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Q00-Q89 - Congenital malformations and deformationsEdit

(Q00-Q07) nervous system Edit

(Q00) Anencephaly and similar malformations
- (Q000) Anencephaly
- (Q 001) Craniorachischisis
- (Q 002) Iniencephaly

(Q 01) Encephalocele
(Q 02) Microcephaly
(Q03) Congenital hydrocephalus
- (Q 030) Malformations of aqueduct of Sylvius
- (Q031) Atresia of foramina of Magendie and Luschka
  - Dandy-Walker syndrome
- (Q 038) Other congenital hydrocephalus
- (Q 039) Congenital hydrocephalus, unspecified

(Q04) Other congenital malformations of brain
- (Q 040) Congenital malformations of corpus callosum
- (Q 041) Arhinencephaly
- (Q 042) Holoprosencephaly
- (Q043) Other reduction deformities of brain
  - Agyria and Lissencephaly (EUROCAT Q04.33)
  - Microgyria and Pachygyria (EUROCAT Q04.34)
  - Hydranencephaly (EUROCAT Q04.35)
- (Q 044) Septo-optic dysplasia
- (Q 045) Megalencephaly
- (Q046) Congenital cerebral cysts
  - Porencephaly
  - Schizencephaly
- (Q 048) Other specified congenital malformations of brain
- (Q 049) Congenital malformation of brain, unspecified

(Q 05) Spina bifida

(Q06) Other congenital malformations of spinal cord
- (Q 060) Amyelia
- (Q 061) Hypoplasia and dysplasia of spinal cord
- (Q 062) Diastematomyelia
- (Q 063) Other congenital cauda equina malformations
- (Q 064) Hydromyelia
- (Q 068) Other specified congenital malformations of spinal cord
- (Q 069) Congenital malformation of spinal cord, unspecified

(Q07) Other congenital malformations of nervous system
- (Q 070) Arnold-Chiari syndrome
- (Q 078) Other specified congenital malformations of nervous system
- (Q 079) Congenital malformation of nervous system, unspecified

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

(Q10) Congenital malformations of eyelid, lacrimal apparatus and orbit
- (Q 100) Congenital ptosis
- (Q 101) Congenital ectropion
- (Q 102) Congenital entropion
- (Q103) Other congenital malformations of eyelid
  - Ablepharon
  - Blepharophimosis, congenital
  - Coloboma of eyelid
- (Q 104) Absence and agenesis of lacrimal apparatus
- (Q 105) Congenital stenosis and stricture of lacrimal duct
- (Q 106) Other congenital malformations of lacrimal apparatus
- (Q 107) Congenital malformation of orbit

(Q11) Anophthalmos, microphthalmos and macrophthalmos
- (Q 110) Cystic eyeball
- (Q 111) Other anophthalmos
- (Q 112) Microphthalmos
- (Q 113) Macrophthalmos

(Q12) Congenital lens malformations
- (Q 120) Congenital cataract
- (Q 121) Congenital displaced lens
- (Q 122) Coloboma of lens
- (Q 123) Congenital aphakia
- (Q 124) Spherophakia
- (Q 128) Other congenital lens malformations
- (Q 129) Congenital lens malformation, unspecified

(Q13) Congenital malformations of anterior segment of eye
- (Q 130) Coloboma of iris
- (Q131) Absence of iris
  - Aniridia
- (Q 132) Other congenital malformations of iris
- (Q 133) Congenital corneal opacity
- (Q 134) Other congenital corneal malformations
- (Q 135) Blue sclera
- (Q 138) Other congenital malformations of anterior segment of eye
- (Q 139) Congenital malformation of anterior segment of eye, unspecified

(Q14) Congenital malformations of posterior segment of eye
- (Q 140) Congenital malformation of vitreous humour
- (Q 141) Congenital malformation of retina
- (Q142) Congenital malformation of optic disc
  - Coloboma of optic disc
- (Q 143) Congenital malformation of choroid
- (Q148) Other congenital malformations of posterior segment of eye
  - Coloboma of the fundus
- (Q 149) Congenital malformation of posterior segment of eye, unspecified

(Q15) Other congenital malformations of eye
- (Q150) Congenital glaucoma
  - Buphthalmos
  - Glaucoma of newborn
  - Hydrophthalmos
  - Keratoglobus, congenital, with glaucoma
  - Macrocornea with glaucoma
  - Macrophthalmos in congenital glaucoma
  - Megalocornea with glaucoma

