Chapter 20: Developmental Anomalies

Anencephaly or similar anomalies

Cephalocele

Spina bifida

Arnold-Chiari malformation type II

Congenital hydrocephalus

Cerebral structural developmental anomalies

Cerebellar structural developmental anomalies

Structural developmental anomalies of the neurenteric canal, spinal cord or vertebral column

Other specified structural developmental anomalies of the nervous system

Structural developmental anomalies of the nervous system, unspecified

Other specified structural developmental anomalies primarily affecting one body system

Structural developmental anomalies primarily affecting one body system, unspecified

Structural developmental anomalies of ocular globes

Structural developmental anomalies of the anterior segment of eye

Structural developmental anomalies of lens or zonula

Structural developmental anomalies of the posterior segment of eye

Structural developmental anomalies of eyelid, lacrimal apparatus or orbit

Other specified structural developmental anomalies of the eye, eyelid or lacrimal apparatus

Structural developmental anomalies of the eye, eyelid or lacrimal apparatus, unspecified

Structural anomaly of eustachian apparatus

Minor anomalies of pinnae

Structural developmental anomalies of ear causing hearing impairment

Otocephaly

Accessory auricle

Other specified structural developmental anomalies of the ear

Structural developmental anomalies of the ear, unspecified

Structural developmental anomalies of teeth and periodontal tissues

Structural developmental anomalies of mouth or tongue

Congenital velopharyngeal incompetence

Facial clefts

Facial asymmetry

Macrocheilia

Microcheilia

Compression facies

Pierre Robin syndrome

Other specified structural developmental anomalies of the face

Structural developmental anomalies of the face, unspecified

Cleft lip

Cleft lip and alveolus

Cleft palate

Other specified clefts of lip, alveolus or palate

Clefts of lip, alveolus or palate, unspecified

Webbed neck

Congenital sternomastoid tumour

Congenital torticollis

Other specified structural developmental anomalies of the neck

Structural developmental anomalies of the neck, unspecified

Structural developmental anomalies of the nose or cavum

Structural developmental anomalies of larynx

Laryngotracheooesophageal cleft

Structural developmental anomalies of trachea

Structural developmental anomalies of bronchi

Structural developmental anomalies of lungs

Structural developmental anomalies of pleura

Congenital cyst of mediastinum

Other specified structural developmental anomalies of the respiratory system

Structural developmental anomalies of the respiratory system, unspecified

Anomalous position-orientation of heart

Abnormal ventricular relationships

Total mirror imagery

Right isomerism

Left isomerism

Congenital anomaly of an atrioventricular or ventriculo-arterial connection

Congenital anomaly of mediastinal vein

Congenital anomaly of an atrioventricular valve or atrioventricular septum

Congenital anomaly of a ventricle or the ventricular septum

Functionally univentricular heart

Congenital anomaly of a ventriculo-arterial valve or adjacent regions

Congenital anomaly of great arteries including arterial duct

Congenital anomaly of coronary artery

Congenital pericardial anomaly

Congenital anomaly of atrial septum

Congenital anomaly of right atrium

Congenital anomaly of left atrium

Other specified structural developmental anomaly of heart or great vessels

Structural developmental anomaly of heart or great vessels, unspecified

Structural developmental anomalies of the peripheral vascular system

Other specified structural developmental anomalies of the circulatory system

Structural developmental anomalies of the circulatory system, unspecified

Structural developmental anomalies of diaphragm

Omphalocele

Gastroschisis

Structural developmental anomalies of umbilical cord

Other specified structural developmental anomalies of the diaphragm, abdominal wall or umbilical cord

Structural developmental anomalies of the diaphragm, abdominal wall or umbilical cord, unspecified

Structural developmental anomalies of salivary glands or ducts

Congenital diverticulum of pharynx

Structural developmental anomalies of oesophagus

Structural developmental anomalies of stomach

Structural developmental anomalies of duodenum

Structural developmental anomalies of small intestine

Structural developmental anomalies of large intestine

Structural developmental anomalies of anal canal

Congenital anomalies of intestinal fixation

Other specified structural developmental anomalies of the digestive tract

Structural developmental anomalies of the digestive tract, unspecified

Structural developmental anomalies of gallbladder, bile ducts or liver

Structural developmental anomalies of pancreas

Structural developmental anomalies of spleen

Other specified structural developmental anomalies of the liver, biliary tract, pancreas or spleen

Structural developmental anomalies of the liver, biliary tract, pancreas or spleen, unspecified

