ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities

International Statistical Classification of Diseases and Related Health Problems 10th Revision
Chapter	Blocks	Title
I	A00–B99	Certain infectious and parasitic diseases
II	C00–D48	Neoplasms
III	D50–D89	Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
IV	E00–E90	Endocrine, nutritional and metabolic diseases
V	F00–F99	Mental and behavioural disorders
VI	G00–G99	Diseases of the nervous system
VII	H00–H59	Diseases of the eye and adnexa
VIII	H60–H95	Diseases of the ear and mastoid process
IX	I00–I99	Diseases of the circulatory system
X	J00–J99	Diseases of the respiratory system
XI	K00–K93	Diseases of the digestive system
XII	L00–L99	Diseases of the skin and subcutaneous tissue
XIII	M00–M99	Diseases of the musculoskeletal system and connective tissue
XIV	N00–N99	Diseases of the genitourinary system
XV	O00–O99	Pregnancy, childbirth and the puerperium
XVI	P00–P96	Certain conditions originating in the perinatal period
XVII	Q00–Q99	Congenital malformations, deformations and chromosomal abnormalities
XVIII	R00–R99	Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified
XIX	S00–T98	Injury, poisoning and certain other consequences of external causes
XX	V01–Y98	External causes of morbidity and mortality
XXI	Z00–Z99	Factors influencing health status and contact with health services
XXII	U00–U99	Codes for special purposes

The

Categories

Medical manuals

Chromosome abnormalities (Q90–Q99, 758)

Autosomal

Trisomies	Down syndrome 21 Edwards syndrome 18 Patau syndrome 13 Trisomy 9 Warkany syndrome 2 8 Cat eye syndrome/Trisomy 22 22 Trisomy 16

Monosomies/deletions	1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome 1 Wolf–Hirschhorn syndrome 4 Cri du chat/Chromosome 5q deletion syndrome 5 Williams syndrome 7 Jacobsen syndrome 11 Miller–Dieker syndrome/Smith–Magenis syndrome 17 DiGeorge syndrome 22 22q11.2 distal deletion syndrome 22 22q13 deletion syndrome 22 genomic imprinting Angelman syndrome/Prader–Willi syndrome (15) Distal 18q-/Proximal 18q-

X/Y linked

Monosomy	Turner syndrome (45,X)

Trisomy/tetrasomy, other karyotypes/mosaics	Klinefelter syndrome (47,XXY) 48,XXYY 48,XXXY 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) 48,XXXX 49,XXXXX 47,XYY 48,XYYY 49,XYYYY 45,X/46,XY

Translocations

Leukemia/lymphoma

Lymphoid	Burkitt's lymphoma t(8 MYC;14 IGH) Follicular lymphoma t(14 IGH;18 BCL2) Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH) Anaplastic large cell lymphoma t(2 ALK;5 NPM1) Acute lymphoblastic leukemia

Myeloid	Philadelphia chromosome t(9 ABL; 22 BCR) Acute myeloblastic leukemia with maturation t(8 RUNX1T1;21 RUNX1) Acute promyelocytic leukemia t(15 PML,17 RARA) Acute megakaryoblastic leukemia t(1 RBM15;22 MKL1)

Other

Ewing's sarcoma t(11 FLI1; 22 EWS)
Synovial sarcoma t(x SYT;18 SSX)
Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB)
Myxoid liposarcoma t(12 DDIT3; 16 FUS)
Desmoplastic small round cell tumor t(11 WT1; 22 EWS)
Alveolar rhabdomyosarcoma t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1)

Other

Index of developmental medicine

Description	Embryology Cell lines

Disease

Twin conditions (Q89.3–Q89.4, 759.3–759.4)

Zygosity

Monochorionic twins

Conjoined twins

Parasitic twin (Craniopagus parasiticus, Fetus in fetu)

Other

Index of developmental medicine

Description	Embryology Cell lines

Disease

Congenital endocrine disorders (Q89.1–Q89.2, 759.1–759.2)

Pituitary

Congenital hypopituitarism

Thyroid

Parathyroid

Congenital absence of parathyroid

Adrenal

Absent adrenal gland

Index of hormones

Description	thyroid

Disease

Treatment	Drugs

Q89.0/Q89.2, 759.0/759.2)

Thymus

Thymic hypoplasia
- DiGeorge syndrome
Ectopic thymus

Spleen

Index of the lymphatic system

Description

Disease

Treatment

Congenital abnormality syndromes (Q87, 759.7)

Craniofacial

Acrocephalosyndactylia Apert syndrome/Pfeiffer syndrome Saethre–Chotzen syndrome Carpenter syndrome Sakati–Nyhan–Tisdale syndrome

other:	Möbius syndrome Goldenhar syndrome Cyclopia Baller–Gerold syndrome

Short stature

Limbs

Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome

Gastrulation/mesoderm:	Caudal regression syndrome ectromelia Sirenomelia VACTERL association

Overgrowth

Laurence–Moon–Bardet–Biedl

Combined/other,
known locus

2 (Feingold syndrome)
3 (Zimmermann–Laband syndrome)
4/13 (Fraser syndrome)
8 (Branchio-oto-renal syndrome, CHARGE syndrome)
12 (Keutel syndrome, Timothy syndrome)
15 (Marfan syndrome)
19 (Donohue syndrome)
Multiple
- Fryns syndrome

Index of developmental medicine

Description	Embryology Cell lines

Disease

Congenital malformation due to exogenous toxicity (Q86, 760.7)

Alcohol

Other

Index of developmental medicine

Description	Embryology Cell lines

Disease

Phakomatosis (Q85, 759.5–759.6)

Neurofibromatosis	Type I Type II

Angiomatosis	Sturge–Weber syndrome Von Hippel–Lindau disease

Hamartoma	Tuberous sclerosis Hypothalamic hamartoma (Pallister–Hall syndrome) Multiple hamartoma syndrome Proteus syndrome Cowden syndrome Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease

Other	Abdallat–Davis–Farrage syndrome Ataxia telangiectasia Incontinentia pigmenti Peutz–Jeghers syndrome

Congenital malformations and deformations of the breast (Q83, 757.6)

Breast

Nipple

Index of the breast

Description

Disease

Treatment

Congenital malformations and deformations of skin appendages (Q84, 757.4–757.5)

Nail disease

Hair disease

hypotrichosis/abnormalities: keratin disease
- Monilethrix
IBIDS syndrome
Sabinas brittle hair syndrome
Pili annulati
Pili torti
Uncombable hair syndrome
Björnstad syndrome
Giant axonal neuropathy with curly hair

hypertrichosis: Zimmermann–Laband syndrome

Index of skin appendages

Description

Disease

Treatment

Congenital malformations and deformations of integument / skin disease (Q80–Q82, 757.0–757.3)

Genodermatosis

Congenital ichthyosis/
erythrokeratodermia

AD	Ichthyosis vulgaris

AR	Congenital ichthyosiform erythroderma: Epidermolytic hyperkeratosis Lamellar ichthyosis Harlequin type ichthyosis Netherton syndrome Zunich–Kaye syndrome Sjögren–Larsson syndrome

