Klinefelter's syndrome: A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.
Chromosomal abnormalities, not elsewhere classified
DOID EFO Endpoint Browser PheWeb
Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
519870 |
1. Apply sex-specific ruleNone |
519870 |
2. Check conditionsNone |
519870 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
849 |
4. Check minimum number of eventsNone |
849 |
5. Include endpoints
|
849 |
6. Filter based on genotype QC (FinnGen only) |
694 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Extra metadata
- Level in the ICD hierarchy
- 2
- First used in FinnGen datafreeze
- DF4
- Parent code in ICD-10
- Q
- Name in latin
- Abnormitates chromosomales non alibi classificatae
Similar endpoints
↥List of similar endpoints to
Chromosomal abnormalities, not elsewhere classified
based on the number of shared cases.
Similar with more cases:
- Congenital malformations, deformations and chromosomal abnormalities
- Congenital malformations, deformations and chromosomal abnormalities, including avohilmo
- Any event in hilmo or specialist outpatient
Similar with less cases:
Case counts by codes
↥Summary Statistics
↥-FinRegistry-
This endpoint is excluded (different definition than used in FinnGen).
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 694 | 412 | 282 |
| Unadjusted period prevalence (%) | 0.14 | 0.15 | 0.13 |
| Median age at first event (years) | 27.30 | 31.17 | 21.64 |
-FinnGen-
Age distribution of first events
-FinnGen-
Year distribution of first events
-FinnGen-
Cumulative Incidence Function
CodeWAS
↥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
- 848
- Matched controls
- 8458
TimeCodeWAS
↥TODO / Current known limitations:
- Only showing the top 300 codes, because showing all (sometimes 20k) makes the page too slow.
- Legend / how to read the glyphs.
- Show details (e.g. Fisher or Chi-square test, LR+, etc.) when clicking on a row.
- Explanation on the underlying data / how the TimeCodeWAS is done (e.g. matched cases / controls, eligibility).
- Download CSV.
- No filters and sorters.
- Limited amount of endpoints (~400) having TimeCodeWAS data.
- Cross-links to Risteys lab test pages for lab test codes.
No TimeCodeWAS data yet for this endpoint. Try one of these:
- AB1_ASPERGILLOSIS
- AB1_CHLAMY_OTHER
- AB1_EARLY_SYPHILIS
- AB1_EARLY_SYPHILIS_WIDE
- AB1_EBV
