ID

46213

Beskrivning

Demographic Analysis The ERKReg registry collects data from 24 countries and allows to analyse the frequency and characteristics of more than 300 rare kidney diseases in different regions of Europe. Natural Disease History Patient information is collected once a year by the medical teams to follow the clinical course over time. This will help to identify risk factors for complications and disease progression. New Therapies ERKReg data facilitates multicentre research projects to explore novel treatment strategies and new drugs that can improve the patient’s wellbeing and quality of life. The registry allows to find patients with a particular disease for which a new treatment is being developed. The registry team brokers the matching of patients with upcoming clinical trial opportunities. In this way, the registry supports the rapid access of our patients to new therapies. Benchmarking The expert centres participating in ERKReg continuously follow the performance of their patient management according to key quality indicators of diagnostic and therapeutic interventions. ERKReg provides performance statistics for each centre and the entire registry. This allows the centres to compare the quality of their management with that of the overall ERKNet community. In this way, we support the excellence and continuous improvement of care in all ERKNet centres throughout Europe.

Länk

ERKReg

Nyckelord

Versioner (1)
  1. 2026-02-27 2026-02-27 - Dr. med. Anke Doyon
Rättsinnehavare

ERKNet - European Rare Kidney Disease Reference Network

Uppladdad den

27 februari 2026

DOI

För en begäran logga in.

Licens

Creative Commons BY 4.0
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ERKReg - European Rare Kidney Disease Registry of the ERKNet - European Rate Kidney Disease Network

Tysk

ERKNet Core Registry: Patient information

23 Formulär  
Registry participation
Beskrivning

Registry participation

Alias
UMLS CUI [1,1]
C0034975
UMLS CUI [1,2]
C0679823
ID
Beskrivning

I.pat_id

Datatyp

text

Alias
UMLS CUI [1,1]
C1300638
ERKNet ID
Beskrivning

I.erknet_id

Datatyp

integer

Alias
UMLS CUI [1,1]
C1300638
UMLS CUI [1,2]
C1882071
Center
Beskrivning

I.center_id

Datatyp

text

Alias
UMLS CUI [1,1]
C0565990
Patient participates in ERKNet Registry
Beskrivning

I.erknet_part

Datatyp

text

Alias
UMLS CUI [1,1]
C0030699
UMLS CUI [1,2]
C1882071
UMLS CUI [1,3]
C0678236
UMLS CUI [1,4]
C0022658
Patient participates in dRTA Registry
Beskrivning

I.drta_participation

Datatyp

text

Alias
UMLS CUI [1,1]
C0030699
UMLS CUI [1,2]
C0034975
UMLS CUI [1,3]
C1704380
Patient participates in Alport Registry
Beskrivning

I.alport_participation

Datatyp

text

Alias
UMLS CUI [1,1]
C0030699
UMLS CUI [1,2]
C0034975
UMLS CUI [1,3]
C1567741
Patient participates in SLE Registry
Beskrivning

I.sle_participation

Datatyp

text

Alias
UMLS CUI [1,1]
C0030699
UMLS CUI [1,2]
C0034975
UMLS CUI [1,3]
C0024141
Patient participates in Cystinuria Registry
Beskrivning

I.cystinuria_participation

Datatyp

text

Alias
UMLS CUI [1,1]
C0030699
UMLS CUI [1,2]
C0034975
UMLS CUI [1,3]
C0010691
Patient pariticipates in Bartter Registry
Beskrivning

I.bartter_participation

Datatyp

text

Alias
UMLS CUI [1,1]
C0030699
UMLS CUI [1,2]
C0034975
UMLS CUI [1,3]
C0004775
Patient participates in EsCapeKD cohort study
Beskrivning

I.escapekd_participation

Datatyp

text

Alias
UMLS CUI [1,1]
C0030699
UMLS CUI [1,2]
C0034975
UMLS CUI [1,3]
C1561643
Patient participates in CompCure Registry
Beskrivning

I.compcure_participation

Datatyp

text

Alias
UMLS CUI [1,1]
C0030699
UMLS CUI [1,2]
C0034975
UMLS CUI [1,3]
C4087273
UMLS CUI [1,4]
C5849428
Basic data
Beskrivning

Basic data

Alias
UMLS CUI [1,1]
C1955348
Center unit
Beskrivning

I.ark_unit

Datatyp

text

Alias
UMLS CUI [1,1]
C0565990
Date of informed consent
Beskrivning

I.ark_date

Datatyp

date

Alias
UMLS CUI [1,1]
C2985782
Consent to data being shared for clinical care
Beskrivning

I.ark_share

Datatyp

text

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C5784362
UMLS CUI [1,3]
C1552226
Consent to being contacted about research projects
Beskrivning

I.ark_contact

Datatyp

text

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C2051501
UMLS CUI [1,3]
C5984819
Consent to pseudonymized data being shared to support commercial projects aimed to improve healthcare
Beskrivning

I.ark_pseudo

Datatyp

text

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C3858753
UMLS CUI [1,3]
C2707520
UMLS CUI [1,4]
C5784362
UMLS CUI [1,5]
C0680536
UMLS CUI [1,6]
C0557829
Basic data
Beskrivning

Basic data

Alias
UMLS CUI [1,1]
C1955348
Sex
Beskrivning

I.sex

Datatyp

text

Alias
UMLS CUI [1,1]
C1522384
Birthdate
Beskrivning

I.birthdate

Datatyp

date

Alias
UMLS CUI [1,1]
C0421451
Age at the time of the last visit or at the time of the export
Beskrivning

I.current_age

Datatyp

float

Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C5204632
Ethnicity
Beskrivning

I.Ethnicity

Datatyp

text

Alias
UMLS CUI [1,1]
C0015031
if other:
Beskrivning

I.ethnicity_other

Datatyp

text

Alias
UMLS CUI [1,1]
C1521902
UMLS CUI [1,2]
C0205394
UMLS CUI [1,3]
C0015031
Date of first symptoms
Beskrivning

I.first_symptoms_date

Datatyp

date

Alias
UMLS CUI [1,1]
C1457887
UMLS CUI [1,2]
C0011008
UMLS CUI [1,3]
C0449990
Date of first presentation to center
Beskrivning

I.first_visit_date

Datatyp

date

Alias
UMLS CUI [1,1]
C1320303
UMLS CUI [1,2]
C0205435
UMLS CUI [1,3]
C0040223
Renal diagnosis established? 
Beskrivning

I.dia_est

Datatyp

text

Alias
UMLS CUI [1,1]
C0022658
UMLS CUI [1,2]
C1512698
If No: Signs and symptoms compatible with
Beskrivning

I.symptoms_group

Datatyp

integer

Alias
UMLS CUI [1,1]
C0037088
UMLS CUI [1,2]
C0022658
UMLS CUI [1,3]
C1521902
Diagnosis
Beskrivning

I.diagnosis

Datatyp

float

Alias
UMLS CUI [1,1]
C0011900
Disease group
Beskrivning

I.dis_group

Datatyp

integer

Alias
UMLS CUI [1,1]
C0012634
UMLS CUI [1,2]
C0441833
UMLS CUI [1,3]
C0600091
Diagnosis path (full path of diagnosis)
Beskrivning

I.diagnosis_path

Datatyp

text

Alias
UMLS CUI [1,1]
C0430022
UMLS CUI [1,2]
C0262926
If diseasegroup='Renal or urinary tract malformation'
Beskrivning

I.syndromic_disorder

Datatyp

float

Alias
UMLS CUI [1,1]
C4551596
UMLS CUI [1,2]
C5681584
Further specifications
Beskrivning

I.syndromic_disorder_spec

Datatyp

text

Alias
UMLS CUI [1,1]
C1830770
Has the patient a secondary diagnosis?
Beskrivning

I.has_dia2nd

Datatyp

text

Alias
UMLS CUI [1,1]
C0332138
UMLS CUI [1,2]
C1522602
Secondary diagnosis:
Beskrivning

I.diagnosis2nd

Datatyp

float

Alias
UMLS CUI [1,1]
C0332138
UMLS CUI [1,2]
C1521902
When was the diagnosis considered confirmed?
Beskrivning

I.dia_date

Datatyp

date

Alias
UMLS CUI [1,1]
C0011008
UMLS CUI [1,2]
C0011900
UMLS CUI [1,3]
C0750484
Diagnosis established through: clinical history?
Beskrivning

I.dia_clinical_history

Datatyp

text

Alias
UMLS CUI [1,1]
C0262926
UMLS CUI [1,2]
C0430022
UMLS CUI [1,3]
C1521902
Diagnosis established through: positive family history?
Beskrivning

I.dia_family_history

Datatyp

text

Alias
UMLS CUI [1,1]
C0430022
UMLS CUI [1,2]
C0332307
UMLS CUI [1,3]
C0241889
Diagnosis established through: clinical examination?
Beskrivning

I.dia_clinical_exam

Datatyp

text

Alias
UMLS CUI [1,1]
C1456356
UMLS CUI [1,2]
C0430022
UMLS CUI [1,3]
C0332307
Diagnosis established through: biochemical evaluation?
Beskrivning

I.dia_biochemical

Datatyp

text

Alias
UMLS CUI [1,1]
C0428132
UMLS CUI [1,2]
C0430022
UMLS CUI [1,3]
C0332307
Diagnosis established through: immunological evaluation?
Beskrivning

I.dia_immunological

Datatyp

text

Alias
UMLS CUI [1,1]
C0205470
UMLS CUI [1,2]
C0220825
UMLS CUI [1,3]
C0430022
UMLS CUI [1,4]
C0332307
Diagnosis established through: CFH autoantibodies?
Beskrivning

I.dia_immun_cfh

Datatyp

text

Alias
UMLS CUI [1,1]
C0430022
UMLS CUI [1,2]
C0332307
UMLS CUI [1,3]
C5558375
Diagnosis established through: hematological evaluation?
Beskrivning

I.dia_hematological

Datatyp

text

Alias
UMLS CUI [1,1]
C0018941
UMLS CUI [1,2]
C0430022
UMLS CUI [1,3]
C0332307
Diagnosis established through: imaging?
Beskrivning

I.dia_imaging

Datatyp

text

Alias
UMLS CUI [1,1]
C0011923
UMLS CUI [1,2]
C0430022
UMLS CUI [1,3]
C0332307
Diagnosis established through: kidney biopsy?
Beskrivning

I.dia_biopsy

Datatyp

text

Alias
UMLS CUI [1,1]
C0194073
UMLS CUI [1,2]
C0430022
UMLS CUI [1,3]
C0332307
Diagnosis established through: Immunohistochemical analysis?
Beskrivning

I.dia_immunohisto

Datatyp

text

Alias
UMLS CUI [1,1]
C0021044
UMLS CUI [1,2]
C0430022
UMLS CUI [1,3]
C0332307
Diagnosis established through: Skin biopsy?
Beskrivning

I.Skin biopsy

Datatyp

text

Alias
UMLS CUI [1,1]
C0150866
UMLS CUI [1,2]
C0430022
UMLS CUI [1,3]
C0332307
Diagnosis established through: genetic screening?
Beskrivning

I.dia_genetic

Datatyp

text

Alias
UMLS CUI [1,1]
C0813145
UMLS CUI [1,2]
C0430022
UMLS CUI [1,3]
C0332307
Diagnosis established through: other methodologies?
Beskrivning

I.dia_other

Datatyp

text

Alias
UMLS CUI [1,1]
C0205394
UMLS CUI [1,2]
C0430022
Diagnosis established through: ADAMTS13 activity?
Beskrivning

I.dia_oth_adamts13

Datatyp

text

Alias
UMLS CUI [1,1]
C4049227
UMLS CUI [1,2]
C0430022
UMLS CUI [1,3]
C0332307
Diagnosis established through: STEC stool culture?
Beskrivning

I.dia_oth_stec

Datatyp

text

Alias
UMLS CUI [1,1]
C0430414
UMLS CUI [1,2]
C0430022
UMLS CUI [1,3]
C0332307
Diagnosis established through: STX PCR?
Beskrivning

I.dia_oth_stxpcr

Datatyp

text

Alias
UMLS CUI [1,1]
C0032520
UMLS CUI [1,2]
C0430022
UMLS CUI [1,3]
C0332307
Diagnosis established through: Other?
Beskrivning

I.dia_other_specify

Datatyp

text

Alias
UMLS CUI [1,1]
C0205394
UMLS CUI [1,2]
C0430022
Immunological evaluation (Immunomarkers)
Beskrivning

Immunological evaluation (Immunomarkers)

