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377791 morphological anomaly

definition

A set of anomalies resulting from a developmental anomaly involving only one morphogenetic field. Includes isolated anomalies and anatomical variants.

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100047 Esophageal duplication cyst

100048 Tubular duplication of the esophagus

101023 Cleft hard palate

101063 Situs inversus totalis

101351 Familial isolated congenital asplenia

101932 Anomaly of the mitral subvalvular apparatus

1048 Isolated anencephaly/exencephaly

105 Atresia of urethra

1053 Vein of Galen aneurysm

1054 Aneurysm of sinus of Valsalva

1083 Microlissencephaly

1136 Arnold-Chiari malformation type II

1166 Congenital unilateral hypoplasia of depressor anguli oris

1198 Colonic atresia

1199 Esophageal atresia

1201 Atresia of small intestine

1203 Duodenal atresia

1205 Mitral atresia

1207 Pulmonary atresia with ventricular septal defect

1208 Pulmonary atresia-intact ventricular septum syndrome

1209 Tricuspid atresia

1309 Medullary sponge kidney

1320 Idiopathic camptocormia

1329 Complete atrioventricular canal

1330 Partial atrioventricular canal

137914 Choanal atresia

1398 Isolated cerebellar hypoplasia/agenesis

141013 First branchial cleft anomaly

141022 Second branchial cleft anomaly

141030 Third branchial cleft anomaly

141037 Fourth branchial cleft anomaly

141046 Cervical dermoid cyst

141051 Facial dermoid cyst

141061 Commissural lip fistula

141064 Lower lip fistula

141067 Cervicofacial fibrochondroma

141071 Digestive duplication cyst of the tongue

141074 External auditory canal aplasia/hypoplasia

141083 Nasolacrimal duct cyst

141103 Nasal dermoid cyst

141127 Congenital tracheal stenosis

141152 Isolated congenital hypoglossia/aglossia

141219 Nasal dorsum fistula/cyst

141239 Median cleft of the upper lip and maxilla

141242 Paramedian nasal cleft

141258 Tessier number 4 facial cleft

141261 Tessier number 5 facial cleft

141265 Tessier number 6 facial cleft

141276 Commissural facial cleft

141288 Midline cervical cleft

141291 Cleft lip and alveolus

1457 Aorta coarctation

1461 Criss-cross heart

1464 Univentricular heart

1478 Interatrial communication

155838 Pinnae fistula or cyst

155878 Submucosal cleft palate

155884 Coloboma of superior eyelid

155889 Coloboma of inferior eyelid

157769 Situs ambiguus

157801 Mesoaxial synostotic syndactyly with phalangeal reduction

157808 Congenital pseudoarthrosis of the limbs

162526 Isolated congenital auditory ossicle malformation

1666 Dextrocardia

1671 Diastematomyelia

1677 Familial idiopathic dilatation of the right atrium

1681 Diprosopus

1686 Cardiac diverticulum

171220 Rectal duplication

178382 Congenital vertical talus

180074 True unicornuate uterus

180079 Pseudounicornuate uterus

180086 Didelphys uterus

180118 Cordiform uterus

180126 Complete septate uterus

180129 Partial septate uterus

180139 Uterine hypoplasia

180142 Agenesis and aplasia of uterine body

180145 Uterine cervical aplasia and agenesis

180154 Septate vagina

180176 Familial juvenile hypertrophy of the breast

180182 Supernumerary breasts

180188 Isolated congenital breast hypoplasia/aplasia

1851 Multicystic dysplastic kidney

1864 Congenital valvular dysplasia

1880 Ebstein malformation

1928 Congenital lobar emphysema

199293 Congenital microgastria

199302 Isolated cleft lip

199306 Cleft lip/palate

199630 Isolated cerebellar vermis hypoplasia

199647 Isolated encephalocele

2004 Laryngotracheoesophageal cleft

2006 Median cleft lip/mandibule

2037 Congenital aortopulmonary window

2038 Pulmonary arteriovenous malformation

2039 Congenital systemic arteriovenous fistula

2040 Congenital bronchobiliary fistula

2041 Coronary arterial fistulas

2128 Isolated hemihyperplasia

2140 Congenital diaphragmatic hernia

2149 Nodular neuronal heterotopia

216694 Congenitally corrected transposition of the great arteries

217 Isolated Dandy-Walker malformation

217059 Isolated congenital digital clubbing

2190 Congenital hydronephrosis

2248 Hypoplastic left heart syndrome

2260 Oligomeganephronia

227 Diphallia

2285 Primary basilar invagination

2287 Fused mandibular incisors

2299 Aortic arch interruption

2300 Multiple intestinal atresia

2301 Congenital short bowel syndrome

2343 Isolated cloverleaf skull syndrome

2356 Arachnoid cyst

2357 Bronchogenic cyst

2368 Gastroschisis

237 Duplication of urethra

238 Digestive duplication

2456 Familial supernumerary nipples

