List of ICD-9 codes 740–759: congenital anomalies

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Contents

1 14. Congenital anomalies (740–759)
2 See also

[edit] 14. Congenital anomalies (740–759)

[edit] Nervous system

(740) Anencephalus and similar anomalies
- (740.0) Anencephalus
(741) Spina bifida
(742) Other congenital anomalies of nervous system
- (742.1) Microcephalus
- (742.3) Hydrocephalus

[edit] Eye, ear, face and neck

(743) Congenital anomalies of eye
- (743.0) Anophthalmos
  - (743.00) Clinical anophthalmos unspecified
  - (743.03) Cystic eyeball congenital
  - (743.06) Cryptophthalmos
- (743.1) Microphthalmos
- (743.2) Buphthalmos
- (743.3) Congenital cataract and lens anomalies
- (743.4) Coloboma and other anomalies of anterior segment
  - (743.45) Aniridia
- (743.5) Congenital anomalies of posterior segment
- (743.6) Congenital anomalies of eyelids, lacrimal system, and orbit
(744) Congenital anomalies of ear, face, and neck
- (744.0) Anomalies of ear causing impairment of hearing
- (744.1) Accessory auricle
- (744.2) Other specified congenital anomalies of ear
  - (744.22) Macrotia
  - (744.23) Microtia
- (744.3) Unspecified congenital anomaly of ear
- (744.4) Branchial cleft cyst or fistula; preauricular sinus
- (744.5) Webbing of neck
- (744.8) Other specified congenital anomalies of face and neck
  - (744.81) Macrocheilia
  - (744.82) Microcheilia
  - (744.83) Macrostomia
  - (744.84) Microstomia

[edit] Circulatory system

(745) Bulbus cordis anomalies and anomalies of cardiac septal closure
- (745.0) Common truncus
- (745.1) Transposition of great vessels
- (745.2) Tetralogy of fallot
- (745.3) Common ventricle
- (745.4) Ventricular septal defect
- (745.5) Atrial septal defect
- (745.6) Endocardial cushion defects
- (745.7) Cor biloculare
(746) Other congenital anomalies of heart
- (746.1) Tricuspid atresia and stenosis congenital
- (746.2) Ebstein's anomaly
- (746.3) Congenital stenosis of aortic valve
- (746.4) Congenital insufficiency of aortic valve
- (746.5) Congenital mitral stenosis
- (746.6) Congenital mitral insufficiency
- (746.7) Hypoplastic left heart syndrome
- (746.8) Other specified congenital anomalies of heart
  - (746.81) Subaortic stenosis congenital
  - (746.82) Cor triatriatum
  - (746.83) Infundibular pulmonic stenosis congenital
  - (746.84) Congenital obstructive anomalies of heart not elsewhere classified
  - (746.85) Coronary artery anomaly congenital
  - (746.86) Congenital heart block
  - (746.87) Malposition of heart and cardiac apex
  - (746.89) Other specified congenital anomalies of heart
    - Brugada syndrome
(747) Other congenital anomalies of circulatory system
- (747.1) Coarctation of aorta
  - (747.11) Interruption of aortic arch
- (747.2) Other congenital anomalies of aorta
- (747.3) Congenital anomalies of pulmonary artery
- (747.4) Congenital anomalies of great veins^{[disambiguation needed ]}
- (747.5) Absence or hypoplasia of umbilical artery
- (747.6) Arteriovenous malformation, unspec.
- (747.8) Other specified anomalies of circulatory system
- (747.9) Unspecified congenital anomaly of circulatory system

[edit] Respiratory system

(748) Congenital anomalies of respiratory system
- (748.0) Choanal atresia

[edit] Digestive system

[edit] Genital organs

(752) Congenital anomalies of genital organs
- (752.0) Congenital anomalies of ovaries
- (752.1) Congenital anomalies of fallopian tubes and broad ligaments
- (752.2) Doubling of uterus
- (752.3) Other congenital anomalies of uterus
- (752.4) Anomalies of cervix, vagina, and external female genitalia
  - (752.42) Imperforate hymen
- (752.5) Undescended testicle
- (752.6) Hypospadias and epispadias
  - (752.61) Hypospadias
  - (752.62) Epispadias
  - (752.63) Congenital chordee
  - (752.64) Micropenis
- (752.7) Indeterminate sex and pseudohermaphroditism

