ID

45010

Beschreibung

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

Stichworte

Versionen (5)
  1. 17.02.21 17.02.21 - Sarah Riepenhausen
  2. 17.02.21 17.02.21 - Sarah Riepenhausen
  3. 10.03.21 10.03.21 -
  4. 10.03.21 10.03.21 -
  5. 05.07.22 05.07.22 - Dr. Christian Niklas
Rechteinhaber

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

Hochgeladen am

5. Juli 2022

DOI

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Lizenz

Creative Commons BY 4.0
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EUROPEAN PLATFORM ON RARE DISEASE REGISTRATION (EU RD Platform / ERDRI Common Data Set)

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SET OF COMMON DATA ELEMENTS FOR RARE DISEASES REGISTRATION

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

Psewdonimu

Alias
UMLS CUI-1
C0033824
Psewdonimu
Beschreibung

Psewdonimu tal-pazjent https://eu-rd-platform.jrc.ec.europa.eu/erdri/eupid-intro

Datentyp

text

Alias
UMLS CUI [1]
C0033824
Informazzjoni personali
Beschreibung

Informazzjoni personali

Alias
UMLS CUI-1
C1955348
Data tat-twelid
Beschreibung

Data tat-twelid tal-pazjent jj/xx/ssss

Datentyp

date

Alias
UMLS CUI [1]
C0421451
Sess
Beschreibung

Sess tal-pazjent mat-twelid

Datentyp

text

Alias
UMLS CUI [1]
C0079399
Status tal-pazjent
Beschreibung

Status tal-pazjent

Alias
UMLS CUI-1
C0449437
Status tal-pazjent
Beschreibung

Pazjent ħaj jew mejjet Jekk mejjet, wieġeb il-mistoqsija 3.2 (Data tal-mewt)

Datentyp

integer

Alias
UMLS CUI [1]
C0449437
Data tal-mewt
Beschreibung

Data tal-mewt tal-pazjent jj/xx/ssss

Datentyp

date

Alias
UMLS CUI [1]
C1148348
Perkors ta’ kura
Beschreibung

Perkors ta’ kura

Alias
UMLS CUI-1
C0086388
UMLS CUI-2
C0262926
L-ewwel kuntatt ma’ ċentru speċjalizzat
Beschreibung

Data tal-ewwel kuntatt ma’ ċentru speċjalizzat jj/xx/ssss

Datentyp

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
Storja tal-marda
Beschreibung

Storja tal-marda

Alias
UMLS CUI-1
C0683519
Età meta tfaċċat il-marda
Beschreibung

Età meta dehru l-ewwel sintomi/sinjali

Datentyp

text

Alias
UMLS CUI [1]
C0150907
Età meta tfaċċat il-marda (Data)
Beschreibung

Età meta dehru l-ewwel sintomi/sinjali

Datentyp

date

Alias
UMLS CUI [1]
C0574845
Età fid-dijanjożi
Beschreibung

Età meta saret id-dijanjożi

Datentyp

text

Alias
UMLS CUI [1]
C1828181
Età fid-dijanjożi (Data)
Beschreibung

Età meta saret id-dijanjożi

Datentyp

date

Alias
UMLS CUI [1]
C2316983
Dijanjożi
Beschreibung

Dijanjożi

Alias
UMLS CUI-1
C0011900
Dijanjożi tal-marda rari: Kodiċi orfa (rakkomandat ħafna)
Beschreibung

Dijanjożi miżmuma miċ-ċentru speċjalizzat (rakkomandat ħafna – ara l-link http://www.orphadata.org/cgi-bin/inc/product1.inc.php)

Datentyp

boolean

Alias
UMLS CUI [1,1]
C0008902
UMLS CUI [1,2]
C0678236
Kodiċi orfa
Beschreibung

Dijanjożi miżmuma miċ-ċentru speċjalizzat

Datentyp

text

Alias
UMLS CUI [1,1]
C0008902
UMLS CUI [1,2]
C0678236
UMLS CUI [1,3]
C1550350
Dijanjożi tal-marda rari: Kodiċi alfa
Beschreibung