XR	X-linked ichthyosis

Ungrouped	Ichthyosis bullosa of Siemens Ichthyosis follicularis Ichthyosis prematurity syndrome Ichthyosis–sclerosing cholangitis syndrome Nonbullous congenital ichthyosiform erythroderma Ichthyosis linearis circumflexa Ichthyosis hystrix

EB
and related

EBS
- EBS-K
- EBS-WC
- EBS-DM
- EBS-OG
- EBS-MD
- EBS-MP

DEB
- DDEB
- RDEB

Ectodermal dysplasia

Elastic/Connective

Hyperkeratosis/
keratinopathy

PPK	diffuse: Diffuse epidermolytic palmoplantar keratoderma Diffuse nonepidermolytic palmoplantar keratoderma Palmoplantar keratoderma of Sybert Mal de Meleda syndromic connexin Bart–Pumphrey syndrome Clouston's hidrotic ectodermal dysplasia Vohwinkel syndrome Corneodermatoosseous syndrome plakoglobin Naxos syndrome Scleroatrophic syndrome of Huriez Olmsted syndrome Cathepsin C Papillon–Lefèvre syndrome Haim–Munk syndrome Camisa disease focal: Focal palmoplantar keratoderma with oral mucosal hyperkeratosis Focal palmoplantar and gingival keratosis Howel–Evans syndrome Pachyonychia congenita Pachyonychia congenita type I Pachyonychia congenita type II Striate palmoplantar keratoderma Tyrosinemia type II punctate: Acrokeratoelastoidosis of Costa Focal acral hyperkeratosis Keratosis punctata palmaris et plantaris Keratosis punctata of the palmar creases Schöpf–Schulz–Passarge syndrome Porokeratosis plantaris discreta Spiny keratoderma ungrouped: Palmoplantar keratoderma and spastic paraplegia desmoplakin Carvajal syndrome connexin Erythrokeratodermia variabilis HID/KID

Other	Meleda disease Keratosis pilaris ATP2A2 Darier's disease Dyskeratosis congenita Lelis syndrome Dyskeratosis congenita Keratolytic winter erythema Keratosis follicularis spinulosa decalvans Keratosis linearis with ichthyosis congenital and sclerosing keratoderma syndrome Keratosis pilaris atrophicans faciei Keratosis pilaris

Other

see also , , ,

Developmental
anomalies

Midline	Dermoid cyst Encephalocele Nasal glioma PHACE association Sinus pericranii

Nevus	Capillary hemangioma Port-wine stain Nevus flammeus nuchae

Other/ungrouped	Aplasia cutis congenita Amniotic band syndrome Branchial cyst Cavernous venous malformation Accessory nail of the fifth toe Bronchogenic cyst Congenital cartilaginous rest of the neck Congenital hypertrophy of the lateral fold of the hallux Congenital lip pit Congenital malformations of the dermatoglyphs Congenital preauricular fistula Congenital smooth muscle hamartoma Cystic lymphatic malformation Median raphe cyst Melanotic neuroectodermal tumor of infancy Mongolian spot Nasolacrimal duct cyst Omphalomesenteric duct cyst Poland anomaly Rapidly involuting congenital hemangioma Rosenthal–Kloepfer syndrome Skin dimple Superficial lymphatic malformation Thyroglossal duct cyst Verrucous vascular malformation Birthmark

Index of skin

Description

Disease	Neoplasms and cancer

Treatment	Drugs

Congenital diaphragm and abdominal wall defects, abdominopelvic cavity (Q79.0–Q79.5, 756.6–756.7)

Thoracic diaphragm

Hernia
- Congenital diaphragmatic hernia
  - Bochdalek hernia

Abdominal wall

Index of muscle

Description

Disease

Treatment	Drugs

Osteochondrodysplasia (Q77–Q78, 756.4–756.5)

Osteodysplasia//
osteodystrophy

Diaphysis	Camurati–Engelmann disease

Metaphysis	Metaphyseal dysplasia Jansen's metaphyseal chondrodysplasia Schmid metaphyseal chondrodysplasia

Epiphysis	Spondyloepiphyseal dysplasia congenita Multiple epiphyseal dysplasia Otospondylomegaepiphyseal dysplasia

Osteosclerosis	Raine syndrome Osteopoikilosis Osteopetrosis

Other/ungrouped	FLNB Boomerang dysplasia Opsismodysplasia Polyostotic fibrous dysplasia McCune–Albright syndrome

Chondrodysplasia/
chondrodystrophy
(including dwarfism)

Osteochondroma

osteochondromatosis
- Hereditary multiple exostoses

Chondroma/enchondroma

enchondromatosis
- Ollier disease
- Maffucci syndrome

Growth factor receptor

FGFR2:	Antley–Bixler syndrome

FGFR3:	Achondroplasia Hypochondroplasia Thanatophoric dysplasia

COL2A1 collagen disease

SLC26A2 sulfation defect

Chondrodysplasia punctata

Other dwarfism

Index of bones and cartilage

Description	skull

Disease

Treatment	Surgery

Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65–Q76, 754–756.3)

Appendicular
limb / dysmelia

Upper

clavicle / shoulder:	Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome

hand deformity:	Madelung's deformity Clinodactyly Oligodactyly Polydactyly

Lower

hip:	Dislocation of hip / Hip dysplasia Upington disease Coxa valga Coxa vara

knee:	Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation

foot deformity:	varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe

Either / both

dactyly / digit:	Polydactyly / Syndactyly webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Clubbed thumb

reduction deficits / limb:	Acheiropodia ectromelia Phocomelia Amelia Hemimelia

multiple joints:	Arthrogryposis Larsen syndrome Rapadilino syndrome

Axial

Craniofacial

Craniosynostosis:	Scaphocephaly Oxycephaly Trigonocephaly

Craniofacial dysostosis:	Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome

other:	Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose

Vertebral column

Thoracic skeleton

ribs:	Cervical Bifid

sternum:	Pectus excavatum Pectus carinatum

Index of joint

Description

Disease

Treatment	Drugs

Congenital malformations and deformations of urinary system (Q60–Q64, 753)

Abdominal

Kidney	Renal agenesis/Potter sequence, Papillorenal syndrome cystic Polycystic kidney disease Meckel syndrome Multicystic dysplastic kidney Medullary sponge kidney Horseshoe kidney Renal ectopia Nephronophthisis Dent's disease Alport syndrome

Ureter	Ectopic ureter Megaureter Duplicated ureter

Pelvic

Bladder	Bladder exstrophy

Urethra	Epispadias Hypospadias Posterior urethral valves

Vestigial

Urachus	Urachal cyst

Index of the urinary system

Description

Disease

Treatment

752.0–752.4)

Internal

Uterine malformation	Müllerian agenesis Cervical agenesis Unicornuate uterus Uterus didelphys Bicornuate uterus Uterine septum Arcuate uterus

Vagina	Vaginal septum Vaginal hypoplasia

External

Index of reproductive medicine

Description	Anatomy

Disease	Infections Congenital Neoplasms and cancer Other

Treatment	Procedures Drugs hormones

Congenital malformations and deformations of digestive system (Q35–Q45, 749–751)

