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

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]



Q00-Q89 - Congenital malformations and deformations

(Q00-Q07) nervous system

(Q10-Q18) eye, ear, face and neck

  • (Q16.) Congenital malformations of ear causing impairment of hearing

(Q20-Q28) circulatory system

(Q30-Q34) respiratory system

(Q35-Q45) digestive system

(Q50-Q56) genital organs

(Q60-Q64) urinary system

(Q65-Q79) musculoskeletal system

(Q80-Q89) Other

Q90-Q99 - Chromosomal abnormalities, not elsewhere classified

See also

v • d • e
Congenital malformations and deformations of nervous system (Q00-Q07, 740-742)
BrainAnencephaly (Acephaly, Acrania, Iniencephaly) - Encephalocele - Microcephaly - Congenital hydrocephalus (Dandy-Walker syndrome) - other reduction deformities (Holoprosencephaly, Lissencephaly, Pachygyria, Hydranencephaly) - Septo-optic dysplasia - Megalencephaly - Congenital cerebral cysts (Porencephaly, Schizencephaly) - Congenital brain tumors
Brain stemArnold-Chiari malformation
Spinal cordSpina bifida - Currarino syndrome - Sacrococcygeal teratoma - Diastematomyelia - Syringomyelia
see also non-congenital CNS and PNS (G, 320-359)
v • d • e
Congenital malformations and deformations of eye, ear, face and neck (Q10-Q18, 743-744)
Eyeseyelid, lacrimal apparatus and orbit: Ptosis - Ectropion - Entropion - Distichia - Blepharophimosis - Congenital lacrimal duct obstruction

entire eye: Anophthalmia - Microphthalmia

lens: Ectopia lentis - Aphakia

Aniridia - Axenfeld syndrome - Buphthalmos - Coloboma - Hydrophthalmos - Keratoglobus - Zazam Sheriff Phillips syndrome
EarsMicrotia
Other face and neckOtocephaly - Webbed neck - Microstomia - Macrocheilia
See also non-congenital eye and ear
v • d • e
Congenital malformations and deformations of respiratory system (Q30-Q34, 748)
NoseChoanal atresia
LarynxLaryngocele - Laryngomalacia
Trachea and bronchusTracheomalacia
LungBronchiectasis - Pulmonary sequestration - Congenital cystic adenomatoid malformation
see also non-congenital (J, 460-519)
v • d • e
Congenital malformations and deformations of digestive system (Q35-Q45, 749-751)
Tongue, mouth and pharynxCleft lip and palate - Van der Woude syndrome - Ankyloglossia - Macroglossia - Pharyngeal pouch
Esophagus and upper alimentary tractEsophageal atresia - Tracheoesophageal fistula - Esophageal web - Pyloric stenosis - Hiatus hernia
IntestinesIntestinal atresia (Duodenal atresia) - Imperforate anus - Meckel's diverticulum - Hirschsprung's disease - Intestinal malrotation - Persistent cloaca
PancreasAnnular pancreas - Accessory pancreas - Pancreas divisum
OtherCholedochal cysts - Alagille syndrome
See also non-congenital (K20-K93, 530-579)
v • d • e
Congenital malformations and deformations of sex organs (Q50-Q56 · 752)
Female
Uterine malformation Müllerian agenesis · Unicornuate uterus · Uterus didelphys · Bicornuate uterus · Uterine septum · Arcuate uterus
Other Vaginal septum · Clitoromegaly
Male
Testicle Cryptorchidism · Polyorchidism · Monorchism · Anorchia
Penis Hypospadias · Chordee · Micropenis · Macropenis · Penile agenesis · Diphallia
SDS/DSDPseudohermaphroditism · True hermaphroditism · Mixed gonadal dysgenesis · Swyer syndrome · Persistent Mullerian duct syndrome
See also noncongenital, neoplasia


