ID

41976

Descrição

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 Title in the other languages: български: ЕВРОПЕЙСКА ПЛАТФОРМА ЗА РЕГИСТРАЦИЯ НА РЕДКИТЕ ЗАБОЛЯВАНИЯ (Платформа на ЕС за РЗ): НАБОР ОТ ОБЩИ ИНФОРМАЦИОННИ ЕЛЕМЕНТИ ЗА РЕГИСТРАЦИЯ НА РЕДКИТЕ ЗАБОЛЯВАНИЯ Dansk: EUROPÆISK PLATFORM FOR REGISTRERING AF SJÆLDNE SYGDOMME (EU RD-platformen): FÆLLES DATAELEMENTER FOR REGISTRERING AF SJÆLDNE SYGDOMME Deutsch: EUROPÄISCHE PLATTFORM FÜR DIE REGISTRIERUNG SELTENER KRANKHEITEN (EU-SK-Plattform): (Titel fehlt) ελληνικά: ΕΥΡΩΠΑΪΚΗ ΠΛΑΤΦΟΡΜΑ ΓΙΑ ΤΗΝ ΚΑΤΑΧΩΡΙΣΗ ΣΠΑΝΙΩΝ NΟΣΩΝ (Πλατφόρμα της ΕΕ για τις ΣΝ): ΣΥΝΟΛΟ ΚΟΙΝΩΝ ΣΤΟΙΧΕΙΩΝ ΔΕΔΟΜΕΝΩΝ ΓΙΑ ΤΗΝ ΚΑΤΑΧΩΡΙΣΗ ΣΠΑΝΙΩΝ ΝΟΣΩΝ Español: PLATAFORMA EUROPEA PARA EL REGISTRO DE ENFERMEDADES RARAS: DE ENFERMEDADES RARAS Eesti: HARVIKHAIGUSTE REGISTREERIMISE EUROOPA PLATVORM (EU RD Platform): HARVIKHAIGUSTE REGISTREERIMISE ÜHISTE ANDMEELEMENTIDE KOGUM Suomi: HARVINAISSAIRAUKSIEN REKISTERÖINNIN EUROOPPALAINEN FOORUMI: YHTEISET DATAELEMENTIT HARVINAISSAIRAUKSIEN REKISTERÖINTIÄ VARTEN Français: PLATEFORME EUROPÉENNE POUR LES REGISTRES DE MALADIES RARES: ENSEMBLE D’ÉLÉMENTS DE DONNÉES COMMUNS POUR LES REGISTRES DE MALADIES RARES Hrvatski: EUROPSKA PLATFORMA ZA REGISTRACIJU RIJETKIH BOLESTI: SKUP ZAJEDNIČKIH PODATKOVNIH ELEMENATA ZA REGISTRACIJU RIJETKIH BOLESTI Magyar: A RITKA BETEGSÉGEK NYILVÁNTARTÁSÁNAK EURÓPAI PLATFROMJA: A RITKA BETEGSÉGEK NYILVÁNTARTÁSÁRA VONATKOZÓ KÖZÖS ADATELEMEK EGYÜTTESE Italiano: PIATTAFORMA EUROPEA PER LA REGISTRAZIONE DELLE MALATTIE RARE (Piattaforma EU RD): INSIEME DEGLI ELEMENTIDI DATICOMUNIPER LA REGISTRAZIONE DELLE MALATTIE RARE Lietuvių: EUROPOS RETŲJŲ LIGŲ REGISTRAVIMO PLATFORMA (ES RETŲJŲ LIGŲ PLATFORMA): BENDRI RETŲJŲ LIGŲ REGISTRAVIMO DUOMENŲ ELEMENTAI Latviešu: EIROPAS RETO SLIMĪBU REĢISTRĀCIJAS PLATFORMA: KOPĪGU DATU ELEMENTI RETO SLIMĪBU REĢISTRĀCIJAI Malti: IL-PJATTAFORMA EWROPEA DWAR IR-REĠISTRAZZJONI TAL-MARD RARI: SETT TA’ ELEMENTI TAD-DATAKOMUNI GĦAR-REĠISTRAZZJONI TAL-MARD RARI Nederlands: EUROPEES PLATFORM VOOR DE REGISTRATIE VAN ZELDZAME ZIEKTEN (EU RD Platform): ZELDZAME ZIEKTEN Polski: EUROPEJSKA PLATFORMA NA RZECZ REJESTROWANIA CHORÓB RZADKICH: REJESTROWANIA CHORÓB RZADKICH Português: PLATAFORMA EUROPEIA PARA O REGISTO DE DOENÇAS RARAS(PLATAFORMA UE-DR): CONJUNTO DE ELEMENTOS DE DADOS COMUNS PARA O REGISTO DE DOENÇAS RARAS Română: PLATFORMA EUROPEANĂ DE ÎNREGISTRARE A BOLILOR RARE: SET DE ELEMENTE DE DATE COMUNE PENTRU ÎNREGISTRAREA BOLILOR RARE Slovenčina: EURÓPSKA PLATFORMA O REGISTRÁCII ZRIEDKAVÝCH CHORÔB (PLATFORMA PRE ROZVOJ VIDIEKA V EÚ): ZRIEDKAVÝCH CHORÔB Slovenščina: EVROPSKA PLATFORMA ZA REGISTRACIJO REDKIH BOLEZNI: BOLEZNI Svenska: EUROPEISKA PLATTFORMEN FÖR REGISTRERING AV SÄLLSYNTA SJUKDOMAR: GEMENSAMMA DATAELEMENT FÖR REGISTRERING AV SÄLLSYNTA SJUKDOMAR