Dijanjożi miżmuma miċ-ċentru speċjalizzat

Datentyp

boolean

Alias
UMLS CUI [1,1]
C0678236
UMLS CUI [1,2]
C0008902
Kodiċi alfa
Beschreibung

Dijanjożi miżmuma miċ-ċentru speċjalizzat

Datentyp

text

Alias
UMLS CUI [1,1]
C0678236
UMLS CUI [1,2]
C0008902
UMLS CUI [1,3]
C1550350
Dijanjożi tal-marda rari: Kodiċi ICD-9
Beschreibung

Dijanjożi miżmuma miċ-ċentru speċjalizzat

Datentyp

boolean

Alias
UMLS CUI [1]
C1137111
Kodiċi ICD-9
Beschreibung

Dijanjożi miżmuma miċ-ċentru speċjalizzat

Datentyp

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C1550350
Dijanjożi tal-marda rari: Kodiċi ICD-9-CM
Beschreibung

Dijanjożi miżmuma miċ-ċentru speċjalizzat

Datentyp

boolean

Alias
UMLS CUI [1,1]
C0678236
UMLS CUI [1,2]
C1137112
Kodiċi ICD-9-CM
Beschreibung

Dijanjożi miżmuma miċ-ċentru speċjalizzat

Datentyp

text

Alias
UMLS CUI [1,1]
C1137112
UMLS CUI [1,2]
C1550350
Dijanjożi tal-marda rari: Kodiċi ICD-10
Beschreibung

Dijanjożi miżmuma miċ-ċentru speċjalizzat

Datentyp

boolean

Alias
UMLS CUI [1,1]
C0678236
UMLS CUI [1,2]
C1137110
Kodiċi ICD-10
Beschreibung

Dijanjożi miżmuma miċ-ċentru speċjalizzat

Datentyp

text

Alias
UMLS CUI [1,1]
C1137110
UMLS CUI [1,2]
C1550350
Dijanjożi ġenetika: Klassifikazzjoni internazzjonali tal-mutazzjonijiet (HGVS) (rakkomandata ħafna)
Beschreibung

Dijanjożi ġenetika miżmuma miċ-ċentru speċjalizzat (rakkomandata ħafna – ara l-link http://www.hgvs.org)

Datentyp

boolean

Alias
UMLS CUI [1]
C0596612
UMLS CUI [2,1]
C0026882
UMLS CUI [2,2]
C0008902
Klassifikazzjoni internazzjonali tal-mutazzjonijiet (HGVS)
Beschreibung

Dijanjożi ġenetika miżmuma miċ-ċentru speċjalizzat (rakkomandata ħafna – ara l-link http://www.hgvs.org)

Datentyp

text

Alias
UMLS CUI [1,1]
C0026882
UMLS CUI [1,2]
C0008902
UMLS CUI [1,3]
C1550350
Dijanjożi ġenetika: Kodiċi HGNC
Beschreibung

Dijanjożi ġenetika miżmuma miċ-ċentru speċjalizzat

Datentyp

boolean

Alias
UMLS CUI [1]
C0596612
UMLS CUI [2,1]
C3470396
UMLS CUI [2,2]
C0008902
Kodiċi HGNC
Beschreibung

Dijanjożi ġenetika miżmuma miċ-ċentru speċjalizzat

Datentyp

text

Alias
UMLS CUI [1,1]
C3470396
UMLS CUI [1,2]
C1550350
Dijanjożi ġenetika: OMIM
Beschreibung

Dijanjożi ġenetika miżmuma miċ-ċentru speċjalizzat

Datentyp

boolean

Alias
UMLS CUI [1]
C0596612
UMLS CUI [2]
C0950133
OMIM
Beschreibung

Dijanjożi ġenetika miżmuma miċ-ċentru speċjalizzat

Datentyp

text

Alias
UMLS CUI [1,1]
C0950133
UMLS CUI [1,2]
C1550350
Każ mhux dijanjostikat: Fenotip (HPO)
Beschreibung

Kif huwa definit il-każ mhux dijanjostikat

Datentyp

boolean

Alias
UMLS CUI [1,1]
C1408353
UMLS CUI [1,2]
C0678236
UMLS CUI [1,3]
C0031437
UMLS CUI [2]
C4020635
Fenotip (HPO)
Beschreibung