Alias
UMLS CUI [1,1]
C0199972
Serum C3
Beskrivning

I.dia_im_serum_c3

Datatyp

text

Alias
UMLS CUI [1,1]
C2229619
Serum C4
Beskrivning

I.dia_im_serum_c4

Datatyp

text

Alias
UMLS CUI [1,1]
C2097848
Serum IgA
Beskrivning

I.dia_im_serum_iga

Datatyp

text

Alias
UMLS CUI [1,1]
C2229758
dsDNA Antibodies
Beskrivning

I.dia_im_dsdna

Datatyp

text

Alias
UMLS CUI [1,1]
C2747926
ANA
Beskrivning

I.dia_im_ana

Datatyp

text

Alias
UMLS CUI [1,1]
C0587178
Anti-beta2 Glycoprotein IgG antibodies
Beskrivning

I.dia_im_ab2_igg

Datatyp

text

Alias
UMLS CUI [1,1]
C1445861
Anti-beta2 Glycoprotein IgM antibodies
Beskrivning

I.dia_im_ab2_igm

Datatyp

text

Alias
UMLS CUI [1,1]
C1445862
Lupus anticoagulant
Beskrivning

I.dia_im_lupusanti

Datatyp

text

Alias
UMLS CUI [1,1]
C4321325
Anti-Ro (SSA)
Beskrivning

I.dia_im_anti_ro

Datatyp

text

Alias
UMLS CUI [1,1]
C0748972
Anti-RNP
Beskrivning

I.dia_im_anti_rnp

Datatyp

text

Alias
UMLS CUI [1,1]
C0236565
Anti-phospholipid/Anti-cardiolipin antibodies
Beskrivning

I.dia_im_ap_ac

Datatyp

text

Alias
UMLS CUI [1,1]
C0201535
Anti-CCP
Beskrivning

I.dia_im_anti_ccp

Datatyp

text

Alias
UMLS CUI [1,1]
C1610653
RF
Beskrivning

I.dia_im_rf

Datatyp

text

Alias
UMLS CUI [1,1]
C0035448
ACA
Beskrivning

I.dia_im_aca

Datatyp

text

Alias
UMLS CUI [1,1]
C0162596
cANCA
Beskrivning

I.dia_im_canca

Datatyp

text

Alias
UMLS CUI [1,1]
C0201531
pANCA
Beskrivning

I.dia_im_panca

Datatyp

text

Alias
UMLS CUI [1,1]
C0201532
Myeloperoxidase-ANCA
Beskrivning

I.dia_im_mp_anca

Datatyp

text

Alias
UMLS CUI [1,1]
C1139948
Antiproteinase 3-ANCA
Beskrivning

I.dia_im_ap3_anca

Datatyp

text

Alias
UMLS CUI [1,1]
C0201530
UMLS CUI [1,2]
C0443910
PLA2 antibodies
Beskrivning

I.dia_im_pla2

Datatyp

text

Alias
UMLS CUI [1,1]
C0003241
UMLS CUI [1,2]
C0031667
C3 nephritis factor
Beskrivning

I.dia_im_c3_nf

Datatyp

text

Alias
UMLS CUI [1,1]
C5849580
CFH autoantibodies
Beskrivning

I.dia_im_cfh

Datatyp

text

Alias
UMLS CUI [1,1]
C5558375
Anti-scl70
Beskrivning

I.dia_im_anti_scl70

Datatyp

text

Alias
UMLS CUI [1,1]
C1254801
Anti PM-Scl
Beskrivning

I.dia_im_anti_pmscl

Datatyp

text

Alias
UMLS CUI [1,1]
C0443931
Anti-RNA polymerase III
Beskrivning

I.dia_im_anti_rna_poly

Datatyp

text

Alias
UMLS CUI [1,1]
C4761122
Anti-SM
Beskrivning

I.dia_im_anti_sm

Datatyp

text

Alias
UMLS CUI [1,1]
C5421567
Anti-Mi-2
Beskrivning

I.dia_im_anti_mi2

Datatyp

text

Alias
UMLS CUI [1,1]
C0201366
Anti-GBM
Beskrivning

I.dia_im_anti_gbm

Datatyp

text

Alias
UMLS CUI [1,1]
C1328365
Cryoglobulin
Beskrivning

I.dia_im_cryoglobulin

Datatyp

text

Alias
UMLS CUI [1,1]
C0202093
Anti-Jo-1
Beskrivning

I.dia_im_anti_jo1

Datatyp

text

Alias
UMLS CUI [1,1]
C5848854
Homocysteine
Beskrivning

I.dia_im_homocysteine

Datatyp

text

Alias
UMLS CUI [1,1]
C2242817
Other methodologies
Beskrivning

Other methodologies

Alias
UMLS CUI [1,1]
C0205394
UMLS CUI [1,2]
C0430022
ADAMTS13 activitiy
Beskrivning

I.dia_om_adamts13

Datatyp

text

Alias
UMLS CUI [1,1]
C4049227
Shigatoxin PCR
Beskrivning

I.dia_om_shigatoxin

Datatyp

text

Alias
UMLS CUI [1,1]
C0074447
UMLS CUI [1,2]
C0032520
STEC stool culture
Beskrivning

I.dia_om_stec_stool

Datatyp

text

Alias
UMLS CUI [1,1]
C0580794
UMLS CUI [1,2]
C0430414
STEC serum antibodies
Beskrivning

I.dia_om_stec_serum

Datatyp

text

Alias
UMLS CUI [1,1]
C0580794
UMLS CUI [1,2]
C0003241
Other
Beskrivning

I.dia_om_specify

Datatyp

text

Alias
UMLS CUI [1,1]
C0205394
UMLS CUI [1,2]
C0430022
Imaging
Beskrivning

Imaging

Alias
UMLS CUI [1,1]
C0011923
Fetal ultrasound
Beskrivning

I.dia_img_fet_us

Datatyp

text

Alias
UMLS CUI [1,1]
C0521457
UMLS CUI [1,2]
C0041618
Fetal MRI
Beskrivning

I.dia_img_fet_mri

Datatyp

text

Alias
UMLS CUI [1,1]
C0521457
UMLS CUI [1,2]
C0024485
(postnatal) ultrasound
Beskrivning

I.dia_img_us

Datatyp

text

Alias
UMLS CUI [1,1]
C0443281
UMLS CUI [1,2]
C0041618
(postnatal) MRI
Beskrivning

I.dia_img_mri

Datatyp

text

Alias
UMLS CUI [1,1]
C0443281
UMLS CUI [1,2]
C0024485
MCUG 
Beskrivning

I.dia_img_mcug

Datatyp

text

Alias
UMLS CUI [1,1]
C0203123
Nuclear isotope scan
Beskrivning

I.dia_img_nis

Datatyp

text

Alias
UMLS CUI [1,1]
C0034606
UMLS CUI [1,2]
C0412320
CT scan
Beskrivning

I.dia_img_ctscan

Datatyp

text

Alias
UMLS CUI [1,1]
C0040405
Imaging Details (If patient age<2 at time of first visit AND diagnosis hypoplasia OR dysplasia)
Beskrivning

Imaging Details (If patient age<2 at time of first visit AND diagnosis hypoplasia OR dysplasia)

Alias
UMLS CUI [1,1]
C0011923
UMLS CUI [1,2]
C2348235
UMLS CUI [1,3]
C0243069
UMLS CUI [1,4]
C0334044
Date of imaging exam
Beskrivning

I.dia_img_exam_date

Datatyp

date

Alias
UMLS CUI [1,1]
C0011008
UMLS CUI [1,2]
C0011923
Body length in cm (closest measurement to imaging study)
Beskrivning

I.dia_img_body_length

Datatyp

float

Alias
UMLS CUI [1,1]
C0221097
UMLS CUI [1,2]
C0475210
Right kidney size in cm (pole-to-pole length)
Beskrivning

I.dia_img_p2p_right

Datatyp

float

Alias
UMLS CUI [1,1]
C0745522
UMLS CUI [1,2]
C0205090
UMLS CUI [1,3]
C0475210
Left kidney size in cm (pole-to-pole length)
Beskrivning

I.dia_img_p2p_left

Datatyp

float

Alias
UMLS CUI [1,1]
C0745522
UMLS CUI [1,2]
C0205091
UMLS CUI [1,3]
C0475210
Transverse diameter 1 right in cm
Beskrivning

I.dia_img_transv_diam_1_right

Datatyp

float

Alias
UMLS CUI [1,1]
C0227613
UMLS CUI [1,2]
C0552414
UMLS CUI [1,3]
C0475210
Transverse diameter 1 left in cm
Beskrivning

I.dia_img_transv_diam_1_left

Datatyp

float

Alias
UMLS CUI [1,1]
C0227614
UMLS CUI [1,2]
C0552414
UMLS CUI [1,3]
C0475210
Transverse diameter 2 right in cm
Beskrivning

I.dia_img_transv_diam_2_right

Datatyp

float

Alias
UMLS CUI [1,1]
C0227613
UMLS CUI [1,2]
C0552414
UMLS CUI [1,3]
C0475210
Transverse diameter 2 left in cm
Beskrivning

I.dia_img_transv_diam_2_left

Datatyp

float

Alias
UMLS CUI [1,1]
C0227614
UMLS CUI [1,2]
C0552414
UMLS CUI [1,3]
C0475210
Right kidney volume in ml
Beskrivning

I.dia_img_volume_right

Datatyp

float

Alias
UMLS CUI [1,1]
C2827452
UMLS CUI [1,2]
C0227613
UMLS CUI [1,3]
C0439242
Left kidney volume in ml
Beskrivning

I.dia_img_volume_left

Datatyp

float

Alias
UMLS CUI [1,1]
C2827452
UMLS CUI [1,2]
C0227614
UMLS CUI [1,3]
C0439242
Echogenicity of renal parenchyma
Beskrivning

I.dia_img_echogen

Datatyp

text

Alias
UMLS CUI [1,1]
C5194476
Cortico-medullary differentiation
Beskrivning

I.dia_img_cort_med

Datatyp

text

Alias
UMLS CUI [1,1]
C4539905
Kidney cortex thickness
Beskrivning

I.dia_img_cort_thick

Datatyp

text

Alias
UMLS CUI [1,1]
C0439809
UMLS CUI [1,2]
C0022655
Right kidney cortex thickness in cm
Beskrivning

I.dia_img_cort_thick_right

Datatyp

float

Alias
UMLS CUI [1,1]
C0227613
UMLS CUI [1,2]
C0439809
UMLS CUI [1,3]
C0022655
UMLS CUI [1,4]
C0475210
Left kidney cortex thickness in cm
Beskrivning

I.dia_img_cort_thick_left

Datatyp

float

Alias
UMLS CUI [1,1]
C0227614
UMLS CUI [1,2]
C0439809
UMLS CUI [1,3]
C0022655
UMLS CUI [1,4]
C0475210
Kidney cysts
Beskrivning

I.dia_img_cysts

Datatyp

text

Alias
UMLS CUI [1,1]
C3887499
Location of kidney cysts
Beskrivning

I.dia_img_cyst_loc

Datatyp

text

Alias
UMLS CUI [1,1]
C3887499
UMLS CUI [1,2]
C0475264
Other location of kidney cysts
Beskrivning

I.dia_img_cyst_loc_other

Datatyp

text

Alias
UMLS CUI [1,1]
C0205394
UMLS CUI [1,2]
C3887499
UMLS CUI [1,3]
C0475264
Number of cysts in right kidney
Beskrivning

I.dia_img_cyst_n_right

Datatyp

integer

Alias
UMLS CUI [2,1]
C3887499
UMLS CUI [2,2]
C1265611
UMLS CUI [2,3]
C0227613
Number of cysts in left kidney
Beskrivning

I.dia_img_cyst_n_left

Datatyp

integer

Alias
UMLS CUI [1,1]
C3887499
UMLS CUI [1,2]
C1265611
UMLS CUI [1,3]
C0227614
Histopathological diagnosis
Beskrivning

Histopathological diagnosis

Alias
UMLS CUI [1,1]
C0677043
UMLS CUI [1,2]
C0011900
Date of biopsy
Beskrivning

I.his_biopsy_date

Datatyp

date

Alias
UMLS CUI [1,1]
C0011008
UMLS CUI [1,2]
C0005558
Diagnosis
Beskrivning

I.his_diagnosis

Datatyp

text

Alias
UMLS CUI [1,1]
C0011900
Subdiagnosis (depending on diagnosis)
Beskrivning

I.his_subdiagnosis

Datatyp

text

Alias
UMLS CUI [1,1]
C0011900
UMLS CUI [1,2]
C1521902
Immunhistological analysis
Beskrivning

Immunhistological analysis

Alias
UMLS CUI [1,1]
C0021044
Alpha1 done
Beskrivning

I.iha_alpha1_done

Datatyp

text

Alias
UMLS CUI [1,1]
C0301679
Alpha1 result
Beskrivning

I.iha_alpha1_result

Datatyp

text

Alias
UMLS CUI [1,1]
C0301679
UMLS CUI [1,2]
C1274040
Alpha3 done
Beskrivning

I.iha_alpha3_done

Datatyp

text

Alias
UMLS CUI [1,1]
C0297434
Alpha3 result
Beskrivning

I.iha_alpha3_result

Datatyp

text

Alias
UMLS CUI [1,1]
C0297434
UMLS CUI [1,2]
C1274040
Alpha4 done
Beskrivning

I.iha_alpha4_done

Datatyp

text

Alias
UMLS CUI [1,1]
C0252194
Alpha4 result
Beskrivning

I.iha_alpha4_result

Datatyp

text

Alias
UMLS CUI [1,1]
C0252194
UMLS CUI [1,2]
C1274040
Alpha5 done
Beskrivning

I.iha_alpha5_done

Datatyp

text

Alias
UMLS CUI [1,1]
C0298340
Alpha5 result
Beskrivning

I.iha_alpha5_result

Datatyp

text

Alias
UMLS CUI [1,1]
C0298340
UMLS CUI [1,2]
C1274040
Alpha6 done
Beskrivning

I.iha_alpha6_done

Datatyp

text

Alias
UMLS CUI [1,1]
C0289325
Alpha6 result
Beskrivning

I.iha_alpha6_result

Datatyp

text

Alias
UMLS CUI [1,1]
C0289325
UMLS CUI [1,2]
C1274040
Skin biopsy
Beskrivning

Skin biopsy

Alias
UMLS CUI [1,1]
C0150866
Immunohistochemical analysis on skin biopsy
Beskrivning

