Talk:International Classification of Diseases: Difference between revisions
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* Q81 Epidermolysis bullosa | * Q81 Epidermolysis bullosa | ||
** Q81.0 Epidermolysis bullosa simplex Excl.: Cockayne's syndrome (Q87.1) | ** Q81.0 Epidermolysis bullosa simplex Excl.: Cockayne's syndrome (Q87.1) | ||
** Q81.1 | ** Q81.1 Epidermolysis bullosa letalis Herlitz' syndrome | ||
Epidermolysis bullosa letalis | ** Q81.2 Epidermolysis bullosa dystrophica | ||
Herlitz' syndrome | ** Q81.8 Other epidermolysis bullosa | ||
** Q81.2 | ** Q81.9 Epidermolysis bullosa, unspecified | ||
Epidermolysis bullosa dystrophica | * 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) | ||
** Q81.8 | ** Q82.0 Hereditary lymphoedema | ||
Other epidermolysis bullosa | ** Q82.1 Xeroderma pigmentosum | ||
** Q81.9 | ** Q82.2 Mastocytosis Urticaria pigmentosa Excl.: malignant mastocytosis (C96.2) | ||
Epidermolysis bullosa, unspecified | ** Q82.3 Incontinentia pigmenti | ||
* Q82 Other congenital malformations of skin | ** Q82.4 Ectodermal dysplasia (anhidrotic) Excl.: Ellis-van Creveld syndrome (** Q77.6) | ||
Excl.: | ** Q82.5 Congenital non-neoplastic naevus Birthmark NOS | ||
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: | Naevus: | ||
flammeus | flammeus | ||
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spider (I78.1) | spider (I78.1) | ||
stellar (I78.1) | stellar (I78.1) | ||
** Q82.8 | ** Q82.8 Other specified congenital malformations of skin Abnormal palmar creases Accessory skin tags | ||
Other specified congenital malformations of skin | |||
Abnormal palmar creases | |||
Accessory skin tags | |||
Benign familial pemphigus [Hailey-Hailey] | Benign familial pemphigus [Hailey-Hailey] | ||
Cutis laxa (hyperelastica) | Cutis laxa (hyperelastica) | ||
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Ehlers-Danlos syndrome (** Q79.6) | Ehlers-Danlos syndrome (** Q79.6) | ||
** Q82.9 Congenital malformation of skin, unspecified | ** Q82.9 Congenital malformation of skin, unspecified | ||
* Q83 Congenital malformations of breast | * Q83 Congenital malformations of breast Excl.: absence of pectoral muscle (Q79.8) | ||
Excl.: | ** Q83.0 Congenital absence of breast with absent nipple | ||
absence of pectoral muscle ( | ** Q83.1 Accessory breast Supernumerary breast | ||
** Q83.0 | ** Q83.2 Absent nipple | ||
Congenital absence of breast with absent nipple | ** Q83.3 Accessory nipple Supernumerary nipple | ||
** Q83.1 | ** Q83.8 Other congenital malformations of breast Hypoplasia of breast | ||
Accessory breast | ** Q83.9 Congenital malformation of breast, unspecified | ||
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 Other congenital malformations of integument | ||
** Q84.0 | ** Q84.0 Congenital alopecia Congenital atrichosis | ||
Congenital alopecia | ** Q84.1 Congenital morphological disturbances of hair, not elsewhere classified Beaded hair, Monilethrix, Pili annulati Excl.: Menkes' kinky hair syndrome (E83.0) | ||
Congenital atrichosis | ** Q84.2 Other congenital malformations of hair Congenital: hypertrichosis, malformation of hair NOS, Persistent lanugo | ||
** Q84.1 | ** Q84.3 Anonychia Excl.: nail patella syndrome (Q87.2) | ||
Congenital morphological disturbances of hair, not elsewhere classified | ** Q84.4 Congenital leukonychia | ||
Beaded hair | * Q84.5 Enlarged and hypertrophic nails, Congenital onychauxis, Pachyonychia | ||
