Talk:International Classification of Diseases

Congenital malformations of the nervous system (Q00-Q07)

• Q00 Anencephaly and similar malformations
  • Q00.0 Anencephaly, Acephaly, Acrania, Amyelencephaly, Hemianencephaly, Hemicephaly
  • Q00.1 Craniorachischisis
  • Q00.2 Iniencephaly
• Q01 Encephalocele Incl.: encephalomyelocele, hydroencephalocele, hydromeningocele, cranial meningocele, cerebral meningoencephalocele Excl.: Meckel-Gruber syndrome (Q61.9)
  • Q01.0 Frontal encephalocele
  • Q01.1 Nasofrontal encephalocele
  • Q01.2 Occipital encephalocele
  • Q01.8 Encephalocele of other sites
  • Q01.9 Encephalocele, unspecified
• Q02 Microcephaly Incl.: Hydromicrocephaly Micrencephalon Excl.: Meckel-Gruber syndrome (Q61.9)
• Q03 Congenital hydrocephalus Incl.: hydrocephalus in newborn Excl.: Arnold-Chiari syndrome (Q07.0) hydrocephalus: acquired (G91.-) due to congenital toxoplasmosis (P37.1) with spina bifida (Q05.0-Q05.4)
  • Q03.0 Malformations of aqueduct of Sylvius Aqueduct of Sylvius: anomaly obstruction, congenital stenosis
  • 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 Excl.: cyclopia (Q87.0) macrocephaly (Q75.3)
  • Q04.0 Congenital malformations of corpus callosum, Agenesis of corpus callosum
  • Q04.1 Arhinencephaly
  • Q04.2 Holoprosencephaly
  • Q04.3 Other reduction deformities of brain, Absence, Agenesis, Aplasia, Hypoplasia of part of brain, Agyria, Hydranencephaly, Lissencephaly, Microgyria, Pachygyria Excl.: congenital malformations of corpus callosum (Q04.0)
  • Q04.4 Septo-optic dysplasia
  • Q04.5 Megalencephaly
  • Q04.6 Congenital cerebral cysts, Porencephaly, Schizencephaly, Excl.: acquired porencephalic cyst (G93.0)
  • Q04.8 Other specified congenital malformations of brain, Macrogyria
  • Q04.9 Congenital malformation of brain, unspecified Congenital: anomaly, deformity, disease or lesion, multiple anomalies NOS of brain
• Q05 Spina bifida Incl.: hydromeningocele (spinal), meningocele (spinal), meningomyelocele, myelocele, myelomeningocele, rachischisis, spina bifida (aperta)(cystica), syringomyelocele Excl.: Arnold-Chiari syndrome (Q07.0), spina bifida occulta (Q76.0)
  • Q05.0 Cervical spina bifida with hydrocephalus
  • Q05.1 Thoracic spina bifida with hydrocephalus Spina bifida: dorsal thoracolumbar with hydrocephalus
  • Q05.2 Lumbar spina bifida with hydrocephalus, Lumbosacral spina bifida with hydrocephalus
  • Q05.3 Sacral spina bifida with hydrocephalus
  • Q05.4 Unspecified spina bifida with hydrocephalus
  • Q05.5 Cervical spina bifida without hydrocephalus
  • Q05.6 Thoracic spina bifida without hydrocephalus Spina bifida: dorsal NOS, thoracolumbar NOS
  • Q05.7 Lumbar spina bifida without hydrocephalus, Lumbosacral spina bifida NOS
  • Q05.8 Sacral spina bifida without hydrocephalus
  • Q05.9 Spina bifida, unspecified
• Q06 Other congenital malformations of spinal cord
  • Q06.0 Amyelia
  • Q06.1 Hypoplasia and dysplasia of spinal cord, Atelomyelia, Myelatelia, Myelodysplasia of spinal cord
  • Q06.2 Diastematomyelia
  • Q06.3 Other congenital cauda equina malformations
  • Q06.4 Hydromyelia Hydrorachis
  • Q06.8 Other specified congenital malformations of spinal cord
  • Q06.9 Congenital malformation of spinal cord, unspecified Congenital: anomaly, deformity, disease or lesion, NOS of spinal cord or meninges
• Q07 Other congenital malformations of nervous system Excl.: familial dysautonomia [Riley-Day] (G90.1), neurofibromatosis (nonmalignant) (Q85.0)
  • Q07.0 Arnold-Chiari syndrome
  • Q07.8 Other specified congenital malformations of nervous system Agenesis of nerve, Displacement of brachial plexus, Jaw-winking syndrome, Marcus Gunn's syndrome
  • Q07.9 Congenital malformation of nervous system, unspecified Congenital: anomaly, deformity, disease or lesion, NOS of nervous system