I.skin_iha

Datatyp

text

Alias
UMLS CUI [1,1]
C0021044
UMLS CUI [1,2]
C0150866
if yes: Date of analysis
Beskrivning

I.skin_iha_date

Datatyp

date

Alias
UMLS CUI [1,1]
C0011008
UMLS CUI [1,2]
C0021044
UMLS CUI [1,3]
C0150866
if yes: Results (ERKNET)
Beskrivning

I.skin_iha_results

Datatyp

text

Alias
UMLS CUI [1,1]
C1274040
UMLS CUI [1,2]
C0021044
UMLS CUI [1,3]
C0150866
Confocal analysis on skin biopsy
Beskrivning

I.skin_cfa

Datatyp

text

Alias
UMLS CUI [1,1]
C0242842
UMLS CUI [1,2]
C0150866
if yes: Date of analysis
Beskrivning

I.skin_cfa_date

Datatyp

date

Alias
UMLS CUI [1,1]
C0011008
UMLS CUI [1,2]
C0242842
UMLS CUI [1,3]
C0150866
if yes: Results (ERKNET)
Beskrivning

I.skin_cfa_results

Datatyp

text

Alias
UMLS CUI [1,1]
C1274040
UMLS CUI [1,2]
C0242842
UMLS CUI [1,3]
C0150866
Genetic diagnosis
Beskrivning

Genetic diagnosis

Alias
UMLS CUI [1,1]
C0596612
Date of screening
Beskrivning

I.gen_scr_date

Datatyp

date

Alias
UMLS CUI [1,1]
C0011008
UMLS CUI [1,2]
C0813145
Was a causative gene abnormality identified?
Beskrivning

I.gen_diagnosis

Datatyp

text

Alias
UMLS CUI [1,1]
C5551567
UMLS CUI [1,2]
C1517478
UMLS CUI [1,3]
C0442726
Date of diagnosis
Beskrivning

I.gen_dia_date

Datatyp

date

Alias
UMLS CUI [1,1]
C2316983
Method: individual gene testing?
Beskrivning

I.gen_scr_igt

Datatyp

text

Alias
UMLS CUI [1,1]
C0430022
UMLS CUI [1,2]
C0870696
Method: NGS gene panel screening?
Beskrivning

I.gen_scr_ngs

Datatyp

text

Alias
UMLS CUI [1,1]
C0430022
UMLS CUI [1,2]
C4287392
Method: exome sequencing?
Beskrivning

I.gen_scr_exseq

Datatyp

text

Alias
UMLS CUI [1,1]
C3640077
UMLS CUI [1,2]
C0430022
Method: CNV-array / MLPA?
Beskrivning

I.gen_scr_cnv

Datatyp

text

Alias
UMLS CUI [1,1]
C0430022
UMLS CUI [1,2]
C0383154
Affected gene (AR)
Beskrivning

I.gen_affected_ar

Datatyp

text

Alias
UMLS CUI [1,1]
C0449642
UMLS CUI [1,2]
C0017337
Zygosity
Beskrivning

I.gen_affected_ar_zygosity

Datatyp

text

Alias
UMLS CUI [1,1]
C1710709
Homozygous: Mutation?
Beskrivning

I.gen_mut_ar_homozygous

Datatyp

text

Alias
UMLS CUI [1,1]
C1521902
UMLS CUI [1,2]
C0026882
UMLS CUI [1,3]
C0019904
Compound heterozygous: Mutation Allele 1?
Beskrivning

I.gen_mut_ar_compound_1

Datatyp

text

Alias
UMLS CUI [1,1]
C1521902
UMLS CUI [1,2]
C0026882
UMLS CUI [1,3]
C4264438
Compound heterozygous: Mutation Allele 2?
Beskrivning

I.gen_mut_ar_compound_2

Datatyp

text

Alias
UMLS CUI [1,1]
C1521902
UMLS CUI [1,2]
C0026882
UMLS CUI [1,3]
C4264438
Affected gene (AD)
Beskrivning

I.gen_affected_ad

Datatyp

text

Alias
UMLS CUI [1,1]
C0449642
UMLS CUI [1,2]
C0017337
Affected gene (AD): Mutation?
Beskrivning

I.gen_mut_xl_heterozygous

Datatyp

text

Alias
UMLS CUI [1,1]
C1521902
UMLS CUI [1,2]
C0026882
UMLS CUI [1,3]
C0449642
UMLS CUI [1,4]
C0017337
Affected gene (MT)
Beskrivning

I.gen_affected_mt

Datatyp

text

Alias
UMLS CUI [1,1]
C0449642
UMLS CUI [1,2]
C0017337
Affected gene (MT): Mutation?
Beskrivning

I.gen_mut_mt_heterozygous

Datatyp

text

Alias
UMLS CUI [1,1]
C0449642
UMLS CUI [1,2]
C0017337
UMLS CUI [1,3]
C1521902
UMLS CUI [1,4]
C0026882
Affected genes 1 (Digenic)
Beskrivning

I.gen_affected_di1

Datatyp

text

Alias
UMLS CUI [1,1]
C0449642
UMLS CUI [1,2]
C0017337
Affected genes 2 (Digenic)
Beskrivning

I.gen_affected_di2

Datatyp

text

Alias
UMLS CUI [1,1]
C0449642
UMLS CUI [1,2]
C0017337
Zygosity 1
Beskrivning

I.gen_affected_di1_zygosity

Datatyp

text

Alias
UMLS CUI [1,1]
C1710709
Zygosity 2
Beskrivning

I.gen_affected_di2_zygosity

Datatyp

text

Alias
UMLS CUI [1,1]
C1710709
Mutation 1
Beskrivning

I.gen_mut_di1_digenic

Datatyp

text

Alias
UMLS CUI [1,1]
C0026882
Mutation 2
Beskrivning

I.gen_mut_di2_digenic

Datatyp

text

Alias
UMLS CUI [1,1]
C0026882
Please specify result of cytogenetic analysis
Beskrivning

I.gen_cyto_result

Datatyp

text

Alias
UMLS CUI [1,1]
C1521902
UMLS CUI [1,2]
C1274040
UMLS CUI [1,3]
C0752095
Please specify genetic abnormality
Beskrivning

I.gen_result

Datatyp

text

Alias
UMLS CUI [1,1]
C1521902
UMLS CUI [1,2]
C0541978
Further comments
Beskrivning

I.gen_comment

Datatyp

text

Alias
UMLS CUI [1,1]
C1830770
Family history
Beskrivning

Family history

Alias
UMLS CUI [1,1]
C0241889
Family members affected?
Beskrivning

I.fam_affected

Datatyp

text

Alias
UMLS CUI [1,1]
C0392760
UMLS CUI [1,2]
C0086282
Did an affected family member suffer from an intracranial aneurysm?
Beskrivning

I.fam_aneurysm

Datatyp

text

Alias
UMLS CUI [1,1]
C0392760
UMLS CUI [1,2]
C0086282
UMLS CUI [1,3]
C0007766
If yes: Was the patient screend for intracranial aneurysm?
Beskrivning

I.fam_aneurysm_screen

Datatyp

text

Alias
UMLS CUI [1,1]
C0392760
UMLS CUI [1,2]
C0086282
UMLS CUI [1,3]
C0007766
UMLS CUI [1,4]
C0220908
eGFR
Beskrivning

eGFR

Alias
UMLS CUI [1,1]
C4524116
eGFR 1 year prior enrolment in ml/min/1.73m² (0-600)
Beskrivning

I.egfr_1y

Datatyp

float

Alias
UMLS CUI [1,1]
C4524116
UMLS CUI [1,2]
C3898100
UMLS CUI [1,3]
C1516879
eGFR 2 year prior enrolment in ml/min/1.73m² (0-600)
Beskrivning

I.egfr_2y

Datatyp

float

Alias
UMLS CUI [1,1]
C4524116
UMLS CUI [1,2]
C5963305
UMLS CUI [1,3]
C1516879
eGFR 3 year prior enrolment in ml/min/1.73m² (0-600)
Beskrivning

I.egfr_3y

Datatyp

float

Alias
UMLS CUI [1,1]
C4524116
UMLS CUI [1,2]
C5959150
UMLS CUI [1,3]
C1516879
eGFR 4 year prior enrolment in ml/min/1.73m² (0-600)
Beskrivning

I.egfr_4y

Datatyp

float

Alias
UMLS CUI [1,1]
C4524116
UMLS CUI [1,2]
C5959151
UMLS CUI [1,3]
C1516879
Termination
Beskrivning

Termination

Alias
UMLS CUI [1,1]
C0030705
UMLS CUI [1,2]
C1522577
UMLS CUI [1,3]
C2746065
Date of final entry
Beskrivning

I.cr_term_date

Datatyp

date

Alias
UMLS CUI [1,1]
C0011008
UMLS CUI [1,2]
C0030705
UMLS CUI [1,3]
C1522577
UMLS CUI [1,4]
C2746065
Reason for end of follow-up
Beskrivning

I.term_reason

Datatyp

text

Alias
UMLS CUI [1,1]
C1549995
UMLS CUI [1,2]
C0030705
UMLS CUI [1,3]
C1522577
UMLS CUI [1,4]
C2746065
if LOF: date
Beskrivning

I.lof_date

Datatyp

date

Alias
UMLS CUI [1,1]
C0011008
UMLS CUI [1,2]
C5570545
UMLS CUI [1,3]
C0745777
if LOF: reason
Beskrivning

I.lof_reason

Datatyp

text

Alias
UMLS CUI [1,1]
C0566251
UMLS CUI [1,2]
C5570545
UMLS CUI [1,3]
C0745777
specify LOF other reason:
Beskrivning

I.lof_reason_specify

Datatyp

text

Alias
UMLS CUI [1,1]
C1521902
UMLS CUI [1,2]
C3840932
UMLS CUI [1,3]
C5570545
UMLS CUI [1,4]
C0745777
if DEATH: date
Beskrivning

I.death_date

Datatyp

date

Alias
UMLS CUI [1,1]
C1148348
if DEATH: reason
Beskrivning

I.death_reason

Datatyp

text

Alias
UMLS CUI [1,1]
C0007465
Transfer data
Beskrivning

Transfer data

Alias
UMLS CUI [1,1]
C0030704
UMLS CUI [1,2]
C1511726
New patient id
Beskrivning

I.new_pat_id

Datatyp

text

Alias
UMLS CUI [1,1]
C0237753
UMLS CUI [1,2]
C0030705
UMLS CUI [1,3]
C0600091
UMLS CUI [1,4]
C0205314
Old patient id
Beskrivning

I.old_pat_id

Datatyp

text

Alias
UMLS CUI [1,1]
C0237753
UMLS CUI [1,2]
C0030705
UMLS CUI [1,3]
C0600091
UMLS CUI [1,4]
C0580836
Date of transfer
Beskrivning

I.trans_date

Datatyp

date

Alias
UMLS CUI [1,1]
C0011008
UMLS CUI [1,2]
C0030704
Status (for Benchmarking / Statistics)
Beskrivning

Status (for Benchmarking / Statistics)

Alias
UMLS CUI [1,1]
C0449438
latest visit: uid
Beskrivning

I.stat_lv_uid

Datatyp

text

Alias
UMLS CUI [1,1]
C0237753
UMLS CUI [1,2]
C0030705
UMLS CUI [1,3]
C0600091
UMLS CUI [1,4]
C5204632
latest visit: date
Beskrivning

I.stat_lv_date

Datatyp

date

Alias
UMLS CUI [1,1]
C1320303
UMLS CUI [1,2]
C5204632
latest visit: age
Beskrivning

I.stat_lv_age

Datatyp

integer

Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C5204632
latest visit: treatment
Beskrivning

I.stat_lv_treatment

Datatyp

text

Alias
UMLS CUI [1,1]
C0087111
UMLS CUI [1,2]
C5204632
latest visit: height_sds
Beskrivning

I.stat_lv_height_sds

Datatyp

float

Alias
UMLS CUI [1,1]
C0489786
UMLS CUI [1,2]
C5204632
latest visit: bmi
Beskrivning

