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Biological: Behavioural genetics · Evolutionary psychology · Neuroanatomy · Neurochemistry · Neuroendocrinology · Neuroscience · Psychoneuroimmunology · Physiological Psychology · Psychopharmacology (Index, Outline)
Q00-Q89 - Congenital malformations and deformations[]
(Q00-Q07) nervous system[]
- (Q00) Anencephaly and similar malformations
- (Q04) Other congenital malformations of brain
- (Q040) Congenital malformations of corpus callosum
- (Q041) Arhinencephaly
- (Q042) Holoprosencephaly
- (Q043) Other reduction deformities of brain
- Agyria and Lissencephaly (EUROCAT Q04.33)
- Microgyria and Pachygyria (EUROCAT Q04.34)
- Hydranencephaly (EUROCAT Q04.35)
- (Q044) Septo-optic dysplasia
- (Q045) Megalencephaly
- (Q046) Congenital cerebral cysts
- (Q048) Other specified congenital malformations of brain
- (Q049) Congenital malformation of brain, unspecified
- (Q06) Other congenital malformations of spinal cord
- (Q060) Amyelia
- (Q061) Hypoplasia and dysplasia of spinal cord
- (Q062) Diastematomyelia
- (Q063) Other congenital cauda equina malformations
- (Q064) Hydromyelia
- (Q068) Other specified congenital malformations of spinal cord
- (Q069) Congenital malformation of spinal cord, unspecified
- (Q07) Other congenital malformations of nervous system
- (Q070) Arnold-Chiari syndrome
- (Q078) Other specified congenital malformations of nervous system
- (Q079) Congenital malformation of nervous system, unspecified
(Q10-Q18) eye, ear, face and neck[]
- (Q10) Congenital malformations of eyelid, lacrimal apparatus and orbit
- (Q100) Congenital ptosis
- (Q101) Congenital ectropion
- (Q102) Congenital entropion
- (Q103) Other congenital malformations of eyelid
- Ablepharon
- Blepharophimosis, congenital
- Coloboma of eyelid
- (Q104) Absence and agenesis of lacrimal apparatus
- (Q105) Congenital stenosis and stricture of lacrimal duct
- (Q106) Other congenital malformations of lacrimal apparatus
- (Q107) Congenital malformation of orbit
- (Q13) Congenital malformations of anterior segment of eye
- (Q130) Coloboma of iris
- (Q131) Absence of iris
- (Q132) Other congenital malformations of iris
- (Q133) Congenital corneal opacity
- (Q134) Other congenital corneal malformations
- (Q135) Blue sclera
- (Q138) Other congenital malformations of anterior segment of eye
- (Q139) Congenital malformation of anterior segment of eye, unspecified
- (Q14) Congenital malformations of posterior segment of eye
- (Q140) Congenital malformation of vitreous humour
- (Q141) Congenital malformation of retina
- (Q142) Congenital malformation of optic disc
- Coloboma of optic disc
- (Q143) Congenital malformation of choroid
- (Q148) Other congenital malformations of posterior segment of eye
- Coloboma of the fundus
- (Q149) Congenital malformation of posterior segment of eye, unspecified
- (Q18) Other congenital malformations of face and neck
- (Q180) Sinus, fistula and cyst of branchial cleft
- (Q181) Preauricular sinus and cyst
- (Q182) Other branchial cleft malformations
- Otocephaly
- (Q183) Webbing of neck
- (Q184) Macrostomia
- (Q185) Microstomia
- (Q186) Macrocheilia
- (Q187) Microcheilia
- (Q188) Other specified congenital malformations of face and neck
- (Q189) Congenital malformation of face and neck, unspecified
(Q20-Q28) circulatory system[]
- (Q20) Congenital malformations of cardiac chambers and connections
- (Q200) Common arterial trunk
- Persistent truncus arteriosus
- (Q201) Double outlet right ventricle
- Taussig-Bing syndrome
- (Q202) Double outlet left ventricle
- (Q203) Discordant ventriculoarterial connection
- Dextrotransposition of aorta