(Q 16) Congenital malformations of ear causing impairment of hearing

(Q17) Other congenital malformations of ear
- (Q 170) Accessory auricle
- (Q 171) Macrotia
- (Q 172) Microtia
- (Q 173) Other misshapen ear
- (Q 174) Misplaced ear
- (Q 175) Prominent ear
- (Q 178) Other specified congenital malformations of ear
- (Q 179) Congenital malformation of ear, unspecified

(Q18) Other congenital malformations of face and neck
- (Q 180) Sinus, fistula and cyst of branchial cleft
- (Q 181) Preauricular sinus and cyst
- (Q182) Other branchial cleft malformations
  - Otocephaly
- (Q 183) Webbing of neck
- (Q 184) Macrostomia
- (Q 185) Microstomia
- (Q 186) Macrocheilia
- (Q 187) Microcheilia
- (Q 188) Other specified congenital malformations of face and neck
- (Q 189) Congenital malformation of face and neck, unspecified

(Q73) Reduction defects of unspecified limb
- (Q730) Congenital absence of unspecified limb(s)
  - Amelia NOS
- (Q 731) Phocomelia, unspecified limb(s)
- (Q 738) Other reduction defects of unspecified limb(s)

(Q74) Other congenital malformations of limb(s)
- (Q740) Other congenital malformations of upper limb(s), including shoulder girdle
- (Q741) Congenital malformation of knee
  - genu valgum
  - genu varum
- (Q 742) Other congenital malformations of lower limb(s), including pelvic girdle
- (Q 743) Arthrogryposis multiplex congenita
- (Q 748) Other specified congenital malformations of limb(s)
- (Q 749) Unspecified congenital malformation of limb(s)

(Q75) Other congenital malformations of skull and face bones
- (Q 750) Craniosynostosis
- (Q 751) Craniofacial dysostosis
- (Q 752) Hypertelorism
- (Q 753) Macrocephaly
- (Q754) Mandibulofacial dysostosis
  - Franceschetti syndrome
  - Treacher-Collins syndrome
- (Q 755) Oculomandibular dysostosis
- (Q758) Other specified congenital malformations of skull and face bones
  - Absence of skull bone, congenital
  - Congenital deformity of forehead
  - Platybasia
- (Q 759) Congenital malformation of skull and face bones, unspecified

(Q76) Congenital malformations of spine and bony thorax
- (Q 760) Spina bifida occulta
- (Q 761) Klippel-Feil syndrome
- (Q 762) Congenital spondylolisthesis
- (Q 763) Congenital scoliosis due to congenital bony malformation
- (Q 764) Other congenital malformations of spine, not associated with scoliosis
- (Q 765) Cervical rib
- (Q 766) Other congenital malformations of ribs
- (Q767) Congenital malformation of sternum
  - Congenital absence of sternum
  - Sternum bifidum
- (Q 768) Other congenital malformations of bony thorax
- (Q 769) Congenital malformation of bony thorax, unspecified

(Q77) Osteochondrodysplasia with defects of growth of tubular bones and spine
- (Q770) Achondrogenesis
  - Hypochondrogenesis
- (Q 771) Thanatophoric short stature
- (Q772) Short rib syndrome
  - Asphyxiating thoracic dysplasia (Jeune)
- (Q 773) Chondrodysplasia punctata
- (Q774) Achondroplasia
  - Hypochondroplasia
  - Osteosclerosis congenita
- (Q 775) Dystrophic dysplasia
- (Q776) Chondroectodermal dysplasia
  - Ellis-van Creveld syndrome
- (Q 777) Spondyloepiphyseal dysplasia
- (Q 778) Other osteochondrodysplasia with defects of growth of tubular bones and spine
- (Q 779) Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified

(Q78) Other osteochondrodysplasias
- (Q780) Osteogenesis imperfecta
  - Fragilitas ossium
  - Osteopsathyrosis
- (Q781) Polyostotic fibrous dysplasia
  - Albright(-McCune)(-Sternberg) syndrome
- (Q782) Osteopetrosis
  - Albers-Schönberg syndrome
- (Q783) Progressive diaphyseal dysplasia
  - Camurati-Engelmann syndrome
- (Q784) Enchondromatosis
  - Maffucci's syndrome
  - Ollier's disease
- (Q785) Metaphyseal dysplasia
  - Pyle's syndrome
- (Q786) Multiple congenital exostoses
  - Diaphyseal aclasis
- (Q788) Other specified osteochondrodysplasias
  - Osteopoikilosis
- (Q789) Osteochondrodysplasia, unspecified
  - Chondrodystrophy NOS
  - Osteodystrophy NOS