I.stat_lv_bmi

Datatyp

float

Alias
UMLS CUI [1,1]
C1305855
UMLS CUI [1,2]
C5204632
latest visit: bmi_sds
Beskrivning

I.stat_lv_bmi_sds

Datatyp

float

Alias
UMLS CUI [1,1]
C1305855
UMLS CUI [1,2]
C5204632
latest visit: Blood pressure sys
Beskrivning

I.stat_lv_bp_sys

Datatyp

integer

Alias
UMLS CUI [1,1]
C0871470
UMLS CUI [1,2]
C5204632
latest visit: Blood pressure dia
Beskrivning

I.stat_lv_bp_dia

Datatyp

integer

Alias
UMLS CUI [1,1]
C0428883
UMLS CUI [1,2]
C5204632
latest visit: Blood pressure SDS sys
Beskrivning

I.stat_lv_bp_sys_sds

Datatyp

integer

Alias
UMLS CUI [1,1]
C0871470
UMLS CUI [1,2]
C5204632
latest visit: Blood pressure SDS dia
Beskrivning

I.stat_lv_bp_dia_sds

Datatyp

integer

Alias
UMLS CUI [1,1]
C0428883
UMLS CUI [1,2]
C5204632
latest visit: Bicarbonate
Beskrivning

I.stat_lv_sbicarb

Datatyp

float

Alias
UMLS CUI [1,1]
C0202059
UMLS CUI [1,2]
C5204632
latest visit: Cystine
Beskrivning

I.stat_lv_lcystine

Datatyp

float

Alias
UMLS CUI [1,1]
C0546634
UMLS CUI [1,2]
C5204632
latest visit: cystine level obtained?
Beskrivning

I.stat_lv_cystine_done

Datatyp

text

Alias
UMLS CUI [1,1]
C0546634
UMLS CUI [1,2]
C5204632
latest visit: Hemoglobin
Beskrivning

I.stat_lv_hemoglobin

Datatyp

float

Alias
UMLS CUI [1,1]
C0518015
UMLS CUI [1,2]
C5204632
latest visit: serum inorganic phosphorus
Beskrivning

I.stat_lv_lab_phosphorus

Datatyp

float

Alias
UMLS CUI [1,1]
C0523826
UMLS CUI [1,2]
C5204632
latest visit: Potassium
Beskrivning

I.stat_lv_lab_potassium

Datatyp

float

Alias
UMLS CUI [1,1]
C5204632
UMLS CUI [1,2]
C0302353
latest visit: New stones?
Beskrivning

I.stat_lv_new_stones

Datatyp

text

Alias
UMLS CUI [1,1]
C0022650
UMLS CUI [1,2]
C5204632
latest visit: Serum LDL cholesterol
Beskrivning

I.stat_lv_ldl_cholesterol

Datatyp

integer

Alias
UMLS CUI [1,1]
C0428474
UMLS CUI [1,2]
C5204632
latest visit: Statin therapy?
Beskrivning

I.stat_lv_statin_therapy

Datatyp

text

Alias
UMLS CUI [1,1]
C2585159
UMLS CUI [1,2]
C5204632
latest visit: RAS antagonist?
Beskrivning

I.stat_lv_ras_antagonist

Datatyp

text

Alias
UMLS CUI [1,1]
C1514727
UMLS CUI [1,2]
C5204632
latest visit: Does the patient have or is he/she considering to have a child?
Beskrivning

I.stat_lv_pat_child

Datatyp

text

Alias
UMLS CUI [1,1]
C0030550
UMLS CUI [1,2]
C5204632
latest visit: if yes: Was prenatal genetic counseling offered?
Beskrivning

I.stat_lv_pat_child_genetic_counseling

Datatyp

text

Alias
UMLS CUI [1,1]
C1444648
UMLS CUI [1,2]
C1257802
latest visit: a) Angiomyolipoma?
Beskrivning

I.stat_lv_angiomyolipoma

Datatyp

text

Alias
UMLS CUI [1,1]
C0206633
UMLS CUI [1,2]
C5204632
latest visit: b) Neurological disease manifestations (SEGA/Epilepsy)?
Beskrivning

I.stat_lv_neurological_disease

Datatyp

text

Alias
UMLS CUI [1,1]
C0027854
UMLS CUI [1,2]
C0205768
UMLS CUI [1,3]
C0014544
UMLS CUI [1,4]
C5204632
latest vist: if a) or b)=yes : mTOR inhibitor?
Beskrivning

I.stat_lv_mtor_inhibitor

Datatyp

text

Alias
UMLS CUI [1,1]
C2746052
UMLS CUI [1,2]
C5204632
Latest visit: Number of febrile urinary tract infections (last 12 Mo.)
Beskrivning

I.stat_lv_feb_urinary_tract_infect

Datatyp

integer

Alias
UMLS CUI [1,1]
C1265611
UMLS CUI [1,2]
C3875265
UMLS CUI [1,3]
C3887293
Latest visit: Enteral feeding (Pat<3J)
Beskrivning

I.stat_lv_enternal_feed

Datatyp

text

Alias
UMLS CUI [1,1]
C0086225
UMLS CUI [1,2]
C5204632
Latest Visit: Patient on growth hormone (1-16Y, heightSDS< -2)
Beskrivning

I.stat_lv_growth_hormone

Datatyp

text

Alias
UMLS CUI [1,1]
C0744483
UMLS CUI [1,2]
C5204632
latest visit: Audio assessment within last 24 Mo.
Beskrivning

I.stat_lv_audio_assess

Datatyp

text

Alias
UMLS CUI [1,1]
C0018786
UMLS CUI [1,2]
C5959149
latest visit: Proteinuria measurement within last 12 Mo.
Beskrivning

I.stat_lv_protur

Datatyp

text

Alias
UMLS CUI [1,1]
C0033687
UMLS CUI [1,2]
C0242485
UMLS CUI [1,3]
C3887293
latest visit: Proteinuria measurement done since last update (or treatment start)?
Beskrivning

I.stat_lv_protur_done

Datatyp

text

Alias
UMLS CUI [1,1]
C0033687
UMLS CUI [1,2]
C0242485
UMLS CUI [1,3]
C3872643
latest visit: 24h proteinuria (pediatric/adult)
Beskrivning

I.stat_lv_protur_24h

Datatyp

float

Alias
UMLS CUI [1,1]
C1442770
UMLS CUI [1,2]
C0033687
UMLS CUI [1,3]
C1274040
latest visit: Protein/Creatinine
Beskrivning

I.stat_lv_protur_protcrea

Datatyp

float

Alias
UMLS CUI [1,1]
C0201975
UMLS CUI [1,2]
C1274040
latest visit: Dipstick result
Beskrivning

I.stat_lv_protur_dipstick

Datatyp

text

Alias
UMLS CUI [1,1]
C0430370
UMLS CUI [1,2]
C0456984
latest visit: eGFR
Beskrivning

I.stat_lv_egfr

Datatyp

float

Alias
UMLS CUI [1,1]
C4524116
UMLS CUI [1,2]
C1274040
latest visit: CKD (CKD 1-5)
Beskrivning

I.stat_lv_ckd

Datatyp

text

Alias
UMLS CUI [1,1]
C1561643
UMLS CUI [1,2]
C1306673
UMLS CUI [1,3]
C5204632
latest visit: treatment status (C, D, Tn)
Beskrivning

I.stat_lv_treat

Datatyp

text

Alias
UMLS CUI [1,1]
C0749659
UMLS CUI [1,2]
C5204632
latest visit: TX Biopsy done?
Beskrivning

I.stat_lv_tx_biopsy

Datatyp

text

Alias
UMLS CUI [1,1]
C1512699
UMLS CUI [1,2]
C0005558
UMLS CUI [1,3]
C0884358
latest visit: TX Biopsy Result
Beskrivning

I.stat_lv_tx_biopsy_result

Datatyp

text

Alias
UMLS CUI [1,1]
C0005558
UMLS CUI [1,2]
C1274040
latest visit: MRI done?
Beskrivning

I.stat_lv_mri_done

Datatyp

text

Alias
UMLS CUI [1,1]
C0024485
UMLS CUI [1,2]
C5204632
any MRI done? (indicated in Visits)
Beskrivning

I.stat_any_mri

Datatyp

text

Alias
UMLS CUI [1,1]
C0024485
UMLS CUI [1,2]
C0262926
Peritonitis episodes
Beskrivning

I.stat_pd_peritonitis

Datatyp

text

Alias
UMLS CUI [1,1]
C0332189
UMLS CUI [1,2]
C0031154
PD treatment months
Beskrivning

I.stat_pd_trmonths

Datatyp

text

Alias
UMLS CUI [1,1]
C0031139
UMLS CUI [1,2]
C0439231
HD treatment months
Beskrivning

I.stat_hd_trmonths

Datatyp

text

Alias
UMLS CUI [1,1]
C0019004
UMLS CUI [1,2]
C0439231
PD + HD treatment months
Beskrivning

I.stat_d_trmonths

Datatyp

text

Alias
UMLS CUI [1,1]
C0439231
UMLS CUI [1,2]
C0019004
UMLS CUI [1,3]
C0031139
all visits: preemptive TX?
Beskrivning

I.stat_tx_preemptive

Datatyp

text

Alias
UMLS CUI [1,1]
C1456501
UMLS CUI [1,2]
C0022671
interval in Months: first symptoms – diagnosis
Beskrivning

I.stat_fs2dia

Datatyp

float

Alias
UMLS CUI [1,1]
C4086878
UMLS CUI [1,2]
C0011900
UMLS CUI [1,3]
C0872291
interval in Months: first visit – diagnosis
Beskrivning

I.stat_fv2dia

Datatyp

float

Alias
UMLS CUI [1,1]
C5207077
UMLS CUI [1,2]
C0011900
UMLS CUI [1,3]
C0872291
UMLS CUI [1,4]
C0439231
Tillbaka till toppen