- AB1_HIV_NOS
- AB1_INFECT_PARASIT_WIDE
- AB1_LATE_SYPHILIS_WIDE
- AB1_LYME_WIDE
- AB1_MUMPS_WIDE
- AB1_OTHER_PROTOZOAL
- AB1_OTHER_SPIROCHAETAL
- AB1_PEDICULOSIS_ACARIASIS_OTHERINFEST
- AB1_PEDICULOSIS_AND_PHTHIRIAASIS_WIDE
- AB1_PNEUMOCYSTOSIS
- AB1_SEPSIS_BACT_IMPL_WIDE
- AB1_SEPSIS_PARAS_IMPL
- AB1_SEQULAE_POLIO
- AB1_SEXUAL_TRANSMISSION_NOS
- AB1_STREPTO_SEPSIS
- AB1_SYPHILIS_NOS_WIDE
- AB1_TICK_BORNE_ENCEPHALITIS
- AB1_TICK_BORNE_ENCEPHALITIS_WIDE
- AB1_TOXOPLASMOSIS_WIDE
- AB1_VARICELLA
- AB1_VIRAL_HEPATITIS
- AB1_VIRAL_INOTHER_WIDE
- AB1_YAWNS
- AD_U
- AMN2
- ANY_CANC
- ANY_REIMB
- ASTHMA_NOS
- ASTHMA_PNEUMONIA_AND_SEPSIS
- AUD
- C3_ACCESSORY_SINUS_WIDE
- C3_AML_WIDE
- C3_BASAL_CELL_CARCINOMA
- C3_BASEOFTONGUE_WIDE
- C3_CHONDROSARCOMA
- C3_COLORECTAL
- C3_COLORECTAL_ADENO
- C3_DIGESTIVE_ORGANS_NAS
- C3_EYE_BRAIN_NEURO_WIDE
- C3_FOLLICULAR_LYMPHOMA
- C3_GASTRINT_STROM
- C3_LIVER_INTRAHEPATIC_BILE_DUCTS_WIDE
- C3_MANTLE_CELL_LYMPHOMA_WIDE
- C3_NONFOLLICULAR_LYMPHOMA
- C3_NSCLC_ADENO
- C3_NSCLC_SQUAM
- C3_PENIS_WIDE
- C3_RENAL_CELL_CARCINOMA
- C3_SALIVARYNAS_WIDE
- C3_SCLC
- C3_SMALL_INTESTINE_ADENO
- C3_TESTIS
- C3_TONGUENAS_WIDE
- C3_UNCERTAIN_SECONDARY
- C3_URETER
- C3_URETER_WIDE
- CD2_BENIGN_BRAIN_CNS
- CD2_BENIGN_BRONCHUS_LUNG
- CD2_BENIGN_CONNSOFT_NOS
- CD2_BENIGN_CONNSOFT_UPPERLIMB
- CD2_BENIGN_DESCENDING_COLON
- CD2_BENIGN_ENDOCRINE_OTH
- CD2_BENIGN_HEAMANGIOMA_LYMPHANGIOMA
- CD2_BENIGN_MELANOCYTIC_EAR
- CD2_BENIGN_MELANOCYTIC_LOWERLIMB
- CD2_BENIGN_MENINGES_SPINAL
- CD2_BENIGN_OESOPHAGUS
- CD2_BENIGN_OROPHA_OTHER
- CD2_BENIGN_PROSTATE
- CD2_BENIGN_RETROPERITONEUM_PERITONEUM
- CD2_BENIGN_SKIN_EYELID
- CD2_INSITU_BREAST_NOS
- CD2_INSITU_LARYNX
- CHIRBIL_NAS
- CHRONHEP_NAS
- COLITCOLLAG
- COLITENTER
- C_STROKE
- D3_ANAEMIA_B12_DEF
- D3_BLOODNAS
- D3_COAGDEF_PURPUR_HAEMORRHAGIC
- D3_COMBIMMUDEF
- D3_COMPLEMENTDEF
- D3_HEREDFVIIIDEF
- D3_HYPERSPLENISM
- D3_NEFELOF
- D3_NONAIHA_OTHER
- D3_SCNDPOLYCYTHAEMIA
- D3_SICKLECELLDIS
- D3_SIDEROANAEMIAHERED
- D3_THALASSAEMIA
- D3_THROMBOCYTOPENIANAS
- DM_RETINOPATHY_EXMORE
- DRY_AMD_EARLY
- E4_ADDISON
- E4_ADRENAS
- E4_AMYL_ORGAN
- E4_CONGENITAL_HYPOTHYROIDISM_WITHOUT_GOITER
- E4_DIABINSIPIDUS
- E4_DM1
- E4_ENDONUTRMET
- E4_GRAVES_STRICT
- E4_IDIOPATHIC_HYPERCALCIURIA
- E4_IRON_MET
- E4_LACTOSEINT
- E4_MARASMUS
- E4_MINERAL_MET
- E4_NUTRIDEF
- E4_PHOS_MET
- E4_PITUDISNAS
- E4_PLASMAPROT
