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 rule None	520210
2. Check conditions None	520210
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — Q86.0 Cause of death: ICD-10 — Q86.0 2 out of 7 registries used, show all original rules.	31
4. Check minimum number of events None	31
5. Include endpoints None	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]

NAME	Q17_FETAL_ALCOHOL_SYNDR_DYSMORPHIC
CONTROL_EXCLUDE
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q860
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q860
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Similar endpoints

↥

List of similar endpoints to Fetal alcohol syndrome (dysmorphic) based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

Case counts by codes

↥

FinnGen case counts by registry codes:

Upset plot

Full data table

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

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma

3.93

3.36

7.9

4.4

8.8

10.8

umol/l

0.53

(3022313) Gas panel - Capillary blood

5.90

2.53

2.8

11.2

—

(40758558) Short blood count panel - Blood

3.23

2.47

12.5

5.8

—

(40761535) Cells panel - Urine sediment

6.37

2.30

7.4

3.3

—

(3033658) Prothrombin time (PT) actual/Normal

3.08

2.06

2.3

2.2

82.2

93.6

1.27

(3003458) Phosphate [Moles/volume] in Serum or Plasma

3.46

1.85

5.7

7.5

1.2

mmol/l

—

(36304419) Bacteria [Presence] in Urine

2.69

1.72

3.0

2.2

—

(3044889) 12 lead EKG panel

110

2.52

1.65

2.4

2.6

—

(3000991) Gas panel - Venous blood

3.29

1.59

21.7

3.0

—

(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)

199

2.89

1.54

15.3

8.0

105.2

101.1

ml/min/173m2

0.35

150

(3024354) Oxygen [Partial pressure] in Venous blood

2.98

1.44

10.5

2.1

5.5

5.8

kpa

—

(3013512) EKG study

2.64

1.37

1.9

2.7

—

(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count

2.30

1.33

5.8

2.4

—

(3012544) pH of Venous blood

2.72

1.31

10.5

2.6

—

(3021447) Carbon dioxide [Partial pressure] in Venous blood

2.72

1.31

10.5

2.4

6.5

5.7

kpa

—

(3023368) Bacteria identified in Blood by Culture

2.41

1.27

9.6

3.4

—

(3007628) Bicarbonate [Moles/volume] standard in Venous blood

2.93

1.26

1.8

2.1

26.4

23.9

mmol/l

—

(3042936) Bacteria identified in Isolate by Culture

2.64

1.13

2.6

1.3

—

(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma

2.64

1.13

1.0

2.0

—

785.9

—

(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection

231

0.47

1.10

3.6

3.8

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.51

1.00

1.3

—

(46236098) ABO and Rh group [Type] in Blood by Confirmatory method

2.04

0.93

3.6

1.9

—

(3009508) Creatinine [Moles/volume] in Urine

2.07

0.93

5.3

2.5

7.2

8.4

mmol/l

—

(3044640) Blood type and Crossmatch panel - Blood

1.98

0.84

4.0

1.9

—

(3002032) Base excess in Venous blood by calculation

2.28

0.78

12.4

2.5

3.8

1.4

mmol/l

—

(42870588) Differential panel, method unspecified - Blood

1.85

0.77

8.3

4.9

—

(3026008) Bacteria identified in Urine by Culture

1.83

0.69

4.5

2.8

—

(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma

1.68

0.65

4.6

2.4

50.3

53.5

u/l

—

(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma

0.00

0.63

0.0

1.5

—

(3002256) Pathology report gross observation

0.00

0.63

0.0

1.4

—

(3022145) Colonoscopy Study observation

0.00

0.63

0.0

1.6

—

(3023421) Hepatitis B virus surface Ab [Units/volume] in Serum

0.00

0.62

0.0

1.8

—

214.1

—

(3037467) Urinalysis macro (dipstick) panel - Urine

155

1.58

0.51

4.6

3.8

—

(3011288) Drugs identified in Urine by Screen method

1.67

0.45

2.2

1.7

—

(3021879) Hepatitis B virus core Ab [Presence] in Serum

1.61

0.44

1.4

1.8

—

(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma

0.00

0.42

0.0

1.4

—

(3003327) Ova and parasites identified in Stool by Light microscopy

0.00

0.42

0.0

1.4

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

0.00

0.41

0.0

1.6

—

29.5

—

(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection

1.46

0.40

3.4

1.8

—

(3006504) Eosinophils/100 leukocytes in Blood

121

1.46

0.39

9.5

5.0

2.6

2.8

0.14

116

(3011397) Hemoglobin [Presence] in Urine by Test strip

1.49

0.38

8.8

3.1

—

(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture

1.39

0.27

1.9

1.8

—

(3002385) Erythrocyte distribution width [Ratio]