v • d • e
Congenital malformations and deformations of integument (Q80-Q84, 757)
Congenital ichthyosisEpidermolytic hyperkeratosis - Harlequin type ichthyosis - Ichthyosis lamellaris - Ichthyosis vulgaris - Netherton's syndrome - X-linked ichthyosis - Zunich-Kaye syndrome
Epidermolysis bullosaEpidermolysis bullosa simplex - Epidermolysis bullosa dystrophica
Other skin diseaseHereditary lymphedema - Mastocytosis - Urticaria pigmentosa - Incontinentia pigmenti - Ectodermal dysplasia - EEM syndrome - Hay-Wells syndrome - Kindler syndrome - Port-wine stain - Cutis laxa - Darier's disease - Pseudoxanthoma elasticum
DNA repair-deficiency disorder: Bloom syndrome - Rothmund-Thomson syndrome - Xeroderma pigmentosum
Nail diseaseLeukonychia - Pachyonychia congenita
Malformations of breastAmastia - Accessory breast - Athelia - Supernumerary nipple - Micromastia
Hair diseaseMonilethrix - Sabinas brittle hair syndrome
see also non-congenital (L, 680-709)
v • d • e
Phakomatoses and other congenital malformations not elsewhere classified (Q85-Q89, 759)
PhakomatosesAbdallat Davis Farrage syndrome - Ataxia telangiectasia - Incontinentia pigmenti - Neurofibromatosis (type I, type II) - Peutz-Jeghers syndrome - Sturge-Weber syndrome - Tuberous sclerosis - Von Hippel-Lindau disease
Due to known exogenous causesFetal alcohol syndrome - Phocomelia (via Thalidomide)
Affecting multiple systemsfacial (Mobius syndrome, Goldenhar syndrome, Cyclopia, Apert syndrome)

short stature (Aarskog-Scott syndrome, Cockayne syndrome, Cornelia de Lange Syndrome, Dubowitz syndrome, Noonan syndrome, Robinow syndrome, Silver-Russell dwarfism, Seckel syndrome, Smith-Lemli-Opitz syndrome)

limbs (Adducted thumb syndrome, Holt-Oram syndrome, Klippel-Trenaunay-Weber syndrome, Nail-patella syndrome, Rubinstein-Taybi syndrome, Sirenomelia, VACTERL association)

overgrowth (Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome)

combined/other Ablepharon macrostomia syndrome - Alport syndrome - Bardet-Biedl syndrome - Branchio-oto-renal syndrome - Donohue syndrome - Fraser syndrome - Keutel syndrome - Marfan syndrome - Timothy syndrome - Urban-Rogers-Meyer syndrome - Vici syndrome - Yunis-Varon syndrome - Zellweger syndrome - Zimmerman-Laband syndrome - Zori Stalker Williams syndrome
Otherspleen: Asplenia - Splenomegaly

endocrine glands: Persistent thyroglossal duct - Thyroglossal cyst

Conjoined twins - Cowden syndrome - Hamartoma - Impossible syndrome - Situs inversus
v • d • e
Pathology: chromosome abnormalities (Q90-Q99, 758)
Autosomal trisomiesDown syndrome (21), Edwards syndrome (18), Patau syndrome (13), Trisomy 9, Warkany syndrome 2 (8), Cat eye syndrome (22), Trisomy 22, Trisomy 16
Autosomal monosomies/deletionsWolf-Hirschhorn syndrome (4), Cri du chat (5), Angelman syndrome/Prader-Willi syndrome (15),
Miller-Dieker syndrome/Smith-Magenis syndrome (17), 22q11.2 deletion syndrome (22)
X/Y linkedMonosomy: Turner syndrome (XO)

Trisomy: Triple X syndrome (XXX), Klinefelter's syndrome (XXY), XYY,

Other Karyotypes: XXXX, XXYY, XXXXX, XXXXY
TranslocationsPhiladelphia chromosome, Burkitt's lymphoma
OtherFragile X syndrome, Gonadal dysgenesis (Mixed gonadal dysgenesis)
th:ICD-10 บท Q: รูปวิปริตแต่กำเนิด การแปลงรูปและโครโมโซมผิดปกติ


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