ICD-10 Chapter XVII: Congenital Malformations, Deformations And Chromosomal Abnormalities

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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 International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO).^[1] This page contains ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities.

1 Q00–Q89 – Congenital malformations and deformations
2 Q90–Q99 – Chromosomal abnormalities, not elsewhere classified
3 See also
4 References

Q00–Q89 – Congenital malformations and deformations [edit]

(Q00–Q07) nervous system [edit]

(Q00) Anencephaly and similar malformations
- (Q00.0) Anencephaly
- (Q 00.1) Craniorachischisis
- (Q 00.2) Iniencephaly
(Q 01) Encephalocele
(Q 02) Microcephaly
(Q03) Congenital hydrocephalus
- (Q 03.0) Malformations of aqueduct of Sylvius
- (Q03.1) Atresia of foramina of Magendie and Luschka
  - Dandy-Walker syndrome
- (Q 03.8) Other congenital hydrocephalus
- (Q 03.9) Congenital hydrocephalus, unspecified
(Q04) Other congenital malformations of brain
- (Q 04.0) Congenital malformations of corpus callosum
- (Q 04.1) Arhinencephaly
- (Q 04.2) Holoprosencephaly
- (Q04.3) Other reduction deformities of brain
  - Agyria and Lissencephaly (EUROCAT Q04.33)
  - Microgyria and Pachygyria (EUROCAT Q04.34)
  - Hydranencephaly (EUROCAT Q04.35)
- (Q 04.4) Septo-optic dysplasia
- (Q 04.5) Megalencephaly
- (Q04.6) Congenital cerebral cysts
  - Porencephaly
  - Schizencephaly
- (Q 04.8) Other specified congenital malformations of brain
- (Q 04.9) Congenital malformation of brain, unspecified
(Q05) Spina bifida
- - hydromeningocele (spinal)
  - meningocele(spinal)
  - meningomyelocele
  - myelocele
  - myelomeningocele
  - rachischisis
  - syringomyelocele
(Q06) Other congenital malformations of spinal cord
- (Q 06.0) Amyelia
- (Q 06.1) Hypoplasia and dysplasia of spinal cord
- (Q 06.2) Diastematomyelia
- (Q 06.3) Other congenital cauda equina malformations
- (Q 06.4) Hydromyelia
- (Q 06.8) Other specified congenital malformations of spinal cord
- (Q 06.9) Congenital malformation of spinal cord, unspecified
(Q07) Other congenital malformations of nervous system
- (Q 07.0) Arnold-Chiari syndrome
- (Q 07.8) Other specified congenital malformations of nervous system
- (Q 07.9) Congenital malformation of nervous system, unspecified

(Q10–Q18) eye, ear, face and neck [edit]

Eye [edit]

(Q10) Congenital malformations of eyelid, lacrimal apparatus and orbit
- (Q 10.0) Congenital ptosis
- (Q 10.1) Congenital ectropion
- (Q 10.2) Congenital entropion
- (Q10.3) Other congenital malformations of eyelid
  - Ablepharon
  - Blepharophimosis, congenital
  - Coloboma of eyelid
- (Q 10.4) Absence and agenesis of lacrimal apparatus
- (Q 10.5) Congenital stenosis and stricture of lacrimal duct
- (Q 10.6) Other congenital malformations of lacrimal apparatus
- (Q 10.7) Congenital malformation of orbit
(Q11) Anophthalmos, microphthalmos and macrophthalmos
- (Q 11.0) Cystic eyeball
- (Q 11.1) Other anophthalmos
- (Q 11.2) Microphthalmos
- (Q 11.3) Macrophthalmos
(Q12) Congenital lens malformations
- (Q 12.0) Congenital cataract
- (Q 12.1) Congenital displaced lens
- (Q 12.2) Coloboma of lens
- (Q 12.3) Congenital aphakia
- (Q 12.4) Spherophakia
- (Q 12.8) Other congenital lens malformations
- (Q 12.9) Congenital lens malformation, unspecified
(Q13) Congenital malformations of anterior segment of eye
- (Q 13.0) Coloboma of iris
- (Q13.1) Absence of iris
  - Aniridia
- (Q 13.2) Other congenital malformations of iris
- (Q 13.3) Congenital corneal opacity
- (Q 13.4) Other congenital corneal malformations
- (Q 13.5) Blue sclera
- (Q 13.8) Other congenital malformations of anterior segment of eye
- (Q 13.9) Congenital malformation of anterior segment of eye, unspecified
(Q14) Congenital malformations of posterior segment of eye
- (Q 14.0) Congenital malformation of vitreous humour
- (Q 14.1) Congenital malformation of retina
- (Q14.2) Congenital malformation of optic disc
  - Coloboma of optic disc
- (Q 14.3) Congenital malformation of choroid
- (Q14.8) Other congenital malformations of posterior segment of eye
  - Coloboma of the fundus
- (Q 14.9) 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

