Congenital malformations, deformations and chromosomal abnormalities
Comprehensive block of valid target categories.
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88 CATEGORIESAnencephaly and similar malformations
Encephalocele
Microcephaly
Congenital hydrocephalus
Other congenital malformations of brain
Spina bifida
Other congenital malformations of spinal cord
Other congenital malformations of nervous system
Congenital malformations of eyelid, lacrimal apparatus and orbit
Anophthalmos, microphthalmos and macrophthalmos
Congenital lens malformations
Congenital malformations of anterior segment of eye
Congenital malformations of posterior segment of eye
Other congenital malformations of eye
Congenital malformations of ear causing impairment of hearing
Other congenital malformations of ear
Other congenital malformations of face and neck
Congenital malformations of cardiac chambers and connections
Congenital malformations of cardiac septa
Congenital malformations of pulmonary and tricuspid valves
Congenital malformations of aortic and mitral valves
Other congenital malformations of heart
Congenital malformations of great arteries
Congenital malformations of great veins
Other congenital malformations of peripheral vascular system
Other congenital malformations of circulatory system
Congenital malformations of nose
Congenital malformations of larynx
Congenital malformations of trachea and bronchus
Congenital malformations of lung
Other congenital malformations of respiratory system
Cleft palate
Cleft lip
Cleft palate with cleft lip
Other congenital malformations of tongue, mouth and pharynx
Congenital malformations of esophagus
Other congenital malformations of upper alimentary tract
Congenital absence, atresia and stenosis of small intestine
Congenital absence, atresia and stenosis of large intestine
Other congenital malformations of intestine
Congenital malformations of gallbladder, bile ducts and liver
Other congenital malformations of digestive system
Congenital malformations of ovaries, fallopian tubes and broad ligaments
Congenital malformations of uterus and cervix
Other congenital malformations of female genitalia
Undescended and ectopic testicle
Hypospadias
Other congenital malformations of male genital organs
Indeterminate sex and pseudohermaphroditism
Renal agenesis and other reduction defects of kidney
Cystic kidney disease
Congenital obstructive defects of renal pelvis and congenital malformations of ureter
Other congenital malformations of kidney
Other congenital malformations of urinary system
Congenital deformities of hip
Congenital deformities of feet
Congenital musculoskeletal deformities of head, face, spine and chest
Other congenital musculoskeletal deformities
Polydactyly
Syndactyly
Reduction defects of upper limb
Reduction defects of lower limb
Reduction defects of unspecified limb
Other congenital malformations of limb(s)
Other congenital malformations of skull and face bones
Congenital malformations of spine and bony thorax
Osteochondrodysplasia with defects of growth of tubular bones and spine
Other osteochondrodysplasias
Congenital malformations of musculoskeletal system, not elsewhere classified
Congenital ichthyosis
Epidermolysis bullosa
Other congenital malformations of skin
Congenital malformations of breast
Other congenital malformations of integument
Phakomatoses, not elsewhere classified
Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
Other specified congenital malformation syndromes affecting multiple systems
Other congenital malformations, not elsewhere classified
Down syndrome
Trisomy 18 and Trisomy 13
Other trisomies and partial trisomies of the autosomes, not elsewhere classified
Monosomies and deletions from the autosomes, not elsewhere classified
Balanced rearrangements and structural markers, not elsewhere classified
Turner's syndrome
Other sex chromosome abnormalities, female phenotype, not elsewhere classified
Other sex chromosome abnormalities, male phenotype, not elsewhere classified
Other chromosome abnormalities, not elsewhere classified
Neurodevelopmental disorders related to specific genetic pathogenic variants