2498 Syndactyly type 8

250923 Isolated aniridia

268369 Spina bifida aperta

268810 Posterior meningocele

268813 Myelocystocele

268820 Cranial meningocele

268835 Lipomyelomeningocele

268838 Leptomyelolipoma

268861 Primary tethered cord syndrome

268865 Neurenteric cyst

268868 Isolated amyelia

268882 Arnold-Chiari malformation type I

268936 Isolated arhinencephaly

268940 Bilateral polymicrogyria

268943 Unilateral polymicrogyria

269197 Glioependymal/ependymal cyst

269200 Retrocerebellar cyst

269203 Isolated cerebellar vermis agenesis

269218 Isolated unilateral hemispheric cerebellar hypoplasia

269221 Isolated bilateral hemispheric cerebellar hypoplasia

269229 Pontine tegmental cap dysplasia

2805 Partial pancreatic agenesis

2842 Penoscrotal transposition

294967 Amelia of upper limb

294969 Amelia of lower limb

294971 Tetra-amelia

294973 Humeral agenesis/hypoplasia

294975 Congenital absence of upper arm and forearm with hand present

294977 Congenital absence of thigh and lower leg with foot present

294979 Congenital absence of both forearm and hand

294981 Congenital absence of both lower leg and foot

294983 Acheiria

294986 Apodia

294988 Congenital absence/hypoplasia of thumb

295002 Hyperphalangy

295004 Central polydactyly of fingers

295012 Syndactyly type 6

295014 Familial isolated clinodactyly of fingers

295016 Camptodactyly of fingers

295028 Tibio-fibular synostosis

295030 Congenital shoulder dislocation

295032 Isolated congenital radial head dislocation

295034 Congenital knee dislocation

295036 Congenital patella dislocation

295044 Macrodactyly of fingers

295047 Macrodactyly of toes

295049 Upper limb hypertrophy

295051 Lower limb hypertrophy

2989 Familial pterygium of the conjunctiva

30391 Isolated Biliary atresia

306527 Isolated hereditary congenital facial paralysis

306530 Congenital hereditary facial paralysis-variable hearing loss syndrome

3092 Fixed subaortic stenosis

3093 Congenital aortic valve stenosis

313906 Congenital pancreatic cyst

314621 Duplication of the pituitary gland

3181 Sprengel deformity

3188 Congenital pulmonary veins atresia or stenosis

3189 Congenital pulmonary valve stenosis

319192 Diencephalic-mesencephalic junction dysplasia

3193 Supravalvular aortic stenosis

324353 Congenital achiasma

3248 Distal symphalangism

325124 Testicular agenesis

3265 Humero-radial synostosis

3266 Humero-radio-ulnar synostosis

3267 Familial lambdoid synostosis

3269 Congenital radioulnar synostosis

3289 Taurodontism

3346 Tracheal agenesis

3366 Isolated trigonocephaly

3384 Truncus arteriosus

3400 Aorto-ventricular tunnel

3403 Uhl anomaly

3426 Double outlet right ventricle

3427 Double outlet left ventricle

35093 Isolated scaphocephaly

35098 Isolated plagiocephaly

35099 Isolated brachycephaly

353334 Congenital retinal arteriovenous communication

35688 Madelung deformity

35737 Morning glory syndrome

364198 Bipartite talus

402075 Familial bicuspid aortic valve

411501 Williams-Campbell syndrome

411709 Renal agenesis

431341 Patent urachus

431344 Urachal sinus

431347 Urachal diverticulum

435372 Anterior urethral valve

439 Isolated right ventricular hypoplasia

440 Familial hypospadias

440987 Isolated agenesis of gallbladder

448270 Ectopia cordis

451612 Familial congenital nasolacrimal duct obstruction

454750 Isolated tracheo-esophageal fistula

457083 Isolated splenogonadal fusion

464760 Familial cavitary optic disc anomaly

466695 Supratip dysplasia

466729 Familial patent arterial duct

46724 Cerebral arteriovenous malformation

48 Congenital bilateral absence of vas deferens

480501 Choledochal cyst

480531 Congenital portosystemic shunt

488 Urachal cyst

49 Penile agenesis

490 Omphalomesenteric cyst

494424 Extracranial carotid artery aneurysm

495879 Congenital agenesis of the scrotum

498494 Mirror-image polydactyly

498602 Sugarman brachydactyly

53691 Congenital cornea plana

557 Isolated anorectal malformation

617 Congenital primary megaureter

620 Common mesentery

624 Familial multiple nevi flammei

63259 Iniencephaly

63260 Craniorachischisis

63440 Isolated oxycephaly

65681 Vaginal atresia

660 Omphalocele

674 Accessory pancreas

675 Annular pancreas

708 Peters anomaly

741 Familial mitral valve prolapse

83463 Microtia

860 Congenitally uncorrected transposition of the great arteries

86789 Patella aplasia/hypoplasia

91358 Congenital esophageal diverticulum

91396 Isolated cryptophthalmia

91397 Isolated ankyloblepharon filiforme adnatum

91483 Rieger anomaly