Similar models

ERKNet Core Registry: Patient information

23 Formulär
Name
Typ
Description | Question | Decode (Coded Value)
Datatyp
Alias
Item Group
Registry participation
C0034975 (UMLS CUI [1,1])
C0679823 (UMLS CUI [1,2])
I.pat_id
Item
ID
text
C1300638 (UMLS CUI [1,1])
I.erknet_id
Item
ERKNet ID
integer
C1300638 (UMLS CUI [1,1])
C1882071 (UMLS CUI [1,2])
I.center_id
Item
Center
text
C0565990 (UMLS CUI [1,1])
Item
Patient participates in ERKNet Registry
text
C0030699 (UMLS CUI [1,1])
C1882071 (UMLS CUI [1,2])
C0678236 (UMLS CUI [1,3])
C0022658 (UMLS CUI [1,4])
CL.2
Code List
Patient participates in ERKNet Registry
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Patient participates in dRTA Registry
text
C0030699 (UMLS CUI [1,1])
C0034975 (UMLS CUI [1,2])
C1704380 (UMLS CUI [1,3])
CL.2
Code List
Patient participates in dRTA Registry
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Patient participates in Alport Registry
text
C0030699 (UMLS CUI [1,1])
C0034975 (UMLS CUI [1,2])
C1567741 (UMLS CUI [1,3])
CL.2
Code List
Patient participates in Alport Registry
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Patient participates in SLE Registry
text
C0030699 (UMLS CUI [1,1])
C0034975 (UMLS CUI [1,2])
C0024141 (UMLS CUI [1,3])
CL.2
Code List
Patient participates in SLE Registry
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Patient participates in Cystinuria Registry
text
C0030699 (UMLS CUI [1,1])
C0034975 (UMLS CUI [1,2])
C0010691 (UMLS CUI [1,3])
CL.2
Code List
Patient participates in Cystinuria Registry
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Patient pariticipates in Bartter Registry
text
C0030699 (UMLS CUI [1,1])
C0034975 (UMLS CUI [1,2])
C0004775 (UMLS CUI [1,3])
CL.2
Code List
Patient pariticipates in Bartter Registry
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Patient participates in EsCapeKD cohort study
text
C0030699 (UMLS CUI [1,1])
C0034975 (UMLS CUI [1,2])
C1561643 (UMLS CUI [1,3])
CL.2
Code List
Patient participates in EsCapeKD cohort study
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Patient participates in CompCure Registry
text
C0030699 (UMLS CUI [1,1])
C0034975 (UMLS CUI [1,2])
C4087273 (UMLS CUI [1,3])
C5849428 (UMLS CUI [1,4])
CL.2
Code List
Patient participates in CompCure Registry
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item Group
Basic data
C1955348 (UMLS CUI [1,1])
I.ark_unit
Item
Center unit
text
C0565990 (UMLS CUI [1,1])
I.ark_date
Item
Date of informed consent
date
C2985782 (UMLS CUI [1,1])
Item
Consent to coded data being included in one or more ERN database or registry
text
C0021430 (UMLS CUI [1,1])
C1882071 (UMLS CUI [1,2])
C0034975 (UMLS CUI [1,3])
C5784362 (UMLS CUI [1,4])
CL.2
Code List
Consent to coded data being included in one or more ERN database or registry
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Consent to data being shared for clinical care
text
C0021430 (UMLS CUI [1,1])
C5784362 (UMLS CUI [1,2])
C1552226 (UMLS CUI [1,3])
CL.2
Code List
Consent to data being shared for clinical care
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Consent to being contacted about research projects
text
C0021430 (UMLS CUI [1,1])
C2051501 (UMLS CUI [1,2])
C5984819 (UMLS CUI [1,3])
CL.2
Code List
Consent to being contacted about research projects
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Consent to pseudonymized data being shared to support commercial projects aimed to improve healthcare
text
C0021430 (UMLS CUI [1,1])
C3858753 (UMLS CUI [1,2])
C2707520 (UMLS CUI [1,3])
C5784362 (UMLS CUI [1,4])
C0680536 (UMLS CUI [1,5])
C0557829 (UMLS CUI [1,6])
CL.2
Code List
Consent to pseudonymized data being shared to support commercial projects aimed to improve healthcare
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item Group
Basic data
C1955348 (UMLS CUI [1,1])
Item
Sex
text
C1522384 (UMLS CUI [1,1])
CL.3
Code List
Sex
CL Item
Male (M)
C1706180 (UMLS CUI [1,1])
CL Item
Female (F)
C0086287 (UMLS CUI [1,1])
I.birthdate
Item
Birthdate
date
C0421451 (UMLS CUI [1,1])
I.current_age
Item
Age at the time of the last visit or at the time of the export
float
C0001779 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
Item
Ethnicity
text
C0015031 (UMLS CUI [1,1])
CL.4
Code List
Ethnicity
CL Item
European (1)
C0043157 (UMLS CUI [1,1])
CL Item
East Asian (2)
C4540996 (UMLS CUI [1,1])
CL Item
Hispanic (3)
C0086409 (UMLS CUI [1,1])
CL Item
Indian (4)
C1524069 (UMLS CUI [1,1])
CL Item
Arabic (5)
C0238604 (UMLS CUI [1,1])
C2698217 (UMLS CUI [1,2])
CL Item
African / African American (6)
C0085756 (UMLS CUI [1,1])
C0027567 (UMLS CUI [1,2])
CL Item
other (7)
C0205394 (UMLS CUI [1,1])
C0015031 (UMLS CUI [1,2])
CL Item
unknown (8)
C0439673 (UMLS CUI [1,1])
C0015031 (UMLS CUI [1,2])
I.ethnicity_other
Item
if other:
text
C1521902 (UMLS CUI [1,1])
C0205394 (UMLS CUI [1,2])
C0015031 (UMLS CUI [1,3])
I.first_symptoms_date
Item
Date of first symptoms
date
C1457887 (UMLS CUI [1,1])
C0011008 (UMLS CUI [1,2])
C0449990 (UMLS CUI [1,3])
I.first_visit_date
Item
Date of first presentation to center
date
C1320303 (UMLS CUI [1,1])
C0205435 (UMLS CUI [1,2])
C0040223 (UMLS CUI [1,3])
Item
Renal diagnosis established? 
text
C0022658 (UMLS CUI [1,1])
C1512698 (UMLS CUI [1,2])
CL.2
Code List
Renal diagnosis established? 
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
I.symptoms_group
Item
If No: Signs and symptoms compatible with
integer
C0037088 (UMLS CUI [1,1])
C0022658 (UMLS CUI [1,2])
C1521902 (UMLS CUI [1,3])
I.diagnosis
Item
Diagnosis
float
C0011900 (UMLS CUI [1,1])
I.dis_group
Item
Disease group
integer
C0012634 (UMLS CUI [1,1])
C0441833 (UMLS CUI [1,2])
C0600091 (UMLS CUI [1,3])
I.diagnosis_path
Item
Diagnosis path (full path of diagnosis)
text
C0430022 (UMLS CUI [1,1])
C0262926 (UMLS CUI [1,2])
I.syndromic_disorder
Item
If diseasegroup='Renal or urinary tract malformation'
float
C4551596 (UMLS CUI [1,1])
C5681584 (UMLS CUI [1,2])
I.syndromic_disorder_spec
Item
Further specifications
text
C1830770 (UMLS CUI [1,1])
Item
Has the patient a secondary diagnosis?
text
C0332138 (UMLS CUI [1,1])
C1522602 (UMLS CUI [1,2])
CL.2
Code List
Has the patient a secondary diagnosis?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
I.diagnosis2nd
Item
Secondary diagnosis:
float
C0332138 (UMLS CUI [1,1])
C1521902 (UMLS CUI [1,2])
I.dia_date
Item
When was the diagnosis considered confirmed?
date
C0011008 (UMLS CUI [1,1])
C0011900 (UMLS CUI [1,2])
C0750484 (UMLS CUI [1,3])
Item
Diagnosis established through: clinical history?
text
C0262926 (UMLS CUI [1,1])
C0430022 (UMLS CUI [1,2])
C1521902 (UMLS CUI [1,3])
CL.2
Code List
Diagnosis established through: clinical history?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Diagnosis established through: positive family history?
text
C0430022 (UMLS CUI [1,1])
C0332307 (UMLS CUI [1,2])
C0241889 (UMLS CUI [1,3])
CL.2
Code List
Diagnosis established through: positive family history?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Diagnosis established through: clinical examination?
text
C1456356 (UMLS CUI [1,1])
C0430022 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,3])
CL.2
Code List
Diagnosis established through: clinical examination?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Diagnosis established through: biochemical evaluation?
text
C0428132 (UMLS CUI [1,1])
C0430022 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,3])
CL.2
Code List
Diagnosis established through: biochemical evaluation?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Diagnosis established through: immunological evaluation?
text
C0205470 (UMLS CUI [1,1])
C0220825 (UMLS CUI [1,2])
C0430022 (UMLS CUI [1,3])
C0332307 (UMLS CUI [1,4])
CL.2
Code List
Diagnosis established through: immunological evaluation?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Diagnosis established through: CFH autoantibodies?
text
C0430022 (UMLS CUI [1,1])
C0332307 (UMLS CUI [1,2])
C5558375 (UMLS CUI [1,3])
CL.2
Code List
Diagnosis established through: CFH autoantibodies?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Diagnosis established through: hematological evaluation?
text
C0018941 (UMLS CUI [1,1])
C0430022 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,3])
CL.2
Code List
Diagnosis established through: hematological evaluation?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Diagnosis established through: imaging?
text
C0011923 (UMLS CUI [1,1])
C0430022 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,3])
CL.2
Code List
Diagnosis established through: imaging?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Diagnosis established through: kidney biopsy?
text
C0194073 (UMLS CUI [1,1])
C0430022 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,3])
CL.2
Code List
Diagnosis established through: kidney biopsy?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Diagnosis established through: Immunohistochemical analysis?
text
C0021044 (UMLS CUI [1,1])
C0430022 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,3])
CL.2
Code List
Diagnosis established through: Immunohistochemical analysis?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Diagnosis established through: Skin biopsy?
text
C0150866 (UMLS CUI [1,1])
C0430022 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,3])
CL.2
Code List
Diagnosis established through: Skin biopsy?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Diagnosis established through: genetic screening?
text
C0813145 (UMLS CUI [1,1])
C0430022 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,3])
CL.2
Code List
Diagnosis established through: genetic screening?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Diagnosis established through: other methodologies?
text
C0205394 (UMLS CUI [1,1])
C0430022 (UMLS CUI [1,2])
CL.2
Code List
Diagnosis established through: other methodologies?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Diagnosis established through: ADAMTS13 activity?
text
C4049227 (UMLS CUI [1,1])
C0430022 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,3])
CL.2
Code List
Diagnosis established through: ADAMTS13 activity?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Diagnosis established through: STEC stool culture?
text
C0430414 (UMLS CUI [1,1])
C0430022 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,3])
CL.2
Code List
Diagnosis established through: STEC stool culture?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Diagnosis established through: STX PCR?
text
C0032520 (UMLS CUI [1,1])
C0430022 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,3])
CL.2
Code List
Diagnosis established through: STX PCR?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Diagnosis established through: Other?
text
C0205394 (UMLS CUI [1,1])
C0430022 (UMLS CUI [1,2])
CL.2
Code List
Diagnosis established through: Other?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item Group
Immunological evaluation (Immunomarkers)
C0199972 (UMLS CUI [1,1])
Item
Serum C3
text
C2229619 (UMLS CUI [1,1])
CL.5
Code List
Serum C3
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
normal (0)
C0205307 (UMLS CUI [1,1])
CL Item
low (1)
C0205251 (UMLS CUI [1,1])
CL Item
elevated (2)
C0205250 (UMLS CUI [1,1])
Item
Serum C4
text
C2097848 (UMLS CUI [1,1])
CL.5
Code List
Serum C4
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