(Q79) Congenital malformations of the musculoskeletal system, not elsewhere classified
- (Q 790) Congenital diaphragmatic hernia
- (Q 791) Other congenital malformations of diaphragm
- (Q792) Exomphalos
  - Omphalocele
- (Q 793) Gastroschisis
- (Q 794) Prune belly syndrome
- (Q 795) Other congenital malformations of abdominal wall
- (Q 796) Ehlers-Danlos syndrome
- (Q798) Other congenital malformations of musculoskeletal system
- (Q 799) Congenital malformation of musculoskeletal system, unspecified

(Q80-Q89) Other Edit

(Q80) Congenital ichthyosis
- (Q 800) Ichthyosis vulgaris
- (Q 801) X-linked ichthyosis
- (Q 802) Lamellar ichthyosis
- (Q 803) Congenital bullous ichthyosiform erythroderma
- (Q 804) Harlequin fetus
- (Q 808) Other congenital ichthyosis
- (Q 809) Congenital ichthyosis, unspecified

(Q81) Epidermolysis bullosa
- (Q 810) Epidermolysis bullosa simplex
- (Q 811) Epidermolysis bullosa letalis
- (Q 812) Epidermolysis bullosa dystrophica
- (Q 818) Other epidermolysis bullosa
- (Q 819) Epidermolysis bullosa, unspecified

(Q82) Other congenital malformations of skin
- (Q 820) Hereditary lymphoedema
- (Q 821) Xeroderma pigmentosum
- (Q822) Mastocytosis
  - Urticaria pigmentosa
- (Q 823) Incontinentia pigmenti
- (Q 824) Ectodermal dysplasia (anhidrotic)
- (Q825) Congenital non-neoplastic naevus
- (Q828) Other specified congenital malformations of skin
- (Q 829) Congenital malformation of skin, unspecified

(Q83) Congenital malformations of breast
- (Q 831) Accessory breast
- (Q833) Accessory nipple
  - Supernumerary nipple

(Q84) Other congenital malformations of integument
- (Q 840) Congenital alopecia
- (Q841) Congenital morphological disturbances of hair, not elsewhere classified
  - Beaded hair
  - Monilethrix
  - Pili annulati
  - Trichothiodystrophy (ILDS Q84.169)

- (Q 842) Other congenital malformations of hair
- (Q 843) Anonychia
- (Q 844) Congenital leukonychia
- (Q 845) Enlarged and hypertrophic nails
- (Q 846) Other congenital malformations of nails
- (Q 848) Other specified congenital malformations of integument
- (Q 849) Congenital malformation of integument, unspecified

(Q85) Phakomatoses, not elsewhere classified
- (Q850) Neurofibromatosis (nonmalignant)
  - Von Recklinghausen's disease (ILDS Q85.010)
  - Neurofibromatosis II (ILDS Q85.020)
  - Neurofibromatosis, segmental (ILDS Q85.030)
- (Q851) Tuberous sclerosis
  - Bourneville's disease
- (Q858) Other phakomatoses, not elsewhere classified
  - Sturge-Weber syndrome (EUROCAT Q85.81)
  - von Hippel-Lindau disease (EUROCAT Q85.82)
- (Q859) Phakomatosis, unspecified
  - Hamartosis NOS

(Q86) Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
- (Q 860) Fetal alcohol syndrome (dysmorphic)

(Q87) Other specified congenital malformation syndromes affecting multiple systems
- (Q870) Congenital malformation syndromes predominantly affecting facial appearance

- (Q871) 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)
- (Q872) 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
- (Q873) Congenital malformation syndromes involving early overgrowth
- (Q 874) Marfan's syndrome
- (Q 875) Other congenital malformation syndromes with other skeletal changes
- (Q878) 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
- (Q890) Congenital malformations of spleen
  - Asplenia (congenital)
  - Congenital splenomegaly
- (Q 891) Congenital malformations of adrenal gland
- (Q892) Congenital malformations of other endocrine glands
- (Q 893) Situs inversus
- (Q 894) Conjoined twins
- (Q 897) Multiple congenital malformations, not elsewhere classified
- (Q 898) Other specified congenital malformations
- (Q 899) Congenital malformation, unspecified

Q90-Q99 - Chromosomal abnormalities, not elsewhere classified Edit

(Q90) Down's syndrome
- (Q 900) Trisomy 21, meiotic nondisjunction
- (Q 901) Trisomy 21, mosaicism (mitotic nondisjunction)
- (Q 902) Trisomy 21, translocation
- (Q 909) Down's syndrome, unspecified

