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SET OF COMMON DATA ELEMENTS FOR RARE DISEASES REGISTRATION

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  1. StudyEvent: SET OF COMMON DATA ELEMENTS FOR RARE DISEASES REGISTRATION
    1. SET OF COMMON DATA ELEMENTS FOR RARE DISEASES REGISTRATION
Pseudonym
Description

Pseudonym

Alias
UMLS CUI-1
C0033824
Pseudonym
Description

Patient's pseudonym https://eu-rd-platform.jrc.ec.europa.eu/erdri/eupid-intro

Data type

text

Alias
UMLS CUI [1]
C0033824
Personal information
Description

Personal information

Alias
UMLS CUI-1
C1955348
Date of birth
Description

Patient's date of birth dd/mm/yyyy

Data type

date

Alias
UMLS CUI [1]
C0421451
Sex
Description

Patient's sex at birth

Data type

text

Alias
UMLS CUI [1]
C0079399
Patient status
Description

Patient status

Alias
UMLS CUI-1
C0449437
Patient's status
Description

Patient alive or dead If dead then answer question 3.2 (Date of death)

Data type

integer

Alias
UMLS CUI [1]
C0449437
Date of death
Description

Patient's date of death dd/mm/yyyy

Data type

date

Alias
UMLS CUI [1]
C1148348
Care pathway
Description

Care pathway

Alias
UMLS CUI-1
C0086388
UMLS CUI-2
C0262926
First contact with specialised centre
Description

Date of first contact with specialised centre dd/mm/yyyy

Data type

date

Alias
UMLS CUI [1,1]
C0332158
UMLS CUI [1,2]
C0678236
UMLS CUI [1,3]
C0018704
UMLS CUI [1,4]
C0205435
UMLS CUI [1,5]
C0011008
Disease history
Description

Disease history

Alias
UMLS CUI-1
C0683519
Age at onset
Description

Age at which symptoms/signs first appeared

Data type

text

Alias
UMLS CUI [1]
C0150907
Age at onset (Date)
Description

Date at which symptoms/signs first appeared dd/mm/yyyy

Data type

date

Alias
UMLS CUI [1]
C0574845
Age at diagnosis
Description

Age at which diagnosis was made

Data type

text

Alias
UMLS CUI [1]
C1828181
Age at diagnosis (Date)
Description

Date at which diagnosis was made dd/mm/yyyy

Data type

date

Alias
UMLS CUI [1]
C2316983
Diagnosis
Description

Diagnosis

Alias
UMLS CUI-1
C0011900
Diagnosis of the rare disease: Orpha code (strongly recommended)
Description

Diagnosis retained by the specialised centre (strongly recommended–see http://www.orphadata.org/cgi-bin/inc/product1.inc.php)

Data type

boolean

Alias
UMLS CUI [1,1]
C0008902
UMLS CUI [1,2]
C0678236
Orpha code
Description

Diagnosis retained by the specialised centre

Data type

text

Alias
UMLS CUI [1,1]
C0008902
UMLS CUI [1,2]
C0678236
UMLS CUI [1,3]
C1550350
Diagnosis of the rare disease: Alpha code
Description

Diagnosis retained by the specialised centre

Data type

boolean

Alias
UMLS CUI [1,1]
C0678236
UMLS CUI [1,2]
C0008902
Alpha code
Description

Diagnosis retained by the specialised centre

Data type

text

Alias
UMLS CUI [1,1]
C0678236
UMLS CUI [1,2]
C0008902
UMLS CUI [1,3]
C1550350
Diagnosis of the rare disease: ICD-9
Description

Diagnosis retained by the specialised centre

Data type

boolean

Alias
UMLS CUI [1]
C1137111
ICD-9 Code
Description

Diagnosis retained by the specialised centre

Data type

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C1550350
Diagnosis of the rare disease: ICD-9 CM
Description

Diagnosis retained by the specialised centre

Data type

boolean

Alias
UMLS CUI [1,1]
C0678236
UMLS CUI [1,2]
C1137112
ICD-9-CM code
Description

Diagnosis retained by the specialised centre

Data type

text

Alias
UMLS CUI [1,1]
C1137112
UMLS CUI [1,2]
C1550350
Diagnosis of the rare disease: ICD-10
Description

