ICD-10 Chapter Q

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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

(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

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

(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

(Q16) Congenital malformations of ear causing impairment of hearing

(Q17) Other congenital malformations of ear
- (Q17.0) Accessory auricle
- (Q17.1) Macrotia
- (Q17.2) Microtia
- (Q17.3) Other misshapen ear
- (Q17.4) Misplaced ear
- (Q17.5) Prominent ear
- (Q17.8) Other specified congenital malformations of ear
- (Q17.9) Congenital malformation of ear, unspecified

(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

(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)

(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
- (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) Dystrophic 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

(Q80-Q89) Other

(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
- (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)

(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

Q90-Q99 - Chromosomal abnormalities, not elsewhere classified

(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
- (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

(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
- (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

v t e Congenital malformations and deformations of circulatory system (Q20-Q28, 745-747)
Cardiac chambers and connections	Persistent truncus arteriosus - Double outlet right ventricle (Taussig-Bing syndrome) - Transposition of the great vessels (dextro, levo)
Cardiac septa	Ventricular septal defect - Atrial septal defect (Lutembacher's syndrome) - Atrioventricular septal defect (Ostium primum) - Tetralogy of Fallot - Eisenmenger's syndrome
Right: pulmonary and tricuspid valves	pulmonary valves (stenosis, insufficiency) - tricuspid valves (stenosis, atresia) - Ebstein's anomaly
Left: aortic and mitral valves	aortic valves (stenosis, insufficiency, bicuspid) - mitral valves (stenosis, regurgitation) - Hypoplastic left heart syndrome
Other congenital malformations of heart	Dextrocardia - Levocardia - Cor triatriatum
Great arteries	aorta (Patent ductus arteriosus, Aortic coarctation, Interrupted aortic arch, Overriding aorta, Aneurysm of sinus of Valsalva, Vascular ring) - Pulmonary atresia
Great veins	Persistent left superior vena cava - Total anomalous pulmonary venous connection - Scimitar syndrome
Other	Arteriovenous malformation (Cerebral arteriovenous malformation)
See also non-congenital conditions (I, 390-459)

v t e Congenital malformations and deformations of sex organs (Q50-Q56 · 752)
Female	Template:Navbox subgroup
Male	Template:Navbox subgroup
SDS/DSD	Pseudohermaphroditism · True hermaphroditism · Mixed gonadal dysgenesis · Swyer syndrome · Persistent Mullerian duct syndrome
See also noncongenital, neoplasia

v t e Congenital malformations and deformations of musculoskeletal system (Q65-Q79, 754-756)
Limbs	hip: Dislocation of hip/Hip dysplasia - Upington disease feet (Club foot, Flat feet, Pes cavus) systemic dislocations Larsen syndrome head, face, spine and chest: skull, face and jaw (Dolichocephaly, Greig cephalopolysyndactyly syndrome, Plagiocephaly) - spine Scoliosis - chest (Pectus excavatum, Pectus carinatum) any combination head, face, jaw, upper limb, lower limb, pelvis, dactyly Antley-Bixler syndrome - Schmitt Gillenwater Kelly syndrome dactyly Polydactyly/Syndactyly (Webbed toes) - Cenani Lenz syndactylism reduction deficits (Acheiropodia, Amelia, Ectrodactyly, Phocomelia) upper limb (Cleidocranial dysostosis, Madelung's deformity, Sprengel's deformity, Wallis Zieff Goldblatt syndrome) knee (Genu valgum, Genu varum) other Arthrogryposis
Skull and facial bones	Carpenter syndrome - Craniodiaphyseal dysplasia - Craniosynostosis (Scaphocephaly) - Crouzon syndrome - Hypertelorism - Macrocephaly - Oxycephaly - Platybasia - Saethre-Chotzen syndrome - Treacher Collins syndrome - Trigonocephaly
Spine and bony thorax	Klippel-Feil syndrome - Spondylolisthesis - Cervical rib - Bifid rib
Osteochondrodysplasia	developement of cartilage, tubular bones and spine: Achondrogenesis/Hypochondrogenesis - Boomerang dysplasia - Thanatophoric dysplasia - Short rib-polydactyly syndrome - Chondrodysplasia punctata (Rhizomelic chondrodysplasia punctata, Conradi-Hünermann syndrome), Achondroplasia (Hypochondroplasia, Osteosclerosis congenita) - Ellis-van Creveld syndrome - Otospondylomegaepiphyseal dysplasia - Spondyloepiphyseal dysplasia congenita - Osteogenesis imperfecta - McCune-Albright syndrome - Osteopetrosis - Metaphyseal dysplasia - Recessive multiple epiphyseal dysplasia - Hereditary multiple exostoses - Osteopoikilosis - Chondrodystrophy - Osteodystrophy - Atelosteogenesis, type II - Diastrophic dysplasia
Other	abdominal wall (Congenital diaphragmatic hernia, Omphalocele, Gastroschisis, Prune belly syndrome) - Ehlers-Danlos syndrome
See also non-congenital conditions (M, 710-739)

v t e Congenital malformations and deformations of circulatory system (Q20-Q28, 745-747)
Cardiac chambers and connections	Persistent truncus arteriosus - Double outlet right ventricle (Taussig-Bing syndrome) - Transposition of the great vessels (dextro, levo)
Cardiac septa	Ventricular septal defect - Atrial septal defect (Lutembacher's syndrome) - Atrioventricular septal defect (Ostium primum) - Tetralogy of Fallot - Eisenmenger's syndrome
Right: pulmonary and tricuspid valves	pulmonary valves (stenosis, insufficiency) - tricuspid valves (stenosis, atresia) - Ebstein's anomaly
Left: aortic and mitral valves	aortic valves (stenosis, insufficiency, bicuspid) - mitral valves (stenosis, regurgitation) - Hypoplastic left heart syndrome
Other congenital malformations of heart	Dextrocardia - Levocardia - Cor triatriatum
Great arteries	aorta (Patent ductus arteriosus, Aortic coarctation, Interrupted aortic arch, Overriding aorta, Aneurysm of sinus of Valsalva, Vascular ring) - Pulmonary atresia
Great veins	Persistent left superior vena cava - Total anomalous pulmonary venous connection - Scimitar syndrome
Other	Arteriovenous malformation (Cerebral arteriovenous malformation)
See also non-congenital conditions (I, 390-459)

v t e Congenital malformations and deformations of sex organs (Q50-Q56 · 752)
Female	Template:Navbox subgroup
Male	Template:Navbox subgroup
SDS/DSD	Pseudohermaphroditism · True hermaphroditism · Mixed gonadal dysgenesis · Swyer syndrome · Persistent Mullerian duct syndrome
See also noncongenital, neoplasia

ICD-10 Chapter Q

Contents

Q00-Q89 - Congenital malformations and deformations

(Q00-Q07) nervous system

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

(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

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

(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

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