- Transposition of great vessels (complete)
- (Q204) Double inlet ventricle
- (Q205) Discordant atrioventricular connection
- Corrected transposition
- (Q206) Isomerism of atrial appendages
- (Q200) Common arterial trunk
- (Q22) Congenital malformations of pulmonary and tricuspid valves
- (Q220) Pulmonary valve atresia
- (Q221) Congenital pulmonary valve stenosis
- (Q222) Congenital pulmonary valve insufficiency
- (Q223) Other congenital malformations of pulmonary valve
- (Q224) Congenital tricuspid stenosis
- Tricuspid atresia
- (Q225) Ebstein's anomaly
- (Q226) Hypoplastic right heart syndrome
- (Q228) Other congenital malformations of tricuspid valve
- (Q229) Congenital malformation of tricuspid valve, unspecified
- (Q23) Congenital malformations of aortic and mitral valves
- (Q230) Congenital stenosis of aortic valve
- (Q231) Congenital insufficiency of aortic valve
- (Q232) Congenital mitral stenosis
- (Q233) Congenital mitral insufficiency
- (Q234) Hypoplastic left heart syndrome
- (Q238) Other congenital malformations of aortic and mitral valves
- (Q239) Congenital malformation of aortic and mitral valves, unspecified
- (Q24) Other congenital malformations of heart
- (Q240) Dextrocardia
- (Q241) Laevocardia
- (Q242) Cor triatriatum
- (Q243) Pulmonary infundibular stenosis
- (Q244) Congenital subaortic stenosis
- (Q245) Malformation of coronary vessels
- (Q246) Congenital heart block
- (Q248) Other specified congenital malformations of heart
- (Q249) Congenital malformation of heart, unspecified
- (Q25) Congenital malformations of great arteries
- (Q250) Patent ductus arteriosus
- (Q251) Coarctation of aorta
- (Q252) Atresia of aorta
- (Q253) Stenosis of aorta
- (Q254) Other congenital malformations of aorta
- Overriding aorta (EUROCAT Q25.42)
- Aneurysm of sinus of Valsalva (ruptured) (EUROCAT Q25.43)
- Double aortic arch (vascular ring of aorta)
- (Q255) Atresia of pulmonary artery
- (Q256) Stenosis of pulmonary artery
- (Q257) Other congenital malformations of pulmonary artery
- (Q26) Congenital malformations of great veins
- (Q260) Congenital stenosis of vena cava
- (Q261) Persistent left superior vena cava
- (Q262) Total anomalous pulmonary venous connection
- (Q263) Partial anomalous pulmonary venous connection
- (Q264) Anomalous pulmonary venous connection, unspecified
- (Q265) Anomalous portal venous connection
- (Q266) Portal vein-hepatic artery fistula
- (Q268) Other congenital malformations of great veins
- Scimitar syndrome
- (Q269) Congenital malformation of great vein, unspecified
- (Q27) Other congenital malformations of peripheral vascular system
- (Q270) Congenital absence and hypoplasia of umbilical artery
- (Q271) Congenital renal artery stenosis
- (Q272) Other congenital malformations of renal artery
- (Q273) Peripheral arteriovenous malformation
- (Q274) Congenital phlebectasia
- (Q278) Other specified congenital malformations of peripheral vascular system
- (Q279) Congenital malformation of peripheral vascular system, unspecified
- (Q28) Other congenital malformations of circulatory system
- (Q280) Arteriovenous malformation of precerebral vessels
- (Q281) Other malformations of precerebral vessels
- (Q282) Arteriovenous malformation of cerebral vessels
- (Q283) Other malformations of cerebral vessels
- (Q288) Other specified congenital malformations of circulatory system
- (Q289) Congenital malformation of circulatory system, unspecified
(Q30-Q34) respiratory system[]
- (Q32) Congenital malformations of trachea and bronchus
- (Q320) Congenital tracheomalacia
- (Q321) Other congenital malformations of trachea
- (Q322) Congenital bronchomalacia