Diagnosis retained by the specialised centre

Data type

boolean

Alias
UMLS CUI [1,1]
C0678236
UMLS CUI [1,2]
C1137110
ICD-10 Code
Description

Diagnosis retained by the specialised centre

Data type

text

Alias
UMLS CUI [1,1]
C1137110
UMLS CUI [1,2]
C1550350
Genetic diagnosis: International classification of mutations (HGVS) (strongly recommended)
Description

Genetic diagnosis retained by the specialised centre (strongly recommended - see http://www.hgvs.org/)

Data type

boolean

Alias
UMLS CUI [1]
C0596612
UMLS CUI [2,1]
C0026882
UMLS CUI [2,2]
C0008902
International classification of mutations (HGVS) code
Description

Genetic diagnosis retained by the specialised centre (strongly recommended - see http://www.hgvs.org/)

Data type

text

Alias
UMLS CUI [1,1]
C0026882
UMLS CUI [1,2]
C0008902
UMLS CUI [1,3]
C1550350
Genetic diagnosis: HGNC
Description

Genetic diagnosis retained by the specialised centre

Data type

boolean

Alias
UMLS CUI [1]
C0596612
UMLS CUI [2,1]
C3470396
UMLS CUI [2,2]
C0008902
HGNC code
Description

Genetic diagnosis retained by the specialised centre

Data type

text

Alias
UMLS CUI [1,1]
C3470396
UMLS CUI [1,2]
C1550350
Genetic diagnosis: OMIM
Description

Genetic diagnosis retained by the specialised centre

Data type

boolean

Alias
UMLS CUI [1]
C0596612
UMLS CUI [2]
C0950133
OMIM Code
Description

Genetic diagnosis retained by the specialised centre

Data type

text

Alias
UMLS CUI [1,1]
C0950133
UMLS CUI [1,2]
C1550350
Undiagnosed Case: Phenotype (HPO)
Description

How the undiagnosed case is defined

Data type

boolean

Alias
UMLS CUI [1,1]
C1408353
UMLS CUI [1,2]
C0031437
UMLS CUI [2]
C4020635
Phenotype (HPO)
Description

Phenotype (HPO)

Data type

text

Alias
UMLS CUI [1,1]
C1408353
UMLS CUI [1,2]
C0031437
UMLS CUI [2,1]
C4020635
UMLS CUI [2,2]
C0805701
Undiagnosed case: Genotype (HGVS)
Description

How the undiagnosed case is defined

Data type

boolean

Alias
UMLS CUI [1,1]
C1408353
UMLS CUI [1,2]
C0017431
UMLS CUI [2,1]
C0026882
UMLS CUI [2,2]
C0008902
Genotype (HGVS)
Description

Genotype (HGVS)

Data type

text

Alias
UMLS CUI [1]
C0017431
UMLS CUI [2,1]
C0026882
UMLS CUI [2,2]
C0008902
UMLS CUI [2,3]
C1550350
Research
Description

Research

Alias
UMLS CUI-1
C0008972
Agreement to be contacted for research purposes
Description

Patient's permission exists for being contacted for research purposes

Data type

integer

Alias
UMLS CUI [1,1]
C0680240
UMLS CUI [1,2]
C0332158
UMLS CUI [1,3]
C0035168
Consent to the reuse of data
Description

Patient's consent exists for his/her data to be reused for other research purposes

Data type

integer

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C2699072
UMLS CUI [1,3]
C2707520
Biological sample
Description

Patient's biological sample is available for research If Yes answer question 7.4 (Link to biobank)

Data type

integer

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C0470187
Link to Biobank
Description

Biological sample stored in a biobank If appropirate use link: https://directory.bbmri-eric.eu/

Data type

integer

Alias
UMLS CUI [1,1]
C3824747
UMLS CUI [1,2]
C1517892
UMLS CUI [1,3]
C0470187
Link to Biobank
Description

Biological sample stored in a biobank If appropirate use link: https://directory.bbmri-eric.eu/

Data type

text

Alias
UMLS CUI [1,1]
C3824747
UMLS CUI [1,2]
C1517892
Disability
Description

Disability

Alias
UMLS CUI-1
C0231170
Classification for functioning/disability: Disability profile
Description

Patient's disability profile according to International Classification of Functioning and Disability (ICF) http://www.who.int/classifications/icf/whodasii/en/

Data type

text

Alias
UMLS CUI [1]
C2370861
UMLS CUI [2,1]
C0231170
UMLS CUI [2,2]
C0678257
UMLS CUI [3]
C4321496
Classification for functioning/disability: Score
Description