normal (0)
C0205307 (UMLS CUI [1,1])
CL Item
low (1)
C0205251 (UMLS CUI [1,1])
CL Item
elevated (2)
C0205250 (UMLS CUI [1,1])
Item
Serum IgA
text
C2229758 (UMLS CUI [1,1])
CL.5
Code List
Serum IgA
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
normal (0)
C0205307 (UMLS CUI [1,1])
CL Item
elevated (2)
C0205250 (UMLS CUI [1,1])
Item
dsDNA Antibodies
text
C2747926 (UMLS CUI [1,1])
CL.7
Code List
dsDNA Antibodies
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
Item
ANA
text
C0587178 (UMLS CUI [1,1])
CL.7
Code List
ANA
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
Item
Anti-beta2 Glycoprotein IgG antibodies
text
C1445861 (UMLS CUI [1,1])
CL.7
Code List
Anti-beta2 Glycoprotein IgG antibodies
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive/low (1)
C1446409 (UMLS CUI [1,1])
C0205251 (UMLS CUI [1,2])
Item
Anti-beta2 Glycoprotein IgM antibodies
text
C1445862 (UMLS CUI [1,1])
CL.7
Code List
Anti-beta2 Glycoprotein IgM antibodies
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive/low (1)
C1446409 (UMLS CUI [1,1])
C0205251 (UMLS CUI [1,2])
Item
Lupus anticoagulant
text
C4321325 (UMLS CUI [1,1])
CL.7
Code List
Lupus anticoagulant
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive/low (1)
C1446409 (UMLS CUI [1,1])
C0205251 (UMLS CUI [1,2])
Item
Anti-Ro (SSA)
text
C0748972 (UMLS CUI [1,1])
CL.7
Code List
Anti-Ro (SSA)
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
Item
Anti-RNP
text
C0236565 (UMLS CUI [1,1])
CL.7
Code List
Anti-RNP
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
Item
Anti-phospholipid/Anti-cardiolipin antibodies
text
C0201535 (UMLS CUI [1,1])
CL.7
Code List
Anti-phospholipid/Anti-cardiolipin antibodies
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
Item
Anti-CCP
text
C1610653 (UMLS CUI [1,1])
CL.7
Code List
Anti-CCP
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
Item
RF
text
C0035448 (UMLS CUI [1,1])
CL.7
Code List
RF
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
Item
ACA
text
C0162596 (UMLS CUI [1,1])
CL.7
Code List
ACA
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
Item
cANCA
text
C0201531 (UMLS CUI [1,1])
CL.7
Code List
cANCA
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
Item
pANCA
text
C0201532 (UMLS CUI [1,1])
CL.7
Code List
pANCA
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
Item
Myeloperoxidase-ANCA
text
C1139948 (UMLS CUI [1,1])
CL.7
Code List
Myeloperoxidase-ANCA
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
Item
Antiproteinase 3-ANCA
text
C0201530 (UMLS CUI [1,1])
C0443910 (UMLS CUI [1,2])
CL.7
Code List
Antiproteinase 3-ANCA
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
Item
PLA2 antibodies
text
C0003241 (UMLS CUI [1,1])
C0031667 (UMLS CUI [1,2])
CL.7
Code List
PLA2 antibodies
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
Item
C3 nephritis factor
text
C5849580 (UMLS CUI [1,1])
CL.7
Code List
C3 nephritis factor
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
Item
CFH autoantibodies
text
C5558375 (UMLS CUI [1,1])
CL.7
Code List
CFH autoantibodies
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
Item
Anti-scl70
text
C1254801 (UMLS CUI [1,1])
CL.7
Code List
Anti-scl70
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
Item
Anti PM-Scl
text
C0443931 (UMLS CUI [1,1])
CL.7
Code List
Anti PM-Scl
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
Item
Anti-RNA polymerase III
text
C4761122 (UMLS CUI [1,1])
CL.7
Code List
Anti-RNA polymerase III
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
Item
Anti-SM
text
C5421567 (UMLS CUI [1,1])
CL.7
Code List
Anti-SM
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
Item
Anti-Mi-2
text
C0201366 (UMLS CUI [1,1])
CL.7
Code List
Anti-Mi-2
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
Item
Anti-GBM
text
C1328365 (UMLS CUI [1,1])
CL.7
Code List
Anti-GBM
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
Item
Cryoglobulin
text
C0202093 (UMLS CUI [1,1])
CL.7
Code List
Cryoglobulin
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
Item
Anti-Jo-1
text
C5848854 (UMLS CUI [1,1])
CL.7
Code List
Anti-Jo-1
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
Item
Homocysteine
text
C2242817 (UMLS CUI [1,1])
CL.9
Code List
Homocysteine
CL Item
Not tested (99)
CL Item
Elevated (2)
Item Group
Other methodologies
C0205394 (UMLS CUI [1,1])
C0430022 (UMLS CUI [1,2])
Item
ADAMTS13 activitiy
text
C4049227 (UMLS CUI [1,1])
CL.10
Code List
ADAMTS13 activitiy
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
<10% (1)
C0439092 (UMLS CUI [1,1])
C3842590 (UMLS CUI [1,2])
CL Item
10-100% (2)
C3842590 (UMLS CUI [1,1])
C3817553 (UMLS CUI [1,2])
Item
Shigatoxin PCR
text
C0074447 (UMLS CUI [1,1])
C0032520 (UMLS CUI [1,2])
CL.7
Code List
Shigatoxin PCR
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
Item
STEC stool culture
text
C0580794 (UMLS CUI [1,1])
C0430414 (UMLS CUI [1,2])
CL.7
Code List
STEC stool culture
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
Item
STEC serum antibodies
text
C0580794 (UMLS CUI [1,1])
C0003241 (UMLS CUI [1,2])
CL.7
Code List
STEC serum antibodies
CL Item
Not tested (99)
C3640292 (UMLS CUI [1,1])
CL Item
negative (0)
C1513916 (UMLS CUI [1,1])
CL Item
positive (1)
C1446409 (UMLS CUI [1,1])
I.dia_om_specify
Item
Other
text
C0205394 (UMLS CUI [1,1])
C0430022 (UMLS CUI [1,2])
Item Group
Imaging
C0011923 (UMLS CUI [1,1])
Item
Fetal ultrasound
text
C0521457 (UMLS CUI [1,1])
C0041618 (UMLS CUI [1,2])
CL.2
Code List
Fetal ultrasound
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Fetal MRI
text
C0521457 (UMLS CUI [1,1])
C0024485 (UMLS CUI [1,2])
CL.2
Code List
Fetal MRI
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
(postnatal) ultrasound
text
C0443281 (UMLS CUI [1,1])
C0041618 (UMLS CUI [1,2])
CL.2
Code List
(postnatal) ultrasound
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
(postnatal) MRI
text
C0443281 (UMLS CUI [1,1])
C0024485 (UMLS CUI [1,2])
CL.2
Code List
(postnatal) MRI
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
MCUG 
text
C0203123 (UMLS CUI [1,1])
CL.2
Code List
MCUG 
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Nuclear isotope scan
text
C0034606 (UMLS CUI [1,1])
C0412320 (UMLS CUI [1,2])
CL.2
Code List
Nuclear isotope scan
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
CT scan
text
C0040405 (UMLS CUI [1,1])
CL.2
Code List
CT scan
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item Group
Imaging Details (If patient age<2 at time of first visit AND diagnosis hypoplasia OR dysplasia)
C0011923 (UMLS CUI [1,1])
C2348235 (UMLS CUI [1,2])
C0243069 (UMLS CUI [1,3])
C0334044 (UMLS CUI [1,4])
I.dia_img_exam_date
Item
Date of imaging exam
date
C0011008 (UMLS CUI [1,1])
C0011923 (UMLS CUI [1,2])
I.dia_img_body_length
Item
Body length in cm (closest measurement to imaging study)
float
C0221097 (UMLS CUI [1,1])
C0475210 (UMLS CUI [1,2])
I.dia_img_p2p_right
Item
Right kidney size in cm (pole-to-pole length)
float
C0745522 (UMLS CUI [1,1])
C0205090 (UMLS CUI [1,2])
C0475210 (UMLS CUI [1,3])
I.dia_img_p2p_left
Item
Left kidney size in cm (pole-to-pole length)
float
C0745522 (UMLS CUI [1,1])
C0205091 (UMLS CUI [1,2])
C0475210 (UMLS CUI [1,3])
I.dia_img_transv_diam_1_right
Item
Transverse diameter 1 right in cm
float
C0227613 (UMLS CUI [1,1])
C0552414 (UMLS CUI [1,2])
C0475210 (UMLS CUI [1,3])
I.dia_img_transv_diam_1_left
Item
Transverse diameter 1 left in cm
float
C0227614 (UMLS CUI [1,1])
C0552414 (UMLS CUI [1,2])
C0475210 (UMLS CUI [1,3])
I.dia_img_transv_diam_2_right
Item
Transverse diameter 2 right in cm
float
C0227613 (UMLS CUI [1,1])
C0552414 (UMLS CUI [1,2])
C0475210 (UMLS CUI [1,3])
I.dia_img_transv_diam_2_left
Item
Transverse diameter 2 left in cm
float
C0227614 (UMLS CUI [1,1])
C0552414 (UMLS CUI [1,2])
C0475210 (UMLS CUI [1,3])
I.dia_img_volume_right
Item
Right kidney volume in ml
float
C2827452 (UMLS CUI [1,1])
C0227613 (UMLS CUI [1,2])
C0439242 (UMLS CUI [1,3])
I.dia_img_volume_left
Item
Left kidney volume in ml
float
C2827452 (UMLS CUI [1,1])
C0227614 (UMLS CUI [1,2])
C0439242 (UMLS CUI [1,3])
Item
Echogenicity of renal parenchyma
text
C5194476 (UMLS CUI [1,1])
CL.11
Code List
Echogenicity of renal parenchyma
CL Item
Reduced (R)
C0392756 (UMLS CUI [1,1])
C5194476 (UMLS CUI [1,2])
CL Item
Normal (N)
C0205307 (UMLS CUI [1,1])
C5194476 (UMLS CUI [1,2])
CL Item
Increased (I)
C5194476 (UMLS CUI [1,1])
C1849402 (UMLS CUI [1,2])
Item
Cortico-medullary differentiation
text
C4539905 (UMLS CUI [1,1])
CL.11
Code List
Cortico-medullary differentiation
CL Item
Reduced (R)
C0392756 (UMLS CUI [1,1])
CL Item
Normal (N)
C0205307 (UMLS CUI [1,1])
CL Item
Abrogated (A)
C4539905 (UMLS CUI [1,1])
CL Item
Unknown (U)
C0439673 (UMLS CUI [1,1])
Item
Kidney cortex thickness
text
C0439809 (UMLS CUI [1,1])
C0022655 (UMLS CUI [1,2])
CL.13
Code List
Kidney cortex thickness
CL Item
Reduced (R)
C0392756 (UMLS CUI [1,1])
CL Item
Normal (N)
C0205307 (UMLS CUI [1,1])
CL Item
Unknown (U)
C0439673 (UMLS CUI [1,1])
I.dia_img_cort_thick_right
Item
Right kidney cortex thickness in cm
float
C0227613 (UMLS CUI [1,1])
C0439809 (UMLS CUI [1,2])
C0022655 (UMLS CUI [1,3])
C0475210 (UMLS CUI [1,4])
I.dia_img_cort_thick_left
Item
Left kidney cortex thickness in cm
float
C0227614 (UMLS CUI [1,1])
C0439809 (UMLS CUI [1,2])
C0022655 (UMLS CUI [1,3])
C0475210 (UMLS CUI [1,4])
Item
Kidney cysts
text
C3887499 (UMLS CUI [1,1])
CL.14
Code List
Kidney cysts
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C1705108 (UMLS CUI [1,1])
CL Item
Unknown (9)
C0439673 (UMLS CUI [1,1])
Item
Location of kidney cysts
text
C3887499 (UMLS CUI [1,1])
C0475264 (UMLS CUI [1,2])
CL.15
Code List
Location of kidney cysts
CL Item
Cortical (1)
C0022655 (UMLS CUI [1,1])
CL Item
Medullary (2)
C0022664 (UMLS CUI [1,1])
CL Item
Ubiquitious (3)
C0332261 (UMLS CUI [1,1])
CL Item
Cortico-medullary border  (4)
C0022655 (UMLS CUI [1,1])
C0022664 (UMLS CUI [1,2])
C1522411 (UMLS CUI [1,3])
CL Item
Unknown (9)
C0439673 (UMLS CUI [1,1])
CL Item
Other (0)
C0205394 (UMLS CUI [1,1])
I.dia_img_cyst_loc_other
Item
Other location of kidney cysts
text
C0205394 (UMLS CUI [1,1])
C3887499 (UMLS CUI [1,2])
C0475264 (UMLS CUI [1,3])
I.dia_img_cyst_n_right
Item
Number of cysts in right kidney
integer
C3887499 (UMLS CUI [2,1])
C1265611 (UMLS CUI [2,2])
C0227613 (UMLS CUI [2,3])
I.dia_img_cyst_n_left
Item
Number of cysts in left kidney
integer
C3887499 (UMLS CUI [1,1])
C1265611 (UMLS CUI [1,2])
C0227614 (UMLS CUI [1,3])
Item Group
Histopathological diagnosis
C0677043 (UMLS CUI [1,1])
C0011900 (UMLS CUI [1,2])
I.his_biopsy_date
Item
Date of biopsy
date
C0011008 (UMLS CUI [1,1])
C0005558 (UMLS CUI [1,2])
Item
Diagnosis
text
C0011900 (UMLS CUI [1,1])
CL.16
Code List
Diagnosis
CL Item
Minimal change nephropathy (1)
C5883655 (UMLS CUI [1,1])
CL Item
Focal segmental glomerulosclerosis (2)
C0403426 (UMLS CUI [1,1])
CL Item
Global glomerulosclerosis (3)
C1865276 (UMLS CUI [1,1])
CL Item
Diffuse mesangial sclerosis (4)
C0268747 (UMLS CUI [1,1])
CL Item
Membranous glomerulonephritis (5)
C0017665 (UMLS CUI [1,1])
CL Item
Membranoproliferative glomerulonephritis (6)
C0017662 (UMLS CUI [1,1])
CL Item
Dense deposit disease (7)
C0495042 (UMLS CUI [1,1])
CL Item
Crescentic glomerulonephritis (8)
C0403416 (UMLS CUI [1,1])
CL Item
Necrotizing glomerulonephritis (9)
C0268750 (UMLS CUI [1,1])
CL Item
IgA glomerulonephritis (10)