- (Q323) Congenital stenosis of bronchus
- (Q324) Other congenital malformations of bronchus
- (Q33) Congenital malformations of lung
- (Q330) Congenital cystic lung
- (Q331) Accessory lobe of lung
- (Q332) Sequestration of lung
- (Q333) Agenesis of lung
- (Q334) Congenital bronchiectasis
- (Q335) Ectopic tissue in lung
- (Q336) Hypoplasia and dysplasia of lung
- (Q338) Other congenital malformations of lung
- (Q339) Congenital malformation of lung, unspecified
- (Q34) Other congenital malformations of respiratory system
- (Q340) Anomaly of pleura
- (Q341) Congenital cyst of mediastinum
- (Q348) Other specified congenital malformations of respiratory system
- (Q349) Congenital malformation of respiratory system, unspecified
(Q35-Q45) digestive system[]
- (Q37) Cleft palate with cleft lip
- (Q38) Other congenital malformations of tongue, mouth and pharynx
- (Q380) Congenital malformations of lips, not elsewhere classified
- Van der Woude's syndrome
- (Q381) Ankyloglossia
- (Q382) Macroglossia
- (Q383) Other congenital malformations of tongue
- (Q384) Congenital malformations of salivary glands and ducts
- (Q385) Congenital malformations of palate, not elsewhere classified
- (Q386) Other congenital malformations of mouth
- (Q387) Pharyngeal pouch
- (Q380) Congenital malformations of lips, not elsewhere classified
- (Q39) Congenital malformations of oesophagus
- (Q390) Atresia of oesophagus without fistula
- (Q391) Atresia of oesophagus with tracheo-oesophageal fistula
- (Q392) Congenital tracheo-oesophageal fistula without atresia
- (Q393) Congenital stenosis and stricture of oesophagus
- (Q394) Oesophageal web
- (Q395) Congenital dilatation of oesophagus
- (Q396) Diverticulum of oesophagus
- (Q398) Other congenital malformations of oesophagus
- (Q399) Congenital malformation of oesophagus, unspecified
- (Q41) Congenital absence, atresia and stenosis of small intestine
- (Q410) Congenital absence, atresia and stenosis of duodenum
- (Q411) Congenital absence, atresia and stenosis of jejunum
- (Q412) Congenital absence, atresia and stenosis of ileum
- (Q418) Congenital absence, atresia and stenosis of other specified parts of small intestine
- (Q419) Congenital absence, atresia and stenosis of small intestine, part unspecified
- (Q42) Congenital absence, atresia and stenosis of large intestine
- (Q420) Congenital absence, atresia and stenosis of rectum with fistula
- (Q421) Congenital absence, atresia and stenosis of rectum without fistula
- Imperforate rectum
- (Q422) Congenital absence, atresia and stenosis of anus with fistula
- (Q423) Congenital absence, atresia and stenosis of anus without fistula
- Imperforate anus
- (Q428) Congenital absence, atresia and stenosis of other parts of large intestine
- (Q429) Congenital absence, atresia and stenosis of large intestine, part unspecified
- (Q43) Other congenital malformations of intestine
- (Q430) Meckel's diverticulum
- (Q431) Hirschsprung's disease
- (Q432) Other congenital functional disorders of colon
- (Q433) Congenital malformations of intestinal fixation
- Malrotation of colon
- (Q434) Duplication of intestine
- (Q435) Ectopic anus
- (Q436) Congenital fistula of rectum and anus
- (Q437) Persistent cloaca
- (Q438) Other specified congenital malformations of intestine
- (Q44) Congenital malformations of gallbladder, bile ducts and liver
- (Q440) Agenesis, aplasia and hypoplasia of gallbladder
- (Q441) Other congenital malformations of gallbladder
- (Q442) Atresia of bile ducts
- (Q443) Congenital stenosis and stricture of bile ducts
- (Q444) Choledochal cyst
- (Q445) Other congenital malformations of bile ducts
- (Q446) Cystic disease of liver
