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Q00-Q89 - Congenital malformations and deformations

(Q00-Q07) nervous system

  • (Q01) Encephalocele
  • (Q02) Microcephaly
  • (Q03) Congenital hydrocephalus
    • (Q030) Malformations of aqueduct of Sylvius
    • (Q031) Atresia of foramina of Magendie and Luschka
      • Dandy-Walker syndrome
    • (Q038) Other congenital hydrocephalus
    • (Q039) Congenital hydrocephalus, unspecified

(Q10-Q18) eye, ear, face and neck

  • (Q11) Anophthalmos, microphthalmos and macrophthalmos
    • (Q110) Cystic eyeball
    • (Q111) Other anophthalmos
    • (Q112) Microphthalmos
    • (Q113) Macrophthalmos
  • (Q12) Congenital lens malformations
    • (Q120) Congenital cataract
    • (Q121) Congenital displaced lens
    • (Q122) Coloboma of lens
    • (Q123) Congenital aphakia
    • (Q124) Spherophakia
    • (Q128) Other congenital lens malformations
    • (Q129) Congenital lens malformation, unspecified
  • (Q13) Congenital malformations of anterior segment of eye
  • (Q15) Other congenital malformations of eye
    • (Q150) Congenital glaucoma
      • Buphthalmos
      • Glaucoma of newborn
      • Hydrophthalmos
      • Keratoglobus, congenital, with glaucoma
      • Macrocornea with glaucoma
      • Macrophthalmos in congenital glaucoma
      • Megalocornea with glaucoma
  • (Q16) Congenital malformations of ear causing impairment of hearing
  • (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
  • (Q21) Congenital malformations of cardiac septa
    • (Q210) Ventricular septal defect
    • (Q211) Atrial septal defect
    • (Q212) Atrioventricular septal defect
    • (Q213) Tetralogy of Fallot
    • (Q218) Other congenital malformations of cardiac septa
      • Eisenmenger's syndrome
  • (Q22) Congenital malformations of pulmonary and tricuspid valves
  • (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

(Q30-Q34) respiratory system

(Q35-Q45) digestive system

  • (Q40) Other congenital malformations of upper alimentary tract
    • (Q400) Congenital hypertrophic pyloric stenosis
    • (Q401) Congenital hiatus hernia
  • (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

(Q50-Q56) genital organs

  • (Q53) Undescended testicle
  • (Q54) Hypospadias
    • (Q540) Hypospadias, balanic
    • (Q541) Hypospadias, penile
    • (Q542) Hypospadias, penoscrotal
    • (Q543) Hypospadias, perineal
    • (Q544) Congenital chordee
    • (Q548) Other hypospadias
    • (Q549) Hypospadias, unspecified

(Q60-Q64) urinary system

  • (Q60) Renal agenesis and other reduction defects of kidney
    • (Q600) Renal agenesis, unilateral
    • (Q601) Renal agenesis, bilateral
    • (Q602) Renal agenesis, unspecified
    • (Q603) Renal hypoplasia, unilateral
    • (Q604) Renal hypoplasia, bilateral
    • (Q606) Renal hypoplasia, unspecified
    • (Q607) Potter's 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

(Q65-Q79) musculoskeletal system

  • (Q69) Polydactyly
    • (Q690) Accessory finger(s)
    • (Q691) Accessory thumb(s)
    • (Q692) Accessory toe(s)
    • (Q699) Polydactyly, unspecified
  • (Q70) Syndactyly
    • (Q700) Fused fingers
    • (Q701) Webbed fingers
    • (Q702) Fused toes
    • (Q703) Webbed toes
    • (Q704) Polysyndactyly
    • (Q709) Syndactyly, 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
  • (Q73) Reduction defects of unspecified limb
    • (Q730) Congenital absence of unspecified limb(s)
      • Amelia NOS
    • (Q731) Phocomelia, unspecified limb(s)
    • (Q738) Other reduction defects of unspecified limb(s)
  • (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)
  • (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
  • (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

(Q80-Q89) Other

  • (Q80) Congenital ichthyosis
    • (Q800) Ichthyosis vulgaris
    • (Q801) X-linked ichthyosis
    • (Q802) Lamellar ichthyosis
    • (Q803) Congenital bullous ichthyosiform erythroderma
    • (Q804) Harlequin fetus
    • (Q808) Other congenital ichthyosis
    • (Q809) Congenital ichthyosis, unspecified
  • (Q81) Epidermolysis bullosa
    • (Q810) Epidermolysis bullosa simplex
    • (Q811) Epidermolysis bullosa letalis
    • (Q812) Epidermolysis bullosa dystrophica
    • (Q818) Other epidermolysis bullosa
    • (Q819) Epidermolysis bullosa, unspecified
  • (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
  • (Q83) Congenital malformations of breast
    • (Q831) Accessory breast
    • (Q833) Accessory nipple
      • Supernumerary nipple
    • (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
    • (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)

Q90-Q99 - Chromosomal abnormalities, not elsewhere classified

  • (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

See also


|} Template:Congenital malformations and deformations of eye, ear, face and neck Template:Congenital malformations and deformations of circulatory system Template:Congenital malformations and deformations of respiratory system Template:Congenital malformations and deformations of digestive system Template:Congenital malformations of genital organs and urinary system Template:Congenital malformations and deformations of musculoskeletal system Template:Congenital malformations and deformations of integument

Template:Phakomatoses and other congenital malformations not elsewhere classified

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