Upper GI tract

Tongue, mouth and pharynx	Cleft lip and palate Van der Woude syndrome tongue Ankyloglossia Macroglossia Hypoglossia

Esophagus	EA/TEF Esophageal atresia: types A, B, C, and D Tracheoesophageal fistula: types B, C, D and E esophageal rings Esophageal web (upper) Schatzki ring (lower)

Stomach	Pyloric stenosis Hiatus hernia

Lower GI tract

Intestines	Intestinal atresia Duodenal atresia Meckel's diverticulum Hirschsprung's disease Intestinal malrotation Dolichocolon Enteric duplication cyst

Rectum/anal canal	Imperforate anus Rectovestibular fistula Persistent cloaca Rectal atresia

Accessory

Pancreas	Annular pancreas Accessory pancreas Johanson–Blizzard syndrome Pancreas divisum

Bile duct	Choledochal cysts Caroli disease Biliary atresia

Liver	Alagille syndrome Polycystic liver disease

Index of the mouth

Description

Disease	Congenital

Treatment

Index of digestion

Description	Anatomy

Disease

Treatment	Drugs

Congenital malformations and deformations of respiratory system (Q30–Q34, 748)

Upper RT

Nose	Choanal atresia Arrhinia

Larynx	Laryngeal cyst Laryngocele Laryngomalacia

Lower RT

Trachea and bronchus	Tracheomalacia Tracheal stenosis Bronchomalacia Tracheobronchomegaly

Lung	Bronchiectasis Pulmonary hypoplasia Pulmonary sequestration Congenital cystic adenomatoid malformation

Index of the respiratory system

Description	Anatomy

Disease	Infection

Treatment	Drugs

Congenital vascular defects / Vascular malformation (Q25–Q28, 747)

Great arteries/
other arteries

Aorta	Patent ductus arteriosus Coarctation of the aorta Interrupted aortic arch Double aortic arch Right-sided aortic arch Overriding aorta Aneurysm of sinus of Valsalva Vascular ring

Pulmonary artery	Pulmonary atresia Stenosis of pulmonary artery

Subclavian artery	Aberrant subclavian artery

Umbilical artery	Single umbilical artery

Great veins

Superior/inferior vena cava	Congenital stenosis of vena cava Persistent left superior vena cava

Pulmonary vein	Anomalous pulmonary venous connection (Total, Partial) Scimitar syndrome

Arteriovenous malformation

Cerebral arteriovenous malformation

Index of the circulatory system

Description	Arteries Veins

Disease

Treatment	Drugs

Congenital heart defects (Q20–Q24, 745–746)

Cardiac shunt/
heart septal defect

Aortopulmonary septal defect	R→L: Double outlet right ventricle Taussig–Bing syndrome Transposition of the great vessels dextro levo Persistent truncus arteriosus Aortopulmonary window

Atrial septal defect	L→R: Sinus venosus atrial septal defect Lutembacher's syndrome

Ventricular septal defect	L→R and R→L: Eisenmenger's syndrome R→L, with other conditions: Tetralogy of Fallot

Atrioventricular septal defect	L→R: Ostium primum

Valvular heart disease/
heart chambers

Right	pulmonary valves stenosis insufficiency tricuspid valves stenosis atresia Ebstein's anomaly Hypoplastic right heart syndrome Uhl anomaly

Left	aortic valves stenosis insufficiency bicuspid mitral valves stenosis regurgitation Hypoplastic left heart syndrome

Other

Index of the heart

Description

Disease

Treatment	Drugs

Congenital malformations and deformations of face and neck (Q18, 744.4–744.9)

Face

jaw: Otocephaly

mouth: Macrostomia
Microstomia

lip: Macrocheilia
Microcheilia

chin: Microgenia

multiple/other: Hallermann–Streiff syndrome
Branchial cleft cyst

Neck

Webbed neck

Ungrouped

Preauricular sinus and cyst

Index of the mouth

Description

Disease	Congenital

Treatment

Congenital malformations and deformations of ears (Q16–Q17, 744.0–744.3)

Size

Position

Low-set ears

Other

Index of the ear

Description

Disease

Treatment

Congenital malformations and deformations of eyes (Q10–Q15, 743)

Adnexa

Eyelid	Ptosis Ectropion Entropion Distichia Blepharophimosis Ablepharon Marcus Gunn phenomenon

Lacrimal apparatus	Congenital lacrimal duct obstruction

Globe

Entire eye	Anophthalmia (Cystic eyeball, Cryptophthalmos) Microphthalmia

Lens	Ectopia lentis Aphakia

Iris	Aniridia

Anterior segment	Axenfeld syndrome

Cornea	Keratoglobus Megalocornea

Other	Buphthalmos Coloboma (Coloboma of optic nerve) Hydrophthalmos Norrie disease

Index of the eye

Description	Phenomena

Disease

Treatment	Drugs

Congenital malformations and deformations of nervous system (Q00–Q07, 740–742)

Brain

Neural tube defect	Anencephaly Acephaly Acrania Acalvaria Iniencephaly Encephalocele Arnold–Chiari malformation

Other	Microcephaly Congenital hydrocephalus Dandy–Walker syndrome other reduction deformities Holoprosencephaly Lissencephaly Pachygyria Hydranencephaly Septo-optic dysplasia Megalencephaly CNS cyst Porencephaly Schizencephaly Polymicrogyria Bilateral frontoparietal polymicrogyria

Spinal cord

Neural tube defect	Spina bifida Rachischisis

Other	Currarino syndrome Diastomatomyelia Syringomyelia

Index of the central nervous system

Description

Disease	Tests

Treatment	Drugs

Pathology: Medical conditions and ICD code

(Disease / Disorder / Syndrome / Sequence, Symptom / Sign, Injury, etc.)

(A/B, 001–139)

(C/D,
140–239 &
279–289)

Cancer (C00–D48, 140–239)	Neoplasm

280–289)	Anemia Coagulopathy

D80–D89, 279)	Immunodeficiency Immunoproliferative disorder Hypersensitivity

(E, 240–278)

(F, 290–319)

Mental disorder

(G, 320–359)

(360–389)

(I, 390–459)

Cardiovascular disease
- Heart disease
- Vascular disease

(J, 460–519)

Respiratory disease

(K, 520–579)

(L, 680–709)

(M, 710–739)

(N, 580–629)

(O, 630–679)

(P, 760–779)

Fetal disease

(Q, 740–759)

Congenital disorder
- Congenital abnormality

(R, 780–799)

(S/T, 800–999)

^ WHO | International Classification of Diseases (ICD)

References

Excludes

(Q90) Down's syndrome
- (Q90.0) Trisomy 21, meiotic nondisjunction
- (Q90.1) Trisomy 21, mosaicism (mitotic nondisjunction)
- (Q90.2) Trisomy 21, translocation
- (Q90.9) Down's syndrome, unspecified
(Q91) Trisomy 18 and Trisomy 13
- (Q91.0) Trisomy 18, meiotic nondisjunction
- (Q91.1) Trisomy 18, mosaicism (mitotic nondisjunction)
- (Q91.2) Trisomy 18, translocation
- (Q91.3) Edwards' syndrome, unspecified
- (Q91.4) Trisomy 13, meiotic nondisjunction
- (Q91.5) Trisomy 13, mosaicism (mitotic nondisjunction)
- (Q91.6) Trisomy 13, translocation
- (Q91.7) Patau's syndrome, unspecified
(Q92) Other trisomies and partial trisomies of the autosomes, not elsewhere classified
- Trisomy 9
- Warkany syndrome 2
- (Q92.0) Whole chromosome trisomy, meiotic nondisjunction
- (Q92.1) Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
- (Q92.2) Major partial trisomy
- (Q92.3) Minor partial trisomy
- (Q92.4) Duplications seen only at prometaphase
- (Q92.5) Duplications with other complex rearrangements
- (Q92.6) Extra marker chromosomes
- (Q92.7) Triploidy and polyploidy
- (Q92.8) Other specified trisomies and partial trisomies of autosomes
- (Q92.9) Trisomy and partial trisomy of autosomes, unspecified
(Q93) Monosomies and deletions from the autosomes, not elsewhere classified
- (Q93.0) Whole chromosome monosomy, meiotic nondisjunction
- (Q93.1) Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
- (Q93.2) Chromosome replaced with ring or dicentric
- (Q93.3) Deletion of short arm of chromosome 4
  - Wolff-Hirschorn syndrome
- (Q93.4) Deletion of short arm of chromosome 5
  - Cri-du-chat syndrome
- (Q93.5) Other deletions of part of a chromosome
  - Angelman syndrome
- (Q93.6) Deletion seen only at prometaphase
- (Q93.7) Deletions with other complex rearrangements
- (Q93.8) Other deletions from the autosomes
- (Q93.9) Deletion from autosomes, unspecified
(Q95) Balanced rearrangements and structural markers, not elsewhere classified
- Robertsonian and balanced reciprocal translocations and insertions
- (Q95.0) Balanced translocation and insertion in normal individual
- (Q95.1) Chromosome inversion in normal individual
- (Q95.2) Balanced autosomal rearrangement in abnormal individual
- (Q95.3) Balanced sex/autosomal rearrangement in abnormal individual
- (Q95.4) Individuals with marker heterochromatin
- (Q95.5) Individuals with autosomal fragile site
- (Q95.8) Other balanced rearrangements and structural markers
- (Q95.9) Balanced rearrangement and structural marker, unspecified
(Q96) Turner syndrome
- (Q96.0) Karyotype 45,X
- (Q96.1) Karyotype 46,X iso (Xq)
- (Q96.2) Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
- (Q96.3) Mosaicism, 45,X/46,XX or XY
- (Q96.4) Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
- (Q96.8) Other variants of Turner's syndrome
- (Q96.9) Turner's syndrome, unspecified
(Q97) Other sex chromosome abnormalities, female phenotype, not elsewhere classified
- (Q97.0) Karyotype 47,XXX
- (Q97.1) Female with more than three X chromosomes
- (Q97.2) Mosaicism, lines with various numbers of X chromosomes
- (Q97.3) Female with 46,XY karyotype
- (Q97.8) Other specified sex chromosome abnormalities, female phenotype
- (Q97.9) Sex chromosome abnormality, female phenotype, unspecified
(Q98) Other sex chromosome abnormalities, male phenotype, not elsewhere classified
- (Q98.0) Klinefelter's syndrome karyotype 47,XXY
- (Q98.1) Klinefelter's syndrome, male with more than two X chromosomes
- (Q98.2) Klinefelter's syndrome, male with 46,XX karyotype
- (Q98.3) Other male with 46,XX karyotype – XX male syndrome
- (Q98.4) Klinefelter's syndrome, unspecified
- (Q98.5) Karyotype 47,XYY
- (Q98.6) Male with structurally abnormal sex chromosome
- (Q98.7) Male with sex chromosome mosaicism
- (Q98.8) Other specified sex chromosome abnormalities, male phenotype
- (Q98.9) Sex chromosome abnormality, male phenotype, unspecified
(Q99) Other chromosome abnormalities, not elsewhere classified
- (Q99.0) Chimera 46,XX/46,XY
- (Q99.1) 46,XX true hermaphrodite
- (Q99.2) Fragile X chromosome
  - Fragile X syndrome
- (Q99.8) Other specified chromosome abnormalities
- (Q99.9) Chromosomal abnormality, unspecified

Q90–Q99 – Chromosomal abnormalities, not elsewhere classified

(Q80) Congenital ichthyosis
- (Q80.0) Ichthyosis vulgaris
- (Q80.1) X-linked ichthyosis
- (Q80.2) Lamellar ichthyosis
- (Q80.3) Congenital bullous ichthyosiform erythroderma
- (Q80.4) Harlequin fetus
- (Q80.8) Other congenital ichthyosis
- (Q80.9) Congenital ichthyosis, unspecified
(Q81) Epidermolysis bullosa
- (Q81.0) Epidermolysis bullosa simplex
- (Q81.1) Epidermolysis bullosa letalis
- (Q81.2) Epidermolysis bullosa dystrophica
- (Q81.8) Other epidermolysis bullosa
- (Q81.9) Epidermolysis bullosa, unspecified
(Q82) Other congenital malformations of skin
- (Q82.0) Hereditary lymphoedema
- (Q82.1) Xeroderma pigmentosum
- (Q82.2) Mastocytosis
  - Urticaria pigmentosa
- (Q82.3) Incontinentia pigmenti
- (Q82.4) Ectodermal dysplasia (anhidrotic)
- (Q82.5) Congenital non-neoplastic naevus
  - Birthmark NOS
  - naevus flammeus / Port-wine stain
  - sanguineous naevus
  - strawberry naevus
  - vascular naevus NOS
  - verrucous naevus
- (Q82.8) Other specified congenital malformations of skin
  - Abnormal palmar creases
  - Accessory skin tags
  - Benign familial pemphigus (Hailey-Hailey disease)
  - Cutis laxa (hyperelastica)
  - Dermatoglyphic anomalies
  - Inherited keratosis palmaris et plantaris
  - Keratosis follicularis (Darier-White) (ILDS Q82.868)
- (Q82.9) Congenital malformation of skin, unspecified
(Q83) Congenital malformations of breast
- (Q83.0) Congenital absence of breast with absent nipple
- (Q83.1) Accessory breast
- (Q83.2) Absent nipple
- (Q83.3) Accessory nipple
  - Supernumerary nipple
- (Q83.8) Other congenital malformations of breast
  - Hypoplasia of breast
- (Q83.9) Congenital malformation of breast, unspecified
(Q84) Other congenital malformations of integument
- (Q84.0) Congenital alopecia
- (Q84.1) Congenital morphological disturbances of hair, not elsewhere classified
  - Beaded hair
  - Monilethrix
  - Pili annulati
  - Trichothiodystrophy (ILDS Q84.169)
- (Q84.2) Other congenital malformations of hair
- (Q84.3) Anonychia
- (Q84.4) Congenital leukonychia
- (Q84.5) Enlarged and hypertrophic nails
  - Congenital onychauxis
  - Pachyonychia
- (Q84.6) Other congenital malformations of nails
- (Q84.8) Other specified congenital malformations of integument
- (Q84.9) Congenital malformation of integument, unspecified
(Q85) Phakomatoses, not elsewhere classified
- (Q85.0) Neurofibromatosis (nonmalignant)
  - Von Recklinghausen's disease (ILDS Q85.010)
  - Neurofibromatosis II (ILDS Q85.020)
  - Neurofibromatosis, segmental (ILDS Q85.030)
- (Q85.1) Tuberous sclerosis
  - Bourneville's disease
- (Q85.8) Other phakomatoses, not elsewhere classified
  - Sturge-Weber syndrome (EUROCAT Q85.81)
  - von Hippel-Lindau disease (EUROCAT Q85.82)
- (Q85.9) Phakomatosis, unspecified
  - Hamartosis NOS
(Q86) Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
- (Q86.0) Fetal alcohol syndrome (dysmorphic)
- (Q86.1) Fetal hydantoin syndrome
  - Meadow's syndrome
- (Q86.2) Dysmorphism due to warfarin
- (Q86.3) Other congenital malformation syndromes due to known exogenous causes
(Q87) Other specified congenital malformation syndromes affecting multiple systems
- (Q87.0) Congenital malformation syndromes predominantly affecting facial appearance
- (Q87.1) Congenital malformation syndromes predominantly associated with short stature
  - Aarskog syndrome
  - Cockayne syndrome (ILDS Q87.110)
  - De Lange syndrome (ILDS Q87.170)
  - Dubowitz syndrome
  - Noonan syndrome
  - Prader-Willi syndrome
  - Robinow-Silverman-Smith syndrome
  - Silver-Russell syndrome (ILDS Q87.114)
  - Seckel syndrome
  - Smith-Lemli-Opitz syndrome
  - Sjögren-Larsson syndrome (ILDS Q87.136)
- (Q87.2) Congenital malformation syndromes predominantly involving limbs
  - Holt-Oram syndrome
  - Klippel-Trénaunay-Weber (EUROCAT Q87.21, ILDS Q87.210)
  - Nail-patella syndrome (ILDS Q87.230)
  - Rubinstein-Taybi syndrome (EUROCAT Q87.23)
  - sirenomelia
  - thrombocytopenia with absent radius syndrome
  - VATER syndrome
- (Q87.3) Congenital malformation syndromes involving early overgrowth
- (Q87.4) Marfan's syndrome
- (Q87.5) Other congenital malformation syndromes with other skeletal changes
- (Q87.8) Other specified congenital malformation syndromes, not elsewhere classified
  - Alport syndrome (EUROCAT Q87.80)
  - Bardet-Biedl syndrome (EUROCAT Q87.81)
  - Zellweger's syndrome (EUROCAT Q87.83)
  - William's syndrome (EUROCAT Q87.84)
  - Angelman's syndrome (Happy puppet syndrome) (EUROCAT Q87.85)
(Q89) Other congenital malformations, not elsewhere classified
- (Q89.0) Congenital malformations of spleen
  - Asplenia (congenital)
  - Congenital splenomegaly
- (Q89.1) Congenital malformations of adrenal gland
- (Q89.2) Congenital malformations of other endocrine glands
- (Q89.3) Situs inversus
- (Q89.4) Conjoined twins
- (Q89.7) Multiple congenital malformations, not elsewhere classified
- (Q89.8) Other specified congenital malformations
- (Q89.9) Congenital malformation, unspecified