91489 Isolated congenital megalocornea

91490 Isolated congenital sclerocornea

931 Acheiropodia

93101 Renal hypoplasia

93108 Renal dysplasia

93109 Congenital megacalycosis

93110 Posterior urethral valve

93320 Ulnar hemimelia

93321 Radial hemimelia

93322 Tibial hemimelia

93323 Fibular hemimelia

93334 Postaxial polydactyly type A

93335 Postaxial polydactyly type B

93336 Polydactyly of a triphalangeal thumb

93337 Polydactyly of an index finger

93338 Polysyndactyly

93339 Polydactyly of a biphalangeal thumb

93402 Syndactyly type 1

93403 Syndactyly type 2

93404 Syndactyly type 3

93405 Syndactyly type 4

93406 Syndactyly type 5

93942 Celosomia

93953 Familial thyroglossal duct cyst

93969 Myelomeningocele

93976 Anotia

94056 Humero-ulnar synostosis

95430 Congenital tracheomalacia

95443 Mesocardia

95457 Tricuspid valve agenesis

95458 Tricuspid valve prolapse

95459 Congenital tricuspid stenosis

95461 Straddling or overriding tricuspid valve

95462 Accessory tricuspid valve tissue

95465 Cleft mitral valve

95484 Aneurysm or dilatation of ascending aorta

95486 Premature closure of the arterial duct

95491 Congenital coronary artery aneurysm

95496 Pituitary stalk interruption syndrome

95507 Congenital anomaly of hepatic vein

95706 Posterior hypospadias

95707 Isolated micropenis

95712 Thyroid ectopia

95713 Athyreosis

95719 Thyroid hemiagenesis

95720 Thyroid hypoplasia

95854 Levocardia

96269 Isolated partial vaginal agenesis

97252 Mega-cisterna magna

973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral

97339 Dural sinus malformation

97366 Multiloculated renal cyst

980 Absence of the pulmonary artery

981 Internal carotid agenesis

983 Testicular regression syndrome

984 Pulmonary agenesis

98922 Blake pouch cyst

98942 Coloboma of choroid and retina

98943 Coloboma of eye lens

98944 Coloboma of iris

98945 Coloboma of macula

98946 Coloboma of eyelid

98947 Coloboma of optic disc

98978 Axenfeld anomaly

99049 Pulmonary artery coming from patent ductus arteriosus

99050 Pulmonary artery coming from the aorta

99055 Anomaly of the tricuspid valve chordae

99056 Parachute tricuspid valve

99057 Congenital mitral stenosis

99058 Hypoplasia of the mitral valve annulus

99059 Congenital supravalvular mitral ring

99060 Congenital unguarded mitral orifice

99061 Accessory mitral valve tissue

99062 Mitral valve agenesis

99072 Congenital patent ductus arteriosus aneurysm

99075 Encircling double aortic arch

99076 Persistent fifth aortic arch

99077 Kommerell diverticulum

99078 Neuhauser anomaly

99079 Cervical aortic arch

99081 Right aortic arch

99082 Dysphagia lusoria

99083 Pulmonary artery hypoplasia

99084 Pulmonary branch stenosis

99085 Coronary artery intramyocardial course

99086 Aortopulmonary coronary arterial course

99087 Stenosis or atresia of the coronary ostium

99088 Intramural coronary arterial course

99089 Abnormal number of coronary ostia

99090 Malposition of the coronary ostium

99092 Interventricular septum aneurysm

99094 Laubry-Pezzi syndrome

99095 Congenital Gerbode defect

99098 Cor triatriatum dexter

99099 Cor triatriatum sinister

99100 Juxtaposition of the atrial appendages

99101 Ectasia of the right atrial appendage

99102 Ectasia of the left atrial appendage

99107 Atrial septal aneurysm

99108 Patent foramen ovale

99109 Persistent left superior vena cava connecting to the left-sided atrium

99110 Right superior vena cava connecting to left-sided atrium

99111 Left superior vena cava persisting to left-sided atrium

99112 Absence of innominate vein

99113 Subaortic course of innominate vein

99114 Agenesis of the superior vena cava

99117 Coronary sinus stenosis

99118 Coronary sinus atresia

99119 Right inferior vena cava connecting to left-sided atrium

99120 Persistent eustachian valve

99121 Azygos continuation of the inferior vena cava

99122 Congenital stenosis of the inferior vena cava

99123 Inferior vena cava interruption

99124 Congenital partial pulmonary venous return anomaly

99125 Congenital total pulmonary venous return anomaly

99129 Congenital complete agenesis of pericardium

99130 Congenital partial agenesis of pericardium

99131 Pleuro-pericardial cyst

99169 Epiblepharon

99170 Tarsal kink syndrome

99171 Isolated congenital ectropion

99172 Euryblepharon

99176 Congenital eyelid retraction

99177 Isolated distichiasis

99771 Bifid uvula

99772 Cleft velum

99796 Subcortical band heterotopia

99797 Anodontia

99798 Oligodontia

99856 Primary syringomyelia