Phenotypes > Congenital anomalies in children

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Congenital anomalies in children

Zylbersztejn A, Verfürden M, Hardelid P, Gilbert R, Wijlaars L.

ID
PH30
Version ID
60
Type
Disease or Syndrome
Data Sources
Hospital Episode Statistics Admitted Patient Care , Civil Registration - Deaths , General Acute Inpatient and Day Case - Scottish Morbidity Record (SMR01) , Scottish Birth Record (SBR)
Valid event data range
01/01/2003 - 31/12/2014
Sex
♀  Female ♂  Male
Agreement Date
2020-02-01
Coding system
ICD10 codes
Collections
Phenotype Library
Tags
No tags

Definition

We compared prevalence, and risk of prognostic outcomes (hospital readmission and death) according to each code list in England and Scotland. Feudtner code list identified the least prevalent but most severe congenital anomalies. The EUROCAT code list identified the largest and least severely affected group.

This code list was developed by the EUROCAT network to classify unstandardized text in congenital anomaly registries for surveillance in Europe;

Details can be found here:

EUROCAT Guide 1.4 and Reference Documents (Last update version 28/12/2018). 2013. Available from: https://eu-rd-platform.jrc.ec.europa.eu/sites/default/files/Full_Guide_1_4_version_28_DEC2018.pdf

EUROCAT website: https://eu-rd-platform.jrc.ec.europa.eu/eurocat

This code list was developed to identify children with chronic conditions (including congenital anomalies) admitted to hospitals in England. We used a subgroup of Hardelid codes from Chapter 17 of ICD-10 (“Congenital malformations, deformations and chromosomal abnormalities”, that is all codes starting with “Q”) to indicate congenital anomalies.

Details can be found here:

Hardelid P, Dattani N, Gilbert R. Estimating the prevalence of chronic conditions in children who die in England, Scotland and Wales: a data linkage cohort study. BMJ Open. 2014 Jan;4(8):e005331. doi: http://dx.doi.org/10.1136/bmjopen-2014-005331

Hardelid P, Dattani N, Davey J, Pribramska I, Gilbert R. Overview of child deaths in the four UK countries. London; 2013. Available from: https://www.hqip.org.uk/resource/overview-of-child-deaths-in-the-four-uk-countries/#.Xc5x1fn7Q2w(accessed 15 November 2019)

This code list was developed to indicate children with complex chronic conditions (including congenital anomalies) admitted to hospitals in the United States. Initially it was created using ICD version 9 and it was later updated to ICD-10. Again, we only used a subgroup of Feudtner codes from Chapter 17 of ICD-10.

Details can be found here:

Feudtner C, Feinstein JA, Zhong W, Hall M, Dai D. Pediatric complex chronic conditions classification system version 2: Updated for ICD-10 and complex medical technology dependence and transplantation. BMC Pediatrics 2014;14 doi: http://dx.doi.org/10.1186/1471-2431-14-199

additional resources: https://feudtnerlab.research.chop.edu/ccc_version_2.php (accessed 15 November 2019)

Implementation


https://kclhi.org/phenoflow/phenotype/download/106

Publications

  • Zylbersztejn A, Verfürden M, Hardelid P, Gilbert R, Wijlaars L. Phenotyping congenital anomalies in administrative hospital records. Paediatr Perinat Epidemiol. 2019; 34: 21– 28. https://doi.org/10.1111/ppe.12627

