This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
Fetal alcohol syndrome (dysmorphic)
Q17_FETAL_ALCOHOL_SYNDR_DYSMORPHIC
No definition available.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
31 |
4. Check minimum number of eventsNone |
31 |
5. Include endpointsNone |
31 |
6. Filter based on genotype QC (FinnGen only) |
31 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Extra metadata
- Level in the ICD hierarchy
- 4
- Special
- FAS
- First used in FinnGen datafreeze
- DF4
- Parent code in ICD-10
- Q86
- Name in latin
- Syndroma fetale alcoholicum [dysmorphicum]
Similar endpoints
↥List of similar endpoints to
Fetal alcohol syndrome (dysmorphic)
based on the number of shared cases.
Similar with more cases:
- Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
- Exclusion endpoint for clefts
- Other congenital malformations
- Alcohol use disorder, Swedish definition
- Alcohol related diseases, tilastokeskus definition
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 1003 | 434 | 569 |
| Only index persons | 861 | 385 | 476 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.02 |
| Only index persons | 0.02 | 0.01 | 0.02 |
| Median age at first event (years) | |||
| Whole population | - | 6.34 | 6.93 |
| Only index persons | 7.11 | 6.83 | 7.34 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 31 | 16 | 15 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 12.54 | 9.52 | 15.75 |
-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
Not a core endpoint, no data to show.
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.
No data available
LabWAS
↥OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
unit
cases
controls
-log10(p)
N cases
N controls
(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma
19
89
3.93
3.36
7.9
4.4
umol/l
8.8
10.8
0.53
19
80
(3022313) Gas panel - Capillary blood
6
12
5.90
2.53
2.8
11.2
—
—
—
0
0
(40758558) Short blood count panel - Blood
14
63
3.23
2.47
12.5
5.8
—
—
—
0
0
(40761535) Cells panel - Urine sediment
5
9
6.37
2.30
7.4
3.3
—
—
—
0
0
(3033658) Prothrombin time (PT) actual/Normal
11
47
3.08
2.06
2.3
2.2
%
82.2
93.6
1.27
11
47
(3003458) Phosphate [Moles/volume] in Serum or Plasma
7
24
3.46
1.85
5.7
7.5
mmol/l
1.2
1.2
—
7
24
(36304419) Bacteria [Presence] in Urine
12
59
2.69
1.72
3.0
2.2
—
—
—
0
0
(3044889) 12 lead EKG panel
18
110
2.52
1.65
2.4
2.6
—
—
—
0
0
(3000991) Gas panel - Venous blood
6
21
3.29
1.59
21.7
3.0
—
—
—
0
0
(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)
26
199
2.89
1.54
15.3
8.0
ml/min/173m2
105.2
101.1
0.35
19
150
(3024354) Oxygen [Partial pressure] in Venous blood
6
23
2.98
1.44
10.5
2.1
kpa
5.5
5.8
—
6
23
(3013512) EKG study
8
36
2.64
1.37
1.9
2.7
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
13
74
2.30
1.33
5.8
2.4
—
—
—
0
0
(3012544) pH of Venous blood
6
25
2.72
1.31
10.5
2.6
—
—
—
0
0
(3021447) Carbon dioxide [Partial pressure] in Venous blood
6
25
2.72
1.31
10.5
2.4
kpa
6.5
5.7
—
6
25
(3023368) Bacteria identified in Blood by Culture
8
39
2.41
1.27
9.6
3.4
—
—
—
0
0
(3007628) Bicarbonate [Moles/volume] standard in Venous blood
5
19
2.93
1.26
1.8
2.1
mmol/l
26.4
23.9
—
5
19
(3042936) Bacteria identified in Isolate by Culture
5
21
2.64
1.13
2.6
1.3
—
—
—
0
0
(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma
5
21
2.64
1.13
1.0
2.0
—
785.9
—
0
9
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
18
231
0.47
1.10
3.6
3.8
—
—
—
0
0
(3007853) Bacteria identified in Skin by Aerobe culture
6
27
2.51
1.00
1.3
1.3
—
—
—
0
0
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
8
45
2.04
0.93
3.6
1.9
—
—
—
0
0
(3009508) Creatinine [Moles/volume] in Urine
10
58
2.07
0.93
5.3
2.5
mmol/l
7.2
8.4
—
10
49
(3044640) Blood type and Crossmatch panel - Blood
10
60
1.98
0.84
4.0
1.9
—
—
—
0
0
(3002032) Base excess in Venous blood by calculation
5
24
2.28
0.78
12.4
2.5
mmol/l
3.8
1.4
—
5
14
(42870588) Differential panel, method unspecified - Blood
12
79
1.85
0.77
8.3
4.9
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
10
64
1.83
0.69
4.5
2.8
—
—
—
0
0
(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma
8
53
1.68
0.65
4.6
2.4
u/l
50.3
53.5
—
8
48
(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma
0
20
0.00
0.63
0.0
1.5
—
—
—
0
0
(3002256) Pathology report gross observation
0
20
0.00
0.63
0.0
1.4
—
—
—
0
0
(3022145) Colonoscopy Study observation
0
20
0.00
0.63
0.0
1.6
—
—
—
0
0
(3023421) Hepatitis B virus surface Ab [Units/volume] in Serum
0
21
0.00
0.62
0.0
1.8
—
214.1
—
0
8
(3037467) Urinalysis macro (dipstick) panel - Urine
19
155
1.58
0.51
4.6
3.8
—
—
—
0
0
(3011288) Drugs identified in Urine by Screen method
5
32
1.67
0.45
2.2
1.7
—
—
—
0
0
(3021879) Hepatitis B virus core Ab [Presence] in Serum
5