Link

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

Palavras-chave

Common Data Elements (CDE)

D035583

Released Standard

17/02/2021 17/02/2021 - Sarah Riepenhausen
17/02/2021 17/02/2021 - Sarah Riepenhausen
10/03/2021 10/03/2021 -
10/03/2021 10/03/2021 -
05/07/2022 05/07/2022 - Dr. Christian Niklas

Titular dos direitos

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

Transferido a

10 de março de 2021

DOI

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Licença

Creative Commons BY 4.0

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EUROPEAN PLATFORM ON RARE DISEASE REGISTRATION (EU RD Platform)

SET OF COMMON DATA ELEMENTS FOR RARE DISEASES REGISTRATION

1 Formulários

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

Name

Tipo

Description | Question | Decode (Coded Value)

Tipo de dados

Alias

Pseudonym

Item Group

Ψευδώνυμο

C0033824 (UMLS CUI-1)

Pseudonym

Item

Ψευδώνυμο

text

C0033824 (UMLS CUI [1])

Personal information

Item Group

Προσωπικά στοιχεία

C1955348 (UMLS CUI-1)

Date of birth

Item

Ημερομηνία γέννησης

date

C0421451 (UMLS CUI [1])

Sex

Item

Φύλο

text

C0079399 (UMLS CUI [1])

gender

Code List

Φύλο

CL Item

Θήλυ (2)

CL Item

Άρρεν (1)

CL Item

Δεν προσδιορίζεται (9)

CL Item

Έμβρυο (άγνωστο) (3)

Patient status

Item Group

Κατάσταση του/της ασθενούς

C0449437 (UMLS CUI-1)

Patient's status

Item

Κατάσταση του/της ασθενούς

integer

C0449437 (UMLS CUI [1])

Patient's status

Code List

Κατάσταση του/της ασθενούς

CL Item

Θήλυ (1)

CL Item

Άρρεν (2)

CL Item

Δεν προσδιορίζεται (3)

CL Item

Έμβρυο (άγνωστο) (4)

Date of death

Item

Ημερομηνία θανάτου

date

C1148348 (UMLS CUI [1])

Care pathway

Item Group

Διαδρομή περίθαλψης

C0086388 (UMLS CUI-1)
C0262926 (UMLS CUI-2)

First contact with specialised centre

Item

Πρώτη επαφή με εξειδικευμένο κέντρο

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])