Clinical Code List

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Rows: 536
Code Description
D181 Lymphangioma, any site
D215 Benign neoplasm: Connective and other soft tissue of pelvis
D821 Di George syndrome
P350 Congenital rubella syndrome
P351 Congenital cytomegalovirus infection
P371 Congenital toxoplasmosis
Q000 Anencephaly
Q001 Craniorachischisis
Q002 Iniencephaly
Q010 Frontal encephalocele
Q011 Nasofrontal encephalocele
Q012 Occipital encephalocele
Q018 Encephalocele of other sites
Q019 Encephalocele, unspecified
Q02 Microcephaly
Q030 Malformations of aqueduct of Sylvius
Q031 Atresia of foramina of Magendie and Luschka
Q038 Other congenital hydrocephalus
Q039 Congenital hydrocephalus, unspecified
Q040 Congenital malformations of corpus callosum
Q041 Arhinencephaly
Q042 Holoprosencephaly
Q043 Other reduction deformities of brain
Q044 Septo-optic dysplasia
Q045 Megalencephaly
Q046 Congenital cerebral cysts
Q048 Other specified congenital malformations of brain
Q049 Congenital malformation of brain, unspecified
Q050 Cervical spina bifida with hydrocephalus
Q051 Thoracic spina bifida with hydrocephalus
Q052 Lumbar spina bifida with hydrocephalus
Q053 Sacral spina bifida with hydrocephalus
Q054 Unspecified spina bifida with hydrocephalus
Q055 Cervical spina bifida without hydrocephalus
Q056 Thoracic spina bifida without hydrocephalus
Q057 Lumbar spina bifida without hydrocephalus
Q058 Sacral spina bifida without hydrocephalus
Q059 Spina bifida, unspecified
Q060 Amyelia
Q061 Hypoplasia and dysplasia of spinal cord
Q062 Diastematomyelia
Q063 Other congenital cauda equina malformations
Q064 Hydromyelia
Q068 Other specified congenital malformations of spinal cord
Q069 Congenital malformation of spinal cord, unspecified
Q070 Arnold-Chiari syndrome
Q078 Other specified congenital malformations of nervous system
Q079 Congenital malformation of nervous system, unspecified
Q100 Congenital ptosis
Q104 Absence and agenesis of lacrimal apparatus
Q106 Other congenital malformations of lacrimal apparatus
Q107 Congenital malformation of orbit
Q110 Cystic eyeball
Q111 Other anophthalmos
Q112 Microphthalmos
Q113 Macrophthalmos
Q120 Congenital cataract
Q121 Congenital displaced lens
Q122 Coloboma of lens
Q123 Congenital aphakia
Q124 Spherophakia
Q128 Other congenital lens malformations
Q129 Congenital lens malformation, unspecified
Q130 Coloboma of iris
Q131 Absence of iris
Q132 Other congenital malformations of iris
Q133 Congenital corneal opacity
Q134 Other congenital corneal malformations
Q138 Other congenital malformations of anterior segment of eye
Q139 Congenital malformation of anterior segment of eye, unspecified
Q140 Congenital malformation of vitreous humour
Q141 Congenital malformation of retina
Q142 Congenital malformation of optic disc
Q143 Congenital malformation of choroid
Q148 Other congenital malformations of posterior segment of eye
Q149 Congenital malformation of posterior segment of eye, unspecified
Q150 Congenital glaucoma
Q158 Other specified congenital malformations of eye
Q159 Congenital malformation of eye, unspecified
Q160 Congenital absence of (ear) auricle
Q161 Congenital absence, atresia and stricture of auditory canal (external)
Q162 Absence of eustachian tube
Q163 Congenital malformation of ear ossicles
Q164 Other congenital malformations of middle ear
Q165 Congenital malformation of inner ear
Q169 Congenital malformation of ear causing impairment of hearing, unspecified
Q178 Other specified congenital malformations of ear
Q183 Webbing of neck
Q188 Other specified congenital malformations of face and neck
Q200 Common arterial trunk
Q201 Double outlet right ventricle
Q202 Double outlet left ventricle
Q203 Discordant ventriculoarterial connection
Q204 Double inlet ventricle
Q205 Discordant atrioventricular connection
Q206 Isomerism of atrial appendages
Q208 Other congenital malformations of cardiac chambers and connections
Q209 Congenital malformation of cardiac chambers and connections, unspecified
Q210 Ventricular septal defect
Q211 Atrial septal defect
Q212 Atrioventricular septal defect
Q213 Tetralogy of Fallot
Q214 Aortopulmonary septal defect
Q218 Other congenital malformations of cardiac septa
Q219 Congenital malformation of cardiac septum, unspecified
Q220 Pulmonary valve atresia
Q221 Congenital pulmonary valve stenosis
Q222 Congenital pulmonary valve insufficiency
Q223 Other congenital malformations of pulmonary valve
Q224 Congenital tricuspid stenosis
Q225 Ebstein anomaly
Q226 Hypoplastic right heart syndrome
Q228 Other congenital malformations of tricuspid valve
Q229 Congenital malformation of tricuspid valve, unspecified
Q230 Congenital stenosis of aortic valve
Q231 Congenital insufficiency of aortic valve
Q232 Congenital mitral stenosis
Q233 Congenital mitral insufficiency
Q234 Hypoplastic left heart syndrome
Q238 Other congenital malformations of aortic and mitral valves
Q239 Congenital malformation of aortic and mitral valves, unspecified
Q240 Dextrocardia
Q241 Laevocardia
Q242 Cor triatriatum
Q243 Pulmonary infundibular stenosis
Q244 Congenital subaortic stenosis
Q245 Malformation of coronary vessels
Q246 Congenital heart block
Q248 Other specified congenital malformations of heart
Q249 Congenital malformation of heart, unspecified
Q250 Patent ductus arteriosus
Q251 Coarctation of aorta
Q252 Atresia of aorta
Q253 Stenosis of aorta
Q254 Other congenital malformations of aorta
Q255 Atresia of pulmonary artery
Q256 Stenosis of pulmonary artery
Q257 Other congenital malformations of pulmonary artery
Q258 Other congenital malformations of great arteries
Q259 Congenital malformation of great arteries, unspecified
Q260 Congenital stenosis of vena cava
Q262 Total anomalous pulmonary venous connection
Q263 Partial anomalous pulmonary venous connection
Q264 Anomalous pulmonary venous connection, unspecified
Q265 Anomalous portal venous connection
Q266 Portal vein-hepatic artery fistula
Q268 Other congenital malformations of great veins
Q269 Congenital malformation of great vein, unspecified
Q271 Congenital renal artery stenosis
Q272 Other congenital malformations of renal artery
Q273 Peripheral arteriovenous malformation
Q274 Congenital phlebectasia
Q278 Other specified congenital malformations of peripheral vascular system
Q279 Congenital malformation of peripheral vascular system, unspecified
Q280 Arteriovenous malformation of precerebral vessels
Q281 Other malformations of precerebral vessels
Q282 Arteriovenous malformation of cerebral vessels
Q283 Other malformations of cerebral vessels
Q288 Other specified congenital malformations of circulatory system
Q289 Congenital malformation of circulatory system, unspecified
Q300 Choanal atresia
Q301 Agenesis and underdevelopment of nose
Q302 Fissured, notched and cleft nose
Q303 Congenital perforated nasal septum
Q308 Other congenital malformations of nose
Q309 Congenital malformation of nose, unspecified
Q310 Web of larynx
Q311 Congenital subglottic stenosis
Q312 Laryngeal hypoplasia
Q313 Laryngocele
Q315 Congenital laryngomalacia
Q318 Other congenital malformations of larynx
Q319 Congenital malformation of larynx, unspecified
Q321 Other congenital malformations of trachea
Q323 Congenital stenosis of bronchus
Q324 Other congenital malformations of bronchus
Q330 Congenital cystic lung
Q332 Sequestration of lung
Q333 Agenesis of lung
Q334 Congenital bronchiectasis
Q335 Ectopic tissue in lung
Q336 Hypoplasia and dysplasia of lung
Q338 Other congenital malformations of lung
Q339 Congenital malformation of lung, unspecified
Q340 Anomaly of pleura
Q341 Congenital cyst of mediastinum
Q348 Other specified congenital malformations of respiratory system
Q349 Congenital malformation of respiratory system, unspecified
Q351 Cleft hard palate
Q353 Cleft soft palate
Q355 Cleft hard palate with cleft soft palate
Q359 Cleft palate, unspecified
Q360 Cleft lip, bilateral
Q361 Cleft lip, median
