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ERKNet Bartter registry: Patient information

23 forms  
Registry participation
Description

Registry participation

Alias
UMLS CUI [1,1]
C0034975
UMLS CUI [1,2]
C0679823
UMLS CUI [1,3]
C0392360
Bartter uid
Description

I.bartter_uid

Data type

integer

Alias
UMLS CUI [1,1]
C2603343
UMLS CUI [1,2]
C2348584
UMLS CUI [1,3]
C0004775
Bartter patient ID
Description

I.pat_id_b

Data type

text

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C0004775
Basic data
Description

Basic data

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

I.center_speciality

Data type

text

Alias
UMLS CUI [1,1]
C0565990
UMLS CUI [1,2]
C0037778
Mother affected?
Description

I.mother_affected

Data type

boolean

Alias
UMLS CUI [1,1]
C0392760
UMLS CUI [1,2]
C0026591
UMLS CUI [1,3]
C1512698
Father affected?
Description

I.father_affected

Data type

boolean

Alias
UMLS CUI [1,1]
C0015671
UMLS CUI [1,2]
C0392760
UMLS CUI [1,3]
C1512698
Sibling affected?
Description

I.sibling_affected

Data type

boolean

Alias
UMLS CUI [1,1]
C0037047
UMLS CUI [1,2]
C0392760
UMLS CUI [1,3]
C1512698
Height Father (in cm)
Description

I.father_height

Data type

integer

Alias
UMLS CUI [1,1]
C0489786
UMLS CUI [1,2]
C0015671
UMLS CUI [1,3]
C0475210
Height Mother (in cm)
Description

I.mother_height

Data type

integer

Alias
UMLS CUI [1,1]
C0489786
UMLS CUI [1,2]
C0026591
UMLS CUI [1,3]
C0475210
Birth weight (in grams)
Description

I.birth_weight

Data type

integer

Alias
UMLS CUI [1,1]
C0005612
UMLS CUI [1,2]
C0439208
Prenatal manifestation
Description

I.prenatal_manif

Data type

text

Alias
UMLS CUI [1,1]
C0678804
UMLS CUI [1,2]
C1704258
Prenatal intervention
Description

I.prenatal_interv

Data type

text

Alias
UMLS CUI [1,1]
C0033052
UMLS CUI [1,2]
C0184661
NSAID (i.e. indomethacin, ibuprofen)?
Description

I.prenatal_NSAID

Data type

text

Alias
UMLS CUI [1,1]
C0003211
UMLS CUI [1,2]
C1512698
UMLS CUI [1,3]
C1521801
Amniocentesis?
Description

I.prenatal_amnio

Data type

text

Alias
UMLS CUI [1,1]
C0002627
UMLS CUI [1,2]
C1512698
Number of weeks of gestation
Description

I.prematurity_n

Data type

integer

Alias
UMLS CUI [1,1]
C1135241
Acute renal failure in neonatal period
Description

I.neonatal_renal

Data type

text

Alias
UMLS CUI [1,1]
C0035078
UMLS CUI [1,2]
C0205178
UMLS CUI [1,3]
C0935562
Peak creatinine (in mg/dl)
Description

I.neonatal_ARF_crea

Data type

float

Alias
UMLS CUI [1,1]
C0444505
UMLS CUI [1,2]
C0600061
Clinical examination
Description

Clinical examination

Alias
UMLS CUI [1,1]
C1456356
Seizure?
Description

I.dia_ce_seizure

Data type

text

Alias
UMLS CUI [1,1]
C0036572
other disorders?
Description

I.dia_ce_other

Data type

text

Alias
UMLS CUI [1,1]
C0012634
UMLS CUI [1,2]
C0205394
Biochemical evaluation
Description

Biochemical evaluation

Alias
UMLS CUI [1,1]
C0205474
UMLS CUI [1,2]
C0220825
Serum Creatinine in mg/dl
Description