Disease history

Item Group

Ιστορικό της νόσου

C0683519 (UMLS CUI-1)

Age at onset

Item

Ηλικίακατά την εμφάνιση

text

C0150907 (UMLS CUI [1])

age_onset_relative

Code List

Ηλικίακατά την εμφάνιση

CL Item

Προγεννητική (1)

CL Item

Κατά τη γέννηση (2)

CL Item

Ημερομηνία (ηη/μμ/εεεε) (3)

CL Item

Δεν προσδιορίζεται (9)

Date of onset

Item

Ηλικίακατά την εμφάνιση (Ημερομηνία)

date

C0574845 (UMLS CUI [1])

Age at diagnosis

Item

Ηλικία κατά τη διάγνωση

text

C1828181 (UMLS CUI [1])

age_onset_relative

Code List

Ηλικία κατά τη διάγνωση

CL Item

Προγεννητική (1)

CL Item

Κατά τη γέννηση (2)

CL Item

Ημερομηνία (ηη/μμ/εεεε) (3)

CL Item

Δεν προσδιορίζεται (9)

Date of diagnosis

Item

Ηλικία κατά τη διάγνωση (Ημερομηνία)

date

C2316983 (UMLS CUI [1])

Diagnosis

Item Group

Διάγνωση

C0011900 (UMLS CUI-1)

Diagnosis of the rare disease: Orpha code

Item

Διάγνωση της σπάνιας νόσου: Κωδικός Orpha (συνιστάται ενθέρμως)

boolean

C0008902 (UMLS CUI [1,1])
C0678236 (UMLS CUI [1,2])

Orpha code

Item

Κωδικός Orpha

text

C0008902 (UMLS CUI [1,1])
C0678236 (UMLS CUI [1,2])
C1550350 (UMLS CUI [1,3])

Diagnosis of the rare disease: Alpha code

Item

Διάγνωση της σπάνιας νόσου : κωδικός Alpha

boolean

C0678236 (UMLS CUI [1,1])
C0008902 (UMLS CUI [1,2])

Alpha code

Item

κωδικός Alpha

text

C0678236 (UMLS CUI [1,1])
C0008902 (UMLS CUI [1,2])
C1550350 (UMLS CUI [1,3])

Diagnosis of the rare disease: ICD-9

Item

Διάγνωση της σπάνιας νόσου : κωδικός ICD-9

boolean

C1137111 (UMLS CUI [1])

ICD-9 code

Item

κωδικός ICD-9

text

C1137111 (UMLS CUI [1,1])
C1550350 (UMLS CUI [1,2])

Diagnosis of the rare disease: ICD-9 CM

Item

Διάγνωση της σπάνιας νόσου : κωδικός ICD-9 CM

boolean

C0678236 (UMLS CUI [1,1])
C1137112 (UMLS CUI [1,2])

ICD 9 CM code

Item

κωδικός ICD-9-CM

text

C1137112 (UMLS CUI [1,1])
C1550350 (UMLS CUI [1,2])

Diagnosis of the rare disease: ICD-10

Item

Διάγνωση της σπάνιας νόσου : κωδικός ICD-10

boolean

C0678236 (UMLS CUI [1,1])
C1137110 (UMLS CUI [1,2])

ICD-10 Code

Item

κωδικός ICD-10

text

C1137110 (UMLS CUI [1,1])
C1550350 (UMLS CUI [1,2])

Genetic diagnosis: HGVS

Item

Γενετική διάγνωση: Διεθνής ταξινόμηση των μεταλλάξεων (HGVS) (συνιστάται ενθέρμως)

boolean

C0596612 (UMLS CUI [1])
C0026882 (UMLS CUI [2,1])
C0008902 (UMLS CUI [2,2])

HGVS code

Item

Διεθνής ταξινόμηση των μεταλλάξεων (HGVS) (συνιστάται ενθέρμως)

text

C0026882 (UMLS CUI [1,1])
C0008902 (UMLS CUI [1,2])
C1550350 (UMLS CUI [1,3])