Q369 Cleft lip, unilateral
Q370 Cleft hard palate with bilateral cleft lip
Q371 Cleft hard palate with unilateral cleft lip
Q372 Cleft soft palate with bilateral cleft lip
Q373 Cleft soft palate with unilateral cleft lip
Q374 Cleft hard and soft palate with bilateral cleft lip
Q375 Cleft hard and soft palate with unilateral cleft lip
Q378 Unspecified cleft palate with bilateral cleft lip
Q379 Unspecified cleft palate with unilateral cleft lip
Q380 Congenital malformations of lips, not elsewhere classified
Q383 Other congenital malformations of tongue
Q384 Congenital malformations of salivary glands and ducts
Q385 Congenital malformations of palate, not elsewhere classified
Q386 Other congenital malformations of mouth
Q387 Pharyngeal pouch
Q388 Other congenital malformations of pharynx
Q390 Atresia of oesophagus without fistula
Q391 Atresia of oesophagus with tracheo-oesophageal fistula
Q392 Congenital tracheo-oesophageal fistula without atresia
Q393 Congenital stenosis and stricture of oesophagus
Q394 Oesophageal web
Q395 Congenital dilatation of oesophagus
Q396 Diverticulum of oesophagus
Q398 Other congenital malformations of oesophagus
Q399 Congenital malformation of oesophagus, unspecified
Q402 Other specified congenital malformations of stomach
Q403 Congenital malformation of stomach, unspecified
Q408 Other specified congenital malformations of upper alimentary tract
Q409 Congenital malformation of upper alimentary tract, unspecified
Q410 Congenital absence, atresia and stenosis of duodenum
Q411 Congenital absence, atresia and stenosis of jejunum
Q412 Congenital absence, atresia and stenosis of ileum
Q418 Congenital absence, atresia and stenosis of other specified parts of small intestine
Q419 Congenital absence, atresia and stenosis of small intestine, part unspecified
Q420 Congenital absence, atresia and stenosis of rectum with fistula
Q421 Congenital absence, atresia and stenosis of rectum without fistula
Q422 Congenital absence, atresia and stenosis of anus with fistula
Q423 Congenital absence, atresia and stenosis of anus without fistula
Q428 Congenital absence, atresia and stenosis of other parts of large intestine
Q429 Congenital absence, atresia and stenosis of large intestine, part unspecified
Q431 Hirschsprung disease
Q432 Other congenital functional disorders of colon
Q433 Congenital malformations of intestinal fixation
Q434 Duplication of intestine
Q435 Ectopic anus
Q436 Congenital fistula of rectum and anus
Q437 Persistent cloaca
Q438 Other specified congenital malformations of intestine
Q439 Congenital malformation of intestine, unspecified
Q440 Agenesis, aplasia and hypoplasia of gallbladder
Q441 Other congenital malformations of gallbladder
Q442 Atresia of bile ducts
Q443 Congenital stenosis and stricture of bile ducts
Q445 Other congenital malformations of bile ducts
Q446 Cystic disease of liver
Q447 Other congenital malformations of liver
Q450 Agenesis, aplasia and hypoplasia of pancreas
Q451 Annular pancreas
Q452 Congenital pancreatic cyst
Q453 Other congenital malformations of pancreas and pancreatic duct
Q458 Other specified congenital malformations of digestive system
Q459 Congenital malformation of digestive system, unspecified
Q500 Congenital absence of ovary
Q503 Other congenital malformations of ovary
Q504 Embryonic cyst of fallopian tube
Q506 Other congenital malformations of fallopian tube and broad ligament
Q510 Agenesis and aplasia of uterus
Q511 Doubling of uterus with doubling of cervix and vagina
Q512 Other doubling of uterus
Q513 Bicornate uterus
Q514 Unicornate uterus
Q515 Agenesis and aplasia of cervix
Q516 Embryonic cyst of cervix
Q517 Congenital fistulae between uterus and digestive and urinary tracts
Q518 Other congenital malformations of uterus and cervix
Q519 Congenital malformation of uterus and cervix, unspecified
Q520 Congenital absence of vagina
Q521 Doubling of vagina
Q522 Congenital rectovaginal fistula
Q524 Other congenital malformations of vagina
Q526 Congenital malformation of clitoris
Q528 Other specified congenital malformations of female genitalia
Q529 Congenital malformation of female genitalia, unspecified
Q540 Hypospadias, balanic
Q541 Hypospadias, penile
Q542 Hypospadias, penoscrotal
Q543 Hypospadias, perineal
Q548 Other hypospadias
Q549 Hypospadias, unspecified
Q550 Absence and aplasia of testis
Q551 Hypoplasia of testis and scrotum
Q552 Other congenital malformations of testis and scrotum
Q553 Atresia of vas deferens
Q554 Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate
Q555 Congenital absence and aplasia of penis
Q556 Other congenital malformations of penis
Q558 Other specified congenital malformations of male genital organs
Q559 Congenital malformation of male genital organ, unspecified
Q560 Hermaphroditism, not elsewhere classified
Q561 Male pseudohermaphroditism, not elsewhere classified
Q562 Female pseudohermaphroditism, not elsewhere classified
Q563 Pseudohermaphroditism, unspecified
Q564 Indeterminate sex, unspecified
Q600 Renal agenesis, unilateral
Q601 Renal agenesis, bilateral
Q602 Renal agenesis, unspecified
Q603 Renal hypoplasia, unilateral
Q604 Renal hypoplasia, bilateral
Q605 Renal hypoplasia, unspecified
Q606 Potter syndrome
Q611 Polycystic kidney, autosomal recessive
Q612 Polycystic kidney, autosomal dominant
Q613 Polycystic kidney, unspecified
Q614 Renal dysplasia
Q615 Medullary cystic kidney
Q618 Other cystic kidney diseases
Q619 Cystic kidney disease, unspecified
Q620 Congenital hydronephrosis
Q621 Atresia and stenosis of ureter
Q622 Congenital megaloureter
Q623 Other obstructive defects of renal pelvis and ureter
Q624 Agenesis of ureter
Q625 Duplication of ureter
Q626 Malposition of ureter
Q628 Other congenital malformations of ureter
Q630 Accessory kidney
Q631 Lobulated, fused and horseshoe kidney
Q632 Ectopic kidney
Q638 Other specified congenital malformations of kidney
Q639 Congenital malformation of kidney, unspecified
Q640 Epispadias
Q641 Exstrophy of urinary bladder
Q642 Congenital posterior urethral valves
Q643 Other atresia and stenosis of urethra and bladder neck
Q644 Malformation of urachus
Q645 Congenital absence of bladder and urethra
Q646 Congenital diverticulum of bladder
Q647 Other congenital malformations of bladder and urethra
Q648 Other specified congenital malformations of urinary system
Q649 Congenital malformation of urinary system, unspecified
Q650 Congenital dislocation of hip, unilateral
Q651 Congenital dislocation of hip, bilateral
Q652 Congenital dislocation of hip, unspecified
Q660 Talipes equinovarus
Q676 Pectus excavatum
Q677 Pectus carinatum
Q681 Congenital deformity of hand
Q682 Congenital deformity of knee
Q688 Other specified congenital musculoskeletal deformities
Q690 Accessory finger(s)
Q691 Accessory thumb(s)
Q692 Accessory toe(s)
Q699 Polydactyly, unspecified
Q700 Fused fingers
Q701 Webbed fingers
Q702 Fused toes
Q703 Webbed toes
Q704 Polysyndactyly
Q709 Syndactyly, unspecified
Q710 Congenital complete absence of upper limb(s)
Q711 Congenital absence of upper arm and forearm with hand present
Q712 Congenital absence of both forearm and hand
Q713 Congenital absence of hand and finger(s)
Q714 Longitudinal reduction defect of radius
Q715 Longitudinal reduction defect of ulna
Q716 Lobster-claw hand
Q718 Other reduction defects of upper limb(s)
Q719 Reduction defect of upper limb, unspecified
Q720 Congenital complete absence of lower limb(s)
Q721 Congenital absence of thigh and lower leg with foot present
Q722 Congenital absence of both lower leg and foot
Q723 Congenital absence of foot and toe(s)
Q724 Longitudinal reduction defect of femur
Q725 Longitudinal reduction defect of tibia
Q726 Longitudinal reduction defect of fibula
Q727 Split foot
Q728 Other reduction defects of lower limb(s)
Q729 Reduction defect of lower limb, unspecified
Q730 Congenital absence of unspecified limb(s)
Q731 Phocomelia, unspecified limb(s)
Q738 Other reduction defects of unspecified limb(s)