I.dia_be_screa

Data type

float

Alias
UMLS CUI [1,1]
C0201976
eGFR in ml/min/1.73 m2
Description

I.dia_be_egfr

Data type

float

Alias
UMLS CUI [1,1]
C3811844
Status (CKD)
Description

I.dia_be_ckd

Data type

text

Alias
UMLS CUI [1,1]
C1561643
UMLS CUI [1,2]
C0699749
Hemoglobin in g/dl
Description

I.dia_be_hemoglobin

Data type

float

Alias
UMLS CUI [1,1]
C0518015
Cystatin C in mg/l
Description

I.dia_be_cystatin_c

Data type

float

Alias
UMLS CUI [1,1]
C1619716
Albuminuria
Description

I.dia_be_albuminuria

Data type

text

Alias
UMLS CUI [1,1]
C0001925
if 24h urine (g/m2/d):
Description

I.dia_be_albuminuria_24h

Data type

float

Alias
UMLS CUI [1,1]
C1278236
UMLS CUI [1,2]
C1274040
if spot urine (mg/g Creatinine):
Description

I.dia_be_albuminuria_spot

Data type

float

Alias
UMLS CUI [1,1]
C1272574
UMLS CUI [1,2]
C1274040
UMLS CUI [1,3]
C0001925
Proteinuria
Description

I.dia_be_protur

Data type

text

Alias
UMLS CUI [1,1]
C0033687
Date of measurement
Description

I.protur_date

Data type

date

Alias
UMLS CUI [1,1]
C0011008
UMLS CUI [1,2]
C0242485
UMLS CUI [1,3]
C0033687
24h proteinuria (pediatric/adult) in g/24h
Description

I.protur_24h

Data type

float

Alias
UMLS CUI [1,1]
C1442770
UMLS CUI [1,2]
C0033687
Protein/Creatinine in g/g
Description

I.protur_protcrea

Data type

float

Alias
UMLS CUI [1,1]
C0033687
UMLS CUI [1,2]
C0486293
Dipstick result
Description

I.protur_dipstick

Data type

text

Alias
UMLS CUI [1,1]
C0430370
UMLS CUI [1,2]
C0456984
Clinical presentation at time of diagnosis
Description

Clinical presentation at time of diagnosis

Alias
UMLS CUI [1,1]
C2708283
UMLS CUI [1,2]
C2348792
UMLS CUI [1,3]
C0011900
Fortuitious discovery of electrolyte abnormalities
Description

I.dia_ce_fortuitous

Data type

text

Alias
UMLS CUI [1,1]
C0151613
Failure to thrive
Description

I.dia_ce_fft

Data type

text

Alias
UMLS CUI [1,1]
C0015544
Growth retardation
Description

I.dia_ce_growth

Data type

text

Alias
UMLS CUI [1,1]
C0151686
Salt craving
Description

I.dia_ce_salt

Data type

text

Alias
UMLS CUI [1,1]
C0240928
Polydipsia (Thirst) / Polyuria
Description

I.dia_ce_thirst

Data type

text

Alias
UMLS CUI [1,1]
C0032617
UMLS CUI [1,2]
C0085602
Muscle weakness
Description

I.dia_ce_weakness

Data type

text

Alias
UMLS CUI [1,1]
C0151786
Fatigue
Description

I.dia_ce_fatigue

Data type

text

Alias
UMLS CUI [1,1]
C0015672
Muscle cramps / Tetany
Description

I.dia_ce_cramps

Data type

text

Alias
UMLS CUI [1,1]
C0026821
Paresthesia
Description

I.dia_ce_pares

Data type

text

Alias
UMLS CUI [1,1]
C0030554
Carpopedal spasms
Description

I.dia_ce_spasms

Data type

text

Alias
UMLS CUI [1,1]
C0231785
Joint pain/Chondrocalcinosis
Description

I.dia_ce_chond

Data type

text

Alias
UMLS CUI [1,1]
C0003862
UMLS CUI [1,2]
C0221621
Cardiac arrythymia
Description

I.dia_ce_arrth

Data type

text

Alias
UMLS CUI [1,1]
C0003811
Ataxia
Description

I.dia_ce_ataxia

Data type

text

Alias
UMLS CUI [1,1]
C0004134
Hearing impairment/Sensorineural deafness
Description