Congenital malformations of the urinary system (Q60-Q64)

• Q60 Renal agenesis and other reduction defects of kidney Incl.: atrophy of kidney: congenital infantile congenital absence of kidney
  • Q60.0 Renal agenesis, unilateral
  • Q60.1 Renal agenesis, bilateral
  • Q60.2 Renal agenesis, unspecified
  • Q60.3 Renal hypoplasia, unilateral
  • Q60.4 Renal hypoplasia, bilateral
  • Q60.5 Renal hypoplasia, unspecified
  • Q60.6 Potter's syndrome
• Q61 Cystic kidney disease Excl.: acquired cyst of kidney (N28.1) Potter's syndrome (Q60.6)
  • Q61.0 Congenital single renal cyst Cyst of kidney (congenital)(single)
  • Q61.1 Polycystic kidney, autosomal recessive Polycystic kidney, infantile type
  • Q61.2 Polycystic kidney, autosomal dominant Polycystic kidney, adult type
  • Q61.3 Polycystic kidney, unspecified
  • Q61.4 Renal dysplasia Multicystic: dyplastic kidney kidney (developmental) kidney disease Renal dysplasia Excl.:polycystic kidney disease (Q61.1-Q61.3)
  • Q61.5 Medullary cystic kidney Sponge kidney NOS
  • Q61.8 Other cystic kidney diseases Fibrocystic: kidney Renal degeneration or disease
  • Q61.9 Cystic kidney disease, unspecified Meckel-Gruber syndrome
• Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
  • Q62.0 Congenital hydronephrosis
  • Q62.1 Atresia and stenosis of ureter Congenital occlusion of: ureter ureteropelvic junction ureterovesical orifice Impervious ureter
  • Q62.2 Congenital megaloureter Congenital dilatation of ureter
  • Q62.3 Other obstructive defects of renal pelvis and ureter Congenital ureterocele
  • Q62.4 Agenesis of ureter Absent ureter
  • Q62.5 Duplication of ureter Accessory Double ureter
  • Q62.6 Malposition of ureter Deviation, Displacement, Ectopic Implantation, anomalous (of) ureter or ureteric orifice
  • Q62.7 Congenital vesico-uretero-renal reflux
  • Q62.8 Other congenital malformations of ureter Anomaly of ureter NOS
• Q63 Other congenital malformations of kidney Excl.: congenital nephrotic syndrome (N04.-)
  • Q63.0 Accessory kidney
  • Q63.1 Lobulated, fused and horseshoe kidney
  • Q63.2 Ectopic kidney Congenital displaced kidney Malrotation of kidney
  • Q63.3 Hyperplastic and giant kidney
  • Q63.8 Other specified congenital malformations of kidney Congenital renal calculi
  • Q63.9 Congenital malformation of kidney, unspecified
• Q64 Other congenital malformations of urinary system
  • Q64.0 Epispadias Excl.: hypospadias (Q54.-)
  • Q64.1 Exstrophy of urinary bladder

Ectopia vesicae Extroversion of bladder

• • Q64.2 Congenital posterior urethral valves
  • Q64.3 Other atresia and stenosis of urethra and bladder neck

Congenital: bladder neck obstruction stricture of: urethra urinary meatus vesicourethral orifice Impervious urethra

• • Q64.4 Malformation of urachus

Cyst of urachus Patent urachus Prolapse of urachus

• • Q64.5 Congenital absence of bladder and urethra
  • Q64.6 Congenital diverticulum of bladder
  • Q64.7 Other congenital malformations of bladder and urethra

