Engelsk

The dataset contains molecular phenotype data, e.g. status of IGHV (mutated/unmutated), ZAP70, trisomy 12, deletions on chromosomes 11, 13 and 17 (negative/positive), and basic sociodemographic information, i.e. age, gender and ethnicity of n=186 subjects.

4 Formulär  
pht002523
Beskrivning

pht002523

Unique Participant Identifier
Beskrivning

SUBJID

Datatyp

string

Alias
UMLS CUI [1,1]
C2348585
The main disease(s) for which the participant has been asked to donate a sample for study
Beskrivning

Primary Disease

Datatyp

string

Alias
UMLS CUI [1,1]
C1542147
UMLS CUI [1,2]
C0012634
Participant's gender as Male or Female
Beskrivning

Gender

Datatyp

string

Alias
UMLS CUI [1,1]
C0079399
Participant's age
Beskrivning

Age

Datatyp

text

Måttenheter
  • Years
Alias
UMLS CUI [1,1]
C0001779
Years
IGHV is mutation status of the immunoglobulin heavy chain variable region. When the DNA sequence homology of CLL tumor is less than 98% compared to reference, it is designated as "mutated". Homology >98% is considered "unmutated." IGHV mutation status is a CLL prognosis marker; IGHV mutated status is associated with good prognosis.
Beskrivning

IGHV

Datatyp

text

Alias
UMLS CUI [1,1]
C0449438
UMLS CUI [1,2]
C3829560
UMLS CUI [2,1]
C2697616
UMLS CUI [2,2]
C1265611
UMLS CUI [2,3]
C0162326
UMLS CUI [2,4]
C0023434
UMLS CUI [2,5]
C0026882
UMLS CUI [3,1]
C2697616
UMLS CUI [3,2]
C1265611
UMLS CUI [3,3]
C1298908
UMLS CUI [3,4]
C0026882
UMLS CUI [4,1]
C3829560
UMLS CUI [4,2]
C0023434
UMLS CUI [4,3]
C1514475
UMLS CUI [5,1]
C1333041
UMLS CUI [5,2]
C0278250
ZAP70 is CLL prognosis marker and positive expression is associated with poor prognosis. ZAP70 expression level is measured by flow cytometry and the cutoff score is 24%.
Beskrivning

ZAP70

Datatyp

text

Alias
UMLS CUI [1,1]
C1421567
UMLS CUI [1,2]
C0023434
UMLS CUI [1,3]
C1514475
UMLS CUI [2,1]
C5444885
UMLS CUI [2,2]
C0278252
UMLS CUI [3,1]
C3244092
UMLS CUI [3,2]
C0242485
UMLS CUI [3,3]
C0016263
Trisomy 12 is measured by FISH cytogenetic analysis. Cutoff score is 2%. Trisomy 12 is a neutral prognosis marker.
Beskrivning

Trisomy 12

Datatyp

text

Alias
UMLS CUI [1,1]
C0432408
UMLS CUI [1,2]
C0242485
UMLS CUI [1,3]
C0752095
UMLS CUI [2,1]
C0432408
UMLS CUI [2,2]
C1514475
UMLS CUI [2,3]
C4330821
Del13qhet is measured by FISH cytogenetic analysis of CLL tumor. Del13qhet is chromosome 13q deletion in one allele. Cutoff score is 7%. Del13q is the most common chromosomal abnormalities in CLL and is associated with better prognosis.
Beskrivning

Del13qhet

Datatyp

text

Alias
UMLS CUI [1,1]
C0019425
UMLS CUI [1,2]
C2930913
UMLS CUI [1,3]
C0752095
UMLS CUI [1,4]
C0023434
UMLS CUI [2,1]
C2930913
UMLS CUI [2,2]
C0205214
UMLS CUI [2,3]
C0008625
UMLS CUI [2,4]
C0023434
UMLS CUI [3,1]
C2930913
UMLS CUI [3,2]
C0278250
Del13qhomo is measured by FISH cytogenetic analysis of CLL tumor. Del13qhomo is deletion of the 13q region in two alleles. Cutoff score is 7%. Del13q is the most common chromosomal abnormalities in CLL and is associated with better prognosis.
Beskrivning

Del13qhomo

Datatyp

text

Alias
UMLS CUI [1,1]
C0019904
UMLS CUI [1,2]
C2930913
UMLS CUI [1,3]
C0752095
UMLS CUI [1,4]
C0023434
UMLS CUI [2,1]
C2930913
UMLS CUI [2,2]
C0205214
UMLS CUI [2,3]
C0008625
UMLS CUI [2,4]
C0023434
UMLS CUI [3,1]
C2930913
UMLS CUI [3,2]
C0278250
Del11q is measured by FISH cytogenetic analysis of CLL tumor, and is associated with poor prognosis. Cutoff score is 5%.
Beskrivning