Patient's disability profile according to International Classification of Functioning and Disability (ICF) http://www.who.int/classifications/icf/whodasii/en/

Data type

text

Alias
UMLS CUI [1]
C2370861
UMLS CUI [2,1]
C0231170
UMLS CUI [2,2]
C0449820
UMLS CUI [3]
C4321496
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SET OF COMMON DATA ELEMENTS FOR RARE DISEASES REGISTRATION

1 forms
  1. StudyEvent: SET OF COMMON DATA ELEMENTS FOR RARE DISEASES REGISTRATION
    1. SET OF COMMON DATA ELEMENTS FOR RARE DISEASES REGISTRATION
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Pseudonym
C0033824 (UMLS CUI-1)
Pseudonym
Item
Pseudonym
text
C0033824 (UMLS CUI [1])
Item Group
Personal information
C1955348 (UMLS CUI-1)
Date of birth
Item
Date of birth
date
C0421451 (UMLS CUI [1])
Item
Sex
text
C0079399 (UMLS CUI [1])
gender
Code List
Sex
CL Item
male (1)
CL Item
female (2)
CL Item
undetermined (9)
CL Item
foetus (unknown) (3)
Item Group
Patient status
C0449437 (UMLS CUI-1)
Item
Patient's status
integer
C0449437 (UMLS CUI [1])
Patient's status
Code List
Patient's status
CL Item
Alive (1)
CL Item
Dead (2)
CL Item
Lost to follow-up (3)
CL Item
Opted out (4)
Date of death
Item
Date of death
date
C1148348 (UMLS CUI [1])
Item Group
Care pathway
C0086388 (UMLS CUI-1)
C0262926 (UMLS CUI-2)
First contact with specialised centre
Item
First contact with specialised centre
date
C0332158 (UMLS CUI [1,1])
C0678236 (UMLS CUI [1,2])
C0018704 (UMLS CUI [1,3])
C0205435 (UMLS CUI [1,4])
C0011008 (UMLS CUI [1,5])
Item Group
Disease history
C0683519 (UMLS CUI-1)
Item
Age at onset
text
C0150907 (UMLS CUI [1])
age_onset_relative
Code List
Age at onset
CL Item
Antenatal (1)
CL Item
At Birth (2)
CL Item
Date (dd/mm/yyyy) (3)
CL Item
Undetermined (9)
Date of onset
Item
Age at onset (Date)
date
C0574845 (UMLS CUI [1])
Item
Age at diagnosis
text
C1828181 (UMLS CUI [1])
age_onset_relative
Code List
Age at diagnosis
CL Item
Antenatal (1)
CL Item
At Birth (2)
CL Item
Date (dd/mm/yyyy) (3)
CL Item
Undetermined (9)
Date of diagnosis
Item
Age at diagnosis (Date)
date
C2316983 (UMLS CUI [1])
Item Group
Diagnosis
C0011900 (UMLS CUI-1)
Diagnosis of the rare disease: Orpha code
Item
Diagnosis of the rare disease: Orpha code (strongly recommended)
boolean
C0008902 (UMLS CUI [1,1])
C0678236 (UMLS CUI [1,2])
Orpha code
Item
Orpha code
text
C0008902 (UMLS CUI [1,1])
C0678236 (UMLS CUI [1,2])
C1550350 (UMLS CUI [1,3])
Diagnosis of the rare disease: Alpha code
Item
Diagnosis of the rare disease: Alpha code
boolean
C0678236 (UMLS CUI [1,1])
C0008902 (UMLS CUI [1,2])
Alpha code
Item
Alpha code
text
C0678236 (UMLS CUI [1,1])
C0008902 (UMLS CUI [1,2])
C1550350 (UMLS CUI [1,3])
Diagnosis of the rare disease: ICD-9
Item
Diagnosis of the rare disease: ICD-9
boolean
C1137111 (UMLS CUI [1])
ICD-9 code
Item
ICD-9 Code
text
C1137111 (UMLS CUI [1,1])
C1550350 (UMLS CUI [1,2])
Diagnosis of the rare disease: ICD-9 CM
Item
Diagnosis of the rare disease: ICD-9 CM
boolean
C0678236 (UMLS CUI [1,1])
C1137112 (UMLS CUI [1,2])
ICD 9 CM code
Item
ICD-9-CM code
text
C1137112 (UMLS CUI [1,1])
C1550350 (UMLS CUI [1,2])