Q740 Other congenital malformations of upper limb(s), including shoulder girdle
Q741 Congenital malformation of knee
Q742 Other congenital malformations of lower limb(s), including pelvic girdle
Q743 Arthrogryposis multiplex congenita
Q748 Other specified congenital malformations of limb(s)
Q749 Unspecified congenital malformation of limb(s)
Q750 Craniosynostosis
Q751 Craniofacial dysostosis
Q754 Mandibulofacial dysostosis
Q755 Oculomandibular dysostosis
Q758 Other specified congenital malformations of skull and face bones
Q759 Congenital malformation of skull and face bones, unspecified
Q761 Klippel-Feil syndrome
Q762 Congenital spondylolisthesis
Q763 Congenital scoliosis due to congenital bony malformation
Q764 Other congenital malformations of spine, not associated with scoliosis
Q766 Other congenital malformations of ribs
Q767 Congenital malformation of sternum
Q768 Other congenital malformations of bony thorax
Q769 Congenital malformation of bony thorax, unspecified
Q770 Achondrogenesis
Q771 Thanatophoric short stature
Q772 Short rib syndrome
Q773 Chondrodysplasia punctata
Q774 Achondroplasia
Q775 Dystrophic dysplasia
Q776 Chondroectodermal dysplasia
Q777 Spondyloepiphyseal dysplasia
Q778 Other osteochondrodysplasia with defects of growth of tubular bones and spine
Q779 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
Q780 Osteogenesis imperfecta
Q781 Polyostotic fibrous dysplasia
Q782 Osteopetrosis
Q783 Progressive diaphyseal dysplasia
Q784 Enchondromatosis
Q785 Metaphyseal dysplasia
Q786 Multiple congenital exostoses
Q788 Other specified osteochondrodysplasias
Q789 Osteochondrodysplasia, unspecified
Q790 Congenital diaphragmatic hernia
Q791 Other congenital malformations of diaphragm
Q792 Exomphalos
Q793 Gastroschisis
Q794 Prune belly syndrome
Q795 Other congenital malformations of abdominal wall
Q796 Ehlers-Danlos syndrome
Q798 Other congenital malformations of musculoskeletal system
Q799 Congenital malformation of musculoskeletal system, unspecified
Q800 Ichthyosis vulgaris
Q801 X-linked ichthyosis
Q802 Lamellar ichthyosis
Q803 Congenital bullous ichthyosiform erythroderma
Q804 Harlequin fetus
Q808 Other congenital ichthyosis
Q809 Congenital ichthyosis, unspecified
Q810 Epidermolysis bullosa simplex
Q811 Epidermolysis bullosa letalis
Q812 Epidermolysis bullosa dystrophica
Q818 Other epidermolysis bullosa
Q819 Epidermolysis bullosa, unspecified
Q820 Hereditary lymphoedema
Q821 Xeroderma pigmentosum
Q822 Mastocytosis
Q823 Incontinentia pigmenti
Q824 Ectodermal dysplasia (anhidrotic)
Q828 Other specified congenital malformations of skin
Q829 Congenital malformation of skin, unspecified
Q830 Congenital absence of breast with absent nipple
Q831 Accessory breast
Q832 Absent nipple
Q838 Other congenital malformations of breast
Q839 Congenital malformation of breast, unspecified
Q840 Congenital alopecia
Q841 Congenital morphological disturbances of hair, not elsewhere classified
Q842 Other congenital malformations of hair
Q843 Anonychia
Q844 Congenital leukonychia
Q848 Other specified congenital malformations of integument
Q849 Congenital malformation of integument, unspecified
Q850 Neurofibromatosis (nonmalignant)
Q851 Tuberous sclerosis
Q858 Other phakomatoses, not elsewhere classified
Q859 Phakomatosis, unspecified
Q860 Fetal alcohol syndrome (dysmorphic)
Q861 Fetal hydantoin syndrome
Q862 Dysmorphism due to warfarin
Q868 Other congenital malformation syndromes due to known exogenous causes
Q870 Congenital malformation syndromes predominantly affecting facial appearance
Q871 Congenital malformation syndromes predominantly associated with short stature
Q872 Congenital malformation syndromes predominantly involving limbs
Q873 Congenital malformation syndromes involving early overgrowth
Q874 Marfan syndrome
Q875 Other congenital malformation syndromes with other skeletal changes
Q878 Other specified congenital malformation syndromes, not elsewhere classified
Q890 Congenital malformations of spleen
Q891 Congenital malformations of adrenal gland
Q892 Congenital malformations of other endocrine glands
Q893 Situs inversus
Q894 Conjoined twins
Q897 Multiple congenital malformations, not elsewhere classified
Q898 Other specified congenital malformations
Q900 Trisomy 21, meiotic nondisjunction
Q901 Trisomy 21, mosaicism (mitotic nondisjunction)
Q902 Trisomy 21, translocation
Q909 Down syndrome, unspecified
Q910 Trisomy 18, meiotic nondisjunction
Q911 Trisomy 18, mosaicism (mitotic nondisjunction)
Q912 Trisomy 18, translocation
Q913 Edwards' syndrome, unspecified
Q914 Trisomy 13, meiotic nondisjunction
Q915 Trisomy 13, mosaicism (mitotic nondisjunction)
Q916 Trisomy 13, translocation
Q917 Patau syndrome, unspecified
Q920 Whole chromosome trisomy, meiotic nondisjunction
Q921 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
Q922 Major partial trisomy
Q923 Minor partial trisomy
Q924 Duplications seen only at prometaphase
Q925 Duplications with other complex rearrangements
Q926 Extra marker chromosomes
Q927 Triploidy and polyploidy
Q928 Other specified trisomies and partial trisomies of autosomes
Q929 Trisomy and partial trisomy of autosomes, unspecified
Q930 Whole chromosome monosomy, meiotic nondisjunction
Q931 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
Q932 Chromosome replaced with ring or dicentric
Q933 Deletion of short arm of chromosome 4
Q934 Deletion of short arm of chromosome 5
Q935 Other deletions of part of a chromosome
Q936 Deletions seen only at prometaphase
Q937 Deletions with other complex rearrangements
Q938 Other deletions from the autosomes
Q939 Deletion from autosomes, unspecified
Q960 Karyotype 45,X
Q961 Karyotype 46,X iso (Xq)
Q962 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
Q963 Mosaicism, 45,X/46,XX or XY
Q964 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
Q968 Other variants of Turner syndrome
Q969 Turner syndrome, unspecified
Q970 Karyotype 47,XXX
Q971 Female with more than three X chromosomes
Q972 Mosaicism, lines with various numbers of X chromosomes
Q973 Female with 46,XY karyotype
Q978 Other specified sex chromosome abnormalities, female phenotype
Q979 Sex chromosome abnormality, female phenotype, unspecified
Q980 Klinefelter syndrome karyotype 47,XXY
Q981 Klinefelter syndrome, male with more than two X chromosomes
Q982 Klinefelter syndrome, male with 46,XX karyotype
Q983 Other male with 46,XX karyotype
Q984 Klinefelter syndrome, unspecified
Q985 Karyotype 47,XYY
Q986 Male with structurally abnormal sex chromosome
Q987 Male with sex chromosome mosaicism
Q988 Other specified sex chromosome abnormalities, male phenotype
Q989 Sex chromosome abnormality, male phenotype, unspecified
Q990 Chimera 46,XX/46,XY
Q991 46,XX true hermaphrodite
Q992 Fragile X chromosome
Q998 Other specified chromosome abnormalities
Q999 Chromosomal abnormality, unspecified
Rows: 475
Code Description
Q000 Anencephaly
Q001 Craniorachischisis
Q002 Iniencephaly
Q010 Frontal encephalocele
Q011 Nasofrontal encephalocele
Q012 Occipital encephalocele
Q018 Encephalocele of other sites
Q019 Encephalocele, unspecified
Q02 Microcephaly
Q030 Malformations of aqueduct of Sylvius
Q031 Atresia of foramina of Magendie and Luschka
Q038 Other congenital hydrocephalus
Q039 Congenital hydrocephalus, unspecified
Q040 Congenital malformations of corpus callosum
Q041 Arhinencephaly
Q042 Holoprosencephaly
Q043 Other reduction deformities of brain
Q044 Septo-optic dysplasia
Q045 Megalencephaly
Q046 Congenital cerebral cysts
Q048 Other specified congenital malformations of brain
Q049 Congenital malformation of brain, unspecified
Q050 Cervical spina bifida with hydrocephalus
Q051 Thoracic spina bifida with hydrocephalus
Q052 Lumbar spina bifida with hydrocephalus
Q053 Sacral spina bifida with hydrocephalus
Q054 Unspecified spina bifida with hydrocephalus
Q055 Cervical spina bifida without hydrocephalus
Q056 Thoracic spina bifida without hydrocephalus