[edit] Urinary system

(753) Congenital anomalies of urinary system
- (753.0) Renal agenesis and dysgenesis
- (753.1) Cystic kidney disease
- (753.2) Obstructive defects of renal pelvis and ureter
- (753.3) Other specified anomalies of kidney
  - Renal ectopia
  - Horseshoe kidney
- (753.4) Other specified anomalies of ureter
  - Ectopic ureter
- (753.5) Exstrophy of urinary bladder
- (753.6) Atresia and stenosis of urethra and bladder neck
- (753.7) Anomalies of urachus
  - Urachal cyst
- (753.8) Other specified anomalies of bladder and urethra
- (753.9) Unspecified anomaly of urinary system

[edit] Musculoskeletal system

(754) Certain congenital musculoskeletal deformities
- (754.1) Torticollis, sternomastoid
- (754.3) Dislocation of hip, unilateral
- (754.5) Varus deformities of feet
  - (754.51) Talipes equinovarus
- (754.6) Valgus deformities of feet
- (754.8) Other specified nonteratogenic anomalies
  - (754.81) Pectus excavatum
(755) Other congenital anomalies of limbs
- (755.0) Polydactyly
- (755.1) Syndactyly
- (755.5) Other congenital anomalies of upper limb including shoulder girdle
  - (755.54) Madelung's deformity
  - (755.55) Acrocephalosyndactyly
    - Apert syndrome
- (755.9) Limb anomaly, unspec.
(756) Other congenital musculoskeletal anomalies
- (756.1) Anomalies of spine
- (756.2) Cervical rib
- (756.3) Other congenital anomalies of ribs and sternum
- (756.4) Chondrodystrophy
- (756.5) Osteodystrophies
  - (756.51) Osteogenesis imperfecta
- (756.6) Congenital anomalies of diaphragm
- (756.7) Congenital anomalies of abdominal wall
- (756.8) Other specified congenital anomalies of muscle tendon fascia and connective tissue

[edit] Integument

(757) Congenital anomalies of the integument
- (757.3) Other specified anomalies of skin
  - (757.32) Birthmarks
  - (757.39) Other specified congenital anomalies of skin
- (757.6) Supernumerary nipple

[edit] Chromosomal anomalies

(758) Chromosomal anomalies
- (758.0) Down syndrome
- (758.1) Patau's syndrome
- (758.2) Edward's syndrome
- (758.3) Autosomal deletion syndromes
  - (758.31) Cri du chat
  - (758.32) Velo-cardio-facial syndrome
  - (758.33) Other microdeletions
    - Miller-Dieker syndrome
    - Smith-Magenis syndrome
- (758.4) Balanced autosomal translocation in normal individual
- (758.5) Other conditions due to autosomal anomalies
- (758.6) Gonadal dysgenesis
  - Turner's syndrome
  - XO syndrome
- (758.7) Klinefelter's syndrome
- (758.8) Other conditions due to sex chromosome anomalies
- (758.9) Conditions due to anomaly of unspecified chromosome

[edit] Other

(759) Other and unspecified congenital anomalies
- (759.0) Anomalies of spleen, congenital
- (759.1) Anomalies of adrenal gland, congenital
- (759.2) Anomalies of other endocrine glands, congenital
- (759.3) Situs inversus
- (759.4) Conjoined twins
- (759.5) Tuberous sclerosis
- (759.6) Other congenital hamartoses, not elsewhere classified
  - Cowden syndrome
- (759.7) Multiple congenital anomalies, so described
- (759.8) Other specified congenital anomalies
  - (759.81) Prader-Willi syndrome
  - (759.82) Marfan syndrome
  - (759.83) Fragile X syndrome
  - (759.89) Other specified congenital anomalies
- (759.9) Congenital anomaly, unspecified

[edit] See also

Pathology: Medical conditions and ICD code

(Disease / Disorder / Illness, Syndrome / Sequence, Symptom / Sign, Injury, etc.)

(A/B, 001–139)

Infectious disease/Infection: Bacterial disease (G+, G-) · Virus disease · Parasitic disease (Protozoan infection, Helminthiasis, Ectoparasitic infestation) · Mycosis · Zoonosis

(C/D,
140–239 &
279–289)

Cancer (C00–D48, 140–239)	Tumor

Myeloid hematologic (D50–D77, 280–289)	Anemia · Coagulopathy

Lymphoid immune (D80–D89, 279)	Immunodeficiency · Immunoproliferative disorder · Hypersensitivity

Endocrine disease · Nutrition disorder · Inborn error of metabolism

Mental disorder

Nervous system disease (CNS, PNS) · Neuromuscular disease

Eye disease · Ear disease

Cardiovascular disease (Heart disease, Vascular disease)

Respiratory disease (Obstructive lung disease, Restrictive lung disease, Pneumonia)

Stomatognathic disease (Tooth disease) · Digestive disease (Esophageal, Stomach, Enteropathy, Liver, Pancreatic)

Skin disease · skin appendages (Nail disease, Hair disease, Sweat gland disease)

Musculoskeletal disorders: Myopathy · Arthropathy · Osteochondropathy (Osteopathy, Chondropathy)

Urologic disease (Nephropathy, Urinary bladder disease) · Male genital disease · Breast disease · Female genital disease

Complications of pregnancy · Obstetric labor complication · Puerperal disorder

(Q, 740–759)

Congenital disorder (Congenital abnormality)

Syndromes · Medical signs (Eponymous)

(S/T, 800–999)

Bone fracture · Joint dislocation · Sprain · Strain · Subluxation · Head injury · Chest trauma · Poisoning

Congenital malformations and deformations of nervous system (Q00–Q07, 740–742)

Neural tube defect	Anencephaly (Acephaly, Acrania, Acalvaria, Iniencephaly) · Encephalocele · Arnold–Chiari malformation

Other	Microcephaly · Congenital hydrocephalus (Dandy–Walker syndrome) other reduction deformities (Holoprosencephaly, Lissencephaly, Pachygyria, Hydranencephaly) Septo-optic dysplasia · Megalencephaly CNS cyst (Porencephaly, Schizencephaly) Polymicrogyria (Bilateral frontoparietal polymicrogyria)

Neural tube defect	Spina bifida · Rachischisis

Other	Currarino syndrome · Diastomatomyelia · Syringomyelia

anat(n/s/m/p/4/e/b/d/c/a/f/l/g)/phys/devp

noco(m/d/e/h/v/s)/cong/tumr, sysi/epon, injr

proc, drug(N1A/2AB/C/3/4/7A/B/C/D)

Congenital malformations and deformations of eyes (Q10–Q15, 743)

Eyelid	Ptosis · Ectropion · Entropion · Distichia · Blepharophimosis · Ablepharon · Marcus Gunn phenomenon

Lacrimal apparatus	Congenital lacrimal duct obstruction

Entire eye	Anophthalmia (Cystic eyeball, Cryptophthalmos) · Microphthalmia

Lens	Ectopia lentis · Aphakia

Iris	Aniridia

Anterior segment	Axenfeld syndrome

Cornea	Keratoglobus · Megalocornea

Other	Buphthalmos · Coloboma (Coloboma of optic nerve) · Hydrophthalmos · Norrie disease

anat(g/a/p)/phys/devp/prot

noco/cong/tumr, epon

proc, drug(S1A/1E/1F/1L)

Congenital malformations and deformations of ears (Q16–Q17, 744.0–744.3)

Size

Macrotia · Microtia · Anotia

Position

Other

Accessory auricle

anat(e/p)/phys/devp

noco/cong, epon

proc, drug(S2)

Congenital malformations and deformations of face and neck (Q18, 744.4–744.9)

jaw: Otocephaly

mouth: Macrostomia · Microstomia

lip: Macrocheilia · Microcheilia

chin: Microgenia

multiple/other: Hallermann-Streiff syndrome · Branchial cleft cyst

Ungrouped

Preauricular sinus and cyst

noco/cofa(c)/cogi/tumr, sysi

proc (peri), drug (A1)

Congenital heart defects (Q20–Q24, 745–746)

Cardiac shunt/
heart septal defect

Aortopulmonary septal defect	R→L: Double outlet right ventricle (Taussig–Bing syndrome) · Transposition of the great vessels (dextro, levo) · Persistent truncus arteriosus Aortopulmonary window

Atrial septal defect	L→R: Sinus venosus atrial septal defect · Lutembacher's syndrome

Ventricular septal defect	L→R and R→L: Eisenmenger's syndrome R→L, with other conditions: Tetralogy of Fallot