(Q80–Q89) Other

(Q65) Congenital deformities of hip
- (Q65.0) Congenital dislocation of hip, unilateral
- (Q65.1) Congenital dislocation of hip, bilateral
- (Q65.2) Congenital dislocation of hip, unspecified
- (Q65.3) Congenital subluxation of hip, unilateral
- (Q65.4) Congenital subluxation of hip, bilateral
- (Q65.5) Congenital subluxation of hip, unspecified
- (Q65.6) Unstable hip
- (Q65.8) Other congenital deformities of hip
- (Q65.9) Congenital deformity of hip, unspecified
(Q66) Congenital deformities of feet
- (Q66.0) Talipes equinovarus
- (Q66.1) Talipes calcaneovarus
- (Q66.2) Metatarsus varus
- (Q66.3) Other congenital varus deformities of feet
- (Q66.4) Talipes calcaneovalgus
- (Q66.5) Congenital pes planus
- (Q66.6) Other congenital valgus deformities of feet
- (Q66.7) Pes cavus
- (Q66.8) Other congenital deformities of feet
- (Q66.9) Congenital deformity of feet, unspecified
(Q67) Congenital musculoskeletal deformities of head, face, spine and chest
- (Q67.0) Facial asymmetry
- (Q67.1) Compression facies
- (Q67.2) Dolichocephaly
- (Q67.3) Plagiocephaly
- (Q67.4) Other congenital deformities of skull, face and jaw
- (Q67.5) Congenital deformity of spine
- (Q67.6) Pectus excavatum
- (Q67.7) Pectus carinatum
- (Q67.8) Other congenital deformities of chest
(Q68) Other congenital musculoskeletal deformities
- (Q68.0) Congenital deformity of sternocleidomastoid muscle
- (Q68.1) Congenital deformity of hand
- (Q68.2) Congenital deformity of knee
- (Q68.3) Congenital bowing of femur
- (Q68.4) Congenital bowing of tibia and fibula
- (Q68.5) Congenital bowing of long bones of leg, unspecified
- (Q68.8) Other specified congenital musculoskeletal deformities
(Q69) Polydactyly
- (Q69.0) Accessory finger(s)
- (Q69.1) Accessory thumb(s)
- (Q69.2) Accessory toe(s)
- (Q69.9) Polydactyly, unspecified
(Q70) Syndactyly
- (Q70.0) Fused fingers
- (Q70.1) Webbed fingers
- (Q70.2) Fused toes
- (Q70.3) Webbed toes
- (Q70.4) Polysyndactyly
- (Q70.9) Syndactyly, unspecified
(Q71) Reduction defects of upper limb
- (Q71.0) Congenital complete absence of upper limb(s)
- (Q71.1) Congenital absence of upper arm and forearm with hand present
- (Q71.2) Congenital absence of both forearm and hand
- (Q71.3) Congenital absence of hand and finger(s)
- (Q71.4) Longitudinal reduction defect of radius
- (Q71.5) Longitudinal reduction defect of ulna
- (Q71.6) Lobster-claw hand
- (Q71.8) Other reduction defects of upper limb(s)
- (Q71.9) Reduction defect of upper limb, unspecified
(Q72) Reduction defects of lower limb
- (Q72.0) Congenital complete absence of lower limb(s)
- (Q72.1) Congenital absence of thigh and lower leg with foot present
- (Q72.2) Congenital absence of both lower leg and foot
- (Q72.3) Congenital absence of foot and toe(s)
- (Q72.4) Longitudinal reduction defect of femur
- (Q72.5) Longitudinal reduction defect of tibia
- (Q72.6) Longitudinal reduction defect of fibula
- (Q72.7) Split foot
- (Q72.8) Other reduction defects of lower limb(s)
- (Q72.9) Reduction defect of lower limb, unspecified
(Q73) Reduction defects of unspecified limb
- (Q73.0) Congenital absence of unspecified limb(s)
  - Amelia NOS
- (Q73.1) Phocomelia, unspecified limb(s)
- (Q73.8) Other reduction defects of unspecified limb(s)
  - Ectromelia NOS
  - Hemimelia NOS
  - Reduction defect, NOS
(Q74) Other congenital malformations of limb(s)
- (Q74.0) Other congenital malformations of upper limb(s), including shoulder girdle
- (Q74.1) Congenital malformation of knee
  - genu valgum
  - genu varum
- (Q74.2) Other congenital malformations of lower limb(s), including pelvic girdle
- (Q74.3) Arthrogryposis multiplex congenita
- (Q74.8) Other specified congenital malformations of limb(s)
- (Q74.9) Unspecified congenital malformation of limb(s)
(Q75) Other congenital malformations of skull and face bones
- (Q75.0) Craniosynostosis
- (Q75.1) Craniofacial dysostosis
  - Crouzon's disease
- (Q75.2) Hypertelorism
- (Q75.3) Macrocephaly
- (Q75.4) Mandibulofacial dysostosis
  - Franceschetti syndrome
  - Treacher-Collins syndrome
- (Q75.5) Oculomandibular dysostosis
- (Q75.8) Other specified congenital malformations of skull and face bones
  - Absence of skull bone, congenital
  - Congenital deformity of forehead
  - Platybasia
- (Q75.9) Congenital malformation of skull and face bones, unspecified
(Q76) Congenital malformations of spine and bony thorax
- (Q76.0) Spina bifida occulta
- (Q76.1) Klippel-Feil syndrome
- (Q76.2) Congenital spondylolisthesis
- (Q76.3) Congenital scoliosis due to congenital bony malformation
- (Q76.4) Other congenital malformations of spine, not associated with scoliosis
- (Q76.5) Cervical rib
- (Q76.6) Other congenital malformations of ribs
- (Q76.7) Congenital malformation of sternum
  - Congenital absence of sternum
  - Sternum bifidum
- (Q76.8) Other congenital malformations of bony thorax
- (Q76.9) Congenital malformation of bony thorax, unspecified
(Q77) Osteochondrodysplasia with defects of growth of tubular bones and spine
- (Q77.0) Achondrogenesis
  - Hypochondrogenesis
- (Q77.1) Thanatophoric short stature
- (Q77.2) Short rib syndrome
  - Asphyxiating thoracic dysplasia (Jeune)
- (Q77.3) Chondrodysplasia punctata
- (Q77.4) Achondroplasia
  - Hypochondroplasia
  - Osteosclerosis congenita
- (Q77.5) Diastrophic dysplasia
- (Q77.6) Chondroectodermal dysplasia
  - Ellis-van Creveld syndrome
- (Q77.7) Spondyloepiphyseal dysplasia
- (Q77.8) Other osteochondrodysplasia with defects of growth of tubular bones and spine
- (Q77.9) Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
(Q78) Other osteochondrodysplasias
- (Q78.0) Osteogenesis imperfecta
  - Fragilitas ossium
  - Osteopsathyrosis
- (Q78.1) Polyostotic fibrous dysplasia
  - Albright(-McCune)(-Sternberg) syndrome
- (Q78.2) Osteopetrosis
  - Albers-Schönberg syndrome
- (Q78.3) Progressive diaphyseal dysplasia
  - Camurati-Engelmann syndrome
- (Q78.4) Enchondromatosis
  - Maffucci's syndrome
  - Ollier's disease
- (Q78.5) Metaphyseal dysplasia
  - Pyle's syndrome
- (Q78.6) Multiple congenital exostoses
  - Diaphyseal aclasis
- (Q78.8) Other specified osteochondrodysplasias
  - Osteopoikilosis
- (Q78.9) Osteochondrodysplasia, unspecified
  - Chondrodystrophy NOS
  - Osteodystrophy NOS
(Q79) Congenital malformations of the musculoskeletal system, not elsewhere classified
- (Q79.0) Congenital diaphragmatic hernia
- (Q79.1) Other congenital malformations of diaphragm
- (Q79.2) Exomphalos
  - Omphalocele
- (Q79.3) Gastroschisis
- (Q79.4) Prune belly syndrome
- (Q79.5) Other congenital malformations of abdominal wall
- (Q79.6) Ehlers-Danlos syndrome
- (Q79.8) Other congenital malformations of musculoskeletal system
- (Q79.9) Congenital malformation of musculoskeletal system, unspecified

(Q65–Q79) musculoskeletal system

(Q60) Renal agenesis and other reduction defects of kidney
- (Q60.0) Renal agenesis, unilateral
- (Q60.1) Renal agenesis, bilateral
- (Q60.2) Renal agenesis, unspecified
- (Q60.3) Renal hypoplasia, unilateral
- (Q60.4) Renal hypoplasia, bilateral
- (Q60.6) Renal hypoplasia, unspecified
- (Q60.7) Potter sequence
(Q61) Cystic kidney disease
- (Q61.0) Congenital single renal cyst
- (Q61.1) Polycystic kidney, autosomal recessive
- (Q61.2) Polycystic kidney, autosomal dominant
- (Q61.3) Polycystic kidney, unspecified
- (Q61.4) Renal dysplasia
- (Q61.5) Medullary cystic kidney
- (Q61.8) Other cystic kidney diseases
- (Q61.9) Cystic kidney disease, unspecified
  - Meckel-Gruber syndrome
(Q62) Congenital obstructive defects of renal pelvis and congenital malformations of ureter
- (Q62.0) Congenital hydronephrosis
- (Q62.1) Atresia and stenosis of ureter
- (Q62.2) Congenital megaloureter
- (Q62.3) Other obstructive defects of renal pelvis and ureter
- (Q62.4) Agenesis of ureter
- (Q62.5) Duplication of ureter
- (Q62.6) Malposition of ureter
- (Q62.7) Congenital vesico-uretero-renal reflux
- (Q62.8) Other congenital malformations of ureter
(Q63) Other congenital malformations of kidney
- (Q63.0) Accessory kidney
- (Q63.1) Lobulated, fused and horseshoe kidney
- (Q63.2) Ectopic kidney
- (Q63.3) Hyperplastic and giant kidney
- (Q63.8) Other specified congenital malformations of kidney
- (Q63.9) Congenital malformation of kidney, unspecified
(Q64) Other congenital malformations of urinary system
- (Q64.0) Epispadias
- (Q64.1) Exstrophy of urinary bladder
- (Q64.2) Congenital posterior urethral valves
- (Q64.3) Other atresia and stenosis of urethra and bladder neck
- (Q64.4) Malformation of urachus
- (Q64.5) Congenital absence of bladder and urethra
- (Q64.6) Congenital diverticulum of bladder
- (Q64.7) Other congenital malformations of bladder and urethra
- (Q64.8) Other specified congenital malformations of urinary system
- (Q64.9) Congenital malformation of urinary system, unspecified