Kif huwa definit il-każ mhux dijanjostikat

Datentyp

text

Alias
UMLS CUI [1,1]
C1408353
UMLS CUI [1,2]
C0031437
UMLS CUI [2,1]
C4020635
UMLS CUI [2,2]
C0805701
Każ mhux dijanjostikat: Ġenotip (HGVS)
Beschreibung

Kif huwa definit il-każ mhux dijanjostikat

Datentyp

boolean

Alias
UMLS CUI [1,1]
C1408353
UMLS CUI [1,2]
C0017431
UMLS CUI [2,1]
C0026882
UMLS CUI [2,2]
C0008902
Ġenotip (HGVS)
Beschreibung

Kif huwa definit il-każ mhux dijanjostikat

Datentyp

text

Alias
UMLS CUI [1]
C0017431
UMLS CUI [2,1]
C0026882
UMLS CUI [2,2]
C0008902
UMLS CUI [2,3]
C1550350
Riċerka
Beschreibung

Riċerka

Alias
UMLS CUI-1
C0008972
Qbil biex jiġi kkuntattjat għal skopijiet ta’ riċerka
Beschreibung

Jeżisti permess tal-pazjent biex jiġi kkuntattjat għal skopijiet ta’ riċerka

Datentyp

integer

Alias
UMLS CUI [1,1]
C0680240
UMLS CUI [1,2]
C0332158
UMLS CUI [1,3]
C0035168
Kunsens biex id-data tintuża mill-ġdid
Beschreibung

Jeżisti kunsens tal-pazjent biex id-data tiegħu tintuża mill-ġdid għal skopijiet ta’ riċerka oħra

Datentyp

integer

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C2699072
UMLS CUI [1,3]
C2707520
Kampjun bijoloġiku
Beschreibung

Kampjun bijoloġiku tal-pazjent disponibbli għar-riċerka Jekk IVA, wieġeb il-mistoqsija 7.4 (Link għal bijobank)

Datentyp

integer

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C0470187
Link għal bijobank
Beschreibung

Kampjun bijoloġiku maħżun f’bijobank https://directory.bbmri-eric.eu

Datentyp

integer

Alias
UMLS CUI [1,1]
C3824747
UMLS CUI [1,2]
C1517892
UMLS CUI [1,3]
C0470187
Link għal bijobank
Beschreibung

Kampjun bijoloġiku maħżun f’bijobank jekk ikun xieraq uża l-link: https://directory.bbmri-eric.eu

Datentyp

text

Alias
UMLS CUI [1,1]
C3824747
UMLS CUI [1,2]
C1517892
Diżabbiltà
Beschreibung

Diżabbiltà

Alias
UMLS CUI-1
C0231170
Klassifikazzjoni ta’ funzjonament/diżabbiltà: Profil ta’ diżabbiltà
Beschreibung

Profil ta’ diżabbiltà ta’ pazjent skont il-Klassifikazzjoni Internazzjonali tal-Funzjonament u tad-Diżabbiltà (ICF) http://www.who.int/classifications/icf/whodasii/en/

Datentyp

text

Alias
UMLS CUI [1]
C2370861
UMLS CUI [2,1]
C0231170
UMLS CUI [2,2]
C0678257
UMLS CUI [3]
C4321496
Klassifikazzjoni ta’ funzjonament/diżabbiltà: Punteġġ
Beschreibung

Profil ta’ diżabbiltà ta’ pazjent skont il-Klassifikazzjoni Internazzjonali tal-Funzjonament u tad-Diżabbiltà (ICF) http://www.who.int/classifications/icf/whodasii/en/

