPM1 Mutation
Beschreibung

NPM1 Mutation

Datentyp

boolean

Alias
UMLS CUI [1]
C2826175
FLT Internal Tandem Duplication (ITD)
Beschreibung

FLT Internal Tandem Duplication (ITD)

Datentyp

boolean

Alias
UMLS CUI [1]
C2348499
FLT3 point mutation
Beschreibung

FLT3 point mutation

Datentyp

boolean

Alias
UMLS CUI [1]
C2348501
Other mutations
Beschreibung

Multiple answers: Yes Further mutations found by molecular genetics relevant to disease management that are not listed above and contain qualitative and quantitative attributes about the mutation.

Datentyp

text

Alias
UMLS CUI [1,1]
C0026882
UMLS CUI [1,2]
C0205394
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Ähnliche Modelle

Lab: Molecular Genetics

13 Formulare
Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
Lab: Molecular Genetics
C0086345 (UMLS CUI-1)
Molecular Genetic Analysis
Item
Molecular Genetic Analysis
text
C1513380 (UMLS CUI [1])
RUNX1/RUNX1T1 Fusion
Item
RUNX1/RUNX1T1 Fusion
boolean
C1851466 (UMLS CUI [1])
Item
HLA-Typing
text
C0242318 (UMLS CUI [1])
HLA-Typing
Code List
HLA-Typing
CL Item
HLA-A (HLA-A)
CL Item
HLA-B (HLA-B)
CL Item
HLA-C (HLA-C)
CL Item
HLA-DR (HLA-DR)
CL Item
HLA-DQ (HLA-DQ)
Item
CEBPA Mutation
text
C1413322 (UMLS CUI [1])
CEBPA Mutation
Code List
CEBPA Mutation
CL Item
single mutation (single mutation)
CL Item
double mutation (double mutation)
CL Item
none (none)
BCR-ABL International Scale Percent Ratio of Fusion Transcripts
Item
BCR-ABL International Scale Percent Ratio of Fusion Transcripts
integer
C1835417 (UMLS CUI [1])
KIT Mutation
Item
KIT Mutation
boolean
C1416655 (UMLS CUI [1])
RAS Mutation
Item
RAS Mutation
boolean
C0034678 (UMLS CUI [1])
TP 53 Mutation
Item
TP 53 Mutation
boolean
C0079419 (UMLS CUI [1])
TET2 Mutation
Item
TET2 Mutation
boolean
C1825692 (UMLS CUI [1])
IDH1 Mutation
Item
IDH1 Mutation
boolean
C1415876 (UMLS CUI [1])
ERG Mutation
Item
ERG Mutation
boolean
C0599295 (UMLS CUI [1])
MN1 Mutation
Item
MN1 Mutation
boolean
C1417217 (UMLS CUI [1])
EVI1 overexpression
Item
EVI1 overexpression
boolean
C0082512 (UMLS CUI [1])
BAALC overexpression
Item
BAALC overexpression
boolean
C1422571 (UMLS CUI [1])
CBFB-MYH11 Fusion
Item
CBFB-MYH11 Fusion
boolean
C3276534 (UMLS CUI [1])
PML - RARA Fusion
Item
PML - RARA Fusion
boolean
C3887967 (UMLS CUI [1])
MLL  - MLLT3 Fusion
Item
MLL  - MLLT3 Fusion
boolean
C1518129 (UMLS CUI [1])
GATA2 - EVI1 Fusion
Item
GATA2 - EVI1 Fusion
boolean
C0082512 (UMLS CUI [1])
DEK - NUP214 Fusion
Item
DEK - NUP214 Fusion
boolean
C1861917 (UMLS CUI [1])
MLL rearranged
Item
MLL rearranged
boolean
C2826048 (UMLS CUI [1])
del(5q)
Item
del(5q)
boolean
C152146 (UMLS CUI [1])
Loss of Chromosome 7
Item
Loss of Chromosome 7
boolean
C1517989 (UMLS CUI [1])
abnl(17p)
Item
abnl(17p)
boolean
C0796349 (UMLS CUI [1])
NPM1 Mutation
Item
NPM1 Mutation
boolean
C2826175 (UMLS CUI [1])
FLT Internal Tandem Duplication (ITD)
Item
FLT Internal Tandem Duplication (ITD)
boolean
C2348499 (UMLS CUI [1])
FLT3 point mutation
Item
FLT3 point mutation
boolean
C2348501 (UMLS CUI [1])
Item
Other mutations
text
C0026882 (UMLS CUI [1,1])
C0205394 (UMLS CUI [1,2])
Other mutations
Code List
Other mutations
CL Item
[Dynamic codelist] ([Dynamic codelist])
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