Ear [edit]

(Q 16) 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
- (Q 17.1) Macrotia
- (Q 17.2) Microtia
- (Q17.3) Other misshapen ear
  - Pointed ear
- (Q17.4) Misplaced ear
  - Low-set ears
- (Q17.5) Prominent ear
  - Bat ear
- (Q 17.8) Other specified congenital malformations of ear
- (Q 17.9) Congenital malformation of ear, unspecified

Other face and neck [edit]

(Q18) Other congenital malformations of face and neck
- (Q 18.0) Sinus, fistula and cyst of branchial cleft
- (Q 18.1) Preauricular sinus and cyst
- (Q18.2) Other branchial cleft malformations
  - Otocephaly
- (Q 18.3) Webbing of neck
- (Q 18.4) Macrostomia
- (Q 18.5) Microstomia
- (Q 18.6) Macrocheilia
- (Q 18.7) Microcheilia
- (Q 18.8) Other specified congenital malformations of face and neck
- (Q 18.9) Congenital malformation of face and neck, unspecified

Q90–Q99 – Chromosomal abnormalities, not elsewhere classified [edit]

(Q90) Down's syndrome
- (Q 90.0) Trisomy 21, meiotic nondisjunction
- (Q 90.1) Trisomy 21, mosaicism (mitotic nondisjunction)
- (Q 90.2) Trisomy 21, translocation
- (Q 90.9) Down's syndrome, unspecified
(Q91) Trisomy 18 and Trisomy 13
- (Q 91.0) Trisomy 18, meiotic nondisjunction
- (Q 91.1) Trisomy 18, mosaicism (mitotic nondisjunction)
- (Q 91.2) Trisomy 18, translocation
- (Q 91.3) Edwards' syndrome, unspecified
- (Q 91.4) Trisomy 13, meiotic nondisjunction
- (Q 91.5) Trisomy 13, mosaicism (mitotic nondisjunction)
- (Q 91.6) Trisomy 13, translocation
- (Q 91.7) Patau's syndrome, unspecified
(Q92) Other trisomies and partial trisomies of the autosomes, not elsewhere classified
- Trisomy 9
- Warkany syndrome 2
- (Q 92.0) Whole chromosome trisomy, meiotic nondisjunction
- (Q 92.1) Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
- (Q 92.2) Major partial trisomy
- (Q 92.3) Minor partial trisomy
- (Q 92.4) Duplications seen only at prometaphase
- (Q 92.5) Duplications with other complex rearrangements
- (Q 92.6) Extra marker chromosomes
- (Q 92.7) Triploidy and polyploidy
- (Q 92.8) Other specified trisomies and partial trisomies of autosomes
- (Q 92.9) Trisomy and partial trisomy of autosomes, unspecified
(Q93) Monosomies and deletions from the autosomes, not elsewhere classified
- (Q 93.0) Whole chromosome monosomy, meiotic nondisjunction
- (Q 93.1) Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
- (Q 93.2) 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
- (Q 93.6) Deletion seen only at prometaphase
- (Q 93.7) Deletions with other complex rearrangements
- (Q 93.8) Other deletions from the autosomes
- (Q 93.9) Deletion from autosomes, unspecified
(Q95) Balanced rearrangements and structural markers, not elsewhere classified
- Robertsonian and balanced reciprocal translocations and insertions
- (Q 95.0) Balanced translocation and insertion in normal individual
- (Q 95.1) Chromosome inversion in normal individual
- (Q 95.2) Balanced autosomal rearrangement in abnormal individual
- (Q 95.3) Balanced sex/autosomal rearrangement in abnormal individual