220

1.40

0.27

20.8

9.4

13.4

13.2

0.32

215

(3019284) Hepatitis B virus surface Ag [Presence] in Serum

0.71

0.27

2.3

1.9

—

(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid

0.00

0.22

0.0

1.0

—

(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay

0.00

0.22

0.0

1.2

—

(3017895) Helicobacter pylori Ab [Units/volume] in Serum

0.00

0.21

0.0

1.6

—

(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture

0.00

0.21

0.0

1.6

—

(3001079) Blood group antibody screen [Presence] in Serum or Plasma

101

1.31

0.21

9.8

3.8

—

(3016888) Borrelia burgdorferi IgG Ab [Units/volume] in Serum

0.00

0.20

0.0

1.4

—

(40768804) Tissue Pathology biopsy report

0.70

0.19

1.8

1.9

—

(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection

1.28

0.17

2.5

2.4

—

(3001122) Ferritin [Mass/volume] in Serum or Plasma

105

1.23

0.14

2.3

2.5

40.8

58.1

ug/l

1.01

(3017143) Hepatitis C virus Ab [Presence] in Serum

1.09

0.09

1.8

—

(3041096) Erythrocytes [Presence] in Urine by Automated

0.84

0.08

3.5

2.5

—

(3019832) Treponema pallidum Ab [Presence] in Serum

0.81

0.08

1.4

1.8

—

(3003694) ABO and Rh group [Type] in Blood

1.16

0.06

1.4

1.8

—

(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection

1.05

0.00

2.9

2.7

—

(46235355) HIV 1 and 2 tests - Meaningful Use set

113

0.96

0.00

2.1

2.3

—

(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep

0.85

0.00

1.8

1.4

—

(3036489) Thrombin time

0.00

0.0

1.3

—

19.9

—

(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method

0.00

0.0

1.0

—

(3019150) Specific gravity of Urine by Refractometry

0.98

0.00

9.0

2.2

—

1.0

—

(3007566) Smooth muscle Ab [Titer] in Serum

0.00

0.0

1.1

—

(40765089) Chromosome analysis panel - Blood by G-banded

0.00

0.0

1.0

—

(3034770) Mitochondria Ab [Titer] in Serum

0.00

0.0

1.1

—

(4268621)

0.00

0.0

1.8

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.0

1.1

—

(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence

0.00

0.0

1.1

—

(3004588) Protein electrophoresis panel - Serum or Plasma

0.00

0.0

12.3

—

(3010726) Horse dander IgE Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip

0.92

0.00

8.1

2.8

—

(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection

0.00

0.0

1.3

—

(40761511) CBC panel - Blood by Automated count

260

1.00

0.00

26.6

7.5

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

0.00

0.0

1.7

—

(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay

0.00

0.0

1.4

—

(3015736) pH of Urine

1.00

0.00

6.8

2.4

—

(40768793) Breast Pathology biopsy report

0.00

0.0

1.2

—

(3023150) Myeloperoxidase Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(3037756) Immunofixation for Serum or Plasma

0.00

0.0

2.0

—

(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain

0.00

0.0

1.0

—

(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection

0.98

0.00

2.7

2.1

—

(3004248) Sex hormone binding globulin [Moles/volume] in Serum or Plasma

0.00

0.0

1.3

—

28.7

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.0

1.5

—

(3034603) RHD gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal

0.00

0.0

1.6

—

(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method

0.00

0.0

1.1

—

98.1

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

0.0

1.0

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_FETAL_ALCOHOL_SYNDR_DYSMORPHIC and mortality.

Females

No data

Males

No data

Mortality 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

Loading data

Fetal alcohol syndrome (dysmorphic)

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

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

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-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

CodeWAS (R11)

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints