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

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Contents

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

14. Congenital anomalies (740-759)

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

eye, ear, face and neck

(743) Congenital anomalies of eye
- (743.0) Anophthalmos
- (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

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
- (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

Respiratory system

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

digestive system

(749) Cleft palate
- (749.0) Cleft palate, unspec.
- (749.2) Cleft palate w/ cleft lip

(750) Other congenital anomalies of upper alimentary tract

(751) Other congenital anomalies of digestive system

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

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

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

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

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

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

See also

Pathology: Medical conditions and ICD code

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

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

(C/D,
140-239 & 280-289)

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

Congenital disorder (Congenital abnormality)

Syndromes · Medical signs (Eponymous)

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

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 · Microphthalmia
Lens	Ectopia lentis · Aphakia
Iris	Aniridia
Anterior segment	Axenfeld syndrome
Cornea	Keratoglobus · Megalocornea
Other	Buphthalmos · Coloboma · Hydrophthalmos · Norrie disease

anat(g, a, p)/phys/devp/cell

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

Position

Other

Accessory tragus

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

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
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 · Ventricular inversion

noco/cong/tumr, sysi/epon

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

Congenital vascular defects (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

noco/syva/cong/tumr, sysi/epon

proc, drug(C3,C4,C5,C9)

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

Nose	Choanal atresia
Larynx	Laryngocele · Laryngomalacia

Trachea and bronchus	Tracheomalacia · Tracheal stenosis · Bronchomalacia · Mounier-Kuhn syndrome
Lung	Bronchiectasis · Pulmonary hypoplasia · Pulmonary sequestration · Congenital cystic adenomatoid malformation

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

noco(c)/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/cell

noco/cong/tumr, sysi/epon

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

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 · Macropenis · Penile agenesis · Diphallia
Other	Pseudohermaphroditism

M: ♂ MRS

noco/cong/tumr, sysi/epon

proc, drug (G3B/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

Pelvic

Bladder	Bladder exstrophy
Urethra	Epispadias · Hypospadias · Posterior urethral valves

Vestigial

Urachus	Urachal cyst

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

proc, drug (G4B), cbbt, cbut

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

Appendicular:
Limb/
dysmelia

Upper	clavicle/shoulder: Cleidocranial dysostosis · Sprengel's deformity · Wallis Zieff Goldblatt syndrome hand deformity: Madelung's deformity · Clinodactyly · Oligodactyly · Polydactyly
Lower	hip: Dislocation of hip/Hip dysplasia · Upington disease · Coxa valga · Coxa vara knee: Genu valgum · Genu varum · Genu recurvatum 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

Craniofacial	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
Thoracic skeleton	ribs: Cervical rib · Bifid rib sternum: Pectus excavatum · Pectus carinatum

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

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

proc, drug(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) · 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

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/hist

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

proc, drug (M1A/3)

Congenital malformations and deformations of integument (Q80-Q82, 757.0-757.3)

Skin disease/
genodermatosis

Congenital ichthyosis

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

Epidermolysis bullosa

Epidermolysis bullosa simplex (Generalized, Localized, Herpetiformis, Ogna, With muscular dystrophy, With mottled pigmentation)

Junctional epidermolysis bullosa (Gravis, Mitis, Generalized atrophic, Cicatricial, With pyloric atresia)

Epidermolysis bullosa dystrophica (Dominant, Recessive)

Pigmentation disorder

Incontinentia pigmenti · Urticaria pigmentosa · Lelis syndrome

DNA repair-deficiency disorder

Bloom syndrome · Rothmund–Thomson syndrome · Xeroderma pigmentosum

Ectodermal dysplasia

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

Hyperkeratosis/keratinopathy

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

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

Other

Familial cutaneous papillomatosis · Kindler syndrome · cadherin (EEM syndrome) · immune system (Hereditary lymphedema, Mastocytosis) · Hailey–Hailey · Birthmark · Aplasia cutis congenita

Elastic/Connective

Cutis laxa (Gerodermia osteodysplastica) · Pseudoxanthoma elasticum

Ungrouped cutaneous
congenital anomalies

With OMIM

Accessory tragus · Amniotic band syndrome · Aplasia cutis congenita · Branchial cyst · Cavernous venous malformation

Without OMIM

Accessory nail of the fifth toe · Arteriovenous fistula · 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 · Dermoid cyst · Encephalocele · Infantile hemangioma · Malignant pilomatricoma · Median raphe cyst · Melanotic neuroectodermal tumor of infancy · Mongolian spot · Nasal glioma · Nasolacrimal duct cyst · Omphalomesenteric duct cyst · Pilomatricoma · Poland anomaly · PHACE association · Rapidly involuting congenital hemangioma · Rosenthal–Kloepfer syndrome · Rudimentary supernumerary digit · Sinus pericranii · Skin dimple · Superficial lymphatic malformation · Supernumerary nipple · Thyroglossal duct cyst · Verrucous vascular malformation

