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

See these related core endpoints for full statistics:

Q17_CONGEN_MALFO_POSTERI_SEGMENT_EYE

Congenital malformation of vitreous humour

Endpoint Browser

Q17_CONGEN_MALFO_VITHU

No definition available.

Suggest a new description

Endpoint definition

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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 — Q14.0 Cause of death: ICD-10 — Q14.0 2 out of 7 registries used, show all original rules.	12
4. Check minimum number of events None	12
5. Include endpoints None	12
6. Filter based on genotype QC (FinnGen only)	12

Control definitions (FinnGen only)

Control exclude: Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF6v3

NAME	Q17_CONGEN_MALFO_VITHU
CONTROL_EXCLUDE	Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q140
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	Q140
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

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List of similar endpoints to Congenital malformation of vitreous humour based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

Case counts by codes

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FinnGen case counts by registry codes:

Not enough data for upset plot.

Full data table

Summary Statistics

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-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	272	106	165
Only index persons	206	79	127
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	4.95	3.36	5.67
Only index persons	7.27	5.78	8.20

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	12	-	9
Unadjusted period prevalence (%)	0.00	-	0.00
Median age at first event (years)	16.03	-	16.01

-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)

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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

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(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

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

0.00

0.91

0.0

2.8

—

(40760892) CBC W Ordered Manual Differential panel - Blood

0.00

0.67

0.0

8.7

—

(1761868) Lipid panel - Serum or Plasma

0.00

0.67

0.0

2.7

—

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

1.80

0.47

5.2

5.1

—

(3005013) Prostate Specific Ag Free [Mass/volume] in Serum or Plasma

0.00

0.44

0.0

2.9

—

0.7

—

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

0.00

0.22

0.0

2.3

—

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

0.00

0.22

0.0

1.8

—

0.2

—

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

0.00

0.22

0.0

1.2

—

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

0.00

0.22

0.0

1.0

—

(3000492) Spirometry study

0.00

0.22

0.0

1.2

—

(3023709) Somatotropin [Mass/volume] in Serum or Plasma

0.00

0.0

3.6

—

4.7

—

(3048816) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Blood

0.00

0.0

9.6

—

1.3

—

(3027008) Opiates [Presence] in Urine

0.00

0.0

2.2

—

(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection

0.00

0.0

2.3

—

(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.2

—

(40761535) Cells panel - Urine sediment

0.00

0.0

3.2

—

(40761536) Microorganisms panel - Urine sediment

0.00

0.0

4.2

—

(3035637) Corticotropin [Mass/volume] in Plasma

0.00

0.0

2.8

—

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

0.00

0.0

1.4

—

(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction

0.00

0.0

13.7

—

312.7

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.0

1.5

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.0

2.2

—

(3017732) Neutrophils [#/volume] in Blood

0.00

0.0

3.4

—

2.9

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.0

3.6

—

(3037467) Urinalysis macro (dipstick) panel - Urine

0.87

0.00

2.4

3.8

—

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

0.00

0.0

12.4

—

4.4

—

(3002173) Hemoglobin [Mass/volume] in Arterial blood

0.00

0.0

3.2

—

132.5

—

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

0.00

0.0

1.4

—

(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.2

—

(3000067) Parathyrin.intact [Mass/volume] in Serum or Plasma

0.00

0.0

3.5

—

63.3

—

(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection

0.00

0.0

2.6

—

(37019628) Gastrointestinal bacterial pathogens panel - Stool by NAA with probe detection

0.00

0.0

1.2

—

(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma

0.00

0.0

2.3

—

357.4

—

(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay

0.00

0.0

13.2

—

178.0

—

(3028026) IgM [Mass/volume] in Serum or Plasma

0.00

0.0

3.4

—

0.6

—

(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.2

—

(3028300) Cannabinoids [Presence] in Urine

0.00

0.0

2.2

—

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

0.00

0.0

2.6

—

(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.1

—

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

0.00

0.0

1.2

—

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

0.00

0.0

2.0

—

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

0.00

0.0

1.2

—

(4010399)

0.00

0.0

1.6

—

(3022145) Colonoscopy Study observation

0.00

0.0

1.3

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

0.0

2.2

—

(3019225) pH of Specimen

0.00

0.0

6.4

—

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

0.00

0.0

2.0

—

(3020059) Calcium [Moles/volume] corrected for albumin in Serum or Plasma

0.00

0.0

3.1

—

2.5

—

(4035726)

0.00

0.0

2.3

—

(3016879) Cocaine [Presence] in Urine

0.00

0.0

2.2

—

(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma

0.00

0.0

9.4

—

(3036489) Thrombin time

0.00

0.0

14.0

—

23.6

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_CONGEN_MALFO_VITHU and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_MALFO_VITHU.

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_CONGEN_MALFO_VITHU – Congenital malformation of vitreous humour

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

Congenital malformation of vitreous humour

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