Q057 Lumbar spina bifida without hydrocephalus
Q058 Sacral spina bifida without hydrocephalus
Q059 Spina bifida, unspecified
Q060 Amyelia
Q061 Hypoplasia and dysplasia of spinal cord
Q062 Diastematomyelia
Q063 Other congenital cauda equina malformations
Q064 Hydromyelia
Q068 Other specified congenital malformations of spinal cord
Q069 Congenital malformation of spinal cord, unspecified
Q070 Arnold-Chiari syndrome
Q078 Other specified congenital malformations of nervous system
Q079 Congenital malformation of nervous system, unspecified
Q104 Absence and agenesis of lacrimal apparatus
Q107 Congenital malformation of orbit
Q110 Cystic eyeball
Q111 Other anophthalmos
Q112 Microphthalmos
Q113 Macrophthalmos
Q120 Congenital cataract
Q121 Congenital displaced lens
Q122 Coloboma of lens
Q123 Congenital aphakia
Q124 Spherophakia
Q128 Other congenital lens malformations
Q129 Congenital lens malformation, unspecified
Q130 Coloboma of iris
Q131 Absence of iris
Q132 Other congenital malformations of iris
Q133 Congenital corneal opacity
Q134 Other congenital corneal malformations
Q138 Other congenital malformations of anterior segment of eye
Q139 Congenital malformation of anterior segment of eye, unspecified
Q140 Congenital malformation of vitreous humour
Q141 Congenital malformation of retina
Q142 Congenital malformation of optic disc
Q143 Congenital malformation of choroid
Q148 Other congenital malformations of posterior segment of eye
Q149 Congenital malformation of posterior segment of eye, unspecified
Q150 Congenital glaucoma
Q158 Other specified congenital malformations of eye
Q159 Congenital malformation of eye, unspecified
Q160 Congenital absence of (ear) auricle
Q161 Congenital absence, atresia and stricture of auditory canal (external)
Q162 Absence of eustachian tube
Q163 Congenital malformation of ear ossicles
Q164 Other congenital malformations of middle ear
Q165 Congenital malformation of inner ear
Q169 Congenital malformation of ear causing impairment of hearing, unspecified
Q188 Other specified congenital malformations of face and neck
Q200 Common arterial trunk
Q201 Double outlet right ventricle
Q202 Double outlet left ventricle
Q203 Discordant ventriculoarterial connection
Q204 Double inlet ventricle
Q205 Discordant atrioventricular connection
Q206 Isomerism of atrial appendages
Q208 Other congenital malformations of cardiac chambers and connections
Q209 Congenital malformation of cardiac chambers and connections, unspecified
Q210 Ventricular septal defect
Q211 Atrial septal defect
Q212 Atrioventricular septal defect
Q213 Tetralogy of Fallot
Q214 Aortopulmonary septal defect
Q218 Other congenital malformations of cardiac septa
Q219 Congenital malformation of cardiac septum, unspecified
Q220 Pulmonary valve atresia
Q221 Congenital pulmonary valve stenosis
Q222 Congenital pulmonary valve insufficiency
Q223 Other congenital malformations of pulmonary valve
Q224 Congenital tricuspid stenosis
Q225 Ebstein anomaly
Q226 Hypoplastic right heart syndrome
Q228 Other congenital malformations of tricuspid valve
Q229 Congenital malformation of tricuspid valve, unspecified
Q230 Congenital stenosis of aortic valve
Q231 Congenital insufficiency of aortic valve
Q232 Congenital mitral stenosis
Q233 Congenital mitral insufficiency
Q234 Hypoplastic left heart syndrome
Q238 Other congenital malformations of aortic and mitral valves
Q239 Congenital malformation of aortic and mitral valves, unspecified
Q240 Dextrocardia
Q241 Laevocardia
Q242 Cor triatriatum
Q243 Pulmonary infundibular stenosis
Q244 Congenital subaortic stenosis
Q245 Malformation of coronary vessels
Q246 Congenital heart block
Q248 Other specified congenital malformations of heart
Q249 Congenital malformation of heart, unspecified
Q250 Patent ductus arteriosus
Q251 Coarctation of aorta
Q252 Atresia of aorta
Q253 Stenosis of aorta
Q254 Other congenital malformations of aorta
Q255 Atresia of pulmonary artery
Q256 Stenosis of pulmonary artery
Q257 Other congenital malformations of pulmonary artery
Q258 Other congenital malformations of great arteries
Q259 Congenital malformation of great arteries, unspecified
Q260 Congenital stenosis of vena cava
Q261 Persistent left superior vena cava
Q262 Total anomalous pulmonary venous connection
Q263 Partial anomalous pulmonary venous connection
Q264 Anomalous pulmonary venous connection, unspecified
Q265 Anomalous portal venous connection
Q266 Portal vein-hepatic artery fistula
Q268 Other congenital malformations of great veins
Q269 Congenital malformation of great vein, unspecified
Q270 Congenital absence and hypoplasia of umbilical artery
Q271 Congenital renal artery stenosis
Q272 Other congenital malformations of renal artery
Q273 Peripheral arteriovenous malformation
Q274 Congenital phlebectasia
Q278 Other specified congenital malformations of peripheral vascular system
Q279 Congenital malformation of peripheral vascular system, unspecified
Q280 Arteriovenous malformation of precerebral vessels
Q281 Other malformations of precerebral vessels
Q282 Arteriovenous malformation of cerebral vessels
Q283 Other malformations of cerebral vessels
Q288 Other specified congenital malformations of circulatory system
Q289 Congenital malformation of circulatory system, unspecified
Q300 Choanal atresia
Q301 Agenesis and underdevelopment of nose
Q302 Fissured, notched and cleft nose
Q303 Congenital perforated nasal septum
Q308 Other congenital malformations of nose
Q309 Congenital malformation of nose, unspecified
Q310 Web of larynx
Q311 Congenital subglottic stenosis
Q312 Laryngeal hypoplasia
Q313 Laryngocele
Q315 Congenital laryngomalacia
Q318 Other congenital malformations of larynx
Q319 Congenital malformation of larynx, unspecified
Q320 Congenital tracheomalacia
Q321 Other congenital malformations of trachea
Q322 Congenital bronchomalacia
Q323 Congenital stenosis of bronchus
Q324 Other congenital malformations of bronchus
Q330 Congenital cystic lung
Q331 Accessory lobe of lung
Q332 Sequestration of lung
Q333 Agenesis of lung
Q334 Congenital bronchiectasis
Q335 Ectopic tissue in lung
Q336 Hypoplasia and dysplasia of lung
Q338 Other congenital malformations of lung
Q339 Congenital malformation of lung, unspecified
Q340 Anomaly of pleura
Q341 Congenital cyst of mediastinum
Q348 Other specified congenital malformations of respiratory system
Q349 Congenital malformation of respiratory system, unspecified
Q351 Cleft hard palate
Q353 Cleft soft palate
Q355 Cleft hard palate with cleft soft palate
Q357 Cleft uvula
Q359 Cleft palate, unspecified
Q360 Cleft lip, bilateral
Q361 Cleft lip, median
Q369 Cleft lip, unilateral
Q370 Cleft hard palate with bilateral cleft lip
Q371 Cleft hard palate with unilateral cleft lip
Q372 Cleft soft palate with bilateral cleft lip
Q373 Cleft soft palate with unilateral cleft lip
Q374 Cleft hard and soft palate with bilateral cleft lip
Q375 Cleft hard and soft palate with unilateral cleft lip
Q378 Unspecified cleft palate with bilateral cleft lip
Q379 Unspecified cleft palate with unilateral cleft lip
Q380 Congenital malformations of lips, not elsewhere classified
Q383 Other congenital malformations of tongue
Q384 Congenital malformations of salivary glands and ducts
Q386 Other congenital malformations of mouth
Q387 Pharyngeal pouch
Q388 Other congenital malformations of pharynx
Q390 Atresia of oesophagus without fistula
Q391 Atresia of oesophagus with tracheo-oesophageal fistula
Q392 Congenital tracheo-oesophageal fistula without atresia
Q393 Congenital stenosis and stricture of oesophagus
Q394 Oesophageal web
Q395 Congenital dilatation of oesophagus
Q396 Diverticulum of oesophagus
Q398 Other congenital malformations of oesophagus
Q399 Congenital malformation of oesophagus, unspecified
Q402 Other specified congenital malformations of stomach
Q403 Congenital malformation of stomach, unspecified
Q408 Other specified congenital malformations of upper alimentary tract