Accessory: bladder urethra Congenital: hernia of bladder malformation of bladder or urethra NOS prolapse of: bladder (mucosa) urethra urinary meatus urethrorectal fistula Double: urethra urinary meatus

• • Q64.8 Other specified congenital malformations of urinary system
  • Q64.9 Congenital malformation of urinary system, unspecified

Congenital: anomaly deformity NOS of urinary system

Other congenital malformations (Q80-Q89)

• Q80 Congenital ichthyosis Excl.: Refsum's disease (G60.1)
  • Q80.0 Ichthyosis vulgaris
  • Q80.1 X-linked ichthyosis
  • Q80.2 Lamellar ichthyosis Collodion baby
  • 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 Excl.: Cockayne's syndrome (Q87.1)
  • Q81.1 Epidermolysis bullosa letalis Herlitz' syndrome
  • Q81.2 Epidermolysis bullosa dystrophica
  • Q81.8 Other epidermolysis bullosa
  • Q81.9 Epidermolysis bullosa, unspecified
• Q82 Other congenital malformations of skin Excl.: acrodermatitis enteropathica (E83.2) congenital erythropoietic porphyria (E80.0) pilonidal cyst or sinus (L05.-) Sturge-Weber(-Dimitri) syndrome (** Q85.8)
  • Q82.0 Hereditary lymphoedema
  • Q82.1 Xeroderma pigmentosum
  • Q82.2 Mastocytosis Urticaria pigmentosa Excl.: malignant mastocytosis (C96.2)
  • Q82.3 Incontinentia pigmenti
  • Q82.4 Ectodermal dysplasia (anhidrotic) Excl.: Ellis-van Creveld syndrome (** Q77.6)
  • Q82.5 Congenital non-neoplastic naevus Birthmark NOS

Naevus: flammeus portwine sanguineous strawberry vascular NOS verrucous Excl.: café au lait spots (L81.3) lentigo (L81.4) naevus: NOS (D22.-) araneus (I78.1) melanocytic (D22.-) pigmented (D22.-) spider (I78.1) stellar (I78.1)

• • Q82.8 Other specified congenital malformations of skin Abnormal palmar creases Accessory skin tags

Benign familial pemphigus [Hailey-Hailey] Cutis laxa (hyperelastica) Dermatoglyphic anomalies Inherited keratosis palmaris et plantaris Keratosis follicularis [Darier-White] Excl.: Ehlers-Danlos syndrome (** Q79.6)

• • Q82.9 Congenital malformation of skin, unspecified
• Q83 Congenital malformations of breast Excl.: absence of pectoral muscle (Q79.8)
  • Q83.0 Congenital absence of breast with absent nipple
  • Q83.1 Accessory breast Supernumerary 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 Congenital atrichosis
  • Q84.1 Congenital morphological disturbances of hair, not elsewhere classified Beaded hair, Monilethrix, Pili annulati Excl.: Menkes' kinky hair syndrome (E83.0)
  • Q84.2 Other congenital malformations of hair Congenital: hypertrichosis, malformation of hair NOS, Persistent lanugo
  • Q84.3 Anonychia Excl.: nail patella syndrome (Q87.2)
  • Q84.4 Congenital leukonychia
• Q84.5 Enlarged and hypertrophic nails, Congenital onychauxis, Pachyonychia
  • Q84.6 Other congenital malformations of nails Congenital: club nail, koilonychia, malformation of nail NOS
  • Q84.8 Other specified congenital malformations of integument Aplasia cutis congenita
  • Q84.9 Congenital malformation of integument, unspecified Congenital: anomaly NOS, deformity NOS, of integument NOS
• Q85 Phakomatoses, not elsewhere classified Excl.: ataxia telangiectasia [Louis-Bar] (G11.3) familial dysautonomia [Riley-Day] (G90.1)
  • Q85.0 Neurofibromatosis (nonmalignant) Von Recklinghausen's disease
  • Q85.1 Tuberous sclerosis Bourneville's disease Epiloia
  • Q85.8

Other phakomatoses, not elsewhere classified Syndrome: Peutz-Jeghers Sturge-Weber(-Dimitri) von Hippel-Lindau Excl.: Meckel-Gruber syndrome (** Q61.9)