- (Q447) Other congenital malformations of liver
- Accessory liver
- Alagille's syndrome
- (Q45) Other congenital malformations of digestive system
- (Q450) Agenesis, aplasia and hypoplasia of pancreas
- (Q451) Annular pancreas
- (Q452) Congenital pancreatic cyst
- (Q453) Other congenital malformations of pancreas and pancreatic duct
- Accessory pancreas
- (Q458) Other specified congenital malformations of digestive system
- (Q459) Congenital malformation of digestive system, unspecified]]
(Q50-Q56) genital organs[]
- (Q50) Congenital malformations of ovaries, fallopian tubes and broad ligaments
- (Q51) Congenital malformations of uterus and cervix
- (Q510) Agenesis and aplasia of uterus
- (Q511) Doubling of uterus with doubling of cervix and vagina
- (Q512) Other doubling of uterus
- (Q513) Bicornate uterus
- (Q514) Unicornate uterus
- (Q515) Agenesis and aplasia of cervix
- (Q516) Embryonic cyst of cervix
- (Q517) Congenital fistulae between uterus and digestive and urinary tracts
- (Q518) Other congenital malformations of uterus and cervix
- (Q519) Congenital malformation of uterus and cervix, unspecified
- (Q52) Other congenital malformations of female genitalia
- (Q520) Congenital absence of vagina
- (Q521) Doubling of vagina
- (Q522) Congenital rectovaginal fistula
- (Q523) Imperforate hymen
- (Q524) Other congenital malformations of vagina
- (Q525) Fusion of labia
- (Q526) Congenital malformation of clitoris
- (Q527) Other congenital malformations of vulva
- (Q528) Other specified congenital malformations of female genitalia
- (Q529) Congenital malformation of female genitalia, unspecified
- (Q55) Other congenital malformations of male genital organs
- (Q550) Absence and aplasia of testis
- Monorchism
- (Q551) Hypoplasia of testis and scrotum
- (Q552) Other congenital malformations of testis and scrotum
- (Q553) Atresia of vas deferens
- (Q554) Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate
- (Q555) Congenital absence and aplasia of penis
- (Q556) Other congenital malformations of penis
- (Q558) Other specified congenital malformations of male genital organs
- (Q559) Congenital malformation of male genital organ, unspecified
- (Q550) Absence and aplasia of testis
- (Q56) Indeterminate sex and pseudohermaphroditism
(Q60-Q64) urinary system[]
- (Q61) Cystic kidney disease
- (Q610) Congenital single renal cyst
- (Q611) Polycystic kidney, autosomal recessive
- (Q612) Polycystic kidney, autosomal dominant
- (Q613) Polycystic kidney, unspecified
- (Q614) Renal dysplasia
- (Q615) Medullary cystic kidney
- (Q618) Other cystic kidney diseases
- (Q619) Cystic kidney disease, unspecified
- Meckel-Gruber syndrome
- (Q62) Congenital obstructive defects of renal pelvis and congenital malformations of ureter
- (Q620) Congenital hydronephrosis
- (Q621) Atresia and stenosis of ureter
- (Q622) Congenital megaloureter
- (Q623) Other obstructive defects of renal pelvis and ureter
- (Q624) Agenesis of ureter
- (Q625) Duplication of ureter
- (Q626) Malposition of ureter
- (Q627) Congenital vesico-uretero-renal reflux
- (Q628) Other congenital malformations of ureter
- (Q64) Other congenital malformations of urinary system
- (Q640) Epispadias
- (Q641) Exstrophy of urinary bladder
- (Q642) Congenital posterior urethral valves
- (Q643) Other atresia and stenosis of urethra and bladder neck
- (Q644) Malformation of urachus
- Cyst of urachus
- Patent urachus
- Prolapse of urachus
- (Q645) Congenital absence of bladder and urethra
- (Q646) Congenital diverticulum of bladder
- (Q647) Other congenital malformations of bladder and urethra
- (Q648) Other specified congenital malformations of urinary system
- (Q649) Congenital malformation of urinary system, unspecified
(Q65-Q79) musculoskeletal system[]
- (Q65) Congenital deformities of hip
- (Q650) Congenital dislocation of hip, unilateral
- (Q651) Congenital dislocation of hip, bilateral
- (Q652) Congenital dislocation of hip, unspecified
- (Q653) Congenital subluxation of hip, unilateral
- (Q654) Congenital subluxation of hip, bilateral
- (Q655) Congenital subluxation of hip, unspecified
- (Q656) Unstable hip
- (Q658) Other congenital deformities of hip
- (Q659) Congenital deformity of hip, unspecified
- (Q66) Congenital deformities of feet
- (Q660) Talipes equinovarus
- (Q661) Talipes calcaneovarus
- (Q662) Metatarsus varus
- (Q663) Other congenital varus deformities of feet
- (Q664) Talipes calcaneovalgus
- (Q665) Congenital pes planus
- (Q666) Other congenital valgus deformities of feet
- (Q667) Pes cavus
- (Q668) Other congenital deformities of feet
- (Q669) Congenital deformity of feet, unspecified
- (Q68) Other congenital musculoskeletal deformities
- (Q680) Congenital deformity of sternocleidomastoid muscle
- (Q681) Congenital deformity of hand
- (Q682) Congenital deformity of knee
- (Q683) Congenital bowing of femur
- (Q684) Congenital bowing of tibia and fibula
- (Q685) Congenital bowing of long bones of leg, unspecified
- (Q688) Other specified congenital musculoskeletal deformities
- (Q71) Reduction defects of upper limb
- (Q710) Congenital complete absence of upper limb(s)
- (Q711) Congenital absence of upper arm and forearm with hand present
- (Q712) Congenital absence of both forearm and hand
- (Q713) Congenital absence of hand and finger(s)
- (Q714) Longitudinal reduction defect of radius
- (Q715) Longitudinal reduction defect of ulna
- (Q716) Lobster-claw hand
- (Q718) Other reduction defects of upper limb(s)
- (Q719) Reduction defect of upper limb, unspecified
- (Q72) Reduction defects of lower limb
- (Q720) Congenital complete absence of lower limb(s)
- (Q721) Congenital absence of thigh and lower leg with foot present
- (Q722) Congenital absence of both lower leg and foot
- (Q723) Congenital absence of foot and toe(s)
- (Q724) Longitudinal reduction defect of femur
- (Q725) Longitudinal reduction defect of tibia
- (Q726) Longitudinal reduction defect of fibula
- (Q727) Split foot
- (Q728) Other reduction defects of lower limb(s)
- (Q729) Reduction defect of lower limb, unspecified
- (Q74) Other congenital malformations of limb(s)
- (Q740) Other congenital malformations of upper limb(s), including shoulder girdle
- Accessory carpal bones
- Cleidocranial dysostosis
- Congenital pseudarthrosis of clavicle
- Macrodactylia (fingers)
- Madelung's deformity
- Radioulnar synostosis
- Sprengel's deformity
- Triphalangeal thumb
- (Q741) Congenital malformation of knee
- genu valgum
- genu varum
- (Q742) Other congenital malformations of lower limb(s), including pelvic girdle
- (Q743) Arthrogryposis multiplex congenita
- (Q748) Other specified congenital malformations of limb(s)
- (Q749) Unspecified congenital malformation of limb(s)
- (Q740) Other congenital malformations of upper limb(s), including shoulder girdle
- (Q75) Other congenital malformations of skull and face bones
- (Q750) Craniosynostosis
- (Q751) Craniofacial dysostosis
- (Q752) Hypertelorism
- (Q753) Macrocephaly
- (Q754) Mandibulofacial dysostosis
- Franceschetti syndrome
- Treacher-Collins syndrome
- (Q755) Oculomandibular dysostosis
- (Q758) Other specified congenital malformations of skull and face bones
- Absence of skull bone, congenital
- Congenital deformity of forehead
- Platybasia
- (Q759) Congenital malformation of skull and face bones, unspecified