Q409 Congenital malformation of upper alimentary tract, unspecified
Q410 Congenital absence, atresia and stenosis of duodenum
Q411 Congenital absence, atresia and stenosis of jejunum
Q412 Congenital absence, atresia and stenosis of ileum
Q418 Congenital absence, atresia and stenosis of other specified parts of small intestine
Q419 Congenital absence, atresia and stenosis of small intestine, part unspecified
Q420 Congenital absence, atresia and stenosis of rectum with fistula
Q421 Congenital absence, atresia and stenosis of rectum without fistula
Q422 Congenital absence, atresia and stenosis of anus with fistula
Q423 Congenital absence, atresia and stenosis of anus without fistula
Q428 Congenital absence, atresia and stenosis of other parts of large intestine
Q429 Congenital absence, atresia and stenosis of large intestine, part unspecified
Q431 Hirschsprung disease
Q433 Congenital malformations of intestinal fixation
Q434 Duplication of intestine
Q435 Ectopic anus
Q436 Congenital fistula of rectum and anus
Q437 Persistent cloaca
Q439 Congenital malformation of intestine, unspecified
Q440 Agenesis, aplasia and hypoplasia of gallbladder
Q441 Other congenital malformations of gallbladder
Q442 Atresia of bile ducts
Q443 Congenital stenosis and stricture of bile ducts
Q444 Choledochal cyst
Q445 Other congenital malformations of bile ducts
Q446 Cystic disease of liver
Q447 Other congenital malformations of liver
Q450 Agenesis, aplasia and hypoplasia of pancreas
Q451 Annular pancreas
Q452 Congenital pancreatic cyst
Q453 Other congenital malformations of pancreas and pancreatic duct
Q458 Other specified congenital malformations of digestive system
Q459 Congenital malformation of digestive system, unspecified
Q500 Congenital absence of ovary
Q510 Agenesis and aplasia of uterus
Q511 Doubling of uterus with doubling of cervix and vagina
Q512 Other doubling of uterus
Q513 Bicornate uterus
Q514 Unicornate uterus
Q515 Agenesis and aplasia of cervix
Q516 Embryonic cyst of cervix
Q517 Congenital fistulae between uterus and digestive and urinary tracts
Q518 Other congenital malformations of uterus and cervix
Q519 Congenital malformation of uterus and cervix, unspecified
Q520 Congenital absence of vagina
Q521 Doubling of vagina
Q522 Congenital rectovaginal fistula
Q524 Other congenital malformations of vagina
Q540 Hypospadias, balanic
Q541 Hypospadias, penile
Q542 Hypospadias, penoscrotal
Q543 Hypospadias, perineal
Q548 Other hypospadias
Q549 Hypospadias, unspecified
Q550 Absence and aplasia of testis
Q555 Congenital absence and aplasia of penis
Q560 Hermaphroditism, not elsewhere classified
Q561 Male pseudohermaphroditism, not elsewhere classified
Q562 Female pseudohermaphroditism, not elsewhere classified
Q563 Pseudohermaphroditism, unspecified
Q564 Indeterminate sex, unspecified
Q601 Renal agenesis, bilateral
Q602 Renal agenesis, unspecified
Q604 Renal hypoplasia, bilateral
Q605 Renal hypoplasia, unspecified
Q606 Potter syndrome
Q610 Congenital single renal cyst
Q611 Polycystic kidney, autosomal recessive
Q612 Polycystic kidney, autosomal dominant
Q613 Polycystic kidney, unspecified
Q614 Renal dysplasia
Q615 Medullary cystic kidney
Q618 Other cystic kidney diseases
Q619 Cystic kidney disease, unspecified
Q620 Congenital hydronephrosis
Q621 Atresia and stenosis of ureter
Q622 Congenital megaloureter
Q623 Other obstructive defects of renal pelvis and ureter
Q624 Agenesis of ureter
Q625 Duplication of ureter
Q626 Malposition of ureter
Q628 Other congenital malformations of ureter
Q630 Accessory kidney
Q631 Lobulated, fused and horseshoe kidney
Q632 Ectopic kidney
Q638 Other specified congenital malformations of kidney
Q639 Congenital malformation of kidney, unspecified
Q640 Epispadias
Q641 Exstrophy of urinary bladder
Q642 Congenital posterior urethral valves
Q643 Other atresia and stenosis of urethra and bladder neck
Q644 Malformation of urachus
Q645 Congenital absence of bladder and urethra
Q646 Congenital diverticulum of bladder
Q647 Other congenital malformations of bladder and urethra
Q648 Other specified congenital malformations of urinary system
Q649 Congenital malformation of urinary system, unspecified
Q650 Congenital dislocation of hip, unilateral
Q651 Congenital dislocation of hip, bilateral
Q652 Congenital dislocation of hip, unspecified
Q658 Other congenital deformities of hip
Q659 Congenital deformity of hip, unspecified
Q675 Congenital deformity of spine
Q682 Congenital deformity of knee
Q683 Congenital bowing of femur
Q684 Congenital bowing of tibia and fibula
Q685 Congenital bowing of long bones of leg, unspecified
Q710 Congenital complete absence of upper limb(s)
Q711 Congenital absence of upper arm and forearm with hand present
Q712 Congenital absence of both forearm and hand
Q713 Congenital absence of hand and finger(s)
Q714 Longitudinal reduction defect of radius
Q715 Longitudinal reduction defect of ulna
Q716 Lobster-claw hand
Q718 Other reduction defects of upper limb(s)
Q719 Reduction defect of upper limb, unspecified
Q720 Congenital complete absence of lower limb(s)
Q721 Congenital absence of thigh and lower leg with foot present
Q722 Congenital absence of both lower leg and foot
Q723 Congenital absence of foot and toe(s)
Q724 Longitudinal reduction defect of femur
Q725 Longitudinal reduction defect of tibia
Q726 Longitudinal reduction defect of fibula
Q727 Split foot
Q728 Other reduction defects of lower limb(s)
Q729 Reduction defect of lower limb, unspecified
Q730 Congenital absence of unspecified limb(s)
Q731 Phocomelia, unspecified limb(s)
Q738 Other reduction defects of unspecified limb(s)
Q740 Other congenital malformations of upper limb(s), including shoulder girdle
Q741 Congenital malformation of knee
Q742 Other congenital malformations of lower limb(s), including pelvic girdle
Q743 Arthrogryposis multiplex congenita
Q748 Other specified congenital malformations of limb(s)
Q749 Unspecified congenital malformation of limb(s)
Q750 Craniosynostosis
Q751 Craniofacial dysostosis
Q753 Macrocephaly
Q754 Mandibulofacial dysostosis
Q755 Oculomandibular dysostosis
Q758 Other specified congenital malformations of skull and face bones
Q759 Congenital malformation of skull and face bones, unspecified
Q761 Klippel-Feil syndrome
Q762 Congenital spondylolisthesis
Q763 Congenital scoliosis due to congenital bony malformation
Q764 Other congenital malformations of spine, not associated with scoliosis
Q770 Achondrogenesis
Q771 Thanatophoric short stature
Q772 Short rib syndrome
Q773 Chondrodysplasia punctata
Q774 Achondroplasia
Q775 Dystrophic dysplasia
Q776 Chondroectodermal dysplasia
Q777 Spondyloepiphyseal dysplasia
Q778 Other osteochondrodysplasia with defects of growth of tubular bones and spine
Q779 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
Q780 Osteogenesis imperfecta
Q781 Polyostotic fibrous dysplasia
Q782 Osteopetrosis
Q783 Progressive diaphyseal dysplasia
Q784 Enchondromatosis
Q785 Metaphyseal dysplasia
Q786 Multiple congenital exostoses
Q788 Other specified osteochondrodysplasias
Q789 Osteochondrodysplasia, unspecified
Q790 Congenital diaphragmatic hernia
Q792 Exomphalos
Q793 Gastroschisis
Q794 Prune belly syndrome
Q795 Other congenital malformations of abdominal wall
Q796 Ehlers-Danlos syndrome
Q798 Other congenital malformations of musculoskeletal system
Q800 Ichthyosis vulgaris
Q801 X-linked ichthyosis
Q802 Lamellar ichthyosis
Q803 Congenital bullous ichthyosiform erythroderma
Q804 Harlequin fetus
Q808 Other congenital ichthyosis
Q809 Congenital ichthyosis, unspecified
Q810 Epidermolysis bullosa simplex
Q811 Epidermolysis bullosa letalis
Q812 Epidermolysis bullosa dystrophica
Q818 Other epidermolysis bullosa
Q819 Epidermolysis bullosa, unspecified
Q820 Hereditary lymphoedema
Q821 Xeroderma pigmentosum
Q822 Mastocytosis
Q823 Incontinentia pigmenti
Q824 Ectodermal dysplasia (anhidrotic)
Q829 Congenital malformation of skin, unspecified
