This is a non-core endpoint: only basic statistics are computed.

See these related core endpoints for full statistics:

Q17_CONGEN_MALFO_NERVOUS_SYSTEM

Anencephaly and similar malformations

Endpoint Browser

Q17_ANENC_SIMIL_MALFO

No definition available.

Suggest a new description

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 — Q00 Cause of death: ICD-10 — Q00 2 out of 7 registries used, show all original rules.	11
4. Check minimum number of events None	11
5. Include endpoints None	11
6. Filter based on genotype QC (FinnGen only)	11

Control definitions (FinnGen only)

Control exclude: Q17_CONGEN_MALFO_NERVOUS_SYSTEM

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF4
Parent code in ICD-10: Q0
Name in latin: Anencephalia et malformationes similes

NAME	Q17_ANENC_SIMIL_MALFO
CONTROL_EXCLUDE	Q17_CONGEN_MALFO_NERVOUS_SYSTEM
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q00
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q00
COD_ICD_9
COD_ICD_8
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 Anencephaly and similar malformations 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:

Not enough data for upset plot.

Full data table

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	133	100	32
Only index persons	99	79	20
Unadjusted period prevalence (%)
Whole population	0.00	0.00	0.00
Only index persons	0.00	0.00	0.00
Median age at first event (years)
Whole population	20.97	27.44	0.76
Only index persons	24.01	28.89	4.74

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	11	9	-
Unadjusted period prevalence (%)	0.00	0.00	-
Median age at first event (years)	29.35	28.42	-

-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

No data

-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

unit

cases

controls

-log₁₀(p)

N cases

N controls

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

0.00

0.93

0.0

2.3

—

(40758558) Short blood count panel - Blood

0.00

0.93

0.0

4.0

—

(3018095) Leukocytes [#/volume] in Urine

0.00

0.92

0.0

3.0

—

6.3

—

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

2.80

0.86

3.2

2.7

—

(3030467) Casts [#/volume] in Urine by Automated count

0.00

0.68

0.0

2.4

—

0.3

—

(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum

0.00

0.68

0.0

1.2

—

1.1

—

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

0.00

0.68

0.0

1.9

—

(3002582) Erythrocytes [#/volume] in Urine

0.00

0.67

0.0

2.4

—

8.9

—

(3009508) Creatinine [Moles/volume] in Urine

0.00

0.67

0.0

2.1

—

8.6

—

(36304419) Bacteria [Presence] in Urine

0.00

0.67

0.0

2.3

—

(3002385) Erythrocyte distribution width [Ratio]

0.47

0.52

8.7

10.0

12.9

13.3

—

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

2.09

0.48

5.2

4.2

—

(3037467) Urinalysis macro (dipstick) panel - Urine

0.56

0.44

3.0

4.2

—

(43054914) Glucose tolerance 2 hours panel - Serum or Plasma

0.00

0.44

0.0

2.4

—

(40760892) CBC W Ordered Manual Differential panel - Blood

0.00

0.44

0.0

2.1

—

(3012516) Albumin [Mass/volume] in Urine

0.00

0.44

0.0

2.4

—

260.0

—

(1761868) Lipid panel - Serum or Plasma

1.57

0.29

3.0

1.7

—

(3031040) Bacteria [#/volume] in Urine by Automated count

0.58

0.28

1.4

4.2

—

(3003031) Transferrin.carbohydrate deficient.disialo/Transferrin.total in Serum or Plasma

0.00

0.22

0.0

1.6

—

1.2

—

(36660697) Celiac disease serology panel - Serum

0.00

0.22

0.0

1.1

—

(3005772) Bilirubin.conjugated [Moles/volume] in Serum or Plasma

0.00

0.22

0.0

3.6

—

5.9

—

(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma

0.00

0.22

0.0

1.4

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.22

0.0

1.6

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.22

0.0

1.4

—

(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight

0.00

0.22

0.0

1.4

—

(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma

0.00

0.22

0.0

1.4

—

(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age

0.00

0.22

0.0

1.4

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.22

0.0

1.4

—

(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma

0.00

0.22

0.0

1.7

—

(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(36031861) Influenza virus A and B and SARS-CoV-2 (COVID-19) and Respiratory syncytial virus RNA panel - Respiratory system specimen by NAA with probe detection

0.00

0.0

1.8

—

(3016879) Cocaine [Presence] in Urine

0.00

0.0

1.0

—

(3004716) Salmonella sp identified in Stool by Organism specific culture

0.00

0.0

1.4

—

(40758310) Human epididymis protein 4 [Moles/volume] in Serum or Plasma

0.00

0.0

1.3

—

48.3

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.0

1.3

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

0.00

0.0

2.2

—

29.0

—

(1001926) Buprenorphine [Presence] in Urine by Screen method

0.00

0.0

1.0

—

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

0.00

0.0

2.0

—

(40768793) Breast Pathology biopsy report

0.00

0.0

1.0

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.0

1.0

—

(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.0

—

(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.2

—

(3000494) Fungus identified in Specimen by Culture

0.00

0.0

1.4

—

(3027008) Opiates [Presence] in Urine

0.00

0.0

1.0

—

(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection

0.00

0.0

2.0

—

(3008898) HLA-B27 [Presence]

0.00

0.0

1.0

—

(3013742) Prealbumin [Mass/volume] in Serum or Plasma

0.00

0.0

3.0

—

0.2

—

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

0.00

0.0

1.3

—

(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma

0.00

0.0

1.3

—

(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain

0.00

0.0

1.9

—

(3048929) Epstein Barr virus Ab [Presence] in Serum

0.00

0.0

1.0

—

(3028300) Cannabinoids [Presence] in Urine

0.00

0.0

1.0

—

(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal

0.00

0.0

1.0

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

0.0

1.0

—

(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture

0.00

0.0

2.7

—

(3044889) 12 lead EKG panel

0.93

0.00

1.8

2.3

—

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

0.00

0.0

1.1

—

(4035726)

0.00

0.0

1.2

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_ANENC_SIMIL_MALFO and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_ANENC_SIMIL_MALFO.

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_ANENC_SIMIL_MALFO – Anencephaly and similar malformations

GWS hits: -

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

Loading data

Anencephaly and similar malformations

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