Ungrouped
genodermatoses

With OMIM

SLC39A4 (Acrodermatitis enteropathica) · ATP2A2 (Acrokeratosis verruciformis) · C20orf42 ( Kindler syndrome) · GNAS (Albright's hereditary osteodystrophy) · FGFR2 (Apert syndrome) · VPS33B (Arthrogryposis–renal dysfunction–cholestasis syndrome) · MRN complex ( Ataxia telangiectasia) · HR (Atrichia with papular lesions) · AIRE (Autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy syndrome)

deletion: 18q deletion syndrome · Angelman syndrome

genetics unknown: Acrogeria · Adams–Oliver syndrome · Adducted thumbs syndrome · Atrophodermia vermiculata

unsorted: Bart syndrome · Bazex–Dupré–Christol syndrome · Bloom syndrome · BIDS syndrome · Cardiofaciocutaneous syndrome · Cartilage–hair hypoplasia · Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome · Chondrodysplasia punctata · Cockayne syndrome · CHILD syndrome · Conradi–Hünermann syndrome · Costello syndrome · Cronkhite–Canada syndrome · Crouzon syndrome · Cutis verticis gyrata · DeSanctis–Cacchione syndrome · Dolichol kinase deficiency · Ectrodactyly–ectodermal dysplasia–cleft syndrome · Focal dermal hypoplasia · Franceschetti–Klein syndrome · Gardner's syndrome · Hallerman–Streiff syndrome · Hay–Wells syndrome · Hereditary sclerosing poikiloderma · IBIDS syndrome · Incontinentia pigmenti achromians · IPEX syndrome · Johanson–Blizzard syndrome · Johnson–McMillin syndrome · Joubert syndrome · Kabuki syndrome · Klippel–Feil syndrome · Lelis syndrome · Lenz–Majewski syndrome · Mandibuloacral dysplasia · Marinesco–Sjögren syndrome · Metageria · Multiple lentigines syndrome · Multiple sulfatase deficiency · Naegeli–Franceschetti–Jadassohn syndrome · Neurofibromatosis (Neurofibromatosis type 1, Neurofibromatosis type 3, Neurofibromatosis type 4, Segmental neurofibromatosis) · Neutral lipid storage disease · Noonan syndrome · Oculocerebrocutaneous syndrome · Oculodentodigital dysplasia · Odonto–Tricho–Ungual–Digital–Palmar syndrome · Oliver–McFarlane syndrome · Pachydermoperiostosis · Peeling skin syndrome · Pfeiffer syndrome · Popliteal pterygium syndrome · Porokeratosis (Porokeratosis palmaris et plantaris disseminata, Craniosynostosis–anal anomalies–porokeratosis syndrome, Disseminated superficial actinic porokeratosis, Disseminated superficial porokeratosis, Linear porokeratosis, Plaque-type porokeratosis, Punctate porokeratosis) · Prader–Willi syndrome · Progeria · Progressive osseous heteroplasia · Progressive symmetric erythrokeratodermia · Proteus syndrome · Rapp–Hodgkin syndrome · Refsum's disease · Restrictive dermopathy · Rhizomelic chondrodysplasia punctata · Rombo syndrome · Rothmund–Thomson syndrome · Rud syndrome · Say syndrome · Scalp–ear–nipple syndrome · Schindler disease · Schinzel–Giedion syndrome · Scleroatrophic syndrome of Huriez · Senter syndrome · Shabbir syndrome · Silver–Russell syndrome · Skin fragility syndrome · Terminal osseous dysplasia with pigmentary defects · Tooth and nail syndrome · Townes–Brocks syndrome · Transient bullous dermolysis of the newborn · Treacher Collins syndrome · Tricho–rhino–phalangeal syndrome · Tuberous sclerosis · Ulnar–mammary syndrome · Van Der Woude syndrome · Von Hippel–Lindau syndrome · Watson syndrome · Werner syndrome · Westerhof syndrome · Whistling syndrome · Wilson–Turner syndrome · Wolf–Hirschhorn syndrome · X-linked recessive chondrodysplasia punctata · Zimmermann–Laband syndrome

Without OMIM

Childhood tumor syndrome · Ectodermal dysplasia with corkscrew hairs · Fanconi syndrome · Follicular atrophoderma · Generalized trichoepithelioma · Haber syndrome · Jaffe–Campanacci syndrome · Leschke syndrome · Linear and whorled nevoid hypermelanosis · McCusick syndrome · PIBI(D)S syndrome · Pityriasis rotunda · POEMS syndrome · Polyostotic fibrous dysplasia · Proteus-like syndrome · Relapsing linear acantholytic dermatosis · Supernumerary nipples–uropathies–Becker's nevus syndrome

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

keratin disease (Monilethrix) · Sabinas brittle hair syndrome · Pili annulati · Pili torti · Uncombable hair syndrome

noco/cong/tumr, sysi/epon

proc, drug(D10)

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

Breast

Amastia · Polymastia · Micromastia

Nipple

Athelia · Polythelia

Pathology: chromosome abnormalities (Q90-Q99 · 758)

Trisomies	Down syndrome (21) · Edwards syndrome (18) · Patau syndrome (13) Trisomy 9 · Warkany syndrome 2 (8) · Trisomy 22/Cat eye syndrome (22) · Trisomy 16
Monosomies/deletions	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) genomic imprinting (Angelman syndrome/Prader–Willi syndrome (15)) 18q deletion syndrome

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)

Gonadal dysgenesis

Mixed gonadal dysgenesis · XX gonadal dysgenesis

Other

Fragile X syndrome · Uniparental disomy · XX male syndrome

Lymphatic disease: splenic disease (D73/Q89.0, 289.4-289.5/759.0)

Acquired

Acquired asplenia/hyposplenism · Wandering spleen · Splenomegaly (Banti's syndrome)

Congenital

Congenital asplenia/hyposplenism · Accessory spleen · Polysplenia

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

lydi/spdi/thdi/thtu/vatu

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/cell

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

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

v t 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

v t e Phakomatoses (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 t 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	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
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)

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