- E4_PORBILIRNAS
- E4_PUBDISNAS
- E4_SHORT
- E4_SHORT_STATURE_STARTING_BEFORE_BIRTH
- E4_TESTICDYSNAS
- E4_THYCRISIS
- E4_THYMUSDISNAS
- EPISEIZALCO
- F5_EATOTH
- F5_EMOPER
- F5_KELAMENT
- F5_MENTORG
- F5_MILDRET
- F5_PERSMOOD
- F5_PERSOCHANGE
- F5_SCHIZOAFF
- F5_SCHZPHR
- F5_SEDAHYP
- F5_SEVRET
- F5_SPEECH
- F5_STIMUL
- FG_OTHHEART
- G6_ALZHEIMER
- G6_CEROEDEMA
- G6_CLUSTHEADACHE_STRICT
- G6_HCOTHUNS
- G6_MENINGVIR
- G6_MONONPOTHUS
- G6_MYOTDIS
- G6_NEUATR
- G6_NMO
- G6_PARDIPLE
- G6_POLYNEU
- G6_POSTVIRFAT
- G6_POSTZOST
- G6_SCIALE
- GASTRO_OPERATIONS
- GE
- GE_MODE
- GLP1ANA
- H7_BCKRNDRETINOPAT
- H7_BINOCUMOVOTH
- H7_CHOROIDRETINA
- H7_CHORSCAR
- H7_CONJUNCTIVITIS
- H7_CONJUNCTIVITISACUNONATOPIC_WIDE
- H7_EYELIDINFLAMMATION
- H7_EYELIDINFLAMMATION_WIDE
- H7_GLAUCCLOSEPRIM
- H7_GLAUCPRIMOPEN
- H7_LENS
- H7_NYSTAGMUS
- H7_OTHENDOPHTHALMITIS
- H7_OTHERCONJ
- H7_POSTOPEYENAS
- H7_RETINANAS
- H7_VISDISTNAS
- H7_VITRBODYGLOBE
- H8_BPV
- H8_EXCESSIVE_EARWAX
- H8_EXT_MALIGN
- H8_HL_DEAFMUT
- H8_HL_NAS
- H8_MENIERE
- H8_OTIMEDNAS
- HEPATITIS_ACUTE_OTHER_VIRAL
- HERING_UNILATERAL
- HLP_C3_AML
- HLP_C3_ASTROCYTOMA
- I9_ANGIO
- I9_CARDMYOALC
- I9_CARDMYOHYP
- I9_CEREBDOTH
- I9_CONDUCTIO
- I9_HEARTFAIL_EXMORE
- I9_HYPTENSESS
- I9_HYPTENSPUL
- I9_HYPTENSRD
- I9_OTHILLHEART
- I9_PULMEMB
- I9_SAHANEUR
- I9_THROMBANG
- I9_VARICVEOES
- ILD_ENDPOINTS
- ILD_HOSPITAL_PULM_INFECT
- INCREASEDMUSCLETONE
- INSULIN_SHORTFAST
- INTERSTITIAL_CYSTIT_CHRONIC
- J10_ARDS
- J10_ASTHMA_EXMORE
- J10_CHRONRHINITIS
- J10_COPDNAS_INCLAVO
- J10_EXTERLUNG
- J10_INFLUPNEU
- J10_LOWERINF
- J10_PNEUMOBACT
- J10_PULMEOS
- J10_RESPDISOTH
- K11_ALCGASTR
- K11_APPENDECTOMY
- K11_APPENDOTH
- K11_CD_STRICT2
- K11_CHOLANGI
- K11_CHOLELITH
- K11_CONSTIPATION
- K11_EMBIMPACT_TEETH
- K11_FISSANAL
- K11_GIDISEASES
- K11_HYPOPLASIA_ENAMEL_INCLAVO
- K11_MAXIL_CANINE_OPER
- K11_MAXIL_CANINE_PALAT
- K11_MIH_CARIES
- K11_ORALCYST
- K11_OTHILEUS
- K11_PERIODONTAL_NOS
- K11_PULP_PERIAPICAL_INCLAVO
- K11_UC_STRICT2
- K11_ULCER
- K11_UMBHER
- KRA_PSY_CHILDOTH
- KRA_PSY_DEVWIDE
- KRA_PSY_EATING
- KRA_PSY_MOTOR_EXMORE
- KRA_PSY_SPEELING
- KRA_PSY_SPEELING_EXMORE
- L12_ACANTHNIGRICANS
- L12_ATROPHICSKIN
- L12_CHLOASMA
- L12_DERM_NAS
- L12_ERYTHEMANODOSUM
- L12_HAIRLOSS_SCARNAS
- L12_HYPERTRICHOSIS
- L12_INFECT_DERM
- L12_INTERNALSUBSTANCEDERM
- L12_OTHERSKINSUBCUTIS
- L12_PSORI_PUSTGEN