I.dia_ce_deaf

Data type

text

Alias
UMLS CUI [1,1]
C1384666
UMLS CUI [1,2]
C0018784
Biochemical features at time of diagnosis
Description

Biochemical features at time of diagnosis

Alias
UMLS CUI [1,1]
C0205474
UMLS CUI [1,2]
C0220825
UMLS CUI [1,3]
C2348792
UMLS CUI [1,4]
C0011900
Serum bicarbonate in mmol/l (5-60)
Description

I.dia_be_sbicarb

Data type

float

Alias
UMLS CUI [1,1]
C0428301
Serum inorganic phosphorus in mmol/L (0.3 – 6.0)
Description

I.dia_be_phosphorus

Data type

float

Alias
UMLS CUI [1,1]
C1266228
Potassium in mmol/L (1.5 – 7.5)
Description

I.dia_be_potassium

Data type

float

Alias
UMLS CUI [1,1]
C0202194
Sodium in mmol/L (110 – 180)
Description

I.dia_be_sodium

Data type

float

Alias
UMLS CUI [1,1]
C0337443
Chloride in mmol/L (70 – 130)
Description

I.dia_be_chloride

Data type

float

Alias
UMLS CUI [1,1]
C0201952
Calcium in mmol/L (1.0 – 4.5)
Description

I.dia_be_calcium

Data type

float

Alias
UMLS CUI [1,1]
C0036785
Parathormone in pmol/L (0,1 – 1000)
Description

I.dia_be_parathormone

Data type

float

Alias
UMLS CUI [1,1]
C0202159
Magnesium (1.5 - 7.5 mmol/L)
Description

I.dia_be_magnesium

Data type

float

Alias
UMLS CUI [1,1]
C0373675
Alkaline phsophatase (200 - 2000 U/L)
Description

I.dia_be_alkaline_phosphatase

Data type

float

Alias
UMLS CUI [1,1]
C0201850
Plasma osmolality (250 - 320 mosmol/L)
Description

I.dia_be_osmolatily

Data type

float

Alias
UMLS CUI [1,1]
C0860721
Renin, direct (1 - 90000 ng/L)
Description

I.dia_be_renin

Data type

float

Alias
UMLS CUI [1,1]
C0373719
Plasma renin activity (PRA) (1 - 15000 ng/L)
Description

I.dia_be_pra

Data type

float

Alias
UMLS CUI [1,1]
C2041375
UMLS CUI [1,2]
C1139560
Aldosteron (0.1 - 500 ng/dL)
Description