33
1.61
0.44
1.4
1.8
—
—
—
0
0
(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma
0
16
0.00
0.42
0.0
1.4
—
—
—
0
0
(3003327) Ova and parasites identified in Stool by Light microscopy
0
17
0.00
0.42
0.0
1.4
—
—
—
0
0
(3018677) aPTT in Platelet poor plasma by Coagulation assay
0
18
0.00
0.41
0.0
1.6
—
29.5
—
0
18
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
5
36
1.46
0.40
3.4
1.8
—
—
—
0
0
(3006504) Eosinophils/100 leukocytes in Blood
15
121
1.46
0.39
9.5
5.0
%
2.6
2.8
0.14
15
116
(3011397) Hemoglobin [Presence] in Urine by Test strip
6
43
1.49
0.38
8.8
3.1
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
11
88
1.39
0.27
1.9
1.8
—
—
—
0
0
(3002385) Erythrocyte distribution width [Ratio]
24
220
1.40
0.27
20.8
9.4
%
13.4
13.2
0.32
24
215
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
7
90
0.71
0.27
2.3
1.9
—
—
—
0
0
(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid
0
11
0.00
0.22
0.0
1.0
—
—
—
0
0
(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay
0
10
0.00
0.22
0.0
1.2
—
—
—
0
0
(3017895) Helicobacter pylori Ab [Units/volume] in Serum
0
12
0.00
0.21
0.0
1.6
—
—
—
0
0
(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture
0
13
0.00
0.21
0.0
1.6
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
12
101
1.31
0.21
9.8
3.8
—
—
—
0
0
(3016888) Borrelia burgdorferi IgG Ab [Units/volume] in Serum
0
14
0.00
0.20
0.0
1.4
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
5
67
0.70
0.19
1.8
1.9
—
—
—
0
0
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
11
93
1.28
0.17
2.5
2.4
—
—
—
0
0
(3001122) Ferritin [Mass/volume] in Serum or Plasma
12
105
1.23
0.14
2.3
2.5
ug/l
40.8
58.1
1.01
12
99
(3017143) Hepatitis C virus Ab [Presence] in Serum
6
56
1.09
0.09
1.8
1.8
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
6
69
0.84
0.08
3.5
2.5
—
—
—
0
0
(3019832) Treponema pallidum Ab [Presence] in Serum
7
82
0.81
0.08
1.4
1.8
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
10
90
1.16
0.06
1.4
1.8
—
—
—
0
0
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
10
97
1.05
0.00
2.9
2.7
—
—
—
0
0
(46235355) HIV 1 and 2 tests - Meaningful Use set
11
113
0.96
0.00
2.1
2.3
—
—
—
0
0
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
5
57
0.85
0.00
1.8
1.4
—
—
—
0
0
(3036489) Thrombin time
0
7
0.00
0.00
0.0
1.3
—
19.9
—
0
7
(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3019150) Specific gravity of Urine by Refractometry
6
61
0.98
0.00
9.0
2.2
—
1.0
—
0
8
(3007566) Smooth muscle Ab [Titer] in Serum
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(40765089) Chromosome analysis panel - Blood by G-banded
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3034770) Mitochondria Ab [Titer] in Serum
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(4268621)
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(3047007) Chlamydophila sp Ab [Presence] in Serum
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3004588) Protein electrophoresis panel - Serum or Plasma
0
6
0.00
0.00
0.0
12.3
—
—
—
0
0
(3010726) Horse dander IgE Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
8
85
0.92
0.00
8.1
2.8
—
—
—
0
0
(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(40761511) CBC panel - Blood by Automated count
26
260
1.00
0.00
26.6
7.5
—
—
—
0
0
(3016251) Hemoglobin.gastrointestinal [Presence] in Stool
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3015736) pH of Urine
9
90
1.00
0.00
6.8
2.4
—
—
—
0
0
(40768793) Breast Pathology biopsy report
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3023150) Myeloperoxidase Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3037756) Immunofixation for Serum or Plasma
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection
6
61
0.98
0.00
2.7
2.1
—
—
—
0
0
(3004248) Sex hormone binding globulin [Moles/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.3
—
28.7
—
0
7
(3025130) Human papilloma virus identified in Specimen
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3034603) RHD gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method
0
8
0.00
0.00
0.0
1.1
—
98.1
—
0
8
(3038177) Helicobacter pylori Ab [Presence] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint Q17_FETAL_ALCOHOL_SYNDR_DYSMORPHIC and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have Q17_FETAL_ALCOHOL_SYNDR_DYSMORPHIC.| N-year risk | Females | Males |
|---|---|---|
| 1 | No data | No data |
| 5 | No data | No data |
| 10 | No data | No data |
| 15 | No data | No data |
| 20 | No data | No data |
Relationships between endpoints
↥Index endpoint: Q17_FETAL_ALCOHOL_SYNDR_DYSMORPHIC – Fetal alcohol syndrome (dysmorphic)
GWS hits: -
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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