- L12_PSORI_VULG
- M13_ARTHROSIS_OTH
- M13_BURSELBOWOTH
- M13_CARTILAGE
- M13_DEFORMACQ
- M13_DEQUERVAIN
- M13_DERMATOMYOTH
- M13_DISSYNOTENDNAS
- M13_EARLY_LUMBAR_PROLAPSE
- M13_JUVERHEU
- M13_KNEEDERANGEMENTS
- M13_KNUCKLEPADS
- M13_OSTEOCHONDRO
- M13_OSTEOMYELITIS
- M13_OTERSPECARTHR
- M13_PROGRESSIVE_SYSTEMIC_SCLEROSIS
- M13_RELAPSPOLYCHONDR
- M13_SHOULDERBURSITIS
- M13_SPONDYLINFLAMNAS
- M13_SPONTRUPTSYNOTEND
- M13_SYSTCONNECT
- M13_SYSTSLCE
- M13_THORACISPINEPAIN
- M13_TIBIALCOLLATERAL
- M13_VERTEBCOLLAPSE
- MNMED_RILUZOLE
- N14_BARTHOABSCESS
- N14_CALCULOWER
- N14_ENDOMET_INFERT
- N14_FEMALEGENNONINF
- N14_MEMBRANOUS_NEPHROPATHY
- N14_MESNRUIRREG
- N14_OTHFEMPELINF
- N14_OTHNONINFVAG
- N14_PROSTHYPERPLA
- N14_URETHRITISANDURSYNDR
- N14_UTER_POLYP
- N14_VULVAL_HSIL
- O15_ANTEPART_HAEM_NAS
- O15_CONCEPT_ABNORM
- O15_DELIV_SPONT
- O15_ICP
- O15_PREG_BIRTH_PUERP
- O15_PRE_OR_ECLAMPSIA
- OFFICIAL_TILASTOKESKUS_DEATH
- OPER_JFB31
- PD2ND_EXMORE
- PDMED_PERGOLIDE
- PD_DEMENTIA_EXMORE
- PNEUMO_SEPTHICHE
- Q17_ASD
- Q17_AVSD
- Q17_CLEFT_HARD_PALATE_NOS
- Q17_CLEFT_LIP_CLEFT_PALATE
- Q17_CLEFT_PALATE
- Q17_CONGENITAL_PTOSIS
- Q17_CONGENITAL_VESICOURETERAL_REFLUX
- Q17_CONGEN_ICHTHYOSIS
- Q17_CONGEN_MALFO_LUNG
- Q17_CONGEN_MALFO_MUSCULOS_SYSTEM_NOT_ELSEW_CLASSIFIED
- Q17_CONGEN_MALFO_OESOPHAGUS
- Q17_CYSTIC_DISEASE_OF_LIVER
- Q17_CYSTIC_KIDNEY_DISEA_WIDE
- Q17_ECTOPIC_TESTIS
- Q17_FAMILIAL_BENIGN_PEMPHIGUS
- Q17_FOLLICULAR_KERATOSIS_WIDE
- Q17_HYPOSPADIAS
- Q17_NEUROFIBROMATOSIS_1
- Q17_OSTEOGEN_IMPERFECTA
- Q17_OTHER_CONGEN_MALFO_BRAIN
- Q17_OTHER_CONGEN_MALFO_CIRCULATO_SYSTEM
- Q17_OTHER_CONGEN_MALFO_INTEG_WIDE
- Q17_OTHER_CONGEN_MALFO_INTESTINE_WIDE
- Q17_OTHER_CONGEN_MALFO_WIDE
- Q17_REDUCT_DEFECTS_LOWER_LIMB
- Q17_SUPERNUMERARY_URETER
- Q17_TUBEROUS_SCLEROSIS
- R18_ABNORMAL_FINDI_EXAMI_BLOOD_WO_DIAGNOSIS
- R18_ABNORMAL_FINDI_EXAMI_URINE_WO_DIAGNOSIS
- R18_ABNORMAL_FINDI_NIPPLE_DISCH_SYNOVIAL_FLUID_WOUND_SECRE
- R18_DISTU_SMELL_TASTE
- R18_ENLARGED_LYMPH_NODES
- R18_OTHER_ABNORMALITI_PLASMA_PROTEINS
- R18_OTHER_SYMPTOMS_SIGNS_INVOLVI_COGNITIVE_FUNCTIONS_AWARE
- R18_OTHER_SYMPTOMS_SIGNS_INVOLVI_GENERAL_SENSA_PERCEP
- R18_OTHER_SYMPTOMS_SIGNS_INVOLVI_URINARY_SYSTEM
- R18_RASH_OTHER_NONSPECIFIC_SKIN_ERUPT
- R18_SYMPTOMS_SIGNS_CONCERNI_FOOD_FLUID_INTAKE
- R18_SYMPTOMS_SIGNS_INVOLVI_COGNITION_PERCEP_EMOTIONAL_STATE_BEHVI
