Disorders of phosphorus metabolism and phosphatases

E4_PHOS_MET

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 E83.3
  • Hospital discharge: ICD-9 2753
  • Cause of death: ICD-10 E83.3
  • Cause of death: ICD-9 2753
  • KELA reimbursements: KELA codes ANY
  • KELA reimbursements: ICD-10 E83.3

3 out of 7 registries used, show all original rules.

166

4. Check minimum number of events

None

166

5. Include endpoints

None

166

6. Filter based on genotype QC (FinnGen only)

166

Control definitions (FinnGen only)

Control exclude
E4_METABOLIA

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
E83
Name in latin
Perturbationes metabolismi phosphori

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 908 443 459
Only index persons 819 399 420
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.02 0.01 0.02
Median age at first event (years)
Whole population 54.06 52.80 55.17
Only index persons 54.59 53.52 55.61

-FinnGen-

Key figures

All Female Male
Number of individuals 166 90 76
Unadjusted period prevalence (%) 0.03 0.03 0.03
Median age at first event (years) 51.12 48.39 54.35

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

No data

CodeWAS (R11)

CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.

Matched cohort

Matched cases
149
Matched controls
1489
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E83.39
ICD-10 Finland
Other disorder of phosphorus metabolism
+∞
152.5
119
*
123
Kela drug reimbursment
Chronic disorders of vitamin D metabolism
80.1
44.8
49
9
V03AG01
ATC
sodium cellulose phosphate; systemic
552.8
43.5
41
*
A11CC03
ATC
alfacalcidol; systemic
52.4
35.7
42
11
E87.6
ICD-10 Finland
Hypokalaemia
170.9
27.7
28
*
E83.30
ICD-10 Finland
Acid phosphatase deficiency
+∞
25.8
24
*
E83.3
ICD-10 Finland
Disorders of phosphorus metabolism and phosphatases
+∞
24.7
23
*
E83.51
ICD-10 Finland
Hypocalcemia
+∞
20.3
19
*
NK6QA
NOMESCO Finland
Measurement of bone density from tow or more locations with X-ray
14.3
19.8
34
30
A12AA04
ATC
calcium carbonate; oral
44.9
19.2
23
6
E83.4
ICD-10 Finland
Disorders of magnesium metabolism
+∞
18.1
17
*
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
4.7
16.9
76
270
E83.50
ICD-10 Finland
Hypercalcemia
+∞
13.8
13
*
E87.1
ICD-10 Finland
Hypo-osmolality and hyponatraemia
76.6
12.8
14
*
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
3.9
12.1
64
243
A49.9
ICD-10 Finland
Bacterial infection, unspecified
7.2
11.8
29
48
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
11.0
11.7
22
23
NA3AA
NOMESCO Finland
Lumbar spine X-ray examination without contrast
6.4
11.2
30
56
R4110
NOMESCO Finland
Physiotherapy
3.7
10.7
58
221
B05XA09
ATC
sodium phosphate; parenteral
+∞
10.5
10
*
D64.9
ICD-10 Finland
Anaemia, unspecified
6.6
9.7
25
44
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
4.4
9.5
36
100
2753A
ICD-9 Finland
Disorders of mineral metabolism, Disorders of phosphorus metabolism[HYPOPHOSPHATHAEMIA FAMILIARIS]
+∞
9.5
9
*
X59
ICD-10 Finland
Exposure to unspecified factor
3.9
9.5
43
141
K04.5
ICD-10 Finland
Chronic apical periodontitis
3.3
9.0
52
206
137
Kela drug reimbursment
Uraemia requiring dialysis
+∞
8.4
8
*
B05DA
ATC
Isotonic solutions
+∞
8.4
8
*
R53
ICD-10 Finland
Malaise and fatigue
3.5
8.3
42
149
N18.9
ICD-10 Finland
Chronic kidney disease, unspecified
11.0
8.2
15
15
601
Kela drug reimbursment
Severe malabsorption of nutrients, mainly fats
35.5
8.2
10
*
TPH90
NOMESCO Finland
Removal of fixed intravenous catheter
35.5
8.2
10
*
SBB20
NOMESCO Finland
Tooth X-ray examination in conjunction with visit to dentist
23.6
8.1
11
5
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.8