Q850 Neurofibromatosis (nonmalignant)
Q851 Tuberous sclerosis
Q858 Other phakomatoses, not elsewhere classified
Q859 Phakomatosis, unspecified
Q860 Fetal alcohol syndrome (dysmorphic)
Q861 Fetal hydantoin syndrome
Q862 Dysmorphism due to warfarin
Q868 Other congenital malformation syndromes due to known exogenous causes
Q870 Congenital malformation syndromes predominantly affecting facial appearance
Q871 Congenital malformation syndromes predominantly associated with short stature
Q872 Congenital malformation syndromes predominantly involving limbs
Q873 Congenital malformation syndromes involving early overgrowth
Q874 Marfan syndrome
Q875 Other congenital malformation syndromes with other skeletal changes
Q878 Other specified congenital malformation syndromes, not elsewhere classified
Q891 Congenital malformations of adrenal gland
Q892 Congenital malformations of other endocrine glands
Q893 Situs inversus
Q894 Conjoined twins
Q897 Multiple congenital malformations, not elsewhere classified
Q898 Other specified congenital malformations
Q899 Congenital malformation, unspecified
Q900 Trisomy 21, meiotic nondisjunction
Q901 Trisomy 21, mosaicism (mitotic nondisjunction)
Q902 Trisomy 21, translocation
Q909 Down syndrome, unspecified
Q910 Trisomy 18, meiotic nondisjunction
Q911 Trisomy 18, mosaicism (mitotic nondisjunction)
Q912 Trisomy 18, translocation
Q913 Edwards' syndrome, unspecified
Q914 Trisomy 13, meiotic nondisjunction
Q915 Trisomy 13, mosaicism (mitotic nondisjunction)
Q916 Trisomy 13, translocation
Q917 Patau syndrome, unspecified
Q920 Whole chromosome trisomy, meiotic nondisjunction
Q921 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
Q922 Major partial trisomy
Q923 Minor partial trisomy
Q924 Duplications seen only at prometaphase
Q925 Duplications with other complex rearrangements
Q926 Extra marker chromosomes
Q927 Triploidy and polyploidy
Q928 Other specified trisomies and partial trisomies of autosomes
Q929 Trisomy and partial trisomy of autosomes, unspecified
Q930 Whole chromosome monosomy, meiotic nondisjunction
Q931 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
Q932 Chromosome replaced with ring or dicentric
Q933 Deletion of short arm of chromosome 4
Q934 Deletion of short arm of chromosome 5
Q935 Other deletions of part of a chromosome
Q936 Deletions seen only at prometaphase
Q937 Deletions with other complex rearrangements
Q938 Other deletions from the autosomes
Q939 Deletion from autosomes, unspecified
Q952 Balanced autosomal rearrangement in abnormal individual
Q953 Balanced sex/autosomal rearrangement in abnormal individual
Q970 Karyotype 47,XXX
Q971 Female with more than three X chromosomes
Q972 Mosaicism, lines with various numbers of X chromosomes
Q973 Female with 46,XY karyotype
Q978 Other specified sex chromosome abnormalities, female phenotype
Q979 Sex chromosome abnormality, female phenotype, unspecified
Q980 Klinefelter syndrome karyotype 47,XXY
Q990 Chimera 46,XX/46,XY
Q991 46,XX true hermaphrodite
Q992 Fragile X chromosome
Q998 Other specified chromosome abnormalities
Q999 Chromosomal abnormality, unspecified
Rows: 296
Code Description
Q000 Anencephaly
Q001 Craniorachischisis
Q002 Iniencephaly
Q010 Frontal encephalocele
Q011 Nasofrontal encephalocele
Q012 Occipital encephalocele
Q018 Encephalocele of other sites
Q019 Encephalocele, unspecified
Q02 Microcephaly
Q030 Malformations of aqueduct of Sylvius
Q031 Atresia of foramina of Magendie and Luschka
Q038 Other congenital hydrocephalus
Q039 Congenital hydrocephalus, unspecified
Q040 Congenital malformations of corpus callosum
Q041 Arhinencephaly
Q042 Holoprosencephaly
Q043 Other reduction deformities of brain
Q044 Septo-optic dysplasia
Q045 Megalencephaly
Q046 Congenital cerebral cysts
Q048 Other specified congenital malformations of brain
Q049 Congenital malformation of brain, unspecified
Q050 Cervical spina bifida with hydrocephalus
Q051 Thoracic spina bifida with hydrocephalus
Q052 Lumbar spina bifida with hydrocephalus
Q053 Sacral spina bifida with hydrocephalus
Q054 Unspecified spina bifida with hydrocephalus
Q055 Cervical spina bifida without hydrocephalus
Q056 Thoracic spina bifida without hydrocephalus
Q057 Lumbar spina bifida without hydrocephalus
Q058 Sacral spina bifida without hydrocephalus
Q059 Spina bifida, unspecified
Q060 Amyelia
Q061 Hypoplasia and dysplasia of spinal cord
Q062 Diastematomyelia
Q063 Other congenital cauda equina malformations
Q064 Hydromyelia
Q068 Other specified congenital malformations of spinal cord
Q069 Congenital malformation of spinal cord, unspecified
Q070 Arnold-Chiari syndrome
Q078 Other specified congenital malformations of nervous system
Q079 Congenital malformation of nervous system, unspecified
Q200 Common arterial trunk
Q201 Double outlet right ventricle
Q202 Double outlet left ventricle
Q203 Discordant ventriculoarterial connection
Q204 Double inlet ventricle
Q205 Discordant atrioventricular connection
Q206 Isomerism of atrial appendages
Q208 Other congenital malformations of cardiac chambers and connections
Q209 Congenital malformation of cardiac chambers and connections, unspecified
Q212 Atrioventricular septal defect
Q213 Tetralogy of Fallot
Q214 Aortopulmonary septal defect
Q218 Other congenital malformations of cardiac septa
Q219 Congenital malformation of cardiac septum, unspecified
Q220 Pulmonary valve atresia
Q221 Congenital pulmonary valve stenosis
Q222 Congenital pulmonary valve insufficiency
Q223 Other congenital malformations of pulmonary valve
Q224 Congenital tricuspid stenosis
Q225 Ebstein anomaly
Q226 Hypoplastic right heart syndrome
Q228 Other congenital malformations of tricuspid valve
Q229 Congenital malformation of tricuspid valve, unspecified
Q230 Congenital stenosis of aortic valve
Q231 Congenital insufficiency of aortic valve
Q232 Congenital mitral stenosis
Q233 Congenital mitral insufficiency
Q234 Hypoplastic left heart syndrome
Q238 Other congenital malformations of aortic and mitral valves
Q239 Congenital malformation of aortic and mitral valves, unspecified
Q240 Dextrocardia
Q241 Laevocardia
Q242 Cor triatriatum
Q243 Pulmonary infundibular stenosis
Q244 Congenital subaortic stenosis
Q245 Malformation of coronary vessels
Q246 Congenital heart block
Q248 Other specified congenital malformations of heart
Q249 Congenital malformation of heart, unspecified
Q251 Coarctation of aorta
Q252 Atresia of aorta
Q253 Stenosis of aorta
Q254 Other congenital malformations of aorta
Q255 Atresia of pulmonary artery
Q256 Stenosis of pulmonary artery
Q257 Other congenital malformations of pulmonary artery
Q258 Other congenital malformations of great arteries
Q259 Congenital malformation of great arteries, unspecified
Q260 Congenital stenosis of vena cava
Q261 Persistent left superior vena cava
Q262 Total anomalous pulmonary venous connection
Q263 Partial anomalous pulmonary venous connection
Q264 Anomalous pulmonary venous connection, unspecified
Q265 Anomalous portal venous connection
Q266 Portal vein-hepatic artery fistula
Q268 Other congenital malformations of great veins
Q269 Congenital malformation of great vein, unspecified
Q282 Arteriovenous malformation of cerebral vessels
Q283 Other malformations of cerebral vessels
Q289 Congenital malformation of circulatory system, unspecified
Q300 Choanal atresia
Q301 Agenesis and underdevelopment of nose
Q302 Fissured, notched and cleft nose
Q303 Congenital perforated nasal septum
Q308 Other congenital malformations of nose
Q309 Congenital malformation of nose, unspecified
Q310 Web of larynx
Q311 Congenital subglottic stenosis
Q312 Laryngeal hypoplasia
Q313 Laryngocele
Q315 Congenital laryngomalacia
Q318 Other congenital malformations of larynx
Q319 Congenital malformation of larynx, unspecified
Q320 Congenital tracheomalacia
Q321 Other congenital malformations of trachea
Q322 Congenital bronchomalacia
Q323 Congenital stenosis of bronchus