C0017661 (UMLS CUI [1,1])
CL Item
Thin basement membrane disease (11)
C1739392 (UMLS CUI [1,1])
CL Item
Basement membrane splitting consistent with Alport syndrome (12)
C3554332 (UMLS CUI [1,1])
C1567741 (UMLS CUI [1,2])
CL Item
Cytoplasmic vacuolation consistent with Fabry disease (13)
C4048267 (UMLS CUI [1,1])
C0002986 (UMLS CUI [1,2])
CL Item
Fibronectin glomerulopathy (14)
C3888104 (UMLS CUI [1,1])
CL Item
Lipoprotein glomerulopathy (15)
C2673196 (UMLS CUI [1,1])
CL Item
Pauciimmune glomerulonephritis (16)
C0343196 (UMLS CUI [1,1])
CL Item
Lupus glomerulonephritis (17)
C0024143 (UMLS CUI [1,1])
CL Item
Anti-glomerular basement membrane antibody mediated disease (18)
C0403529 (UMLS CUI [1,1])
CL Item
Amyoidosis associated glomerulopathy (19)
C5681300 (UMLS CUI [1,1])
CL Item
Immunoglobulin deposition nephropathy (20)
C1512663 (UMLS CUI [1,1])
C0022658 (UMLS CUI [1,2])
CL Item
Acute tubulo-interstitial nephritis (21)
C1843274 (UMLS CUI [1,1])
CL Item
Chronic tubulo-interstitial nephritis (22)
C0238304 (UMLS CUI [1,1])
CL Item
Thrombotic microangiopathy (23)
C2717961 (UMLS CUI [1,1])
CL Item
Renal dysplasia (24)
C3536714 (UMLS CUI [1,1])
CL Item
Mesangial profilerative glomerulonephritis (25)
C0221238 (UMLS CUI [1,1])
Item
Subdiagnosis (depending on diagnosis)
text
C0011900 (UMLS CUI [1,1])
C1521902 (UMLS CUI [1,2])
CL.17
Code List
Subdiagnosis (depending on diagnosis)
CL Item
Focal segmental glomerulosclerosis - Collapsing subtype (2.1)
C4054945 (UMLS CUI [1,1])
CL Item
Focal segmental glomerulosclerosis - Tip lesion subtype (2.2)
C4054943 (UMLS CUI [1,1])
CL Item
Focal segmental glomerulosclerosis - Hilar subtype (2.3)
C4551527 (UMLS CUI [1,1])
C0205150 (UMLS CUI [1,2])
CL Item
Crescentic glomerulonephritis - Acute cellular (8.1)
C0403416 (UMLS CUI [1,1])
C0877453 (UMLS CUI [1,2])
CL Item
Crescentic glomerulonephritis - Chronic fibrotic (8.2)
C0403416 (UMLS CUI [1,1])
C0334133 (UMLS CUI [1,2])
CL Item
Amyoidosis associated glomerulopathy - Amyloid AL (19.1)
C5681300 (UMLS CUI [1,1])
C0051783 (UMLS CUI [1,2])
CL Item
Amyoidosis associated glomerulopathy - Amyloid AA (19.2)
C5681300 (UMLS CUI [1,1])
C0002722 (UMLS CUI [1,2])
CL Item
Immunoglobulin deposition nephropathy - Monoclonal immunoglobulin deposition (20.1)
C5394673 (UMLS CUI [1,1])
CL Item
Immunoglobulin deposition nephropathy - Heavy chain deposition (20.2)
C1512361 (UMLS CUI [1,1])
CL Item
Immunoglobulin deposition nephropathy - Light chain deposition (20.3)
C1517882 (UMLS CUI [1,1])
CL Item
Immunoglobulin deposition nephropathy - Light and heavy chain deposition (20.4)
C5204117 (UMLS CUI [1,1])
CL Item
Immunoglobulin deposition nephropathy - Fibrillary glomerulonephritis (20.5)
C2939462 (UMLS CUI [1,1])
C0268749 (UMLS CUI [1,2])
CL Item
Immunoglobulin deposition nephropathy - Immunotactoid glomerulonephritis (20.6)
C2939462 (UMLS CUI [1,1])
C2242534 (UMLS CUI [1,2])
CL Item
Thrombotic microangiopathy - glomerular type (23.1)
C2717961 (UMLS CUI [1,1])
C0268731 (UMLS CUI [1,2])
CL Item
Thrombotic microangiopathy - capillary type (23.2)
C2717961 (UMLS CUI [1,1])
C0006901 (UMLS CUI [1,2])
CL Item
Thrombotic microangiopathy - mixed type (23.3)
C2717961 (UMLS CUI [1,1])
C0205430 (UMLS CUI [1,2])
C0332307 (UMLS CUI [1,3])
CL Item
not further specified (999)
C0439673 (UMLS CUI [1,1])
Item Group
Immunhistological analysis
C0021044 (UMLS CUI [1,1])
Item
Alpha1 done
text
C0301679 (UMLS CUI [1,1])
CL.2
Code List
Alpha1 done
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Alpha1 result
text
C0301679 (UMLS CUI [1,1])
C1274040 (UMLS CUI [1,2])
CL.18
Code List
Alpha1 result
CL Item
normal (0)
C0205307 (UMLS CUI [1,1])
CL Item
segmental (1)
C0205122 (UMLS CUI [1,1])
CL Item
absent (2)
C0332197 (UMLS CUI [1,1])
Item
Alpha3 done
text
C0297434 (UMLS CUI [1,1])
CL.2
Code List
Alpha3 done
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Alpha3 result
text
C0297434 (UMLS CUI [1,1])
C1274040 (UMLS CUI [1,2])
CL.18
Code List
Alpha3 result
CL Item
normal (0)
C0205307 (UMLS CUI [1,1])
CL Item
segmental (1)
C0205122 (UMLS CUI [1,1])
CL Item
absent (2)
C0332197 (UMLS CUI [1,1])
Item
Alpha4 done
text
C0252194 (UMLS CUI [1,1])
CL.2
Code List
Alpha4 done
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Alpha4 result
text
C0252194 (UMLS CUI [1,1])
C1274040 (UMLS CUI [1,2])
CL.18
Code List
Alpha4 result
CL Item
normal (0)
C0205307 (UMLS CUI [1,1])
CL Item
segmental (1)
C0205122 (UMLS CUI [1,1])
CL Item
absent (2)
C0332197 (UMLS CUI [1,1])
Item
Alpha5 done
text
C0298340 (UMLS CUI [1,1])
CL.2
Code List
Alpha5 done
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Alpha5 result
text
C0298340 (UMLS CUI [1,1])
C1274040 (UMLS CUI [1,2])
CL.18
Code List
Alpha5 result
CL Item
normal (0)
C0205307 (UMLS CUI [1,1])
CL Item
segmental (1)
C0205122 (UMLS CUI [1,1])
CL Item
absent (2)
C0332197 (UMLS CUI [1,1])
Item
Alpha6 done
text
C0289325 (UMLS CUI [1,1])
CL.2
Code List
Alpha6 done
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Alpha6 result
text
C0289325 (UMLS CUI [1,1])
C1274040 (UMLS CUI [1,2])
CL.18
Code List
Alpha6 result
CL Item
normal (0)
C0205307 (UMLS CUI [1,1])
CL Item
segmental (1)
C0205122 (UMLS CUI [1,1])
CL Item
absent (2)
C0332197 (UMLS CUI [1,1])
Item Group
Skin biopsy
C0150866 (UMLS CUI [1,1])
Item
Immunohistochemical analysis on skin biopsy
text
C0021044 (UMLS CUI [1,1])
C0150866 (UMLS CUI [1,2])
CL.2
Code List
Immunohistochemical analysis on skin biopsy
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
I.skin_iha_date
Item
if yes: Date of analysis
date
C0011008 (UMLS CUI [1,1])
C0021044 (UMLS CUI [1,2])
C0150866 (UMLS CUI [1,3])
I.skin_iha_results
Item
if yes: Results (ERKNET)
text
C1274040 (UMLS CUI [1,1])
C0021044 (UMLS CUI [1,2])
C0150866 (UMLS CUI [1,3])
Item
Confocal analysis on skin biopsy
text
C0242842 (UMLS CUI [1,1])
C0150866 (UMLS CUI [1,2])
CL.2
Code List
Confocal analysis on skin biopsy
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
I.skin_cfa_date
Item
if yes: Date of analysis
date
C0011008 (UMLS CUI [1,1])
C0242842 (UMLS CUI [1,2])
C0150866 (UMLS CUI [1,3])
I.skin_cfa_results
Item
if yes: Results (ERKNET)
text
C1274040 (UMLS CUI [1,1])
C0242842 (UMLS CUI [1,2])
C0150866 (UMLS CUI [1,3])
Item Group
Genetic diagnosis
C0596612 (UMLS CUI [1,1])
I.gen_scr_date
Item
Date of screening
date
C0011008 (UMLS CUI [1,1])
C0813145 (UMLS CUI [1,2])
Item
Was a causative gene abnormality identified?
text
C5551567 (UMLS CUI [1,1])
C1517478 (UMLS CUI [1,2])
C0442726 (UMLS CUI [1,3])
CL.19
Code List
Was a causative gene abnormality identified?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C1705108 (UMLS CUI [1,1])
CL Item
Result pending (9)
C2711509 (UMLS CUI [1,1])
I.gen_dia_date
Item
Date of diagnosis
date
C2316983 (UMLS CUI [1,1])
Item
Method: individual gene testing?
text
C0430022 (UMLS CUI [1,1])
C0870696 (UMLS CUI [1,2])
CL.2
Code List
Method: individual gene testing?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Method: NGS gene panel screening?
text
C0430022 (UMLS CUI [1,1])
C4287392 (UMLS CUI [1,2])
CL.2
Code List
Method: NGS gene panel screening?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Method: exome sequencing?
text
C3640077 (UMLS CUI [1,1])
C0430022 (UMLS CUI [1,2])
CL.2
Code List
Method: exome sequencing?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
Method: CNV-array / MLPA?
text
C0430022 (UMLS CUI [1,1])
C0383154 (UMLS CUI [1,2])
CL.2
Code List
Method: CNV-array / MLPA?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
I.gen_affected_ar
Item
Affected gene (AR)
text
C0449642 (UMLS CUI [1,1])
C0017337 (UMLS CUI [1,2])
Item
Zygosity
text
C1710709 (UMLS CUI [1,1])
CL.20
Code List
Zygosity
CL Item
homozygous (1)
C0019904 (UMLS CUI [1,1])
CL Item
compound heterozygous (2)
C4264438 (UMLS CUI [1,1])
I.gen_mut_ar_homozygous
Item
Homozygous: Mutation?
text
C1521902 (UMLS CUI [1,1])
C0026882 (UMLS CUI [1,2])
C0019904 (UMLS CUI [1,3])
I.gen_mut_ar_compound_1
Item
Compound heterozygous: Mutation Allele 1?
text
C1521902 (UMLS CUI [1,1])
C0026882 (UMLS CUI [1,2])
C4264438 (UMLS CUI [1,3])
I.gen_mut_ar_compound_2
Item
Compound heterozygous: Mutation Allele 2?
text
C1521902 (UMLS CUI [1,1])
C0026882 (UMLS CUI [1,2])
C4264438 (UMLS CUI [1,3])
I.gen_affected_ad
Item
Affected gene (AD)
text
C0449642 (UMLS CUI [1,1])
C0017337 (UMLS CUI [1,2])
I.gen_mut_xl_heterozygous
Item
Affected gene (AD): Mutation?
text
C1521902 (UMLS CUI [1,1])
C0026882 (UMLS CUI [1,2])
C0449642 (UMLS CUI [1,3])
C0017337 (UMLS CUI [1,4])
I.gen_affected_mt
Item
Affected gene (MT)
text
C0449642 (UMLS CUI [1,1])
C0017337 (UMLS CUI [1,2])
I.gen_mut_mt_heterozygous
Item
Affected gene (MT): Mutation?
text
C0449642 (UMLS CUI [1,1])
C0017337 (UMLS CUI [1,2])
C1521902 (UMLS CUI [1,3])
C0026882 (UMLS CUI [1,4])
I.gen_affected_di1
Item
Affected genes 1 (Digenic)
text
C0449642 (UMLS CUI [1,1])
C0017337 (UMLS CUI [1,2])
I.gen_affected_di2
Item
Affected genes 2 (Digenic)
text
C0449642 (UMLS CUI [1,1])
C0017337 (UMLS CUI [1,2])
Item
Zygosity 1
text
C1710709 (UMLS CUI [1,1])
CL.21
Code List
Zygosity 1
CL Item
homozygous (1)
C0019904 (UMLS CUI [1,1])
CL Item
heterozygous (2)
C0019425 (UMLS CUI [1,1])
CL Item
hemizygous (3)
C1881036 (UMLS CUI [1,1])
Item
Zygosity 2
text
C1710709 (UMLS CUI [1,1])
CL.21
Code List
Zygosity 2
CL Item
homozygous (1)
C0019904 (UMLS CUI [1,1])
CL Item
heterozygous (2)
C0019425 (UMLS CUI [1,1])
CL Item
hemizygous (3)
C1881036 (UMLS CUI [1,1])
I.gen_mut_di1_digenic
Item
Mutation 1
text
C0026882 (UMLS CUI [1,1])
I.gen_mut_di2_digenic
Item
Mutation 2
text
C0026882 (UMLS CUI [1,1])
I.gen_cyto_result
Item
Please specify result of cytogenetic analysis
text
C1521902 (UMLS CUI [1,1])
C1274040 (UMLS CUI [1,2])
C0752095 (UMLS CUI [1,3])
I.gen_result
Item
Please specify genetic abnormality
text
C1521902 (UMLS CUI [1,1])
C0541978 (UMLS CUI [1,2])
I.gen_comment
Item
Further comments
text
C1830770 (UMLS CUI [1,1])
Item Group
Family history
C0241889 (UMLS CUI [1,1])
Item
Family members affected?
text
C0392760 (UMLS CUI [1,1])
C0086282 (UMLS CUI [1,2])
CL.22
Code List
Family members affected?
CL Item
Family history not recorded (9)
C4699174 (UMLS CUI [1,1])
CL Item
No family members known to be affected  (0)
C0442737 (UMLS CUI [1,1])
C0392760 (UMLS CUI [1,2])
C0086282 (UMLS CUI [1,3])
CL Item
Family members affected (1)
C0392760 (UMLS CUI [1,1])
C0086282 (UMLS CUI [1,2])
Item
Did an affected family member suffer from an intracranial aneurysm?
text
C0392760 (UMLS CUI [1,1])
C0086282 (UMLS CUI [1,2])
C0007766 (UMLS CUI [1,3])
CL.2
Code List
Did an affected family member suffer from an intracranial aneurysm?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
If yes: Was the patient screend for intracranial aneurysm?
text
C0392760 (UMLS CUI [1,1])
C0086282 (UMLS CUI [1,2])
C0007766 (UMLS CUI [1,3])
C0220908 (UMLS CUI [1,4])
CL.2
Code List
If yes: Was the patient screend for intracranial aneurysm?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item Group
eGFR
C4524116 (UMLS CUI [1,1])
I.egfr_1y
Item
eGFR 1 year prior enrolment in ml/min/1.73m² (0-600)
float
C4524116 (UMLS CUI [1,1])
C3898100 (UMLS CUI [1,2])
C1516879 (UMLS CUI [1,3])
I.egfr_2y
Item
eGFR 2 year prior enrolment in ml/min/1.73m² (0-600)
float
C4524116 (UMLS CUI [1,1])
C5963305 (UMLS CUI [1,2])
C1516879 (UMLS CUI [1,3])
I.egfr_3y
Item
