Congenital Abnormalities
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Full list of all malformations
Head
Skull
Anencephaly
Cloverleaf skull
Face
Eye
Anophtalmos and Microphtalmos
Congenital Cataract
Aniridia
Corneal opacity
Cryptophthalmia
Congenital Glaucoma or Buphthalmia
Epibulbar dermoids
INTER-OCULAR DISTANCES
Ocular Hypertelorism
Hipotelorismo ocular
Eyelid
Eyelid anomalies
Palpebral ptosis
Facial asymmetry WITHOUT defects
Preauricular Fistula (or dimple)
Micrognathia and Retrognathia
Ear
Ear anomalies
Preauricular tags
Ear malformation - Microtia/Anotia
Earlobe cleft - Marked lobe
Macrotia
Ear Deformities
Abnormalities of the Implantation of the Ears - Agnathia Otocephaly
Mouth
Macrostomia
Cleft lip with cleft palate
Ankyloglossia
Cleft lip without cleft palate
Pit of the lower lip
Gengivolabial Bands
Epulis
Congenital Tooth
Ranula
Cleft Lip and/or Cleft Palate
Cleft lip with or without cleft palate
Macroglossia
Cyst or lingual hamartoma
Cleft palate without cleft lip
Nose
Arrhinia
Nasal Anomaly, Other
Choanal atresia
Alae Nasae Cleft
Neck
Webbed neck - Pterygium of joints
Craniorrachischisis
Iniencephaly
Encephalocele
Microcephaly
Hydrocephalus
Cranial Deformities
Congenital alopecia
Aplasia cutis vertex - White Forelock
Malar hypoplasia
Lower limbs
Anus
Anorectal atresia/stenosis
Exstrophy of Cloaca
Persistent cloaca
Knee
Knee dislocation
Foot
Congenital Foot Deformities Talipes / Clubfoott
Talipes Equinovarus
Talipes Talovalgus
Toes
Foot preaxial polydactyly
Foot postaxial polydactyly and Other foot polydactylies
Toe syndactyly
Swelling of feet
Sirenomelia
Limb reduction defects: Transverse Intercalar: Femoral Hypoplasia
Limb reduction defects - Combined Types
General
Skin
Hemangioma
Skin Tags
Pigmented nevus
Politelia
Hypertrichosis
Other specified congenital malformations of face and neck
Constrictive Bands - Pectoral Deficiency
Arthrogryposis
Hydrops
Coupled or conjoined twins
Down syndrome
Acardiac-acephalus
Short Limbs and Corporal Disproportion
Collodion
Arhinencephaly/holoprosencephaly
Situs Inversus
Dorsal region
Pilonidal defects
Vertebral column
Spina bifida
Scoliosis by bone malformation
Thorax
Congenital Heart Disease
Transposition of great vessels
Patent Foramen Ovale
Tetralogy of Fallot
Hypoplastic left heart syndrome
Ectopia Cordis
Patent ductus arteriosus
Coarctation of the aorta
Esophageal atresia/stenosis
Pectus excavatum
Diaphragmatic hernia
Abdomen
Single umbilical artery
Kidney Agenesis
Kidney hypolasia
Bladder exstrophy
Omphalocele
Gastroschisis
Prune belly sequence
Celossomia (Estrofossomia)
Umbilical hernia
Inguinal hernia
Other anomalies of the umbilical cord
Small intestine atresia/stenosis
Polycystic kidney disease
Ureteropelvic dilatation
Horseshoe kidneys
Abdominal wall defects
Fetal ascites
Hip
Hip dislocation
Rigid Hip
Hip dislocation
Genitals
Hydrocele
Imperforate hymen
Absent penis
Hypospadias
Ambiguous Genitalia - Indeterminate sex
Phimosis
Cryptorchidism
Malformations of the uterus and cervix
Peno-scrotal Transposition and Shawl scrotum
Epispadias
OEIS complex (*) [Q87.8] [Not mentioned in ICD10]
Limbs
Limb reduction defects
Limb reduction defects - Terminal Transverse - Amelia
Limb reduction defects - Terminal Transverse Rizo, or Mesomelia
Limb reduction defects - Transverse Intercalar - Phocomelia
Limb reduction defects - Transverse Terminal, Telomelico
Limb reduction defects - Longitudinal Pre-axial
Limb reduction defects - Longitudinal Post-axial
Limb reduction defects - Longitudinal Axial
Technology in the quest for neonatal defect
Appropriate technology in the quest for neonatal birth defects