German

ERKNet Core Registry: Patient information

23 forms  
Registry participation
Description

Registry participation

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

I.pat_id

Data type

text

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

I.erknet_id

Data type

integer

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

I.center_id

Data type

text

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

I.erknet_part

Data type

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
Description

I.drta_participation

Data type

text

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

I.alport_participation

Data type

text

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

I.sle_participation

Data type

text

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

I.cystinuria_participation

Data type

text

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

I.bartter_participation

Data type

text

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

I.escapekd_participation

Data type

text

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

I.compcure_participation

Data type

text

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

Basic data

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

I.ark_unit

Data type

text

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

I.ark_date

Data type

date

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

I.ark_share

Data type

text

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

I.ark_contact

Data type

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
Description

I.ark_pseudo

Data type

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
Description

Basic data

Alias
UMLS CUI [1,1]
C1955348
Sex
Description

I.sex

Data type

text

Alias
UMLS CUI [1,1]
C1522384
Birthdate
Description

I.birthdate

Data type

date

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

I.current_age

Data type

float

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

I.Ethnicity

Data type

text

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

I.ethnicity_other

Data type

text

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

I.first_symptoms_date

Data type

date

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

I.first_visit_date

Data type

date

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

I.dia_est

Data type

text

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

I.symptoms_group

Data type

integer

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

I.diagnosis

Data type

float

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

I.dis_group

Data type

integer

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

I.diagnosis_path

Data type

text

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

I.syndromic_disorder

Data type

float

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

I.syndromic_disorder_spec

Data type

text

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

I.has_dia2nd

Data type

text

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

I.diagnosis2nd

Data type

float

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

I.dia_date

Data type

date

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

I.dia_clinical_history

Data type

text

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

I.dia_family_history

Data type

text

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

I.dia_clinical_exam

Data type

text

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

I.dia_biochemical

Data type

text

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

I.dia_immunological

Data type

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?
Description

I.dia_immun_cfh

Data type

text

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

I.dia_hematological

Data type

text

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

I.dia_imaging

Data type

text

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

I.dia_biopsy

Data type

text

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

I.dia_immunohisto

Data type

text

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

I.Skin biopsy

Data type

text

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

I.dia_genetic

Data type

text

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

I.dia_other

Data type

text

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

I.dia_oth_adamts13

Data type

text

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

I.dia_oth_stec

Data type

text

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

I.dia_oth_stxpcr

Data type

text

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

I.dia_other_specify

Data type

text

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

Immunological evaluation (Immunomarkers)