Del11q

Datatyp

text

Alias
UMLS CUI [1,1]
C0008628
UMLS CUI [1,2]
C0796366
UMLS CUI [2,1]
C0278252
Del17p is measured by FISH cytogenetic analysis of CLL tumor. The deleted region includes TP53, and is associated with poor prognosis. Cutoff score is 8%.
Beskrivning

Del17p

Datatyp

text

Alias
UMLS CUI [1,1]
C3683846
UMLS CUI [1,2]
C0332257
UMLS CUI [1,3]
C4524826
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Similar models

The dataset contains molecular phenotype data, e.g. status of IGHV (mutated/unmutated), ZAP70, trisomy 12, deletions on chromosomes 11, 13 and 17 (negative/positive), and basic sociodemographic information, i.e. age, gender and ethnicity of n=186 subjects.

4 Formulär
Name
Typ
Description | Question | Decode (Coded Value)
Datatyp
Alias
Item Group
pht002523
SUBJID
Item
Unique Participant Identifier
string
C2348585 (UMLS CUI [1,1])
Item
The main disease(s) for which the participant has been asked to donate a sample for study
string
C1542147 (UMLS CUI [1,1])
C0012634 (UMLS CUI [1,2])
Primary Disease
Code List
The main disease(s) for which the participant has been asked to donate a sample for study
CL Item
Head and Neck Cancer (Head and Neck Cancer)
C0278996 (UMLS CUI [1,1])
Item
Participant's gender as Male or Female
string
C0079399 (UMLS CUI [1,1])
Gender
Code List
Participant's gender as Male or Female
CL Item
Female (Female)
C0086287 (UMLS CUI [1,1])
CL Item
Male (Male)
C0086582 (UMLS CUI [1,1])
CL Item
Not Reported (Not Reported)
C0439673 (UMLS CUI [1,1])
Age
Item
Participant's age
text
C0001779 (UMLS CUI [1,1])
Item
IGHV is mutation status of the immunoglobulin heavy chain variable region. When the DNA sequence homology of CLL tumor is less than 98% compared to reference, it is designated as "mutated". Homology >98% is considered "unmutated." IGHV mutation status is a CLL prognosis marker; IGHV mutated status is associated with good prognosis.
text
C0449438 (UMLS CUI [1,1])
C3829560 (UMLS CUI [1,2])
C2697616 (UMLS CUI [2,1])
C1265611 (UMLS CUI [2,2])
C0162326 (UMLS CUI [2,3])
C0023434 (UMLS CUI [2,4])
C0026882 (UMLS CUI [2,5])
C2697616 (UMLS CUI [3,1])
C1265611 (UMLS CUI [3,2])
C1298908 (UMLS CUI [3,3])
C0026882 (UMLS CUI [3,4])
C3829560 (UMLS CUI [4,1])
C0023434 (UMLS CUI [4,2])
C1514475 (UMLS CUI [4,3])
C1333041 (UMLS CUI [5,1])
C0278250 (UMLS CUI [5,2])
IGHV
Code List
IGHV is mutation status of the immunoglobulin heavy chain variable region. When the DNA sequence homology of CLL tumor is less than 98% compared to reference, it is designated as "mutated". Homology >98% is considered "unmutated." IGHV mutation status is a CLL prognosis marker; IGHV mutated status is associated with good prognosis.
CL Item
Unmutated (0)
C1298908 (UMLS CUI [1,1])
C0026882 (UMLS CUI [1,2])
CL Item
Mutated (1)
C0026882 (UMLS CUI [1,1])
CL Item
Not Reported (Not Reported)
C0439673 (UMLS CUI [1,1])
Item
ZAP70 is CLL prognosis marker and positive expression is associated with poor prognosis. ZAP70 expression level is measured by flow cytometry and the cutoff score is 24%.
text
C1421567 (UMLS CUI [1,1])
C0023434 (UMLS CUI [1,2])
C1514475 (UMLS CUI [1,3])
C5444885 (UMLS CUI [2,1])
C0278252 (UMLS CUI [2,2])
C3244092 (UMLS CUI [3,1])
C0242485 (UMLS CUI [3,2])
C0016263 (UMLS CUI [3,3])
ZAP70
Code List
ZAP70 is CLL prognosis marker and positive expression is associated with poor prognosis. ZAP70 expression level is measured by flow cytometry and the cutoff score is 24%.