Atrioventricular septal defect	L→R: Ostium primum

Valvular heart disease/
heart chambers

Right	pulmonary valves (stenosis, insufficiency) · tricuspid valves (stenosis, atresia, Ebstein's anomaly) · Hypoplastic right heart syndrome (Uhl anomaly)

Left	aortic valves (stenosis, insufficiency, bicuspid) · mitral valves (stenosis, regurgitation) · Hypoplastic left heart syndrome

Other

Dextrocardia · Levocardia · Cor triatriatum · Crisscross heart · Brugada syndrome · Coronary artery anomaly · Anomalous aortic origin of a coronary artery · Ventricular inversion

noco/cong/tumr, sysi/epon, injr

proc, drug (C1A/1B/1C/1D), blte

Congenital vascular defects / Vascular malformation (Q25–Q28, 747)

Great arteries/
other arteries

Aorta	Patent ductus arteriosus · Coarctation of the aorta · Interrupted aortic arch · Overriding aorta · Aneurysm of sinus of Valsalva · Vascular ring

Pulmonary artery	Pulmonary atresia · Stenosis of pulmonary artery

Subclavian artery	Aberrant subclavian artery

Umbilical artery	Single umbilical artery

Great veins

Superior/inferior vena cava	Congenital stenosis of vena cava · Persistent left superior vena cava

Pulmonary vein	Anomalous pulmonary venous connection (Total, Partial) · Scimitar syndrome

Arteriovenous malformation

Cerebral arteriovenous malformation

anat(a:h/u/t/a/l,v:h/u/t/a/l)/phys/devp/cell/prot

noco/syva/cong/lyvd/tumr, sysi/epon, injr

proc, drug(C2s+n/3/4/5/7/8/9)

Congenital malformations and deformations of respiratory system (Q30–Q34, 748)

Nose	Choanal atresia · Arrhinia

Larynx	Laryngeal cyst · Laryngocele · Laryngomalacia

Trachea and bronchus	Tracheomalacia · Tracheal stenosis · Bronchomalacia · Tracheobronchomegaly

Lung	Bronchiectasis · Pulmonary hypoplasia · Pulmonary sequestration · Congenital cystic adenomatoid malformation

anat(n, x, l, c)/phys/devp

noco(c, p)/cong/tumr, sysi/epon, injr

proc, drug(R1/2/3/5/6/7)

Congenital malformations and deformations of digestive system (Q35–Q45, 749–751)

Tongue, mouth and pharynx	Cleft lip and palate · Van der Woude syndrome · tongue (Ankyloglossia, Macroglossia, Hypoglossia)

Esophagus	EA/TEF (Esophageal atresia: types A, B, C, and D, Tracheoesophageal fistula: types B, C, D and E) esophageal rings (Esophageal web · upper, Schatzki ring · lower)

Stomach	Pyloric stenosis · Hiatus hernia

Intestines	Intestinal atresia (Duodenal atresia) · Meckel's diverticulum · Hirschsprung's disease · Intestinal malrotation · Dolichocolon · Enteric duplication cyst

Rectum/anal canal	Imperforate anus · Persistent cloaca

Pancreas	Annular pancreas · Accessory pancreas · Johanson–Blizzard syndrome Pancreas divisum

Bile duct	Choledochal cysts (Caroli disease) · Biliary atresia

Liver	Alagille syndrome · Polycystic liver disease

noco/cofa(c)/cogi/tumr, sysi

proc (peri), drug (A1)

anat(t, g, p)/phys/devp/enzy

noco/cong/tumr, sysi/epon

proc, drug(A2A/2B/3/4/5/6/7/14/16), blte

Female congenital anomalies of the genitalia, including Intersex and DSD: (Q50–Q52 · 752.0–752.4)

Uterine malformation	Müllerian agenesis · Unicornuate uterus · Uterus didelphys · Bicornuate uterus · Uterine septum · Arcuate uterus

Vagina	Vaginal septum · Vaginal atresia

Clitoromegaly · Progestin-induced virilisation · Pseudohermaphroditism

M: ♀ FRS

noco/cong/npls, sysi/epon

proc/asst, drug (G1/G2B/G3CD)

Male congenital anomalies of the genitalia, including Intersex and DSD: (Q53–Q56 · 752.5–752.7)

Testicle	Cryptorchidism · Polyorchidism · Monorchism · Anorchia · Sertoli cell-only syndrome True hermaphroditism · Mixed gonadal dysgenesis · Swyer syndrome