I.dia_be_aldosteron

Data type

float

Alias
UMLS CUI [1,1]
C0373535
Creatinine in mmol/l
Description

I.dia_be_ur_creatinine

Data type

float

Alias
UMLS CUI [1,1]
C0201975
Calcium in mg/dl
Description

I.dia_be_ur_calcium

Data type

float

Alias
UMLS CUI [1,1]
C0201925
Osmolality (50 - 1500 mosmol/L)
Description

I.dia_be_ur_osmolatily

Data type

float

Alias
UMLS CUI [1,1]
C0201803
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ERKNet Bartter 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])
C0392360 (UMLS CUI [1,3])
I.bartter_uid
Item
Bartter uid
integer
C2603343 (UMLS CUI [1,1])
C2348584 (UMLS CUI [1,2])
C0004775 (UMLS CUI [1,3])
I.pat_id_b
Item
Bartter patient ID
text
C2348585 (UMLS CUI [1,1])
C0004775 (UMLS CUI [1,2])
Item Group
Basic data
C1955348 (UMLS CUI [1,1])
Item
Center speciality
text
C0565990 (UMLS CUI [1,1])
C0037778 (UMLS CUI [1,2])
CL.32
Code List
Center speciality
CL Item
Nephrologist (1)
C1555768 (UMLS CUI [1,1])
CL Item
Urologist (2)
C0260314 (UMLS CUI [1,1])
CL Item
Other (9)
C0205394 (UMLS CUI [1,1])
C0037778 (UMLS CUI [1,2])
I.mother_affected
Item
Mother affected?
boolean
C0392760 (UMLS CUI [1,1])
C0026591 (UMLS CUI [1,2])
C1512698 (UMLS CUI [1,3])
I.father_affected
Item
Father affected?
boolean
C0015671 (UMLS CUI [1,1])
C0392760 (UMLS CUI [1,2])
C1512698 (UMLS CUI [1,3])
I.sibling_affected
Item
Sibling affected?
boolean
C0037047 (UMLS CUI [1,1])
C0392760 (UMLS CUI [1,2])
C1512698 (UMLS CUI [1,3])
I.father_height
Item
Height Father (in cm)
integer
C0489786 (UMLS CUI [1,1])
C0015671 (UMLS CUI [1,2])
C0475210 (UMLS CUI [1,3])
I.mother_height
Item
Height Mother (in cm)
integer
C0489786 (UMLS CUI [1,1])
C0026591 (UMLS CUI [1,2])
C0475210 (UMLS CUI [1,3])
I.birth_weight
Item
Birth weight (in grams)
integer
C0005612 (UMLS CUI [1,1])
C0439208 (UMLS CUI [1,2])
Item
Prenatal manifestation
text
C0678804 (UMLS CUI [1,1])
C1704258 (UMLS CUI [1,2])
CL.33
Code List
Prenatal manifestation
CL Item
No (0)
C1298908 (UMLS CUI [1,1])
C1704258 (UMLS CUI [1,2])
CL Item
Yes - Polyhydramnios (1)
C0020224 (UMLS CUI [1,1])
CL Item
Yes - Other (2)
C0205394 (UMLS CUI [1,1])
C0678804 (UMLS CUI [1,2])
C1704258 (UMLS CUI [1,3])
CL Item
Unknown (9)
C0439673 (UMLS CUI [1,1])
Item
Prenatal intervention
text
C0033052 (UMLS CUI [1,1])
C0184661 (UMLS CUI [1,2])
CL.34
Code List
Prenatal intervention
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
NSAID (i.e. indomethacin, ibuprofen)?
text
C0003211 (UMLS CUI [1,1])
C1512698 (UMLS CUI [1,2])
C1521801 (UMLS CUI [1,3])
CL.34
Code List
NSAID (i.e. indomethacin, ibuprofen)?
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
Amniocentesis?
text
C0002627 (UMLS CUI [1,1])
C1512698 (UMLS CUI [1,2])
CL.34
Code List
Amniocentesis?
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])
I.prematurity_n
Item
Number of weeks of gestation
integer
C1135241 (UMLS CUI [1,1])
Item
Acute renal failure in neonatal period
text
C0035078 (UMLS CUI [1,1])
C0205178 (UMLS CUI [1,2])
C0935562 (UMLS CUI [1,3])
CL.34
Code List
Acute renal failure in neonatal period
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])
I.neonatal_ARF_crea
Item
Peak creatinine (in mg/dl)
float
C0444505 (UMLS CUI [1,1])
C0600061 (UMLS CUI [1,2])
Item Group