- R18_SYMPTOMS_SIGNS_INVOLVI_URINARY_SYSTEM
- R18_UNSPE_HAEMATU
- RHEUMA_OTHER_WIDE
- RX_ASTMA_BIOL
- RX_CROHN_2NDLINE
- RX_GLUCOSAMINE
- RX_L01XE
- RX_OPIOIDS
- RX_TRAMADOL
- SPONDYLOARTHRITIS
- ST19_BURNS_CORROSIO_MULTIPLE_UNSPE_BODY_REGIONS
- ST19_BURN_CORROSION_ANKLE_FOOT
- ST19_BURN_CORROSION_BODY_REGION_UNSPE
- ST19_BURN_CORROSION_HIP_LOWER_LIMB_ANKLE_FOOT
- ST19_BURN_CORROSION_OTHER_INTERNAL_ORGANS
- ST19_BURN_CORROSION_WRIST_HAND
- ST19_COMPLICATIO_PECUL_REATTACHM_AMPUT
- ST19_EFFEC_OTHER_DEPRI
- ST19_FOREI_BODY_RESPI_TRACT
- ST19_FRACT_LOWER_LEG_INCLU_ANKLE
- ST19_INJURI_ABDOMEN_LOWER_BACK_LUMBAR_SPINE_PELVIS
- ST19_INJURI_THORAX
- ST19_INJURY_BLOOD_VESSE_LOWER_LEG_LEVEL
- ST19_INJURY_NERVES_LUMBAR_SPINAL_CORD_ABDOMEN_LOWER_BACK_PELVIS_LEVEL
- ST19_INJURY_POISO_CERTA_OTHER_CONSE_EXTER_CAUSES
- ST19_OPEN_WOUND_ANKLE_FOOT
- ST19_OTHER_INJURI_LOWER_LIMB_LEVEL_UNSPE
- ST19_OTHER_UNSPE_INJURI_ANKLE_FOOT
- ST19_OTHER_UNSPE_INJURI_LOWER_LEG
- ST19_POISO_MEDICI_ADVERSE
- ST19_SEQUEL_INJURI_NECK_TRUNK
- ST19_SUPERF_INJURY_HIP_THIGH
- ST19_SUPERF_INJURY_NECK
- ST19_TRAUMAT_SUBAR_HAEMORRHAGE
- T1D_WIDE2
- T2D
- THYGROWTHS
- TRIPTAN1
- VWXY20_DIVING_JUMPI_WATER_CAUSI_INJURY_OTHER_DROWN_SUBME
- VWXY20_INTENTI_SELF_H_JUMPI_LYING_MOVING_OBJECT
- VWXY20_JAAMI_PURISTUK_TAI_MURSK_JOUTU_ESINEI_SISAAN_TAI_VALIIN
- VWXY20_LIFESTYLE__CONDI
- VWXY20_MOTOR_NONMOTOR__ACCIDENT_TYPE_VEHIC_UNSPE_NONTRAF_ACCIDENT
- VWXY20_OCCUPANT_HEAVY_TRANSPO_VEHIC_INJURED_OTHER_UNSPE_TRANSPO_ACCIDENTS
- VWXY20_OTHER_FACTOR_ENVIRONMENT
- VWXY20_PEDES_INJURED_COLLIS_W_OTHER_NONMOTOR_VEHIC
- VWXY20_PEDES_INJURED_COLLIS_W_PEDAL_CYCLE
- VWXY20_STERI_VAROT_PETTA_KIRURGISEN_TAI_MUUN_LAAKETIETEELLISEN_HOIDON_AIKANA
- Z21_FAMILY_HISTORY_OTH_SPECIFIC_DISORD
- Z21_NEED_IMMUNI_OTH_SINGLE_VIRAL_DISEA
- Z21_NEED_IMMUNI_SINGLE_BACTERIAL_DISEA
- Z21_OTHER_ORTHOPA_FOLLOW__CARE
- Z21_PERSONS_ENCOUNTERI_HEALTH_SERVI_CIRCUMSTANC_RELATED_REPRODUCTION
- Z21_PROBL_RELATED_CARE__DEPENDENCY
- Z21_PROCREATIVE_MANAG
- Z21_TOBAC_USE
- Z21_UPPER_ARM
LabWAS
↥Mortality – FinRegistry
↥This endpoint is excluded (different definition than used in FinnGen).
Relationships between endpoints
↥Index endpoint: Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED – Chromosomal abnormalities, not elsewhere classified
GWS hits: -
This endpoint is excluded (different definition than used in FinnGen).