- (Q 95.4) Individuals with marker heterochromatin
- (Q 95.5) Individuals with autosomal fragile site
- (Q 95.8) Other balanced rearrangements and structural markers
- (Q 95.9) Balanced rearrangement and structural marker, unspecified
(Q96) Turner syndrome
- (Q 96.0) Karyotype 45,X
- (Q 96.1) Karyotype 46,X iso (Xq)
- (Q 96.2) Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
- (Q 96.3) Mosaicism, 45,X/46,XX or XY
- (Q 96.4) Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
- (Q 96.8) Other variants of Turner's syndrome
- (Q 96.9) Turner's syndrome, unspecified
(Q97) Other sex chromosome abnormalities, female phenotype, not elsewhere classified
- (Q 97.0) Karyotype 47,XXX
- (Q 97.1) Female with more than three X chromosomes
- (Q 97.2) Mosaicism, lines with various numbers of X chromosomes
- (Q 97.3) Female with 46,XY karyotype
- (Q 97.8) Other specified sex chromosome abnormalities, female phenotype
- (Q 97.9) Sex chromosome abnormality, female phenotype, unspecified
(Q98) Other sex chromosome abnormalities, male phenotype, not elsewhere classified
- (Q 98.0) Klinefelter's syndrome karyotype 47,XXY
- (Q 98.1) Klinefelter's syndrome, male with more than two X chromosomes
- (Q 98.2) Klinefelter's syndrome, male with 46,XX karyotype
- (Q 98.3) Other male with 46,XX karyotype – XX male syndrome
- (Q 98.4) Klinefelter's syndrome, unspecified
- (Q 98.5) Karyotype 47,XYY
- (Q 98.6) Male with structurally abnormal sex chromosome
- (Q 98.7) Male with sex chromosome mosaicism
- (Q 98.8) Other specified sex chromosome abnormalities, male phenotype
- (Q 98.9) Sex chromosome abnormality, male phenotype, unspecified
(Q99) Other chromosome abnormalities, not elsewhere classified
- (Q 99.0) Chimera 46,XX/46,XY
- (Q99.1) 46,XX true hermaphrodite
- (Q99.2) Fragile X chromosome
  - Fragile X syndrome
- (Q 99.8) Other specified chromosome abnormalities
- (Q 99.9) Chromosomal abnormality, unspecified

References [edit]

^ WHO | International Classification of Diseases (ICD)

Pathology: Medical conditions and ICD code

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

(A/B, 001–139)

Infectious disease/Infection: Bacterial disease (G+, G-) · Virus disease · Parasitic disease (Protozoan infection, Helminthiasis, Ectoparasitic infestation) · Mycosis · Zoonosis

(C/D,
140–239 &
279–289)

Cancer (C00–D48, 140–239)	Tumor

Myeloid hematologic (D50–D77, 280–289)	Anemia · Coagulopathy

Lymphoid immune (D80–D89, 279)	Immunodeficiency · Immunoproliferative disorder · Hypersensitivity

(E, 240–278)

Endocrine disease · Nutrition disorder · Inborn error of metabolism

(F, 290–319)

Mental disorder

(G, 320–359)

Nervous system disease (CNS, PNS) · Neuromuscular disease

(H, 360–389)

Eye disease · Ear disease

(I, 390–459)

Cardiovascular disease (Heart disease, Vascular disease)

(J, 460–519)

Respiratory disease (Obstructive lung disease, Restrictive lung disease, Pneumonia)

(K, 520–579)

Stomatognathic disease (Tooth disease) · Digestive disease (Esophageal, Stomach, Enteropathy, Liver, Pancreatic)

(L, 680–709)

