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

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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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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .

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