• • Q85.9

Phakomatosis, unspecified Hamartosis NOS

• Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified Excl.: iodine-deficiency-related hypothyroidism (E00-E02) nonteratogenic effects of substances transmitted via placenta or breast milk (P04.-)
  • Q86.0 Fetal alcohol syndrome (dysmorphic)
  • Q86.1 Fetal hydantoin syndrome Meadow's syndrome
  • Q86.2 Dysmorphism due to warfarin
  • Q86.8 Other congenital malformation syndromes due to known exogenous causes
• Q87 Other specified congenital malformation syndromes affecting multiple systems
  • Q87.0 Congenital malformation syndromes predominantly affecting facial appearance Acrocephalopolysyndactyly Acrocephalosyndactyly [Apert]

Cryptophthalmos syndrome Cyclopia Syndrome: Goldenhar Moebius oro-facial-digital Robin Whistling face

• • Q87.1

Congenital malformation syndromes predominantly associated with short stature Syndrome: Aarskog Cockayne De Lange Dubowitz Noonan Prader-Willi Robinow-Silverman-Smith Russell-Silver Seckel Smith-Lemli-Opitz Excl.: Ellis-van Creveld syndrome (** Q77.6)

• • Q87.2

Congenital malformation syndromes predominantly involving limbs Syndrome: Holt-Oram Klippel-Trénaunay-Weber nail patella Rubinstein-Taybi sirenomelia thrombocytopenia with absent radius [TAR] VATER

• • Q87.3 Congenital malformation syndromes involving early overgrowth

Syndrome: Beckwith-Wiedemann Sotos Weaver

• • 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

Syndrome: Alport Laurence-Moon(-Bardet)-Biedl Zellweger

• Q89 Other congenital malformations, not elsewhere classified
  • Q89.0

Congenital malformations of spleen Asplenia (congenital) Congenital splenomegaly Excl.: isomerism of atrial appendages (with asplenia or polysplenia) (** Q20.6)

• • Q89.1

Congenital malformations of adrenal gland Excl.: congenital adrenal hyperplasia (E25.0)

• • Q89.2

Congenital malformations of other endocrine glands Congenital malformation of parathyroid or thyroid gland Persistent thyroglossal duct Thyroglossal cyst

• • Q89.3

Situs inversus Dextrocardia with situs inversus Mirror-image atrial arrangement with situs inversus Situs inversus or transversus: abdominalis thoracis Transposition of viscera: abdominal thoracic Excl.: dextrocardia NOS (Q24.0) laevocardia (Q24.1)

• • Q89.4 Conjoined twins Craniopagus

Dicephaly Double monster Pygopagus Thoracopagus

• • Q89.7 Multiple congenital malformations, not elsewhere classified Monster NOS Multiple congenital: anomalies NOS deformities NOS Excl.: congenital malformation syndromes affecting multiple systems (Q87.-)
  • Q89.8 Other specified congenital malformations
  • Q89.9 Congenital malformation, unspecified Congenital: anomaly NOS deformity NOS

Chromosomal abnormalities, not elsewhere classified (Q90-Q99)

• 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 Trisomy 21 NOS
• Q91 Edwards' syndrome and Patau's syndrome
  • 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 Incl.: unbalanced translocations and insertions Excl.: trisomies of chromosomes 13, 18, 21 (Q90-Q91)
  • Q92.0 Whole chromosome trisomy, meiotic nondisjunction
  • Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
  • Q92.2 Major partial trisomy Whole arm or more duplicated.
  • Q92.3 Minor partial trisomy Less than whole arm duplicated.
  • 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 Deletions 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 Incl.: 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's syndrome Excl.: Noonan's syndrome (Q87.1)
  • 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 Excl.: Turner's syndrome (Q96.-)
  • 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 Chimera 46,XX/46,XY true hermaphrodite
  • Q99.1 46,XX true hermaphrodite 46,XX with streak gonads 46,XY with streak gonads Pure gonadal dysgenesis
  • Q99.2 Fragile X chromosome Fragile X syndrome
  • Q99.8 Other specified chromosome abnormalities
  • Q99.9 Chromosomal abnormality, unspecified