Structural developmental anomalies of kidneys

Structural developmental anomalies of urinary tract

Other specified structural developmental anomalies of the urinary system

Structural developmental anomalies of the urinary system, unspecified

Structural developmental anomalies of vulva

Structural developmental anomalies of clitoris

Structural developmental anomalies of vagina

Structural developmental anomalies of cervix uteri

Structural developmental anomalies of uterus, except cervix

Structural developmental anomalies of ovaries, fallopian tubes or broad ligaments

Other specified structural developmental anomalies of the female genital system

Structural developmental anomalies of the female genital system, unspecified

Micropenis or penis agenesis

Anorchia or microorchidia

Cryptorchidism

Hypospadias

Congenital chordee

Epispadias

Bifid scrotum

Agenesis of vas deferens

Polyorchidism

Hypoplasia of testis or scrotum

Other specified structural developmental anomalies of the male genital system

Structural developmental anomalies of the male genital system, unspecified

Breast aplasia

Absent nipple

Supernumerary breasts

Accessory nipple

Other specified structural developmental anomalies of the breast

Structural developmental anomalies of the breast, unspecified

Structural developmental anomalies of cranium

Structural developmental anomalies of facial bones

Structural developmental anomalies of shoulder girdle

Structural developmental anomalies of spine or bony thorax

Structural developmental anomalies of pelvic girdle

Brachydactyly

Triphalangeal thumb

Hyperphalangy

Polydactyly

Syndactyly

Joint formation defects

Congenital shoulder dislocation

Congenital elbow dislocation

Congenital knee dislocation

Congenital patella dislocation

Patella aplasia or hypoplasia

Congenital bowing of long bones

Limb overgrowth

Congenital deformities of feet

Reduction defects of upper limb

Reduction defects of lower limb

Reduction defects of upper and lower limbs

Other specified structural developmental anomalies of the skeleton

Structural developmental anomalies of the skeleton, unspecified

Congenital deformities of fingers

Congenital deformities of toes

Keratinocytic epidermal hamartoma

Pilosebaceous hamartoma

Complex epidermal hamartoma

Other specified developmental hamartomata of the epidermis and epidermal appendages

Dermoid cyst

Other specified structural developmental anomalies of the skin

Structural developmental anomalies of the skin, unspecified

Dermal melanocytosis

Other specified developmental anomalies of skin pigmentation

Connective tissue hamartoma

Other specified hamartomata derived from dermal connective tissue

Developmental defects of hair or hair growth

Developmental defects of the nail apparatus

Developmental capillary vascular malformations of the skin

Developmental venous malformations involving the skin

Complex or combined developmental vascular malformations involving the skin

Other specified developmental anomalies of cutaneous vasculature

Developmental anomalies of cutaneous vasculature, unspecified

Aplasia cutis congenita

Congenital adrenal hypoplasia

Other specified structural developmental anomalies of the adrenal glands

Structural developmental anomalies of the adrenal glands, unspecified

Syndromes with central nervous system anomalies as a major feature

Syndromes with eye anomalies as a major feature

Syndromes with dental anomalies as a major feature

Syndromes with vascular anomalies as a major feature

Syndromes with skeletal anomalies as a major feature

Syndromes with face or limb anomalies as a major feature

Syndromes with limb anomalies as a major feature

Syndromes with skin or mucosal anomalies as a major feature

Syndromes with connective tissue involvement as a major feature

Syndromes with obesity as a major feature

Malformative disorders of sex development

Syndromes with premature ageing appearance as a major feature

Overgrowth syndromes

Phakomatoses or hamartoneoplastic syndromes

Syndromes with structural anomalies due to inborn errors of metabolism

Syndromes with multiple structural anomalies, without predominant body system involvement

Conjoined twins

Syndromic genetic deafness

Other specified multiple developmental anomalies or syndromes

Multiple developmental anomalies or syndromes, unspecified

Complete trisomies of the autosomes

Duplications of the autosomes

Polyploidies

Complete monosomies of the autosomes

Deletions of the autosomes

Uniparental disomies

Imprinting errors

Balanced rearrangements or structural rearrangements

Other specified chromosomal anomalies, excluding gene mutations

Chromosomal anomalies, excluding gene mutations, unspecified

Number anomalies of chromosome X

Structural anomalies of chromosome X, excluding Turner syndrome

Number anomalies of chromosome Y

Structural anomalies of chromosome Y

Male with sex chromosome mosaicism

Fragile X chromosome

Chimaera 46, XX, 46, XY

Other specified sex chromosome anomalies

Sex chromosome anomalies, unspecified