Datentyp

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 Formulare
  1. StudyEvent: SET OF COMMON DATA ELEMENTS FOR RARE DISEASES REGISTRATION
    1. SET OF COMMON DATA ELEMENTS FOR RARE DISEASES REGISTRATION
Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
Psewdonimu
C0033824 (UMLS CUI-1)
Pseudonym
Item
Psewdonimu
text
C0033824 (UMLS CUI [1])
Item Group
Informazzjoni personali
C1955348 (UMLS CUI-1)
Date of birth
Item
Data tat-twelid
date
C0421451 (UMLS CUI [1])
Item
Sess
text
C0079399 (UMLS CUI [1])
gender
Code List
Sess
CL Item
Mara (2)
CL Item
Raġel (1)
CL Item
Mhux determinat (9)
CL Item
Fetu (Mhux magħruf) (3)
Item Group
Status tal-pazjent
C0449437 (UMLS CUI-1)
Item
Status tal-pazjent
integer
C0449437 (UMLS CUI [1])
Patient's status
Code List
Status tal-pazjent
CL Item
Ħaj (1)
CL Item
Mejjet (2)
CL Item
Mitluf fis-segwitu (3)
CL Item
Ma pparteċipax (4)
Date of death
Item
Data tal-mewt
date
C1148348 (UMLS CUI [1])
Item Group
Perkors ta’ kura
C0086388 (UMLS CUI-1)
C0262926 (UMLS CUI-2)
First contact with specialised centre
Item
L-ewwel kuntatt ma’ ċentru speċjalizzat
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
Storja tal-marda
C0683519 (UMLS CUI-1)
Item
Età meta tfaċċat il-marda
text
C0150907 (UMLS CUI [1])
age_onset_relative
Code List
Età meta tfaċċat il-marda
CL Item
Wara t-twelid (1)
CL Item
Mat-twelid (2)
CL Item
Data (jj/xx/ssss) (3)
CL Item
Mhux determinata (9)
Date of onset
Item
Età meta tfaċċat il-marda (Data)
date
C0574845 (UMLS CUI [1])
Item
Età fid-dijanjożi
text
C1828181 (UMLS CUI [1])
age_onset_relative
Code List
Età fid-dijanjożi
CL Item
Wara t-twelid (1)
CL Item
Mat-twelid (2)
CL Item
Data (jj/xx/ssss) (3)
CL Item
Mhux determinata (9)
Date of diagnosis
Item
Età fid-dijanjożi (Data)
date
C2316983 (UMLS CUI [1])
Item Group
Dijanjożi
C0011900 (UMLS CUI-1)
Diagnosis of the rare disease: Orpha code
Item
Dijanjożi tal-marda rari: Kodiċi orfa (rakkomandat ħafna)
boolean
C0008902 (UMLS CUI [1,1])
C0678236 (UMLS CUI [1,2])
Orpha code
Item
Kodiċi orfa
text
C0008902 (UMLS CUI [1,1])
C0678236 (UMLS CUI [1,2])
C1550350 (UMLS CUI [1,3])
Diagnosis of the rare disease: Alpha code
Item
Dijanjożi tal-marda rari: Kodiċi alfa
boolean
C0678236 (UMLS CUI [1,1])
C0008902 (UMLS CUI [1,2])
Alpha code
Item
Kodiċi alfa
text
C0678236 (UMLS CUI [1,1])
C0008902 (UMLS CUI [1,2])
C1550350 (UMLS CUI [1,3])
Diagnosis of the rare disease: ICD-9
Item
Dijanjożi tal-marda rari: Kodiċi ICD-9
boolean
C1137111 (UMLS CUI [1])
ICD-9 code
Item
Kodiċi ICD-9
text
C1137111 (UMLS CUI [1,1])
C1550350 (UMLS CUI [1,2])
Diagnosis of the rare disease: ICD-9 CM
Item
Dijanjożi tal-marda rari: Kodiċi ICD-9-CM
boolean
C0678236 (UMLS CUI [1,1])
C1137112 (UMLS CUI [1,2])
ICD 9 CM code
Item
Kodiċi ICD-9-CM
text
C1137112 (UMLS CUI [1,1])
C1550350 (UMLS CUI [1,2])
Diagnosis of the rare disease: ICD-10
Item
Dijanjożi tal-marda rari: Kodiċi ICD-10