Genetic diagnosis: HGNC

Item

Γενετική διάγνωση: HGNC

boolean

C0596612 (UMLS CUI [1])
C3470396 (UMLS CUI [2,1])
C0008902 (UMLS CUI [2,2])

HGNC code

Item

κωδικός HGNC

text

C3470396 (UMLS CUI [1,1])
C1550350 (UMLS CUI [1,2])

Genetic diagnosis: OMIM

Item

Γενετική διάγνωση: OMIM

boolean

C0596612 (UMLS CUI [1])
C0950133 (UMLS CUI [2])

OMIM Code

Item

κωδικός OMIM

text

C0950133 (UMLS CUI [1,1])
C1550350 (UMLS CUI [1,2])

Undiagnosed case: Phenotype (HPO)

Item

Αδιάγνωστη περίπτωση: Φαινότυπος (HPO)

boolean

C1408353 (UMLS CUI [1,1])
C0678236 (UMLS CUI [1,2])
C0031437 (UMLS CUI [1,3])
C4020635 (UMLS CUI [2])

Phenotype (HPO)

Item

Φαινότυπος (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

Αδιάγνωστη περίπτωση: Γονότυπος (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

Γονότυπος (HGVS)

text

C0017431 (UMLS CUI [1])
C0026882 (UMLS CUI [2,1])
C0008902 (UMLS CUI [2,2])
C1550350 (UMLS CUI [2,3])

Research

Item Group

Έρευνα

C0008972 (UMLS CUI-1)

Agreement to be contacted for research purposes

Item

Συγκατάθεση για επικοινωνία για ερευνητικούς σκοπούς

integer

C0680240 (UMLS CUI [1,1])
C0332158 (UMLS CUI [1,2])
C0035168 (UMLS CUI [1,3])

research_contact

Code List

Συγκατάθεση για επικοινωνία για ερευνητικούς σκοπούς

CL Item

NAI (1)

CL Item

OXI (0)

Consent to the reuse of data

Item

Συγκατάθεση για την περαιτέρω χρήση των δεδομένων

integer

C0021430 (UMLS CUI [1,1])
C2699072 (UMLS CUI [1,2])
C2707520 (UMLS CUI [1,3])

research_contact

Code List

Συγκατάθεση για την περαιτέρω χρήση των δεδομένων

CL Item

NAI (1)

CL Item

OXI (0)

Biological sample

Item

Βιολογικό δείγμα

integer

C2347026 (UMLS CUI [1,1])
C0470187 (UMLS CUI [1,2])

research_contact

Code List

Βιολογικό δείγμα

CL Item

NAI (1)

CL Item

OXI (0)

Link to a biobank

Item

Σύνδεσμος προς βιοτράπεζα

integer

C3824747 (UMLS CUI [1,1])
C1517892 (UMLS CUI [1,2])
C0470187 (UMLS CUI [1,3])

biobank_link

Code List

Σύνδεσμος προς βιοτράπεζα

CL Item

ΝΑΙ (κατά περίπτωση, χρησιμοποιήστε σύνδεσμο) (1)

CL Item

ΟΧΙ (0)

Link to a biobank

Item

Σύνδεσμος προς βιοτράπεζα

text

C3824747 (UMLS CUI [1,1])
C1517892 (UMLS CUI [1,2])

Disability

Item Group

Αναπηρία

C0231170 (UMLS CUI-1)

Classification of functioning/disability: Disability profile

Item

Ταξινόμηση της ικανότητας/αναπηρίας: Προφίλ αναπηρίας

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

Ταξινόμηση της ικανότητας/αναπηρίας: βαθμός αναπηρίας

text

C2370861 (UMLS CUI [1])
C0231170 (UMLS CUI [2,1])
C0449820 (UMLS CUI [2,2])
C4321496 (UMLS CUI [3])

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EUROPEAN PLATFORM ON RARE DISEASE REGISTRATION (EU RD Platform)

SET OF COMMON DATA ELEMENTS FOR RARE DISEASES REGISTRATION

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