(Q60–Q64) urinary system

(Q50) Congenital malformations of ovaries, fallopian tubes and broad ligaments
(Q51) Congenital malformations of uterus and cervix
- (Q51.0) Agenesis and aplasia of uterus
- (Q51.1) Doubling of uterus with doubling of cervix and vagina
- (Q51.2) Other doubling of uterus
- (Q51.3) Bicornate uterus
- (Q51.4) Unicornate uterus
- (Q51.5) Agenesis and aplasia of cervix
- (Q51.6) Embryonic cyst of cervix
- (Q51.7) Congenital fistulae between uterus and digestive and urinary tracts
- (Q51.8) Other congenital malformations of uterus and cervix
- (Q51.9) Congenital malformation of uterus and cervix, unspecified
(Q52) Other congenital malformations of female genitalia
- (Q52.0) Congenital absence of vagina
- (Q52.1) Doubling of vagina
- (Q52.2) Congenital rectovaginal fistula
- (Q52.3) Imperforate hymen
- (Q52.4) Other congenital malformations of vagina
- (Q52.5) Fusion of labia
- (Q52.6) Congenital malformation of clitoris
- (Q52.7) Other congenital malformations of vulva
- (Q52.8) Other specified congenital malformations of female genitalia
- (Q52.9) Congenital malformation of female genitalia, unspecified
(Q53) Undescended testicle
(Q54) Hypospadias
- (Q54.0) Hypospadias, balanic
- (Q54.1) Hypospadias, penile
- (Q54.2) Hypospadias, penoscrotal
- (Q54.3) Hypospadias, perineal
- (Q54.4) Congenital chordee
- (Q54.8) Other hypospadias
- (Q54.9) Hypospadias, unspecified
(Q55) Other congenital malformations of male genital organs
- (Q55.0) Absence and aplasia of testis
  - Monorchism
- (Q55.1) Hypoplasia of testis and scrotum
- (Q55.2) Other congenital malformations of testis and scrotum
- (Q55.3) Atresia of vas deferens
- (Q55.4) Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate
- (Q55.5) Congenital absence and aplasia of penis
- (Q55.6) Other congenital malformations of penis
- (Q55.8) Other specified male genital organs
- (Q55.9) Congenital malformation of male genital organ, unspecified
(Q56) Indeterminate sex and pseudohermaphroditism
- (Q56.0) Hermaphroditism, not elsewhere classified
- (Q56.1) Male pseudohermaphroditism, not elsewhere classified
- (Q56.2) Female pseudohermaphroditism, not elsewhere classified
- (Q56.3) Pseudohermaphroditism, unspecified
- (Q56.4) Indeterminate sex, unspecified

(Q50–Q56) genital organs

(Q30)

(Q30–Q34) respiratory system

(Q20) Congenital malformations of cardiac chambers and connections
- (Q20.0) Common arterial trunk
  - Persistent truncus arteriosus
- (Q20.1) Double outlet right ventricle
  - Taussig-Bing syndrome
- (Q20.2) Double outlet left ventricle
- (Q20.3) Discordant ventriculoarterial connection
  - Dextrotransposition of aorta
  - Transposition of great vessels (complete)
- (Q20.4) Double inlet ventricle
- (Q20.5) Discordant atrioventricular connection
  - Corrected transposition
- (Q20.6) Isomerism of atrial appendages
(Q21) Congenital malformations of cardiac septa
- (Q21.0) Ventricular septal defect
- (Q21.1) Atrial septal defect
- (Q21.2) Atrioventricular septal defect
- (Q21.3) Tetralogy of Fallot
- (Q21.4) Aortopulmonary septal defect
  - Aortic septal defect
  - Aortopulmonary window
- (Q21.8) Other congenital malformations of cardiac septa
  - Eisenmenger's syndrome
(Q22) Congenital malformations of pulmonary and tricuspid valves
- (Q22.0) Pulmonary valve atresia
- (Q22.1) Congenital pulmonary valve stenosis
- (Q22.2) Congenital pulmonary valve insufficiency
- (Q22.3) Other congenital malformations of pulmonary valve
- (Q22.4) Congenital tricuspid stenosis
  - Tricuspid atresia
- (Q22.5) Ebstein's anomaly
- (Q22.6) Hypoplastic right heart syndrome
- (Q22.8) Other congenital malformations of tricuspid valve
- (Q22.9) Congenital malformation of tricuspid valve, unspecified
(Q23) Congenital malformations of aortic and mitral valves
- (Q23.0) Congenital stenosis of aortic valve
- (Q23.1) Congenital insufficiency of aortic valve
- (Q23.2) Congenital mitral stenosis
- (Q23.3) Congenital mitral insufficiency
- (Q23.4) Hypoplastic left heart syndrome
- (Q23.8) Other congenital malformations of aortic and mitral valves
- (Q23.9) Congenital malformation of aortic and mitral valves, unspecified
(Q24) Other congenital malformations of heart
- (Q24.0) Dextrocardia
- (Q24.1) Laevocardia
- (Q24.2) Cor triatriatum
- (Q24.3) Pulmonary infundibular stenosis
- (Q24.4) Congenital subaortic stenosis
- (Q24.5) Malformation of coronary vessels
- (Q24.6) Congenital heart block
- (Q24.8) Other specified congenital malformations of heart
- (Q24.9) Congenital malformation of heart, unspecified
(Q25) Congenital malformations of great arteries
- (Q25.0) Patent ductus arteriosus
- (Q25.1) Coarctation of aorta
- (Q25.2) Atresia of aorta
- (Q25.3) Stenosis of aorta
- (Q25.4) Other congenital malformations of aorta
  - Overriding aorta (EUROCAT Q25.42)
  - Aneurysm of sinus of Valsalva (ruptured) (EUROCAT Q25.43)
  - Double aortic arch (vascular ring of aorta)
- (Q25.5) Atresia of pulmonary artery
- (Q25.6) Stenosis of pulmonary artery
- (Q25.7) Other congenital malformations of pulmonary artery
(Q26) Congenital malformations of great veins
- (Q26.0) Congenital stenosis of vena cava
- (Q26.1) Persistent left superior vena cava
- (Q26.2) Total anomalous pulmonary venous connection
- (Q26.3) Partial anomalous pulmonary venous connection
- (Q26.4) Anomalous pulmonary venous connection, unspecified
- (Q26.5) Anomalous portal venous connection
- (Q26.6) Portal vein-hepatic artery fistula
- (Q26.8) Other congenital malformations of great veins
  - Scimitar syndrome
- (Q26.9) Congenital malformation of great vein, unspecified
(Q27) Other congenital malformations of peripheral vascular system
- (Q27.0) Congenital absence and hypoplasia of umbilical artery
- (Q27.1) Congenital renal artery stenosis
- (Q27.2) Other congenital malformations of renal artery
- (Q27.3) Peripheral arteriovenous malformation
- (Q27.4) Congenital phlebectasia
- (Q27.8) Other specified congenital malformations of peripheral vascular system
- (Q27.9) Congenital malformation of peripheral vascular system, unspecified
(Q28) Other congenital malformations of circulatory system
- (Q28.0) Arteriovenous malformation of precerebral vessels
- (Q28.1) Other malformations of precerebral vessels
- (Q28.2) Arteriovenous malformation of cerebral vessels
- (Q28.3) Other malformations of cerebral vessels
- (Q28.8) Other specified congenital malformations of circulatory system
- (Q28.9) Congenital malformation of circulatory system, unspecified