boolean
C0678236 (UMLS CUI [1,1])
C1137110 (UMLS CUI [1,2])
ICD-10 Code
Item
Kodiċi ICD-10
text
C1137110 (UMLS CUI [1,1])
C1550350 (UMLS CUI [1,2])
Genetic diagnosis: HGVS
Item
Dijanjożi ġenetika: Klassifikazzjoni internazzjonali tal-mutazzjonijiet (HGVS) (rakkomandata ħafna)
boolean
C0596612 (UMLS CUI [1])
C0026882 (UMLS CUI [2,1])
C0008902 (UMLS CUI [2,2])
HGVS code
Item
Klassifikazzjoni internazzjonali tal-mutazzjonijiet (HGVS)
text
C0026882 (UMLS CUI [1,1])
C0008902 (UMLS CUI [1,2])
C1550350 (UMLS CUI [1,3])
Genetic diagnosis: HGNC
Item
Dijanjożi ġenetika: Kodiċi HGNC
boolean
C0596612 (UMLS CUI [1])
C3470396 (UMLS CUI [2,1])
C0008902 (UMLS CUI [2,2])
HGNC code
Item
Kodiċi HGNC
text
C3470396 (UMLS CUI [1,1])
C1550350 (UMLS CUI [1,2])
Genetic diagnosis: OMIM
Item
Dijanjożi ġenetika: OMIM
boolean
C0596612 (UMLS CUI [1])
C0950133 (UMLS CUI [2])
OMIM Code
Item
OMIM
text
C0950133 (UMLS CUI [1,1])
C1550350 (UMLS CUI [1,2])
Undiagnosed case: Phenotype (HPO)
Item
Każ mhux dijanjostikat: Fenotip (HPO)
boolean
C1408353 (UMLS CUI [1,1])
C0678236 (UMLS CUI [1,2])
C0031437 (UMLS CUI [1,3])
C4020635 (UMLS CUI [2])
Phenotype (HPO)
Item
Fenotip (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
Każ mhux dijanjostikat: Ġenotip (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
Ġenotip (HGVS)
text
C0017431 (UMLS CUI [1])
C0026882 (UMLS CUI [2,1])
C0008902 (UMLS CUI [2,2])
C1550350 (UMLS CUI [2,3])
Item Group
Riċerka
C0008972 (UMLS CUI-1)
Item
Qbil biex jiġi kkuntattjat għal skopijiet ta’ riċerka
integer
C0680240 (UMLS CUI [1,1])
C0332158 (UMLS CUI [1,2])
C0035168 (UMLS CUI [1,3])
research_contact
Code List
Qbil biex jiġi kkuntattjat għal skopijiet ta’ riċerka
CL Item
IVA (1)
CL Item
LE (0)
Item
Kunsens biex id-data tintuża mill-ġdid
integer
C0021430 (UMLS CUI [1,1])
C2699072 (UMLS CUI [1,2])
C2707520 (UMLS CUI [1,3])
research_contact
Code List
Kunsens biex id-data tintuża mill-ġdid
CL Item
IVA (1)
CL Item
LE (0)
Item
Kampjun bijoloġiku
integer
C2347026 (UMLS CUI [1,1])
C0470187 (UMLS CUI [1,2])
research_contact
Code List
Kampjun bijoloġiku
CL Item
IVA (1)
CL Item
LE (0)
Item
Link għal bijobank
integer
C3824747 (UMLS CUI [1,1])
C1517892 (UMLS CUI [1,2])
C0470187 (UMLS CUI [1,3])
biobank_link
Code List
Link għal bijobank
CL Item
IVA (jekk ikun xieraq uża l-link) (1)
CL Item
LE (0)
Link to a biobank
Item
Link għal bijobank
text
C3824747 (UMLS CUI [1,1])
C1517892 (UMLS CUI [1,2])
Item Group
Diżabbiltà
C0231170 (UMLS CUI-1)
Classification of functioning/disability: Disability profile
Item
Klassifikazzjoni ta’ funzjonament/diżabbiltà: Profil ta’ diżabbiltà
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
Klassifikazzjoni ta’ funzjonament/diżabbiltà: Punteġġ
text
C2370861 (UMLS CUI [1])
C0231170 (UMLS CUI [2,1])
C0449820 (UMLS CUI [2,2])
C4321496 (UMLS CUI [3])
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