Clinical examination
C1456356 (UMLS CUI [1,1])
Item
Seizure?
text
C0036572 (UMLS CUI [1,1])
CL.34
Code List
Seizure?
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
other disorders?
text
C0012634 (UMLS CUI [1,1])
C0205394 (UMLS CUI [1,2])
CL.34
Code List
other disorders?
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 Group
Biochemical evaluation
C0205474 (UMLS CUI [1,1])
C0220825 (UMLS CUI [1,2])
I.dia_be_screa
Item
Serum Creatinine in mg/dl
float
C0201976 (UMLS CUI [1,1])
I.dia_be_egfr
Item
eGFR in ml/min/1.73 m2
float
C3811844 (UMLS CUI [1,1])
I.dia_be_ckd
Item
Status (CKD)
text
C1561643 (UMLS CUI [1,1])
C0699749 (UMLS CUI [1,2])
I.dia_be_hemoglobin
Item
Hemoglobin in g/dl
float
C0518015 (UMLS CUI [1,1])
I.dia_be_cystatin_c
Item
Cystatin C in mg/l
float
C1619716 (UMLS CUI [1,1])
Item
Albuminuria
text
C0001925 (UMLS CUI [1,1])
CL.35
Code List
Albuminuria
CL Item
Not done (0)
C1272696 (UMLS CUI [1,1])
CL Item
24h (1)
C1278236 (UMLS CUI [1,1])
CL Item
Spot (2)
C0201838 (UMLS CUI [1,1])
C1272574 (UMLS CUI [1,2])
I.dia_be_albuminuria_24h
Item
if 24h urine (g/m2/d):
float
C1278236 (UMLS CUI [1,1])
C1274040 (UMLS CUI [1,2])
I.dia_be_albuminuria_spot
Item
if spot urine (mg/g Creatinine):
float
C1272574 (UMLS CUI [1,1])
C1274040 (UMLS CUI [1,2])
C0001925 (UMLS CUI [1,3])
Item
Proteinuria
text
C0033687 (UMLS CUI [1,1])
CL.26
Code List
Proteinuria
CL Item
Not done (0)
C1272696 (UMLS CUI [1,1])
C0033687 (UMLS CUI [1,2])
CL Item
24h proteinuria (1)
C1442770 (UMLS CUI [1,1])
C0033687 (UMLS CUI [1,2])
CL Item
Protein/Creatinine (2)
C0033687 (UMLS CUI [1,1])
C0486293 (UMLS CUI [1,2])
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.protur_date
Item
Date of measurement
date
C0011008 (UMLS CUI [1,1])
C0242485 (UMLS CUI [1,2])
C0033687 (UMLS CUI [1,3])
I.protur_24h
Item
24h proteinuria (pediatric/adult) in g/24h
float
C1442770 (UMLS CUI [1,1])
C0033687 (UMLS CUI [1,2])
I.protur_protcrea
Item
Protein/Creatinine in g/g
float
C0033687 (UMLS CUI [1,1])
C0486293 (UMLS CUI [1,2])
Item
Dipstick result
text
C0430370 (UMLS CUI [1,1])
C0456984 (UMLS CUI [1,2])
CL.33
Code List
Dipstick result
CL Item
0 (0)
C0430370 (UMLS CUI [1,1])
C0456984 (UMLS CUI [1,2])
C1513916 (UMLS CUI [1,3])
CL Item
(+) (1)
C0430370 (UMLS CUI [1,1])
C0456984 (UMLS CUI [1,2])
C0442722 (UMLS CUI [1,3])
CL Item
+ (2)
C0430370 (UMLS CUI [1,1])
C0456984 (UMLS CUI [1,2])
C0442722 (UMLS CUI [1,3])
CL Item
++ (3)
C0430370 (UMLS CUI [1,1])
C0456984 (UMLS CUI [1,2])
C0442723 (UMLS CUI [1,3])
CL Item
+++ (4)
C0430370 (UMLS CUI [1,1])
C0456984 (UMLS CUI [1,2])
C0442724 (UMLS CUI [1,3])
Item Group
Clinical presentation at time of diagnosis
C2708283 (UMLS CUI [1,1])
C2348792 (UMLS CUI [1,2])
C0011900 (UMLS CUI [1,3])
Item
Fortuitious discovery of electrolyte abnormalities
text
C0151613 (UMLS CUI [1,1])
CL.34
Code List
Fortuitious discovery of electrolyte abnormalities
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
Failure to thrive
text
C0015544 (UMLS CUI [1,1])
CL.34
Code List
Failure to thrive
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
Growth retardation
text
C0151686 (UMLS CUI [1,1])
CL.34
Code List
Growth retardation
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
Salt craving
text
C0240928 (UMLS CUI [1,1])