(Q91) Trisomy 18 and Trisomy 13
- (Q 910) Trisomy 18, meiotic nondisjunction
- (Q 911) Trisomy 18, mosaicism (mitotic nondisjunction)
- (Q 912) Trisomy 18, translocation
- (Q 913) Edwards' syndrome, unspecified
- (Q 914) Trisomy 13, meiotic nondisjunction
- (Q 915) Trisomy 13, mosaicism (mitotic nondisjunction)
- (Q 916) Trisomy 13, translocation
- (Q 917) Patau's syndrome, unspecified

(Q92) Other trisomies and partial trisomies of the autosomes, not elsewhere classified
- Trisomy 9
- Warkany syndrome 2
- (Q 920) Whole chromosome trisomy, meiotic nondisjunction
- (Q 921) Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
- (Q 922) Major partial trisomy
- (Q 923) Minor partial trisomy
- (Q 924) Duplications seen only at prometaphase
- (Q 925) Duplications with other complex rearrangements
- (Q 926) Extra marker chromosomes
- (Q 927) Triploidy and polyploidy
- (Q 928) Other specified trisomies and partial trisomies of autosomes
- (Q 929) Trisomy and partial trisomy of autosomes, unspecified

(Q93) Monosomies and deletions from the autosomes, not elsewhere classified
- (Q 930) Whole chromosome monosomy, meiotic nondisjunction
- (Q 931) Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
- (Q 932) Chromosome replaced with ring or dicentric
- (Q933) Deletion of short arm of chromosome 4
  - Wolff-Hirschorn syndrome
- (Q934) Deletion of short arm of chromosome 5
  - Cri-du-chat syndrome
- (Q935) Other deletions of part of a chromosome
  - Angelman syndrome
- (Q 936) Deletion seen only at prometaphase
- (Q 937) Deletions with other complex rearrangements
- (Q 938) Other deletions from the autosomes
- (Q 939) Deletion from autosomes, unspecified

(Q95) Balanced rearrangements and structural markers, not elsewhere classified
- Robertsonian and balanced reciprocal translocations and insertions
- (Q 950) Balanced translocation and insertion in normal individual
- (Q 951) Chromosome inversion in normal individual
- (Q 952) Balanced autosomal rearrangement in abnormal individual
- (Q 953) Balanced sex/autosomal rearrangement in abnormal individual
- (Q 954) Individuals with marker heterochromatin
- (Q 955) Individuals with autosomal fragile site
- (Q 958) Other balanced rearrangements and structural markers
- (Q 959) Balanced rearrangement and structural marker, unspecified

(Q96) Turner syndrome
- (Q 960) Karyotype 45,X
- (Q 961) Karyotype 46,X iso (Xq)
- (Q 962) Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
- (Q 963) Mosaicism, 45,X/46,XX or XY
- (Q 964) Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
- (Q 968) Other variants of Turner's syndrome
- (Q 969) Turner's syndrome, unspecified

(Q97) Other sex chromosome abnormalities, female phenotype, not elsewhere classified
- (Q 970) Karyotype 47,XXX
- (Q 971) Female with more than three X chromosomes
- (Q 972) Mosaicism, lines with various numbers of X chromosomes
- (Q 973) Female with 46,XY karyotype
- (Q 978) Other specified sex chromosome abnormalities, female phenotype
- (Q 979) Sex chromosome abnormality, female phenotype, unspecified

(Q98) Other sex chromosome abnormalities, male phenotype, not elsewhere classified
- (Q 980) Klinefelter's syndrome karyotype 47,XXY
- (Q 981) Klinefelter's syndrome, male with more than two X chromosomes
- (Q 982) Klinefelter's syndrome, male with 46,XX karyotype
- (Q 983) Other male with 46,XX karyotype
- (Q 984) Klinefelter's syndrome, unspecified
- (Q 985) Karyotype 47,XYY
- (Q 986) Male with structurally abnormal sex chromosome
- (Q 987) Male with sex chromosome mosaicism
- (Q 988) Other specified sex chromosome abnormalities, male phenotype
- (Q 989) Sex chromosome abnormality, male phenotype, unspecified

(Q99) Other chromosome abnormalities, not elsewhere classified
- (Q 990) Chimera 46,XX/46,XY
- (Q991) 46,XX true hermaphrodite
- (Q992) Fragile X chromosome
  - Fragile X syndrome
- (Q 998) Other specified chromosome abnormalities
- (Q 999) Chromosomal abnormality, unspecified

Wikia

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

Contents

Q00-Q89 - Congenital malformations and deformationsEdit

(Q00-Q07) nervous system Edit

(Q10-Q18) eye, ear, 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 alsoEdit

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