ID

44118

Description

Common Data Elements Myeloid Leukemia (MDS, AML, CML) for use in clinical routine and clinical trial documentation. https://www.ncbi.nlm.nih.gov/pubmed/27577388

Link

https://www.ncbi.nlm.nih.gov/pubmed/27577388

Keywords

  1. 7/27/17 7/27/17 - Julian Varghese
  2. 10/23/17 10/23/17 - Julian Varghese
  3. 1/16/18 1/16/18 - Julian Varghese
  4. 4/21/18 4/21/18 - Julian Varghese
  5. 4/21/18 4/21/18 - Julian Varghese
  6. 9/20/21 9/20/21 -
Copyright Holder

Varghese, Julian

Uploaded on

September 20, 2021

DOI

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License

Creative Commons BY-NC 3.0

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26672_Common Data Elements Myeloid Leukemia (MDS AML CML)

Lab: Molecular Genetics

Lab: Molecular Genetics
Description

Lab: Molecular Genetics

Alias
UMLS CUI-1
C0086345
Molecular Genetic Analysis
Description

Molecular Genetic Analysis

Data type

text

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

RUNX1/RUNX1T1 Fusion

Data type

boolean

Alias
UMLS CUI [1]
C1851466
HLA-Typing
Description

Multiple answers: Yes

Data type

text

Alias
UMLS CUI [1]
C0242318
CEBPA Mutation
Description

Multiple answers: Yes

Data type

text

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

BCR-ABL International Scale Percent Ratio of Fusion Transcripts

Data type

integer

Alias
UMLS CUI [1]
C1835417
KIT Mutation
Description

KIT Mutation

Data type

boolean

Alias
UMLS CUI [1]
C1416655
RAS Mutation
Description

RAS Mutation

Data type

boolean

Alias
UMLS CUI [1]
C0034678
TP 53 Mutation
Description

TP 53 Mutation

Data type

boolean

Alias
UMLS CUI [1]
C0079419
TET2 Mutation
Description

TET2 Mutation

Data type

boolean

Alias
UMLS CUI [1]
C1825692
IDH1 Mutation
Description

IDH1 Mutation

Data type

boolean

Alias
UMLS CUI [1]
C1415876
ERG Mutation
Description

ERG Mutation

Data type

boolean

Alias
UMLS CUI [1]
C0599295
MN1 Mutation
Description

MN1 Mutation

Data type

boolean

Alias
UMLS CUI [1]
C1417217
EVI1 overexpression
Description

EVI1 overexpression

Data type

boolean

Alias
UMLS CUI [1]
C0082512
BAALC overexpression
Description

BAALC overexpression

Data type

boolean

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

CBFB-MYH11 Fusion

Data type

boolean

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

PML - RARA Fusion

Data type

boolean

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

MLL  - MLLT3 Fusion

Data type

boolean

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

GATA2 - EVI1 Fusion

Data type

boolean

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

DEK - NUP214 Fusion

Data type

boolean

Alias
UMLS CUI [1]
C1861917
MLL rearranged
Description

MLL rearranged

Data type

boolean

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

del(5q)

Data type

boolean

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

Loss of Chromosome 7

Data type

boolean

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

abnl(17p)

Data type

boolean

Alias
UMLS CUI [1]
C0796349
NPM1 Mutation
Description

NPM1 Mutation

Data type

boolean

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

FLT Internal Tandem Duplication (ITD)

Data type

boolean

Alias
UMLS CUI [1]
C2348499
FLT3 point mutation
Description

FLT3 point mutation

Data type

boolean

Alias
UMLS CUI [1]
C2348501
Other mutations
Description

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.

Data type

text

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

Similar models

Lab: Molecular Genetics

Name
Type
Description | Question | Decode (Coded Value)
Data type
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])
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])
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])
Code List
Other mutations
CL Item
[Dynamic codelist] ([Dynamic codelist])

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