8.1
73
380
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
4.4
8.1
30
81
Z3226
NOMESCO Finland
Physiotherapist
3.4
7.8
42
155
JN3AD
NOMESCO Finland
Abdominal CT examination
5.9
7.7
21
40
SBB00
NOMESCO Finland
Fotograf of mouth and teeth
6.6
7.7
19
32
Z2221
NOMESCO Finland
Medical doctor
3.0
7.7
53
232
TPH07
NOMESCO Finland
Cathetrisation of artery
5.2
7.6
23
50
H02AB09
ATC
hydrocortisone; systemic
10.2
7.5
14
15
E83.8
ICD-10 Finland
Other disorders of mineral metabolism
+∞
7.3
7
*
E83.9
ICD-10 Finland
Disorder of mineral metabolism, unspecified
+∞
7.3
7
*
A12AA06
ATC
calcium lactate gluconate; oral
+∞
7.3
7
*
E86
ICD-10 Finland
Volume depletion
+∞
7.3
7
*
ZXE00
NOMESCO Finland
One hour or less
2.6
7.3
72
389
ZX120
NOMESCO Finland
Intravenous
4.7
7.2
24
58
NA2AA
NOMESCO Finland
Thoracal spine X-ray examination without contrast
12.9
7.2
12
10
KA1AE
NOMESCO Finland
Kidney ultrasound examination
10.8
7.2
13
13
J18.9
ICD-10 Finland
Pneumonia, unspecified
3.1
7.1
42
165
A41.5
ICD-10 Finland
Sepsis due to other Gram-negative organisms
14.7
7.0
11
8
WZC10
NOMESCO Finland
Extensive specialist consultion with written report
7.8
6.9
15
21
L04AX01
ATC
azathioprine; systemic
6.5
6.8
17
29
F10.25
ICD-10 Finland
Alcohol dependence continuous use
17.7
6.8
10
6
127
Kela drug reimbursment
Transplant complication
17.7
6.8
10
6
E55.9
ICD-10 Finland
Vitamin D deficiency, unspecified
42.0
6.8
8
*
N17.9
ICD-10 Finland
Acute renal failure, unspecified
10.8
6.7
12
12
WW500
NOMESCO Finland
Blood transfusion
8.0
6.6
14
19
AA1AD
NOMESCO Finland
CT of head and brain
3.1
6.6
39
152
WX408
NOMESCO Finland
General anesthesy, balanced
2.7
6.6
52
244
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
6.5
6.5
16
27
I15.1
ICD-10 Finland
Hypertension secondary to other renal disorders
72.8
6.5
7
*
E21.2
ICD-10 Finland
Other hyperparathyroidism
72.8
6.5
7
*
C03CA01
ATC
furosemide; systemic
3.0
6.4
39
156
B05DB
ATC
Hypertonic solutions
+∞
6.3
6
*
E55.0
ICD-10 Finland
Rickets, active
+∞
6.3
6
*
A11CC02
ATC
dihydrotachysterol; oral
+∞
6.3
6
*
EB1BA
NOMESCO Finland
Extensive intraoral X-ray examination
+∞
6.3
6
*
ZXE10
NOMESCO Finland
More than one and less than three hours
2.4
6.2
65
358
XF400
NOMESCO Finland
ECG with 12 standard connections
3.3
6.2
33
119
TPX10
NOMESCO Finland
Implantation of vascular injection port
10.7
6.1
11
11
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
10.7
6.1
11
11
F10.1
ICD-10 Finland
Mental and behavioural disorders due to use of alcohol, Harmful use
4.9
6.1
19
43
Z2446
NOMESCO Finland
Social worker
4.4
6.1
21
53
Z3231
NOMESCO Finland
Registered nurse
2.6
6.1
52
255
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
4.8
6.0
19
44

Mortality – FinRegistry

Association

Association between endpoint E4_PHOS_MET and mortality.

Females

Parameter HR [95% CI] p-value
E4_PHOS_MET 4.82 [3.0, 7.74] < 0.001
Birth year 0.995 [0.99, 1.0] 0.274

During the follow-up period (1.1.1998 — 31.12.2019), 78 out of 333 females with E4_PHOS_MET died.

Males

Parameter HR [95% CI] p-value
E4_PHOS_MET 3.918 [2.62, 5.86] < 0.001
Birth year 0.991 [0.98, 1.0] 0.048

During the follow-up period (1.1.1998 — 31.12.2019), 99 out of 326 males with E4_PHOS_MET died.

Mortality risk

Mortality risk for people of age

years, who have E4_PHOS_MET.

N-year risk Females Males
1 0.415% 0.867%
5 2.335% 4.788%
10 6.908% 11.571%
15 13.29% 21.978%
20 22.891% 36.068%

Relationships between endpoints

Index endpoint: E4_PHOS_MET – Disorders of phosphorus metabolism and phosphatases

GWS hits: 1

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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