ID

41975

Description

EUROPEAN PLATFORM ON RARE DISEASEREGISTRATION(EU RD Platform): https://eu-rd-platform.jrc.ec.europa.eu/set-of-common-data-elements_en Description taken from the above website (17.02.2021): "The "Set of common data elements for Rare Diseases Registration" is the first practical instrument released by the EU RD Platform aiming at increasing interoperability of RD registries. It contains 16 data elements to be registered by each rare disease registry across Europe, which are considered to be essential for further research. They refer to patient's personal data, diagnosis, disease history and care pathway, information for research purposes and about disability. The "Set of common data elements for Rare Diseases Registration" was produced by a Working Group coordinated by the JRC and composed of experts from EU projects which worked on common data sets: EUCERD Joint Action, EPIRARE and RD-Connect." (For this version some implied additional data elements have been added, e.g. date of onset/diagnosis; data elements identified as multiple answer have been split to several boolean data elements. For "Diagnosis"-data elements additionally the actual diagnosis-code variable has been added) EUROPEAN COMMISSION JOINT RESEARCH CENTRE Directorate F –Health, Consumers and Reference Materials UnitF.1 –Health in Society

Lien

https://eu-rd-platform.jrc.ec.europa.eu/set-of-common-data-elements_en

Mots-clés

Versions (5)
  1. 17/02/2021 17/02/2021 - Sarah Riepenhausen
  2. 17/02/2021 17/02/2021 - Sarah Riepenhausen
  3. 10/03/2021 10/03/2021 -
  4. 10/03/2021 10/03/2021 -
  5. 05/07/2022 05/07/2022 - Dr. Christian Niklas
Détendeur de droits

EUROPEAN COMMISSIONJOINT RESEARCH CENTRE, Directorate F –Health, Consumers and Reference Materials, UnitF.1 –Health in Society, European Platform on rare disease registration

Téléchargé le

10 mars 2021

DOI

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Creative Commons BY 4.0
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EUROPEAN PLATFORM ON RARE DISEASE REGISTRATION (EU RD Platform)

Bulgare Danois Allemand Anglais

SET OF COMMON DATA ELEMENTS FOR RARE DISEASES REGISTRATION

1 Formulaires  
  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

Type de données

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

Type de données

date

Alias
UMLS CUI [1]
C0421451
Sex
Description

Patient's sex at birth

Type de données

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)

Type de données

integer

Alias
UMLS CUI [1]
C0449437
Date of death
Description

Patient's date of death dd/mm/yyyy

Type de données

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

Type de données

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

Type de données

text

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

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

Type de données

date

Alias
UMLS CUI [1]
C0574845
Age at diagnosis
Description

Age at which diagnosis was made

Type de données

text

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

Date at which diagnosis was made dd/mm/yyyy

Type de données

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)

Type de données

boolean

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

Diagnosis retained by the specialised centre

Type de données

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

Type de données

boolean

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

Diagnosis retained by the specialised centre

Type de données

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

Type de données

boolean

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

Diagnosis retained by the specialised centre

Type de données

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

Type de données

boolean

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

Diagnosis retained by the specialised centre

Type de données

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

Type de données

boolean

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

Diagnosis retained by the specialised centre

Type de données

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/)

Type de données

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/)

Type de données

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

Type de données

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

Type de données

text

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

Genetic diagnosis retained by the specialised centre

Type de données

boolean

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

Genetic diagnosis retained by the specialised centre

Type de données

text

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

How the undiagnosed case is defined

Type de données

boolean

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

Phenotype (HPO)

Type de données

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

Type de données

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)

Type de données

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

Type de données

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

Type de données

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)

Type de données

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/

Type de données

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/

Type de données

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/

Type de données

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/

Type de données

text

Alias
UMLS CUI [1]
C2370861
UMLS CUI [2,1]
C0231170
UMLS CUI [2,2]
C0449820
UMLS CUI [3]
C4321496
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Similar models

SET OF COMMON DATA ELEMENTS FOR RARE DISEASES REGISTRATION

1 Formulaires
  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)
Type de données
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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