Diagnosis of the rare disease: ICD-10
Item
Diagnosis of the rare disease: ICD-10
boolean
C0678236 (UMLS CUI [1,1])
C1137110 (UMLS CUI [1,2])
ICD-10 Code
Item
ICD-10 Code
text
C1137110 (UMLS CUI [1,1])
C1550350 (UMLS CUI [1,2])
Genetic diagnosis: HGVS
Item
Genetic diagnosis: International classification of mutations (HGVS) (strongly recommended)
boolean
C0596612 (UMLS CUI [1])
C0026882 (UMLS CUI [2,1])
C0008902 (UMLS CUI [2,2])
HGVS code
Item
International classification of mutations (HGVS) code
text
C0026882 (UMLS CUI [1,1])
C0008902 (UMLS CUI [1,2])
C1550350 (UMLS CUI [1,3])
Genetic diagnosis: HGNC
Item
Genetic diagnosis: HGNC
boolean
C0596612 (UMLS CUI [1])
C3470396 (UMLS CUI [2,1])
C0008902 (UMLS CUI [2,2])
HGNC code
Item
HGNC code
text
C3470396 (UMLS CUI [1,1])
C1550350 (UMLS CUI [1,2])
Genetic diagnosis: OMIM
Item
Genetic diagnosis: OMIM
boolean
C0596612 (UMLS CUI [1])
C0950133 (UMLS CUI [2])
OMIM Code
Item
OMIM Code
text
C0950133 (UMLS CUI [1,1])
C1550350 (UMLS CUI [1,2])
Undiagnosed case: Phenotype (HPO)
Item
Undiagnosed Case: Phenotype (HPO)
boolean
C1408353 (UMLS CUI [1,1])
C0031437 (UMLS CUI [1,2])
C4020635 (UMLS CUI [2])
Phenotype (HPO)
Item
Phenotype (HPO)
text
C1408353 (UMLS CUI [1,1])
C0031437 (UMLS CUI [1,2])
C4020635 (UMLS CUI [2,1])
C0805701 (UMLS CUI [2,2])
Undiagnosed case: Genotype (HGVS)
Item
Undiagnosed case: Genotype (HGVS)
boolean
C1408353 (UMLS CUI [1,1])
C0017431 (UMLS CUI [1,2])
C0026882 (UMLS CUI [2,1])
C0008902 (UMLS CUI [2,2])
Genotype (HGVS)
Item
Genotype (HGVS)
text
C0017431 (UMLS CUI [1])
C0026882 (UMLS CUI [2,1])
C0008902 (UMLS CUI [2,2])
C1550350 (UMLS CUI [2,3])
Item Group
Research
C0008972 (UMLS CUI-1)
Item
Agreement to be contacted for research purposes
integer
C0680240 (UMLS CUI [1,1])
C0332158 (UMLS CUI [1,2])
C0035168 (UMLS CUI [1,3])
research_contact
Code List
Agreement to be contacted for research purposes
CL Item
Yes (1)
CL Item
No (0)
Item
Consent to the reuse of data
integer
C0021430 (UMLS CUI [1,1])
C2699072 (UMLS CUI [1,2])
C2707520 (UMLS CUI [1,3])
research_contact
Code List
Consent to the reuse of data
CL Item
Yes (1)
CL Item
No (0)
Item
Biological sample
integer
C2347026 (UMLS CUI [1,1])
C0470187 (UMLS CUI [1,2])
research_contact
Code List
Biological sample
CL Item
Yes (1)
CL Item
No (0)
Item
Link to Biobank
integer
C3824747 (UMLS CUI [1,1])
C1517892 (UMLS CUI [1,2])
C0470187 (UMLS CUI [1,3])
biobank_link
Code List
Link to Biobank
CL Item
Yes (1)
CL Item
No (0)
Link to a biobank
Item
Link to Biobank
text
C3824747 (UMLS CUI [1,1])
C1517892 (UMLS CUI [1,2])
Item Group
Disability
C0231170 (UMLS CUI-1)
Classification of functioning/disability: Disability profile
Item
Classification for functioning/disability: Disability profile
text
C2370861 (UMLS CUI [1])
C0231170 (UMLS CUI [2,1])
C0678257 (UMLS CUI [2,2])
C4321496 (UMLS CUI [3])
Classification of functioning/disability: Score
Item
Classification for functioning/disability: Score
text
C2370861 (UMLS CUI [1])
C0231170 (UMLS CUI [2,1])
C0449820 (UMLS CUI [2,2])
C4321496 (UMLS CUI [3])
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