Skin disease · skin appendages (Nail disease, Hair disease, Sweat gland disease)

(M, 710–739)

Musculoskeletal disorders: Myopathy · Arthropathy · Osteochondropathy (Osteopathy, Chondropathy)

(N, 580–629)

Urologic disease (Nephropathy, Urinary bladder disease) · Male genital disease · Breast disease · Female genital disease

(O, 630–679)

Complications of pregnancy · Obstetric labor complication · Puerperal disorder

(P, 760–779)

Fetal disease

(Q, 740–759)

Congenital disorder (Congenital abnormality)

(R, 780–799)

Syndromes · Medical signs (Eponymous)

(S/T, 800–999)

Bone fracture · Joint dislocation · Sprain · Strain · Subluxation · Head injury · Chest trauma · Poisoning

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

M: CNS

anat (n/s/m/p/4/e/b/d/c/a/f/l/g)/phys/devp

noco (m/d/e/h/v/s)/cong/tumr, sysi/epon, injr

proc, drug (N1A/2AB/C/3/4/7A/B/C/D)

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

M: EYE

anat (g/a/p)/phys/devp/prot

noco/cong/tumr, epon

proc, drug (S1A/1E/1F/1L)

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

Size

Position

Low-set ears

Other

Accessory auricle

M: EAR

anat (e/p)/phys/devp

noco/cong, epon

proc, drug (S2)

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

M: MOU

anat/devp

noco/cofa (c)/cogi/tumr, sysi

proc (peri), drug (A1)

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

M: HRT

anat/phys/devp

noco/cong/tumr, sysi/epon, injr

proc, drug (C1A/1B/1C/1D), blte

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

M: VAS

anat (a:h/u/t/a/l,v:h/u/t/a/l)/phys/devp/cell/prot

noco/syva/cong/lyvd/tumr, sysi/epon, injr

proc, drug (C2s+n/3/4/5/7/8/9)

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

M: RES

anat (n, x, l, c)/phys/devp

noco (c, p)/cong/tumr, sysi/epon, injr

proc, drug (R1/2/3/5/6/7)

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 Persistent cloaca

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

M: MOU

anat/devp

noco/cofa (c)/cogi/tumr, sysi

proc (peri), drug (A1)

M: DIG

anat (t, g, p)/phys/devp/enzy

noco/cong/tumr, sysi/epon

proc, drug (A2A/2B/3/4/5/6/7/14/16), blte

Female congenital anomalies of the genitalia, including Intersex and DSD: (Q50–Q52; 752.0–752.4)

Internal

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

Vagina	Vaginal septum Vaginal atresia

External

M: ♀ FRS

anat/phys/devp

noco/cong/npls, sysi/epon

proc/asst, drug (G1/G2B/G3CD)

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

M: URI

anat/phys/devp/cell

noco/acba/cong/tumr, sysi/epon, urte

proc/itvp, drug (G4B), blte, urte

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

M: JNT

anat (h/c, u, t, l)/phys

noco (arth/defr/back/soft)/cong, sysi/epon, injr

proc, drug (M01C, M4)

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	Achondrogenesis (type 2) · Hypochondrogenesis

SLC26A2 sulfation defect	Achondrogenesis (type 1B) · Recessive multiple epiphyseal dysplasia · Atelosteogenesis, type II · Diastrophic dysplasia

Chondrodysplasia punctata	Rhizomelic chondrodysplasia punctata · Conradi-Hünermann syndrome

Other dwarfism	Fibrochondrogenesis · Short rib-polydactyly syndrome (Majewski's polydactyly syndrome) · Léri-Weill dyschondrosteosis

M: BON/CAR

anat (c/f/k/f, u, t/p, l)/phys/devp/cell

noco/cong/tumr, sysi/epon, injr

proc, drug (M5)

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

M: MUS, DF+DRCT

anat (h/n, u, t/d, a/p, l)/phys/devp/hist

noco (m, s, c)/cong (d)/tumr, sysi/epon, injr

proc, drug (M1A/3)