CL Item
Negative (0)
C0205160 (UMLS CUI [1,1])
CL Item
Positive (1)
C1446409 (UMLS CUI [1,1])
CL Item
Not Reported (Not Reported)
C0439673 (UMLS CUI [1,1])
Item
Trisomy 12 is measured by FISH cytogenetic analysis. Cutoff score is 2%. Trisomy 12 is a neutral prognosis marker.
text
C0432408 (UMLS CUI [1,1])
C0242485 (UMLS CUI [1,2])
C0752095 (UMLS CUI [1,3])
C0432408 (UMLS CUI [2,1])
C1514475 (UMLS CUI [2,2])
C4330821 (UMLS CUI [2,3])
Trisomy 12
Code List
Trisomy 12 is measured by FISH cytogenetic analysis. Cutoff score is 2%. Trisomy 12 is a neutral prognosis marker.
CL Item
Negative (0)
C0205160 (UMLS CUI [1,1])
CL Item
Positive (1)
C1446409 (UMLS CUI [1,1])
Item
Del13qhet is measured by FISH cytogenetic analysis of CLL tumor. Del13qhet is chromosome 13q deletion in one allele. Cutoff score is 7%. Del13q is the most common chromosomal abnormalities in CLL and is associated with better prognosis.
text
C0019425 (UMLS CUI [1,1])
C2930913 (UMLS CUI [1,2])
C0752095 (UMLS CUI [1,3])
C0023434 (UMLS CUI [1,4])
C2930913 (UMLS CUI [2,1])
C0205214 (UMLS CUI [2,2])
C0008625 (UMLS CUI [2,3])
C0023434 (UMLS CUI [2,4])
C2930913 (UMLS CUI [3,1])
C0278250 (UMLS CUI [3,2])
Del13qhet
Code List
Del13qhet is measured by FISH cytogenetic analysis of CLL tumor. Del13qhet is chromosome 13q deletion in one allele. Cutoff score is 7%. Del13q is the most common chromosomal abnormalities in CLL and is associated with better prognosis.
CL Item
Negative (0)
CL Item
Positive (1)
Item
Del13qhomo is measured by FISH cytogenetic analysis of CLL tumor. Del13qhomo is deletion of the 13q region in two alleles. Cutoff score is 7%. Del13q is the most common chromosomal abnormalities in CLL and is associated with better prognosis.
text
C0019904 (UMLS CUI [1,1])
C2930913 (UMLS CUI [1,2])
C0752095 (UMLS CUI [1,3])
C0023434 (UMLS CUI [1,4])
C2930913 (UMLS CUI [2,1])
C0205214 (UMLS CUI [2,2])
C0008625 (UMLS CUI [2,3])
C0023434 (UMLS CUI [2,4])
C2930913 (UMLS CUI [3,1])
C0278250 (UMLS CUI [3,2])
Del13qhomo
Code List
Del13qhomo is measured by FISH cytogenetic analysis of CLL tumor. Del13qhomo is deletion of the 13q region in two alleles. Cutoff score is 7%. Del13q is the most common chromosomal abnormalities in CLL and is associated with better prognosis.
CL Item
Negative (0)
C0205160 (UMLS CUI [1,1])
CL Item
Positive (1)
C1446409 (UMLS CUI [1,1])
Item
Del11q is measured by FISH cytogenetic analysis of CLL tumor, and is associated with poor prognosis. Cutoff score is 5%.
text
C0008628 (UMLS CUI [1,1])
C0796366 (UMLS CUI [1,2])
C0278252 (UMLS CUI [2,1])
Del11q
Code List
Del11q is measured by FISH cytogenetic analysis of CLL tumor, and is associated with poor prognosis. Cutoff score is 5%.
CL Item
Negative (0)
C0205160 (UMLS CUI [1,1])
CL Item
Positive (1)
C1446409 (UMLS CUI [1,1])
Item
Del17p is measured by FISH cytogenetic analysis of CLL tumor. The deleted region includes TP53, and is associated with poor prognosis. Cutoff score is 8%.
text
C3683846 (UMLS CUI [1,1])
C0332257 (UMLS CUI [1,2])
C4524826 (UMLS CUI [1,3])
Del17p
Code List
Del17p is measured by FISH cytogenetic analysis of CLL tumor. The deleted region includes TP53, and is associated with poor prognosis. Cutoff score is 8%.
CL Item
Negative (0)
C0205160 (UMLS CUI [1,1])
CL Item
Positive (1)
C1446409 (UMLS CUI [1,1])
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