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

I.dia_im_serum_c3

Data type

text

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

I.dia_im_serum_c4

Data type

text

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

I.dia_im_serum_iga

Data type

text

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

I.dia_im_dsdna

Data type

text

Alias
UMLS CUI [1,1]
C2747926
ANA
Description

I.dia_im_ana

Data type

text

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

I.dia_im_ab2_igg

Data type

text

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

I.dia_im_ab2_igm

Data type

text

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

I.dia_im_lupusanti

Data type

text

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

I.dia_im_anti_ro

Data type

text

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

I.dia_im_anti_rnp

Data type

text

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

I.dia_im_ap_ac

Data type

text

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

I.dia_im_anti_ccp

Data type

text

Alias
UMLS CUI [1,1]
C1610653
RF
Description

I.dia_im_rf

Data type

text

Alias
UMLS CUI [1,1]
C0035448
ACA
Description

I.dia_im_aca

Data type

text

Alias
UMLS CUI [1,1]
C0162596
cANCA
Description

I.dia_im_canca

Data type

text

Alias
UMLS CUI [1,1]
C0201531
pANCA
Description

I.dia_im_panca

Data type

text

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

I.dia_im_mp_anca

Data type

text

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

I.dia_im_ap3_anca

Data type

text

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

I.dia_im_pla2

Data type

text

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

I.dia_im_c3_nf

Data type

text

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

I.dia_im_cfh

Data type

text

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

I.dia_im_anti_scl70

Data type

text

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

I.dia_im_anti_pmscl

Data type

text

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

I.dia_im_anti_rna_poly

Data type

text

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

I.dia_im_anti_sm

Data type

text

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

I.dia_im_anti_mi2

Data type

text

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

I.dia_im_anti_gbm

Data type

text

Alias
UMLS CUI [1,1]
C1328365
Cryoglobulin
Description

I.dia_im_cryoglobulin

Data type

text

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

I.dia_im_anti_jo1

Data type

text

Alias
UMLS CUI [1,1]
C5848854
Homocysteine
Description

I.dia_im_homocysteine

Data type

text

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

Other methodologies

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

I.dia_om_adamts13

Data type

text

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

I.dia_om_shigatoxin

Data type

text

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

I.dia_om_stec_stool

Data type

text

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

I.dia_om_stec_serum

Data type

text

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

I.dia_om_specify

Data type

text

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

Imaging

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

I.dia_img_fet_us

Data type

text

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

I.dia_img_fet_mri

Data type

text

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

I.dia_img_us

Data type

text

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

I.dia_img_mri

Data type

text

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

I.dia_img_mcug

Data type

text

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

I.dia_img_nis

Data type

text

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

I.dia_img_ctscan

Data type

text

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

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
Description

I.dia_img_exam_date

Data type

date

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

I.dia_img_body_length

Data type

float

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

I.dia_img_p2p_right

Data type

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)
Description

I.dia_img_p2p_left

Data type

float

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

I.dia_img_transv_diam_1_right

Data type

float

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

I.dia_img_transv_diam_1_left

Data type

float

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

I.dia_img_transv_diam_2_right

Data type

float

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

I.dia_img_transv_diam_2_left

Data type

float

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

I.dia_img_volume_right

Data type

float

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

I.dia_img_volume_left

Data type

float

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

I.dia_img_echogen

Data type

text

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

I.dia_img_cort_med

Data type

text

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

I.dia_img_cort_thick

Data type

text

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

I.dia_img_cort_thick_right

Data type

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
Description

I.dia_img_cort_thick_left

Data type

float

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

I.dia_img_cysts

Data type

text

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

I.dia_img_cyst_loc

Data type

text

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

I.dia_img_cyst_loc_other

Data type

text

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

I.dia_img_cyst_n_right

Data type

integer

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

I.dia_img_cyst_n_left

Data type

integer

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

Histopathological diagnosis

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

I.his_biopsy_date

Data type

date

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

I.his_diagnosis

Data type

text

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

I.his_subdiagnosis

Data type

text

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

Immunhistological analysis

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

I.iha_alpha1_done

Data type

text

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

I.iha_alpha1_result

Data type

text

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

I.iha_alpha3_done

Data type

text

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

I.iha_alpha3_result

Data type

text

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

I.iha_alpha4_done

Data type

text

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

I.iha_alpha4_result

Data type

text

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

I.iha_alpha5_done

Data type

text

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

I.iha_alpha5_result

Data type

text

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

I.iha_alpha6_done

Data type

text

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

I.iha_alpha6_result

Data type

text

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

Skin biopsy

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

I.skin_iha

Data type

text

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

I.skin_iha_date

Data type

date

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

I.skin_iha_results

Data type

text

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

I.skin_cfa

Data type

text

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

I.skin_cfa_date

Data type

date

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

I.skin_cfa_results

Data type

text

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

Genetic diagnosis

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

I.gen_scr_date

Data type

date

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

I.gen_diagnosis

Data type

text

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

I.gen_dia_date

Data type

date

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

I.gen_scr_igt

Data type

text

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

I.gen_scr_ngs

Data type

text

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

I.gen_scr_exseq

Data type

text

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

I.gen_scr_cnv

Data type

text

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