CL.34
Code List
Salt craving
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
Polydipsia (Thirst) / Polyuria
text
C0032617 (UMLS CUI [1,1])
C0085602 (UMLS CUI [1,2])
CL.34
Code List
Polydipsia (Thirst) / Polyuria
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
Muscle weakness
text
C0151786 (UMLS CUI [1,1])
CL.34
Code List
Muscle weakness
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
Fatigue
text
C0015672 (UMLS CUI [1,1])
CL.34
Code List
Fatigue
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
Muscle cramps / Tetany
text
C0026821 (UMLS CUI [1,1])
CL.34
Code List
Muscle cramps / Tetany
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
Paresthesia
text
C0030554 (UMLS CUI [1,1])
CL.34
Code List
Paresthesia
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
Carpopedal spasms
text
C0231785 (UMLS CUI [1,1])
CL.34
Code List
Carpopedal spasms
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
Joint pain/Chondrocalcinosis
text
C0003862 (UMLS CUI [1,1])
C0221621 (UMLS CUI [1,2])
CL.34
Code List
Joint pain/Chondrocalcinosis
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
Cardiac arrythymia
text
C0003811 (UMLS CUI [1,1])
CL.34
Code List
Cardiac arrythymia
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
Ataxia
text
C0004134 (UMLS CUI [1,1])
CL.34
Code List
Ataxia
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
Hearing impairment/Sensorineural deafness
text
C1384666 (UMLS CUI [1,1])
C0018784 (UMLS CUI [1,2])
CL.34
Code List
Hearing impairment/Sensorineural deafness
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 Group
Biochemical features at time of diagnosis
C0205474 (UMLS CUI [1,1])
C0220825 (UMLS CUI [1,2])
C2348792 (UMLS CUI [1,3])
C0011900 (UMLS CUI [1,4])
I.dia_be_sbicarb
Item
Serum bicarbonate in mmol/l (5-60)
float
C0428301 (UMLS CUI [1,1])
I.dia_be_phosphorus
Item
Serum inorganic phosphorus in mmol/L (0.3 – 6.0)
float
C1266228 (UMLS CUI [1,1])
I.dia_be_potassium
Item
Potassium in mmol/L (1.5 – 7.5)
float
C0202194 (UMLS CUI [1,1])
I.dia_be_sodium
Item
Sodium in mmol/L (110 – 180)
float
C0337443 (UMLS CUI [1,1])
I.dia_be_chloride
Item
Chloride in mmol/L (70 – 130)
float
C0201952 (UMLS CUI [1,1])
I.dia_be_calcium
Item
Calcium in mmol/L (1.0 – 4.5)
float
C0036785 (UMLS CUI [1,1])
I.dia_be_parathormone
Item
Parathormone in pmol/L (0,1 – 1000)
float
C0202159 (UMLS CUI [1,1])
I.dia_be_magnesium
Item
Magnesium (1.5 - 7.5 mmol/L)
float
C0373675 (UMLS CUI [1,1])
I.dia_be_alkaline_phosphatase
Item
Alkaline phsophatase (200 - 2000 U/L)
float
C0201850 (UMLS CUI [1,1])
I.dia_be_osmolatily
Item
Plasma osmolality (250 - 320 mosmol/L)
float
C0860721 (UMLS CUI [1,1])
I.dia_be_renin
Item
Renin, direct (1 - 90000 ng/L)
float
C0373719 (UMLS CUI [1,1])
I.dia_be_pra
Item
Plasma renin activity (PRA) (1 - 15000 ng/L)
float
C2041375 (UMLS CUI [1,1])
C1139560 (UMLS CUI [1,2])
I.dia_be_aldosteron
Item
Aldosteron (0.1 - 500 ng/dL)
float
C0373535 (UMLS CUI [1,1])
I.dia_be_ur_creatinine
Item
Creatinine in mmol/l
float
C0201975 (UMLS CUI [1,1])
I.dia_be_ur_calcium
Item
Calcium in mg/dl
float
C0201925 (UMLS CUI [1,1])
I.dia_be_ur_osmolatily
Item
Osmolality (50 - 1500 mosmol/L)
float
C0201803 (UMLS CUI [1,1])
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