Vas deferens	Congenital absence of the vas deferens

Other	Persistent Mullerian duct syndrome

Penis	Hypospadias · Chordee · Micropenis · Penile agenesis · Diphallia

Other	Pseudohermaphroditism

M: ♂ MRS

noco/cong/tumr, sysi/epon

proc, drug (G3B/4BE/4C)

Congenital malformations and deformations of urinary system (Q60–Q64, 753)

Abdominal

Kidney	Renal agenesis/Potter sequence, Papillorenal syndrome cystic (Polycystic kidney disease, Meckel syndrome, Multicystic dysplastic kidney, Medullary sponge kidney) Horseshoe kidney · Renal ectopia · Nephronophthisis Dent's disease · Alport syndrome

Ureter	Ectopic ureter · Megaureter · Duplicated ureter

Pelvic

Bladder	Bladder exstrophy

Urethra	Epispadias · Hypospadias · Posterior urethral valves

Vestigial

Urachus	Urachal cyst

anat/phys/devp/cell

noco/acba/cong/tumr, sysi/epon, urte

proc/itvp, drug (G4B), blte, urte

Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65–Q76, 754–756.3)

Appendicular
limb / dysmelia

clavicle / shoulder:	Cleidocranial dysostosis · Sprengel's deformity · Wallis Zieff Goldblatt syndrome

hand deformity:	Madelung's deformity · Clinodactyly · Oligodactyly · Polydactyly

hip:	Dislocation of hip / Hip dysplasia · Upington disease · Coxa valga · Coxa vara

knee:	Genu valgum · Genu varum · Genu recurvatum · Discoid meniscus · Congenital patellar dislocation · Congenital knee dislocation

foot deformity:	varus (Club foot / Pigeon toe) · valgus (Flat feet) · Pes cavus · Rocker bottom foot · Hammer toe

Either / both

dactyly / digit:	Polydactyly / Syndactyly (webbed toes) · Arachnodactyly · Cenani Lenz syndactylism · Ectrodactyly · Brachydactyly (Clubbed thumb)

reduction deficits / limb:	Acheiropodia · ectromelia (Phocomelia · Amelia · Hemimelia)

multiple joints:	Arthrogryposis · Larsen syndrome · Rapadilino syndrome

Craniosynostosis:	Scaphocephaly · Oxycephaly · Trigonocephaly

Craniofacial dysostosis:	Crouzon syndrome · Hypertelorism · Hallermann-Streiff syndrome · Treacher-Collins syndrome

other:	Macrocephaly · Platybasia · Craniodiaphyseal dysplasia · Dolichocephaly · Greig cephalopolysyndactyly syndrome · Plagiocephaly · Saddle nose

Vertebral column

spinal curvature (Scoliosis) · Klippel-Feil syndrome · Spondylolisthesis · Spina bifida occulta · Sacralization

Thoracic skeleton

ribs:	Cervical · Bifid

sternum:	Pectus excavatum · Pectus carinatum

anat(h/c, u, t, l)/phys

noco(arth/defr/back/soft)/cong, sysi/epon, injr

proc, drug(M01C, M4)

Osteochondrodysplasia (Q77–Q78, 756.4–756.5)

Osteodysplasia/
osteodystrophy

Diaphysis	Camurati-Engelmann disease

Metaphysis	Metaphyseal dysplasia · Jansen's metaphyseal chondrodysplasia · Schmid metaphyseal chondrodysplasia

Epiphysis	Spondyloepiphyseal dysplasia congenita · Multiple epiphyseal dysplasia · Otospondylomegaepiphyseal dysplasia

Osteosclerosis	Raine syndrome · Osteopoikilosis · Osteopetrosis

Other/ungrouped	FLNB (Boomerang dysplasia) · Opsismodysplasia · Polyostotic fibrous dysplasia (McCune-Albright syndrome)

Chondrodysplasia/
chondrodystrophy
(including dwarfism)

Osteochondroma	osteochondromatosis (Hereditary multiple exostoses)

Chondroma/enchondroma	enchondromatosis (Ollier disease, Maffucci syndrome)

Growth factor receptor	FGFR2: Antley-Bixler syndrome FGFR3: Achondroplasia (Hypochondroplasia) · Thanatophoric dysplasia