I.gen_affected_ar

Data type

text

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

I.gen_affected_ar_zygosity

Data type

text

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

I.gen_mut_ar_homozygous

Data type

text

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

I.gen_mut_ar_compound_1

Data type

text

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

I.gen_mut_ar_compound_2

Data type

text

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

I.gen_affected_ad

Data type

text

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

I.gen_mut_xl_heterozygous

Data type

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)
Description

I.gen_affected_mt

Data type

text

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

I.gen_mut_mt_heterozygous

Data type

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)
Description

I.gen_affected_di1

Data type

text

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

I.gen_affected_di2

Data type

text

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

I.gen_affected_di1_zygosity

Data type

text

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

I.gen_affected_di2_zygosity

Data type

text

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

I.gen_mut_di1_digenic

Data type

text

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

I.gen_mut_di2_digenic

Data type

text

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

I.gen_cyto_result

Data type

text

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

I.gen_result

Data type

text

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

I.gen_comment

Data type

text

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

Family history

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

I.fam_affected

Data type

text

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

I.fam_aneurysm

Data type

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?
Description

I.fam_aneurysm_screen

Data type

text

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

eGFR

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

I.egfr_1y

Data type

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)
Description

I.egfr_2y

Data type

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)
Description

I.egfr_3y

Data type

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)
Description

I.egfr_4y

Data type

float

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

Termination

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

I.cr_term_date

Data type

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
Description

I.term_reason

Data type

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
Description

I.lof_date

Data type

date

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

I.lof_reason

Data type

text

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

I.lof_reason_specify

Data type

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
Description

I.death_date

Data type

date

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

I.death_reason

Data type

text

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

Transfer data

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

I.new_pat_id

Data type

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
Description

I.old_pat_id

Data type

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
Description

I.trans_date

Data type

date

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

Status (for Benchmarking / Statistics)

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

I.stat_lv_uid

Data type

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
Description

I.stat_lv_date

Data type

date

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

I.stat_lv_age

Data type

integer

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

I.stat_lv_treatment

Data type

text

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

I.stat_lv_height_sds

Data type

float

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

I.stat_lv_bmi

Data type

float

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

I.stat_lv_bmi_sds

Data type

float

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

I.stat_lv_bp_sys

Data type

integer

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

I.stat_lv_bp_dia

Data type

integer

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

I.stat_lv_bp_sys_sds

Data type

integer

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

I.stat_lv_bp_dia_sds

Data type

integer

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

I.stat_lv_sbicarb

Data type

float

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

I.stat_lv_lcystine

Data type

float

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

I.stat_lv_cystine_done

Data type

text

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

I.stat_lv_hemoglobin

Data type

float

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

I.stat_lv_lab_phosphorus

Data type

float

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

I.stat_lv_lab_potassium

Data type

float

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

I.stat_lv_new_stones

Data type

text

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

I.stat_lv_ldl_cholesterol

Data type

integer

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

I.stat_lv_statin_therapy

Data type

text

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

I.stat_lv_ras_antagonist

Data type

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?
Description

I.stat_lv_pat_child

Data type

text

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

I.stat_lv_pat_child_genetic_counseling

Data type

text

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

I.stat_lv_angiomyolipoma

Data type

text

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

I.stat_lv_neurological_disease

Data type

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?
Description

I.stat_lv_mtor_inhibitor

Data type

text

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

I.stat_lv_feb_urinary_tract_infect

Data type

integer

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

I.stat_lv_enternal_feed

Data type

text

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

I.stat_lv_growth_hormone

Data type

text

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

I.stat_lv_audio_assess

Data type

text

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

I.stat_lv_protur

Data type

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)?
Description

I.stat_lv_protur_done

Data type

text

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

I.stat_lv_protur_24h

Data type

float

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

I.stat_lv_protur_protcrea

Data type

float

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

I.stat_lv_protur_dipstick

Data type

text

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

I.stat_lv_egfr

Data type

float

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

I.stat_lv_ckd

Data type

text

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

I.stat_lv_treat

Data type

text

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

I.stat_lv_tx_biopsy

Data type

text

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

I.stat_lv_tx_biopsy_result

Data type

text

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

I.stat_lv_mri_done

Data type

text

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

I.stat_any_mri

Data type

text

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

I.stat_pd_peritonitis

Data type

text

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

I.stat_pd_trmonths

Data type

text

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

I.stat_hd_trmonths

Data type

text

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

I.stat_d_trmonths

Data type

text

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

I.stat_tx_preemptive

Data type

text

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

I.stat_fs2dia

Data type

float

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

I.stat_fv2dia

Data type

float

Alias
UMLS CUI [1,1]
C5207077
UMLS CUI [1,2]
C0011900
UMLS CUI [1,3]
C0872291
UMLS CUI [1,4]
C0439231
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Similar models

ERKNet Core Registry: Patient information

23 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
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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