(Q20–Q28) circulatory system

(Q18) Other congenital malformations of face and neck
- (Q18.0) Sinus, fistula and cyst of branchial cleft
- (Q18.1) Preauricular sinus and cyst
- (Q18.2) Other branchial cleft malformations
  - Otocephaly
- (Q18.3) Webbing of neck
- (Q18.4) Macrostomia
- (Q18.5) Microstomia
- (Q18.6) Macrocheilia
- (Q18.7) Microcheilia
- (Q18.8) Other specified congenital malformations of face and neck
- (Q18.9) Congenital malformation of face and neck, unspecified

Other face and neck

(Q16) Congenital malformations of ear causing impairment of hearing
(Q17) Other congenital malformations of ear
- (Q17.0) Accessory auricle
  - Accessory tragus
  - Polyotia
  - Preauricular appendage or tag
- (Q17.1) Macrotia
- (Q17.2) Microtia
- (Q17.3) Other misshapen ear
  - Pointed ear
- (Q17.4) Misplaced ear
  - Low-set ears
- (Q17.5) Prominent ear
  - Bat ear
- (Q17.8) Other specified congenital malformations of ear
- (Q17.9) Congenital malformation of ear, unspecified

Ear

(Q10) Congenital malformations of eyelid, lacrimal apparatus and orbit
- (Q10.0) Congenital ptosis
- (Q10.1) Congenital ectropion
- (Q10.2) Congenital entropion
- (Q10.3) Other congenital malformations of eyelid
  - Ablepharon
  - Blepharophimosis, congenital
  - Coloboma of eyelid
- (Q10.4) Absence and agenesis of lacrimal apparatus
- (Q10.5) Congenital stenosis and stricture of lacrimal duct
- (Q10.6) Other congenital malformations of lacrimal apparatus
- (Q10.7) Congenital malformation of orbit
(Q11) Anophthalmos, microphthalmos and macrophthalmos
- (Q11.0) Cystic eyeball
- (Q11.1) Other anophthalmos
- (Q11.2) Microphthalmos
- (Q11.3) Macrophthalmos
(Q12) Congenital lens malformations
- (Q12.0) Congenital cataract
- (Q12.1) Congenital displaced lens
- (Q12.2) Coloboma of lens
- (Q12.3) Congenital aphakia
- (Q12.4) Spherophakia
- (Q12.8) Other congenital lens malformations
- (Q12.9) Congenital lens malformation, unspecified
(Q13) Congenital malformations of anterior segment of eye
- (Q13.0) Coloboma of iris
- (Q13.1) Absence of iris
  - Aniridia
- (Q13.2) Other congenital malformations of iris
- (Q13.3) Congenital corneal opacity
- (Q13.4) Other congenital corneal malformations
- (Q13.5) Blue sclera
- (Q13.8) Other congenital malformations of anterior segment of eye
- (Q13.9) Congenital malformation of anterior segment of eye, unspecified
(Q14) Congenital malformations of posterior segment of eye
- (Q14.0) Congenital malformation of vitreous humour
- (Q14.1) Congenital malformation of retina
- (Q14.2) Congenital malformation of optic disc
  - Coloboma of optic disc
- (Q14.3) Congenital malformation of choroid
- (Q14.8) Other congenital malformations of posterior segment of eye
  - Coloboma of the fundus
- (Q14.9) Congenital malformation of posterior segment of eye, unspecified
(Q15) Other congenital malformations of eye
- (Q15.0) Congenital glaucoma
  - Buphthalmos
  - Glaucoma of newborn
  - Hydrophthalmos
  - Keratoglobus, congenital, with glaucoma
  - Macrocornea with glaucoma
  - Macrophthalmos in congenital glaucoma
  - Megalocornea with glaucoma

Eye

(Q10–Q18) eye, ear, face and neck

(Q00) Anencephaly and similar malformations
- (Q00.0) Anencephaly
- (Q00.1) Craniorachischisis
- (Q00.2) Iniencephaly
(Q01) Encephalocele
(Q02) Microcephaly
(Q03) Congenital hydrocephalus
- (Q03.0) Malformations of aqueduct of Sylvius
- (Q03.1) Atresia of foramina of Magendie and Luschka
  - Dandy-Walker syndrome
- (Q03.8) Other congenital hydrocephalus
- (Q03.9) Congenital hydrocephalus, unspecified
(Q04) Other congenital malformations of brain
- (Q04.0) Congenital malformations of corpus callosum
- (Q04.1) Arhinencephaly
- (Q04.2) Holoprosencephaly
- (Q04.3) Other reduction deformities of brain
  - Agyria and Lissencephaly (EUROCAT Q04.33)
  - Microgyria and Pachygyria (EUROCAT Q04.34)
  - Hydranencephaly (EUROCAT Q04.35)
- (Q04.4) Septo-optic dysplasia
- (Q04.5) Megalencephaly
- (Q04.6) Congenital cerebral cysts
  - Porencephaly
  - Schizencephaly
- (Q04.8) Other specified congenital malformations of brain
- (Q04.9) Congenital malformation of brain, unspecified
(Q05) Spina bifida
- - hydromeningocele (spinal)
  - meningocele(spinal)
  - meningomyelocele
  - myelocele
  - myelomeningocele
  - rachischisis
  - syringomyelocele
(Q06) Other congenital malformations of spinal cord
- (Q06.0) Amyelia
- (Q06.1) Hypoplasia and dysplasia of spinal cord
- (Q06.2) Diastematomyelia
- (Q06.3) Other congenital cauda equina malformations
- (Q06.4) Hydromyelia
- (Q06.8) Other specified congenital malformations of spinal cord
- (Q06.9) Congenital malformation of spinal cord, unspecified
(Q07) Other congenital malformations of nervous system
- (Q07.0) Arnold-Chiari syndrome
- (Q07.8) Other specified congenital malformations of nervous system
- (Q07.9) Congenital malformation of nervous system, unspecified

Q00–Q89 – Congenital malformations and deformations

Q00–Q89 – Congenital malformations and deformations 1
- (Q00–Q07) nervous system 1.1
- (Q10–Q18) eye, ear, face and neck 1.2
  - Eye 1.2.1
  - Ear 1.2.2
  - Other face and neck 1.2.3
- (Q20–Q28) circulatory system 1.3
- (Q30–Q34) respiratory system 1.4
- (Q35–Q45) digestive system 1.5
- (Q50–Q56) genital organs 1.6
- (Q60–Q64) urinary system 1.7
- (Q65–Q79) musculoskeletal system 1.8
- (Q80–Q89) Other 1.9
Q90–Q99 – Chromosomal abnormalities, not elsewhere classified 2
Excludes 3
See also 4
References 5

. ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities This page contains [1]

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ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities