Variabelliste for RAREDIS baseret på EU RD Platform
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Number
GROUP
ELEMENT NAME
ELEMENT DESCRIPTION
CODINGCOMMENT
Raredisrådata
LPR3Rådata
CPRrådata
AndetRådata
Indikator1
Indikator2
Indikator3
Indikator4
Indikator5
Indikator6
Indikator7
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1.1PseudonymPseudonymPatient's pseudonymStringThe JRC is working on providing a
pseudonymisation tool to the
registries
x
3
2.1
Personal
information
Date of birthPatient's date of birth
Date (dd/mm/yyyy)
xx
4
2.2
Personal
information
SexPatient's sex at birth
Female
Male
Undetermined
Foetus (Unknown)
x
5
3.1Patient
Status
Patient's statusPatient alive or dead
Alive
Dead
Lost in follow-up
Opted-out
If dead then answer question 3.2x
6
3.2Patient
Status
Date of deathPatient's date of death
Date (dd/mm/yyyy)
x
7
4.1Care pathway
First contact with
specialised centre
Date of first contact with
specialised centre
Date (dd/mm/yyyy)
xx
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5.1Disease historyAge at onsetAge at which symptoms/signs
first appeared
Antenatal
At birth
Date (dd/mm/yyyy)
Undetermined
xx
10
5.2Disease historyAge at diagnosisAge at which diagnosis was made
Antenatal
At birth
Date (dd/mm/yyyy)
Undetermined
xx
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6.1DiagnosisDiagnosis of the rare disease
Diagnosis retained by the
specialised centre
Orpha code (strongly
recommended – see link) /
Alpha code/ ICD-9 code/ ICD-9-
CM code / ICD-10 code
http://www.orphadata.org/cgi-bin/rare_free.htmlxx
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6.2Diagnosis
Genetic diagnosis
Genetic diagnosis retained by
the specialised centre
International classification of
mutations (HGVS) (strongly
recommended – see link) /
HGNC / OMIM code
http://www.hgvs.org/x
genomcenter
x
13
6.3Diagnosis
Undiagnosed case
How the undiagnosed case is
defined
Phenotype (HPO)
Genotype (HGVS)
xx
14
7.1Research
Agreement to be
contacted for
research purposes
Patient's permission exists for
being contacted for research
purposes
YES
NO
xx
15
7.2ResearchConsent to the reuse
of data
Patient's consent exists for
his/her data to be reused for
other research purposes
YES
NO
xx
16
7.3Research
Biological sample
Patient's biological sample
available for research
YES
NO
If YES answer question 7.4(x)(x)
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7.4ResearchLink to a biobankBiological sample stored in a
biobank
YES (if appropriate use link)
NO
https://directory.bbmri-eric.eu/menu/main/app-molgenis-app-biobank-explorer/biobankexplorer(x)(x)
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8.1DisabilityClassification of
functioning/disability
Patient's disability profile
according to International
Classification of Functioning
and Disability (ICF)
Disability profile / Scorehttps://www.who.int/classifications/icf/whodasii/en/
(unclarified)
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