Q324 Other congenital malformations of bronchus
Q330 Congenital cystic lung
Q331 Accessory lobe of lung
Q332 Sequestration of lung
Q333 Agenesis of lung
Q334 Congenital bronchiectasis
Q335 Ectopic tissue in lung
Q336 Hypoplasia and dysplasia of lung
Q338 Other congenital malformations of lung
Q339 Congenital malformation of lung, unspecified
Q340 Anomaly of pleura
Q341 Congenital cyst of mediastinum
Q348 Other specified congenital malformations of respiratory system
Q349 Congenital malformation of respiratory system, unspecified
Q390 Atresia of oesophagus without fistula
Q391 Atresia of oesophagus with tracheo-oesophageal fistula
Q392 Congenital tracheo-oesophageal fistula without atresia
Q393 Congenital stenosis and stricture of oesophagus
Q394 Oesophageal web
Q410 Congenital absence, atresia and stenosis of duodenum
Q411 Congenital absence, atresia and stenosis of jejunum
Q412 Congenital absence, atresia and stenosis of ileum
Q418 Congenital absence, atresia and stenosis of other specified parts of small intestine
Q419 Congenital absence, atresia and stenosis of small intestine, part unspecified
Q420 Congenital absence, atresia and stenosis of rectum with fistula
Q421 Congenital absence, atresia and stenosis of rectum without fistula
Q422 Congenital absence, atresia and stenosis of anus with fistula
Q423 Congenital absence, atresia and stenosis of anus without fistula
Q428 Congenital absence, atresia and stenosis of other parts of large intestine
Q429 Congenital absence, atresia and stenosis of large intestine, part unspecified
Q430 Meckel diverticulum
Q431 Hirschsprung disease
Q432 Other congenital functional disorders of colon
Q433 Congenital malformations of intestinal fixation
Q434 Duplication of intestine
Q435 Ectopic anus
Q436 Congenital fistula of rectum and anus
Q437 Persistent cloaca
Q438 Other specified congenital malformations of intestine
Q439 Congenital malformation of intestine, unspecified
Q440 Agenesis, aplasia and hypoplasia of gallbladder
Q441 Other congenital malformations of gallbladder
Q442 Atresia of bile ducts
Q443 Congenital stenosis and stricture of bile ducts
Q444 Choledochal cyst
Q445 Other congenital malformations of bile ducts
Q446 Cystic disease of liver
Q447 Other congenital malformations of liver
Q450 Agenesis, aplasia and hypoplasia of pancreas
Q451 Annular pancreas
Q452 Congenital pancreatic cyst
Q453 Other congenital malformations of pancreas and pancreatic duct
Q458 Other specified congenital malformations of digestive system
Q459 Congenital malformation of digestive system, unspecified
Q600 Renal agenesis, unilateral
Q601 Renal agenesis, bilateral
Q602 Renal agenesis, unspecified
Q603 Renal hypoplasia, unilateral
Q604 Renal hypoplasia, bilateral
Q605 Renal hypoplasia, unspecified
Q606 Potter syndrome
Q610 Congenital single renal cyst
Q611 Polycystic kidney, autosomal recessive
Q612 Polycystic kidney, autosomal dominant
Q613 Polycystic kidney, unspecified
Q614 Renal dysplasia
Q615 Medullary cystic kidney
Q618 Other cystic kidney diseases
Q619 Cystic kidney disease, unspecified
Q620 Congenital hydronephrosis
Q621 Atresia and stenosis of ureter
Q622 Congenital megaloureter
Q623 Other obstructive defects of renal pelvis and ureter
Q624 Agenesis of ureter
Q625 Duplication of ureter
Q626 Malposition of ureter
Q627 Congenital vesico-uretero-renal reflux
Q628 Other congenital malformations of ureter
Q630 Accessory kidney
Q631 Lobulated, fused and horseshoe kidney
Q632 Ectopic kidney
Q633 Hyperplastic and giant kidney
Q638 Other specified congenital malformations of kidney
Q639 Congenital malformation of kidney, unspecified
Q640 Epispadias
Q641 Exstrophy of urinary bladder
Q642 Congenital posterior urethral valves
Q643 Other atresia and stenosis of urethra and bladder neck
Q644 Malformation of urachus
Q645 Congenital absence of bladder and urethra
Q646 Congenital diverticulum of bladder
Q647 Other congenital malformations of bladder and urethra
Q648 Other specified congenital malformations of urinary system
Q649 Congenital malformation of urinary system, unspecified
Q722 Congenital absence of both lower leg and foot
Q750 Craniosynostosis
Q752 Hypertelorism
Q759 Congenital malformation of skull and face bones, unspecified
Q760 Spina bifida occulta
Q761 Klippel-Feil syndrome
Q762 Congenital spondylolisthesis
Q764 Other congenital malformations of spine, not associated with scoliosis
Q765 Cervical rib
Q766 Other congenital malformations of ribs
Q767 Congenital malformation of sternum
Q770 Achondrogenesis
Q771 Thanatophoric short stature
Q772 Short rib syndrome
Q773 Chondrodysplasia punctata
Q774 Achondroplasia
Q775 Dystrophic dysplasia
Q776 Chondroectodermal dysplasia
Q777 Spondyloepiphyseal dysplasia
Q778 Other osteochondrodysplasia with defects of growth of tubular bones and spine
Q779 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
Q780 Osteogenesis imperfecta
Q781 Polyostotic fibrous dysplasia
Q782 Osteopetrosis
Q783 Progressive diaphyseal dysplasia
Q784 Enchondromatosis
Q788 Other specified osteochondrodysplasias
Q789 Osteochondrodysplasia, unspecified
Q790 Congenital diaphragmatic hernia
Q791 Other congenital malformations of diaphragm
Q792 Exomphalos
Q793 Gastroschisis
Q794 Prune belly syndrome
Q795 Other congenital malformations of abdominal wall
Q799 Congenital malformation of musculoskeletal system, unspecified
Q810 Epidermolysis bullosa simplex
Q811 Epidermolysis bullosa letalis
Q812 Epidermolysis bullosa dystrophica
Q818 Other epidermolysis bullosa
Q819 Epidermolysis bullosa, unspecified
Q851 Tuberous sclerosis
Q871 Congenital malformation syndromes predominantly associated with short stature
Q872 Congenital malformation syndromes predominantly involving limbs
Q873 Congenital malformation syndromes involving early overgrowth
Q878 Other specified congenital malformation syndromes, not elsewhere classified
Q897 Multiple congenital malformations, not elsewhere classified
Q899 Congenital malformation, unspecified
Q909 Down syndrome, unspecified
Q913 Edwards' syndrome, unspecified
Q914 Trisomy 13, meiotic nondisjunction
Q917 Patau syndrome, unspecified
Q928 Other specified trisomies and partial trisomies of autosomes
Q930 Whole chromosome monosomy, meiotic nondisjunction
Q931 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
Q932 Chromosome replaced with ring or dicentric
Q933 Deletion of short arm of chromosome 4
Q934 Deletion of short arm of chromosome 5
Q935 Other deletions of part of a chromosome
Q936 Deletions seen only at prometaphase
Q937 Deletions with other complex rearrangements
Q938 Other deletions from the autosomes
Q939 Deletion from autosomes, unspecified
Q950 Balanced translocation and insertion in normal individual
Q969 Turner syndrome, unspecified
Q970 Karyotype 47,XXX
Q971 Female with more than three X chromosomes
Q972 Mosaicism, lines with various numbers of X chromosomes
Q973 Female with 46,XY karyotype
Q978 Other specified sex chromosome abnormalities, female phenotype
Q979 Sex chromosome abnormality, female phenotype, unspecified
Q980 Klinefelter syndrome karyotype 47,XXY
Q981 Klinefelter syndrome, male with more than two X chromosomes
Q982 Klinefelter syndrome, male with 46,XX karyotype
Q983 Other male with 46,XX karyotype
Q984 Klinefelter syndrome, unspecified
Q985 Karyotype 47,XYY
Q986 Male with structurally abnormal sex chromosome
Q987 Male with sex chromosome mosaicism
Q988 Other specified sex chromosome abnormalities, male phenotype
Q989 Sex chromosome abnormality, male phenotype, unspecified
Q992 Fragile X chromosome
Q998 Other specified chromosome abnormalities
Q999 Chromosomal abnormality, unspecified

API

To Export Phenotype Details:

Format API
XML site_root/api/v1/public/phenotypes/PH30/version/60/detail/?format=xml
JSON site_root/api/v1/public/phenotypes/PH30/version/60/detail/?format=json
R Package

# Download here

library(ConceptLibraryClient)


# Connect to API

client = connect_to_API(public=TRUE