COL2A1 collagen disease	Achondrogenesis (type 2) · Hypochondrogenesis

SLC26A2 sulfation defect	Achondrogenesis (type 1B) · Recessive multiple epiphyseal dysplasia · Atelosteogenesis, type II · Diastrophic dysplasia

Chondrodysplasia punctata	Rhizomelic chondrodysplasia punctata · Conradi-Hünermann syndrome

Other dwarfism	Fibrochondrogenesis · Short rib-polydactyly syndrome (Majewski's polydactyly syndrome) · Léri-Weill dyschondrosteosis

anat(c/f/k/f, u, t/p, l)/phys/devp/cell

noco/cong/tumr, sysi/epon, injr

proc, drug(M5)

Congenital diaphragm and abdominal wall defects, abdominopelvic cavity (Q79.0–Q79.5, 756.6–756.7)

Thoracic diaphragm

Hernia: Congenital diaphragmatic hernia (Bochdalek hernia)

Omphalocele · Gastroschisis · Prune belly syndrome

M: MUS, DF+DRCT

anat (h/n, u, t/d, a/p, l)/phys/devp/hist

noco(m, s, c)/cong(d)/tumr, sysi/epon, injr

proc, drug (M1A/3)

Congenital malformations and deformations of integument / skin disease (Q80–Q82, 757.0–757.3)

Congenital ichthyosis/
erythrokeratodermia

AD	Ichthyosis vulgaris

AR	Congenital ichthyosiform erythroderma: Epidermolytic hyperkeratosis · Lamellar ichthyosis (Harlequin type ichthyosis) Netherton syndrome · Zunich–Kaye syndrome · Sjögren–Larsson syndrome

XR	X-linked ichthyosis

Ungrouped	Ichthyosis bullosa of Siemens · Ichthyosis follicularis · Ichthyosis prematurity syndrome · Ichthyosis–sclerosing cholangitis syndrome · Nonbullous congenital ichthyosiform erythroderma · Ichthyosis linearis circumflexa · Ichthyosis hystrix

EB
and related

EBS (EBS-K, EBS-WC, EBS-DM, EBS-OG, EBS-MD, EBS-MP)

JEB (JEB-H, Mitis, Generalized atrophic, JEB-PA)

DEB (DDEB, RDEB)

related: Costello syndrome · Kindler syndrome · Laryngoonychocutaneous syndrome · Skin fragility syndrome ·

Ectodermal dysplasia

Naegeli syndrome/Dermatopathia pigmentosa reticularis · Hay–Wells syndrome · Hypohidrotic ectodermal dysplasia · Focal dermal hypoplasia · Ellis–van Creveld syndrome · Rapp–Hodgkin syndrome/Hay–Wells syndrome

Elastic/Connective

Ehlers–Danlos syndrome · Cutis laxa (Gerodermia osteodysplastica) · Popliteal pterygium syndrome · Pseudoxanthoma elasticum · Van Der Woude syndrome

Hyperkeratosis/
keratinopathy

PPK	diffuse: Diffuse epidermolytic palmoplantar keratoderma • Diffuse nonepidermolytic palmoplantar keratoderma • Palmoplantar keratoderma of Sybert • Mal de Meleda • syndromic (connexin (Bart–Pumphrey syndrome • Clouston's hidrotic ectodermal dysplasia • Vohwinkel syndrome) • Corneodermatoosseous syndrome • plakoglobin (Naxos syndrome) • Scleroatrophic syndrome of Huriez • Olmsted syndrome • Cathepsin C (Papillon–Lefèvre syndrome • Haim–Munk syndrome) • Camisa disease focal: Focal palmoplantar keratoderma with oral mucosal hyperkeratosis • Focal palmoplantar and gingival keratosis • Howel–Evans syndrome • Pachyonychia congenita (Pachyonychia congenita type I • Pachyonychia congenita type II) • Striate palmoplantar keratoderma • Tyrosinemia type II) punctate: Acrokeratoelastoidosis of Costa • Focal acral hyperkeratosis • Keratosis punctata palmaris et plantaris • Keratosis punctata of the palmar creases • Schöpf–Schulz–Passarge syndrome • Porokeratosis plantaris discreta • Spiny keratoderma ungrouped: Palmoplantar keratoderma and spastic paraplegia • desmoplakin (Carvajal syndrome) • connexin (Erythrokeratodermia variabilis • HID/KID)