- (Q76) Congenital malformations of spine and bony thorax
- (Q760) Spina bifida occulta
- (Q761) Klippel-Feil syndrome
- (Q762) Congenital spondylolisthesis
- (Q763) Congenital scoliosis due to congenital bony malformation
- (Q764) Other congenital malformations of spine, not associated with scoliosis
- (Q765) Cervical rib
- (Q766) Other congenital malformations of ribs
- (Q767) Congenital malformation of sternum
- Congenital absence of sternum
- Sternum bifidum
- (Q768) Other congenital malformations of bony thorax
- (Q769) Congenital malformation of bony thorax, unspecified
- (Q77) Osteochondrodysplasia with defects of growth of tubular bones and spine
- (Q770) Achondrogenesis
- Hypochondrogenesis
- (Q771) Thanatophoric short stature
- (Q772) Short rib syndrome
- Asphyxiating thoracic dysplasia (Jeune)
- (Q773) Chondrodysplasia punctata
- (Q774) Achondroplasia
- Hypochondroplasia
- Osteosclerosis congenita
- (Q775) Dystrophic dysplasia
- (Q776) Chondroectodermal dysplasia
- Ellis-van Creveld syndrome
- (Q777) Spondyloepiphyseal dysplasia
- (Q778) Other osteochondrodysplasia with defects of growth of tubular bones and spine
- (Q779) Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
- (Q770) Achondrogenesis
- (Q78) Other osteochondrodysplasias
- (Q780) Osteogenesis imperfecta
- Fragilitas ossium
- Osteopsathyrosis
- (Q781) Polyostotic fibrous dysplasia
- Albright(-McCune)(-Sternberg) syndrome
- (Q782) Osteopetrosis
- Albers-Schönberg syndrome
- (Q783) Progressive diaphyseal dysplasia
- Camurati-Engelmann syndrome
- (Q784) Enchondromatosis
- Maffucci's syndrome
- Ollier's disease
- (Q785) Metaphyseal dysplasia
- Pyle's syndrome
- (Q786) Multiple congenital exostoses
- Diaphyseal aclasis
- (Q788) Other specified osteochondrodysplasias
- Osteopoikilosis
- (Q789) Osteochondrodysplasia, unspecified
- Chondrodystrophy NOS
- Osteodystrophy NOS
- (Q780) Osteogenesis imperfecta
- (Q79) Congenital malformations of the musculoskeletal system, not elsewhere classified
- (Q790) Congenital diaphragmatic hernia
- (Q791) Other congenital malformations of diaphragm
- (Q792) Exomphalos
- Omphalocele
- (Q793) Gastroschisis
- (Q794) Prune belly syndrome
- (Q795) Other congenital malformations of abdominal wall
- (Q796) Ehlers-Danlos syndrome
- (Q798) Other congenital malformations of musculoskeletal system
- Accessory muscle
- Amyotrophia congenita
- Poland's syndrome
- (Q799) Congenital malformation of musculoskeletal system, unspecified
(Q80-Q89) Other[]
- (Q82) Other congenital malformations of skin
- (Q820) Hereditary lymphoedema
- (Q821) Xeroderma pigmentosum
- (Q822) Mastocytosis
- Urticaria pigmentosa
- (Q823) Incontinentia pigmenti
- (Q824) Ectodermal dysplasia (anhidrotic)
- (Q825) Congenital non-neoplastic naevus
- Birthmark NOS
- naevus flammeus / Port-wine stain
- sanguineous naevus
- strawberry naevus
- vascular naevus NOS
- verrucous naevus
- (Q828) Other specified congenital malformations of skin
- Abnormal palmar creases
- Accessory skin tags
- Benign familial pemphigus (Hailey-Hailey)
- Cutis laxa (hyperelastica)
- Dermatoglyphic anomalies
- Inherited keratosis palmaris et plantaris
- Keratosis follicularis (Darier-White) (ILDS Q82.868)
- (Q829) Congenital malformation of skin, unspecified
- (Q84) Other congenital malformations of integument
- (Q840) Congenital alopecia
- (Q841) Congenital morphological disturbances of hair, not elsewhere classified
- Beaded hair
- Monilethrix
- Pili annulati
- Trichothiodystrophy (ILDS Q84.169)
- (Q85) Phakomatoses, not elsewhere classified
- (Q850) Neurofibromatosis (nonmalignant)
- Von Recklinghausen's disease (ILDS Q85.010)