eGFR 3 year prior enrolment in ml/min/1.73m² (0-600)
float
C4524116 (UMLS CUI [1,1])
C5959150 (UMLS CUI [1,2])
C1516879 (UMLS CUI [1,3])
I.egfr_4y
Item
eGFR 4 year prior enrolment in ml/min/1.73m² (0-600)
float
C4524116 (UMLS CUI [1,1])
C5959151 (UMLS CUI [1,2])
C1516879 (UMLS CUI [1,3])
Item Group
Termination
C0030705 (UMLS CUI [1,1])
C1522577 (UMLS CUI [1,2])
C2746065 (UMLS CUI [1,3])
I.cr_term_date
Item
Date of final entry
date
C0011008 (UMLS CUI [1,1])
C0030705 (UMLS CUI [1,2])
C1522577 (UMLS CUI [1,3])
C2746065 (UMLS CUI [1,4])
Item
Reason for end of follow-up
text
C1549995 (UMLS CUI [1,1])
C0030705 (UMLS CUI [1,2])
C1522577 (UMLS CUI [1,3])
C2746065 (UMLS CUI [1,4])
CL.23
Code List
Reason for end of follow-up
CL Item
loss of follow-up (1)
C5570545 (UMLS CUI [1,1])
C0745777 (UMLS CUI [1,2])
CL Item
patient death (2)
C0011065 (UMLS CUI [1,1])
CL Item
Transition to adult unit (3)
C3178922 (UMLS CUI [1,1])
CL Item
Transition to other center (4)
C3846724 (UMLS CUI [1,1])
I.lof_date
Item
if LOF: date
date
C0011008 (UMLS CUI [1,1])
C5570545 (UMLS CUI [1,2])
C0745777 (UMLS CUI [1,3])
Item
if LOF: reason
text
C0566251 (UMLS CUI [1,1])
C5570545 (UMLS CUI [1,2])
C0745777 (UMLS CUI [1,3])
CL.24
Code List
if LOF: reason
CL Item
unable to locate patient (1)
C1299582 (UMLS CUI [1,1])
C2735054 (UMLS CUI [1,2])
CL Item
patient refused further follow up (2)
C0030705 (UMLS CUI [1,1])
C1705116 (UMLS CUI [1,2])
C1522577 (UMLS CUI [1,3])
CL Item
patient transferred to non-ERKNet center (3)
C3846724 (UMLS CUI [1,1])
CL Item
other (specify) (4)
C3840932 (UMLS CUI [1,1])
CL Item
consultation only (5)
C0009818 (UMLS CUI [1,1])
I.lof_reason_specify
Item
specify LOF other reason:
text
C1521902 (UMLS CUI [1,1])
C3840932 (UMLS CUI [1,2])
C5570545 (UMLS CUI [1,3])
C0745777 (UMLS CUI [1,4])
I.death_date
Item
if DEATH: date
date
C1148348 (UMLS CUI [1,1])
I.death_reason
Item
if DEATH: reason
text
C0007465 (UMLS CUI [1,1])
Item Group
Transfer data
C0030704 (UMLS CUI [1,1])
C1511726 (UMLS CUI [1,2])
I.new_pat_id
Item
New patient id
text
C0237753 (UMLS CUI [1,1])
C0030705 (UMLS CUI [1,2])
C0600091 (UMLS CUI [1,3])
C0205314 (UMLS CUI [1,4])
I.old_pat_id
Item
Old patient id
text
C0237753 (UMLS CUI [1,1])
C0030705 (UMLS CUI [1,2])
C0600091 (UMLS CUI [1,3])
C0580836 (UMLS CUI [1,4])
I.trans_date
Item
Date of transfer
date
C0011008 (UMLS CUI [1,1])
C0030704 (UMLS CUI [1,2])
Item Group
Status (for Benchmarking / Statistics)
C0449438 (UMLS CUI [1,1])
I.stat_lv_uid
Item
latest visit: uid
text
C0237753 (UMLS CUI [1,1])
C0030705 (UMLS CUI [1,2])
C0600091 (UMLS CUI [1,3])
C5204632 (UMLS CUI [1,4])
I.stat_lv_date
Item
latest visit: date
date
C1320303 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
I.stat_lv_age
Item
latest visit: age
integer
C0001779 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
I.stat_lv_treatment
Item
latest visit: treatment
text
C0087111 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
I.stat_lv_height_sds
Item
latest visit: height_sds
float
C0489786 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
I.stat_lv_bmi
Item
latest visit: bmi
float
C1305855 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
I.stat_lv_bmi_sds
Item
latest visit: bmi_sds
float
C1305855 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
I.stat_lv_bp_sys
Item
latest visit: Blood pressure sys
integer
C0871470 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
I.stat_lv_bp_dia
Item
latest visit: Blood pressure dia
integer
C0428883 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
I.stat_lv_bp_sys_sds
Item
latest visit: Blood pressure SDS sys
integer
C0871470 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
I.stat_lv_bp_dia_sds
Item
latest visit: Blood pressure SDS dia
integer
C0428883 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
I.stat_lv_sbicarb
Item
latest visit: Bicarbonate
float
C0202059 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
I.stat_lv_lcystine
Item
latest visit: Cystine
float
C0546634 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
Item
latest visit: cystine level obtained?
text
C0546634 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
CL.2
Code List
latest visit: cystine level obtained?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
I.stat_lv_hemoglobin
Item
latest visit: Hemoglobin
float
C0518015 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
I.stat_lv_lab_phosphorus
Item
latest visit: serum inorganic phosphorus
float
C0523826 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
I.stat_lv_lab_potassium
Item
latest visit: Potassium
float
C5204632 (UMLS CUI [1,1])
C0302353 (UMLS CUI [1,2])
Item
latest visit: New stones?
text
C0022650 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
CL.2
Code List
latest visit: New stones?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
I.stat_lv_ldl_cholesterol
Item
latest visit: Serum LDL cholesterol
integer
C0428474 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
Item
latest visit: Statin therapy?
text
C2585159 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
CL.2
Code List
latest visit: Statin therapy?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
latest visit: RAS antagonist?
text
C1514727 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
CL.2
Code List
latest visit: RAS antagonist?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
latest visit: Does the patient have or is he/she considering to have a child?
text
C0030550 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
CL.2
Code List
latest visit: Does the patient have or is he/she considering to have a child?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
latest visit: if yes: Was prenatal genetic counseling offered?
text
C1444648 (UMLS CUI [1,1])
C1257802 (UMLS CUI [1,2])
CL.2
Code List
latest visit: if yes: Was prenatal genetic counseling offered?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
latest visit: a) Angiomyolipoma?
text
C0206633 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
CL.2
Code List
latest visit: a) Angiomyolipoma?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
latest visit: b) Neurological disease manifestations (SEGA/Epilepsy)?
text
C0027854 (UMLS CUI [1,1])
C0205768 (UMLS CUI [1,2])
C0014544 (UMLS CUI [1,3])
C5204632 (UMLS CUI [1,4])
CL.2
Code List
latest visit: b) Neurological disease manifestations (SEGA/Epilepsy)?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
latest vist: if a) or b)=yes : mTOR inhibitor?
text
C2746052 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
CL.2
Code List
latest vist: if a) or b)=yes : mTOR inhibitor?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
I.stat_lv_feb_urinary_tract_infect
Item
Latest visit: Number of febrile urinary tract infections (last 12 Mo.)
integer
C1265611 (UMLS CUI [1,1])
C3875265 (UMLS CUI [1,2])
C3887293 (UMLS CUI [1,3])
Item
Latest visit: Enteral feeding (Pat<3J)
text
C0086225 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
CL.25
Code List
Latest visit: Enteral feeding (Pat<3J)
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
nasogastric tube  (1)
C0812428 (UMLS CUI [1,1])
CL Item
gastrostomy tube (2)
C0017196 (UMLS CUI [1,1])
C0041281 (UMLS CUI [1,2])
Item
Latest Visit: Patient on growth hormone (1-16Y, heightSDS< -2)
text
C0744483 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
CL.2
Code List
Latest Visit: Patient on growth hormone (1-16Y, heightSDS< -2)
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
latest visit: Audio assessment within last 24 Mo.
text
C0018786 (UMLS CUI [1,1])
C5959149 (UMLS CUI [1,2])
CL.2
Code List
latest visit: Audio assessment within last 24 Mo.
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
latest visit: Proteinuria measurement within last 12 Mo.
text
C0033687 (UMLS CUI [1,1])
C0242485 (UMLS CUI [1,2])
C3887293 (UMLS CUI [1,3])
CL.2
Code List
latest visit: Proteinuria measurement within last 12 Mo.
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
latest visit: Proteinuria measurement done since last update (or treatment start)?
text
C0033687 (UMLS CUI [1,1])
C0242485 (UMLS CUI [1,2])
C3872643 (UMLS CUI [1,3])
CL.26
Code List
latest visit: Proteinuria measurement done since last update (or treatment start)?
CL Item
Not done (0)
C1272696 (UMLS CUI [1,1])
CL Item
24h proteinuria (1)
C1442770 (UMLS CUI [1,1])
C0033687 (UMLS CUI [1,2])
CL Item
Protein/Creatinine (2)
C0201975 (UMLS CUI [1,1])
CL Item
Dipstick result (3)
C0430370 (UMLS CUI [1,1])
C0456984 (UMLS CUI [1,2])
CL Item
Not applicable (9)
C1272460 (UMLS CUI [1,1])
I.stat_lv_protur_24h
Item
latest visit: 24h proteinuria (pediatric/adult)
float
C1442770 (UMLS CUI [1,1])
C0033687 (UMLS CUI [1,2])
C1274040 (UMLS CUI [1,3])
I.stat_lv_protur_protcrea
Item
latest visit: Protein/Creatinine
float
C0201975 (UMLS CUI [1,1])
C1274040 (UMLS CUI [1,2])
I.stat_lv_protur_dipstick
Item
latest visit: Dipstick result
text
C0430370 (UMLS CUI [1,1])
C0456984 (UMLS CUI [1,2])
I.stat_lv_egfr
Item
latest visit: eGFR
float
C4524116 (UMLS CUI [1,1])
C1274040 (UMLS CUI [1,2])
I.stat_lv_ckd
Item
latest visit: CKD (CKD 1-5)
text
C1561643 (UMLS CUI [1,1])
C1306673 (UMLS CUI [1,2])
C5204632 (UMLS CUI [1,3])
I.stat_lv_treat
Item
latest visit: treatment status (C, D, Tn)
text
C0749659 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
Item
latest visit: TX Biopsy done?
text
C1512699 (UMLS CUI [1,1])
C0005558 (UMLS CUI [1,2])
C0884358 (UMLS CUI [1,3])
CL.2
Code List
latest visit: TX Biopsy done?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
latest visit: TX Biopsy Result
text
C0005558 (UMLS CUI [1,1])
C1274040 (UMLS CUI [1,2])
CL.27
Code List
latest visit: TX Biopsy Result
CL Item
No rejection (0)
C0018129 (UMLS CUI [1,1])
C0332197 (UMLS CUI [1,2])
CL Item
Borderline findings (1)
C0586728 (UMLS CUI [1,1])
CL Item
T-cell mediated rejection (2)
C5983209 (UMLS CUI [1,1])
CL Item
Antibody-mediated rejection (3)
C1608421 (UMLS CUI [1,1])
Item
latest visit: MRI done?
text
C0024485 (UMLS CUI [1,1])
C5204632 (UMLS CUI [1,2])
CL.2
Code List
latest visit: MRI done?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
Item
any MRI done? (indicated in Visits)
text
C0024485 (UMLS CUI [1,1])
C0262926 (UMLS CUI [1,2])
CL.2
Code List
any MRI done? (indicated in Visits)
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
I.stat_pd_peritonitis
Item
Peritonitis episodes
text
C0332189 (UMLS CUI [1,1])
C0031154 (UMLS CUI [1,2])
I.stat_pd_trmonths
Item
PD treatment months
text
C0031139 (UMLS CUI [1,1])
C0439231 (UMLS CUI [1,2])
I.stat_hd_trmonths
Item
HD treatment months
text
C0019004 (UMLS CUI [1,1])
C0439231 (UMLS CUI [1,2])
I.stat_d_trmonths
Item
PD + HD treatment months
text
C0439231 (UMLS CUI [1,1])
C0019004 (UMLS CUI [1,2])
C0031139 (UMLS CUI [1,3])
Item
all visits: preemptive TX?
text
C1456501 (UMLS CUI [1,1])
C0022671 (UMLS CUI [1,2])
CL.2
Code List
all visits: preemptive TX?
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
CL Item
Yes (1)
C5399964 (UMLS CUI [1,1])
I.stat_fs2dia
Item
interval in Months: first symptoms – diagnosis
float
C4086878 (UMLS CUI [1,1])
C0011900 (UMLS CUI [1,2])
C0872291 (UMLS CUI [1,3])
I.stat_fv2dia
Item
interval in Months: first visit – diagnosis
float
C5207077 (UMLS CUI [1,1])
C0011900 (UMLS CUI [1,2])
C0872291 (UMLS CUI [1,3])
C0439231 (UMLS CUI [1,4])
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