Other	Meleda disease · Keratosis pilaris · ATP2A2 (Darier's disease) · Dyskeratosis congenita · Lelis syndrome Dyskeratosis congenita · Keratolytic winter erythema · Keratosis follicularis spinulosa decalvans · Keratosis linearis with ichthyosis congenital and sclerosing keratoderma syndrome · Keratosis pilaris atrophicans faciei · Keratosis pilaris

Other

cadherin (EEM syndrome) · immune system (Hereditary lymphedema, Mastocytosis/Urticaria pigmentosa) · Hailey–Hailey

see also Template:Congenital malformations and deformations of skin appendages, Template:Phakomatoses, Template:Pigmentation disorders, Template:DNA replication and repair-deficiency disorder

Developmental
anomalies

Midline	Dermoid cyst · Encephalocele · Nasal glioma · PHACE association · Sinus pericranii

Nevus	Capillary hemangioma · Port-wine stain (Nevus flammeus nuchae)

Other/ungrouped	Aplasia cutis congenita · Amniotic band syndrome · Branchial cyst · Cavernous venous malformation Accessory nail of the fifth toe · Bronchogenic cyst · Congenital cartilaginous rest of the neck · Congenital hypertrophy of the lateral fold of the hallux · Congenital lip pit · Congenital malformations of the dermatoglyphs · Congenital preauricular fistula · Congenital smooth muscle hamartoma · Cystic lymphatic malformation · Median raphe cyst · Melanotic neuroectodermal tumor of infancy · Mongolian spot · Nasolacrimal duct cyst · Omphalomesenteric duct cyst · Poland anomaly · Rapidly involuting congenital hemangioma · Rosenthal–Kloepfer syndrome · Skin dimple · Superficial lymphatic malformation · Thyroglossal duct cyst · Verrucous vascular malformation · Birthmark

M: INT, SF, LCT

noco(i/b/d/q/u/r/p/m/k/v/f)/cong/tumr(n/e/d), sysi/epon

proc, drug (D2/3/4/5/8/11)

Congenital malformations and deformations of skin appendages (Q84, 757.4–757.5)

Anonychia · Leukonychia · Pachyonychia congenita/Onychauxis · Koilonychia

hypotrichosis/abnormalities: keratin disease (Monilethrix) · IBIDS syndrome · Sabinas brittle hair syndrome · Pili annulati · Pili torti · Uncombable hair syndrome · Björnstad syndrome · Giant axonal neuropathy with curly hair

hypertrichosis: Zimmermann–Laband syndrome

noco/cong/tumr, sysi/epon

proc, drug(D10)

Congenital malformations and deformations of the breast (Q83, 757.6)

Breast

Amastia · Polymastia · Micromastia · Symmastia

Nipple

Athelia · Polythelia

Pathology: chromosome abnormalities (Q90–Q99 · 758)

Trisomies	Down syndrome (21) · Edwards syndrome (18) · Patau syndrome (13) Trisomy 9 · Trisomy 8/Warkany syndrome 2 (8) · Trisomy 22/Cat eye syndrome (22) · Trisomy 16

Monosomies/deletions	1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome (1) · Wolf-Hirschhorn syndrome (4) · Cri du chat/Chromosome 5q deletion syndrome (5) · Williams syndrome (7) · Jacobsen syndrome (11) · Miller–Dieker syndrome/Smith–Magenis syndrome (17) · DiGeorge syndrome (22) · 22q13 deletion syndrome (22) genomic imprinting (Angelman syndrome/Prader–Willi syndrome (15)) Distal 18q-/Proximal 18q-

X/Y linked

Monosomy	Turner syndrome (XO)

Trisomy/tetrasomy, other karyotypes/mosaics	Klinefelter's syndrome (47,XXY) · 48,XXYY · 48,XXXY · 49,XXXYY · 49,XXXXY Triple X syndrome (47,XXX) · 48,XXXX · 49,XXXXX 47,XYY · 48,XYYY · 49,XYYYY 46,XX/XY

Leukemia/lymphoma

Lymphoid	Burkitt's lymphoma t(8 MYC;14 IGH) · Follicular lymphoma t(14 IGH;18 BCL2) · Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH) · Anaplastic large cell lymphoma t(2 ALK;5 NPM1) · Acute lymphoblastic leukemia