- Neurofibromatosis II (ILDS Q85.020)
- Neurofibromatosis, segmental (ILDS Q85.030)
- (Q851) Tuberous sclerosis
- Bourneville's disease
- (Q858) Other phakomatoses, not elsewhere classified
- Sturge-Weber syndrome (EUROCAT Q85.81)
- von Hippel-Lindau disease (EUROCAT Q85.82)
- (Q859) Phakomatosis, unspecified
- Hamartosis NOS
- (Q850) Neurofibromatosis (nonmalignant)
- (Q86) Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
- (Q860) Fetal alcohol syndrome (dysmorphic)
- (Q87) Other specified congenital malformation syndromes affecting multiple systems
- (Q870) Congenital malformation syndromes predominantly affecting facial appearance
- Acrocephalopolysyndactyly
- Acrocephalosyndactyly (Apert)
- Cryptophthalmos syndrome
- Cyclopia
- Goldenhar syndrome
- Moebius syndrome
- oro-facial-digital syndrome
- Robin syndrome
- Whistling face
- (Q870) Congenital malformation syndromes predominantly affecting facial appearance
- (Q871) Congenital malformation syndromes predominantly associated with short stature
- Aarskog syndrome
- Cockayne syndrome (ILDS Q87.110)
- De Lange syndrome (ILDS Q87.170)
- Dubowitz syndrome
- Noonan syndrome
- Prader-Willi syndrome
- Robinow-Silverman-Smith syndrome
- Silver-Russell syndrome (ILDS Q87.114)
- Seckel syndrome
- Smith-Lemli-Opitz syndrome
- Sjögren-Larsson syndrome (ILDS Q87.136)
- (Q872) Congenital malformation syndromes predominantly involving limbs
- Holt-Oram syndrome
- Klippel-Trénaunay-Weber (EUROCAT Q87.21, ILDS Q87.210)
- Nail-patella syndrome (ILDS Q87.230)
- Rubinstein-Taybi syndrome (EUROCAT Q87.23)
- sirenomelia
- thrombocytopenia with absent radius syndrome
- VATER syndrome
- (Q873) Congenital malformation syndromes involving early overgrowth
- Beckwith-Wiedemann syndrome
- Sotos syndrome
- Weaver syndrome
- (Q874) Marfan's syndrome
- (Q875) Other congenital malformation syndromes with other skeletal changes
- (Q878) Other specified congenital malformation syndromes, not elsewhere classified
- Alport syndrome (EUROCAT Q87.80)
- Bardet-Biedl syndrome (EUROCAT Q87.81)
- Zellweger's syndrome (EUROCAT Q87.83)
- William's syndrome (EUROCAT Q87.84)
- Angelman's syndrome (Happy puppet syndrome) (EUROCAT Q87.85)
- (Q871) Congenital malformation syndromes predominantly associated with short stature
- (Q89) Other congenital malformations, not elsewhere classified
- (Q890) Congenital malformations of spleen
- Asplenia (congenital)
- Congenital splenomegaly
- (Q891) Congenital malformations of adrenal gland
- (Q892) Congenital malformations of other endocrine glands
- Congenital malformation of parathyroid or thyroid gland
- Persistent thyroglossal duct
- Thyroglossal cyst
- (Q893) Situs inversus
- (Q894) Conjoined twins
- (Q897) Multiple congenital malformations, not elsewhere classified
- (Q898) Other specified congenital malformations
- (Q899) Congenital malformation, unspecified
- (Q890) Congenital malformations of spleen
Q90-Q99 - Chromosomal abnormalities, not elsewhere classified[]
- (Q90) Down's syndrome
- (Q900) Trisomy 21, meiotic nondisjunction
- (Q901) Trisomy 21, mosaicism (mitotic nondisjunction)
- (Q902) Trisomy 21, translocation
- (Q909) Down's syndrome, unspecified
- (Q91) Trisomy 18 and Trisomy 13
- (Q910) Trisomy 18, meiotic nondisjunction
- (Q911) Trisomy 18, mosaicism (mitotic nondisjunction)
- (Q912) Trisomy 18, translocation
- (Q913) Edwards' syndrome, unspecified
- (Q914) Trisomy 13, meiotic nondisjunction
- (Q915) Trisomy 13, mosaicism (mitotic nondisjunction)
- (Q916) Trisomy 13, translocation
- (Q917) Patau's syndrome, unspecified
- (Q92) Other trisomies and partial trisomies of the autosomes, not elsewhere classified
- Trisomy 9
- Warkany syndrome 2
- (Q920) Whole chromosome trisomy, meiotic nondisjunction
- (Q921) Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
- (Q922) Major partial trisomy
- (Q923) Minor partial trisomy
- (Q924) Duplications seen only at prometaphase
- (Q925) Duplications with other complex rearrangements
- (Q926) Extra marker chromosomes
- (Q927) Triploidy and polyploidy
- (Q928) Other specified trisomies and partial trisomies of autosomes
- (Q929) Trisomy and partial trisomy of autosomes, unspecified
- (Q93) Monosomies and deletions from the autosomes, not elsewhere classified
- (Q930) Whole chromosome monosomy, meiotic nondisjunction
- (Q931) Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
- (Q932) Chromosome replaced with ring or dicentric
- (Q933) Deletion of short arm of chromosome 4
- Wolff-Hirschorn syndrome
- (Q934) Deletion of short arm of chromosome 5
- Cri-du-chat syndrome
- (Q935) Other deletions of part of a chromosome
- (Q936) Deletion seen only at prometaphase
- (Q937) Deletions with other complex rearrangements
- (Q938) Other deletions from the autosomes
- (Q939) Deletion from autosomes, unspecified
- (Q95) Balanced rearrangements and structural markers, not elsewhere classified
- Robertsonian and balanced reciprocal translocations and insertions
- (Q950) Balanced translocation and insertion in normal individual
- (Q951) Chromosome inversion in normal individual
- (Q952) Balanced autosomal rearrangement in abnormal individual
- (Q953) Balanced sex/autosomal rearrangement in abnormal individual
- (Q954) Individuals with marker heterochromatin
- (Q955) Individuals with autosomal fragile site
- (Q958) Other balanced rearrangements and structural markers
- (Q959) Balanced rearrangement and structural marker, unspecified
- (Q96) Turner syndrome
- (Q960) Karyotype 45,X
- (Q961) Karyotype 46,X iso (Xq)
- (Q962) Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
- (Q963) Mosaicism, 45,X/46,XX or XY
- (Q964) Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
- (Q968) Other variants of Turner's syndrome
- (Q969) Turner's syndrome, unspecified
- (Q97) Other sex chromosome abnormalities, female phenotype, not elsewhere classified
- (Q970) Karyotype 47,XXX
- (Q971) Female with more than three X chromosomes
- (Q972) Mosaicism, lines with various numbers of X chromosomes
- (Q973) Female with 46,XY karyotype
- (Q978) Other specified sex chromosome abnormalities, female phenotype
- (Q979) Sex chromosome abnormality, female phenotype, unspecified
- (Q98) Other sex chromosome abnormalities, male phenotype, not elsewhere classified
- (Q980) Klinefelter's syndrome karyotype 47,XXY
- (Q981) Klinefelter's syndrome, male with more than two X chromosomes
- (Q982) Klinefelter's syndrome, male with 46,XX karyotype
- (Q983) Other male with 46,XX karyotype
- (Q984) Klinefelter's syndrome, unspecified
- (Q985) Karyotype 47,XYY
- (Q986) Male with structurally abnormal sex chromosome
- (Q987) Male with sex chromosome mosaicism
- (Q988) Other specified sex chromosome abnormalities, male phenotype
- (Q989) Sex chromosome abnormality, male phenotype, unspecified
- (Q99) Other chromosome abnormalities, not elsewhere classified
See also[]
- List of ICD-10 codes
- International Statistical Classification of Diseases and Related Health Problems
- List of ICD-9 codes 740-759: Congenital anomalies
- Congenital disorder
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Template:Phakomatoses and other congenital malformations not elsewhere classified
Chromosomal abnormalities
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| Autosomal trisomies: |
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