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 Template:Congenital malformations and deformations of skin appendages, Template:Phakomatoses, Template:Pigmentation disorders, Template:DNA replication and repair-deficiency disorder

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

M: INT, SF, LCT

anat/phys/devp

noco (i/b/d/q/u/r/p/m/k/v/f)/cong/tumr (n/e/d), sysi/epon

proc, drug (D2/3/4/5/8/11)

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

M: SKA

anat/phys/devp

noco/cong/tumr, sysi/epon

proc, drug (D10)

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

Breast

Nipple

M: BRE

anat/phys/devp

noco/cong/tumr

proc

v t e 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

v t e Congenital malformation due to exogenous toxicity (Q86, 760.7)

Alcohol	Fetal alcohol syndrome Fetal alcohol spectrum disorder

Other	Fetal warfarin syndrome Fetal hydantoin syndrome Prenatal cocaine exposure Retinoic Acid

v t e Congenital abnormality · multiple abnormalities (Q87, 759.7)

Craniofacial	Acrocephalosyndactylia (Apert syndrome/Pfeiffer syndrome, Saethre–Chotzen syndrome, Carpenter syndrome, Sakati–Nyhan–Tisdale syndrome) other: Möbius syndrome · Goldenhar syndrome · Cyclopia

Short stature	1q21.1 deletion syndrome · Aarskog–Scott syndrome · Cockayne syndrome · Cornelia de Lange Syndrome · Dubowitz syndrome · Noonan syndrome · Robinow syndrome · Silver–Russell syndrome · Seckel syndrome · Smith–Lemli–Opitz syndrome · Turner syndrome

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	Beckwith–Wiedemann syndrome · Sotos syndrome · Weaver syndrome · Perlman syndrome

Laurence–Moon–Bardet–Biedl	Bardet–Biedl syndrome · Laurence–Moon syndrome

Combined/other, known locus	3 (Zimmerman–Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) · 12 (Keutel syndrome, Timothy syndrome) · 15 (Marfan syndrome) · 19 (Donohue syndrome)

Lymphatic disease: Congenital lymphatic organ disorders (Q89.0/Q89.2, 759.0/759.2)

Thymus

Spleen

M: LMO

anat (h, u, t, a, l)/phys/devp

noco/cong/tumr

proc

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

Pancreas

see congenital digestive

Hypothalamic/
pituitary axes
+parathyroid

Pituitary	Congenital hypopituitarism

Thyroid	Persistent thyroglossal duct Thyroglossal cyst Congenital hypothyroidism: Thyroid dysgenesis Thyroid dyshormonogenesis Pendred syndrome

Parathyroid	Congenital absence of parathyroid

Adrenal	Absent adrenal gland

Gonads	see congenital reproductive

M: END

anat/phys/devp/horm

noco (d)/cong/tumr, sysi/epon

proc, drug (A10/H1/H2/H3/H5)

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

Zygosity	Twin Half twin

Monochorionic twins	Twin-to-twin transfusion syndrome Twin reversed arterial perfusion Monoamniotic twins

Conjoined twins	Parasitic twin (Craniopagus parasiticus, Fetus in fetu)

Other	Vanishing twin Chimerism Mixed twins

Pathology: chromosome abnormalities (Q90–Q99, 758)

Autosomal

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

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 46,XX/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

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ICD-10 Chapter XVII: Congenital Malformations, Deformations And Chromosomal Abnormalities Research Materials

Contents

Q00–Q89 – Congenital malformations and deformations [edit]

(Q00–Q07) nervous system [edit]

(Q10–Q18) eye, ear, face and neck [edit]

Eye [edit]

Ear [edit]

Other face and neck [edit]

(Q20–Q28) circulatory system [edit]

(Q30–Q34) respiratory system [edit]

(Q35–Q45) digestive system [edit]

(Q50–Q56) genital organs [edit]

(Q60–Q64) urinary system [edit]

(Q65–Q79) musculoskeletal system [edit]

(Q80–Q89) Other [edit]

Q90–Q99 – Chromosomal abnormalities, not elsewhere classified [edit]

See also [edit]

References [edit]

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