Myeloid	Philadelphia chromosome t(9 ABL; 22 BCR) · Acute myeloblastic leukemia with maturation t(8 RUNX1T1;21 RUNX1) · Acute promyelocytic leukemia t(15 PML,17 RARA) · Acute megakaryoblastic leukemia t(1 RBM15;22 MKL1)

Other

Ewing's sarcoma t(11 FLI1; 22 EWS) · Synovial sarcoma t(x SYT;18 SSX) · Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB) · Myxoid liposarcoma t(12 DDIT3; 16 FUS) · Desmoplastic small round cell tumor t(11 WT1; 22 EWS) · Alveolar rhabdomyosarcoma t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1)

Other

Fragile X syndrome · Uniparental disomy · XX male syndrome

Lymphatic disease: Congenital lymphatic organ disorders (Q89.0/Q89.2, 759.0/759.2)

Thymic hypoplasia (DiGeorge syndrome) · Ectopic thymus

Congenital asplenia/hyposplenism (Asplenia with cardiovascular anomalies) · Accessory spleen · Polysplenia

anat(h, u, t, a, l)/phys/devp

Congenital endocrine disease (Q89.1–Q89.2, 759.1–759.2)

see congenital digestive

Hypothalamic/
pituitary axes
+parathyroid

Pituitary	Congenital hypopituitarism

Thyroid	Persistent thyroglossal duct · Thyroglossal cyst Congenital hypothyroidism: Thyroid dysgenesis · Thyroid dyshormonogenesis (Pendred syndrome)

Parathyroid	Congenital absence of parathyroid

Adrenal	Absent adrenal gland

Gonads	see congenital reproductive

anat/phys/devp/horm

noco(d)/cong/tumr, sysi/epon

proc, drug (A10/H1/H2/H3/H5)

v d e Twin conditions (Q89.3–Q89.4, 759.3–759.4)

Zygosity	Twin Half twin

Monochorionic twins	Twin-to-twin transfusion syndrome Twin reversed arterial perfusion Monoamniotic twins

Conjoined twins	Parasitic twin (Craniopagus parasiticus, Fetus in fetu)

Other	Vanishing twin Chimerism Mixed twins

v d e Phakomatosis (Q85, 759.5–759.6)

Neurofibromatosis	Type I · Type II

Angiomatosis	Sturge–Weber syndrome · Von Hippel–Lindau disease

Hamartoma	Tuberous sclerosis · Hypothalamic hamartoma (Pallister-Hall syndrome) · Multiple hamartoma syndrome (Proteus syndrome, Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome, Lhermitte-Duclos disease)

Other	Abdallat Davis Farrage syndrome · Ataxia telangiectasia · Incontinentia pigmenti · Peutz–Jeghers syndrome

v d e Congenital abnormality · multiple abnormalities (Q87, 759.7)

Craniofacial	Acrocephalosyndactylia (Apert syndrome/Pfeiffer syndrome, Saethre-Chotzen syndrome, Carpenter syndrome, Sakati-Nyhan-Tisdale syndrome) other: Möbius syndrome · Goldenhar syndrome · Cyclopia

Short stature	1q21.1 deletion syndrome · Aarskog–Scott syndrome · Cockayne syndrome · Cornelia de Lange Syndrome · Dubowitz syndrome · Noonan syndrome · Robinow syndrome · Silver–Russell syndrome · Seckel syndrome · Smith-Lemli-Opitz syndrome-Turner syndrome

Limbs	Adducted thumb syndrome · Holt-Oram syndrome · Klippel-Trénaunay-Weber syndrome · Nail–patella syndrome · Rubinstein-Taybi syndrome Gastrulation/mesoderm: Caudal regression syndrome · ectromelia (Sirenomelia) · VACTERL association

Overgrowth	Beckwith-Wiedemann syndrome · Sotos syndrome · Weaver syndrome · Perlman syndrome

Laurence-Moon-Bardet-Biedl	Bardet–Biedl syndrome · Laurence-Moon syndrome

Combined/other, known locus	3 (Zimmerman-Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) · 12 (Keutel syndrome, Timothy syndrome) · 15 (Marfan syndrome) · 19 (Donohue syndrome)

Retrieved from "http://en.wikipedia.org/w/index.php?title=List_of_ICD-9_codes_740%E2%80%93759:_congenital_anomalies&oldid=436969758"

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