Monilethrix | ** Q84.6 Other congenital malformations of nails Congenital: club nail, koilonychia, malformation of nail NOS | ||
Pili annulati | ** Q84.8 Other specified congenital malformations of integument Aplasia cutis congenita | ||
Excl.: | ** Q84.9 Congenital malformation of integument, unspecified Congenital: anomaly NOS, deformity NOS, of integument NOS | ||
Menkes' kinky hair syndrome (E83.0) | * Q85 Phakomatoses, not elsewhere classified Excl.: ataxia telangiectasia [Louis-Bar] (G11.3) familial dysautonomia [Riley-Day] (G90.1) | ||
** Q84.2 | ** Q85.0 Neurofibromatosis (nonmalignant) Von Recklinghausen's disease | ||
Other congenital malformations of hair | ** Q85.1 Tuberous sclerosis Bourneville's disease Epiloia | ||
Congenital: | |||
hypertrichosis | |||
malformation of hair NOS | |||
Persistent lanugo | |||
** Q84.3 | |||
Anonychia | |||
Excl.: | |||
nail patella syndrome ( | |||
** Q84.4 | |||
Congenital leukonychia | |||
* Q84.5 Enlarged and hypertrophic nails | |||
Congenital onychauxis | |||
Pachyonychia | |||
** Q84.6 | |||
Other congenital malformations of nails | |||
Congenital: | |||
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 | ** Q85.8 | ||
Other phakomatoses, not elsewhere classified | Other phakomatoses, not elsewhere classified | ||
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Phakomatosis, unspecified | Phakomatosis, unspecified | ||
Hamartosis NOS | Hamartosis NOS | ||
* Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified | * 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.-) | ||
Excl.: | ** Q86.0 Fetal alcohol syndrome (dysmorphic) | ||
iodine-deficiency-related hypothyroidism (E00-E02) | ** Q86.1 Fetal hydantoin syndrome Meadow's syndrome | ||
nonteratogenic effects of substances transmitted via placenta or breast milk (P04.-) | ** Q86.2 Dysmorphism due to warfarin | ||
** Q86.0 | ** Q86.8 Other congenital malformation syndromes due to known exogenous causes | ||
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 Other specified congenital malformation syndromes affecting multiple systems | ||
** Q87.0 | ** Q87.0 Congenital malformation syndromes predominantly affecting facial appearance Acrocephalopolysyndactyly Acrocephalosyndactyly [Apert] | ||
Congenital malformation syndromes predominantly affecting facial appearance | |||
Acrocephalopolysyndactyly | |||
Acrocephalosyndactyly [Apert] | |||
Cryptophthalmos syndrome | Cryptophthalmos syndrome | ||
Cyclopia | Cyclopia | ||
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thrombocytopenia with absent radius [TAR] | thrombocytopenia with absent radius [TAR] | ||
VATER | VATER | ||
** Q87.3 | ** Q87.3 Congenital malformation syndromes involving early overgrowth | ||
Congenital malformation syndromes involving early overgrowth | |||
Syndrome: | Syndrome: | ||
Beckwith-Wiedemann | Beckwith-Wiedemann | ||
Sotos | Sotos | ||
Weaver | Weaver | ||
** Q87.4 | ** Q87.4 Marfan's syndrome | ||
Marfan's syndrome | ** Q87.5 Other congenital malformation syndromes with other skeletal changes | ||
** Q87.5 | ** Q87.8 Other specified congenital malformation syndromes, not elsewhere classified | ||
Other congenital malformation syndromes with other skeletal changes | |||
** Q87.8 | |||
Other specified congenital malformation syndromes, not elsewhere classified | |||
Syndrome: | Syndrome: | ||
Alport | Alport | ||
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thoracic | thoracic | ||
Excl.: | Excl.: | ||
dextrocardia NOS ( | dextrocardia NOS (Q24.0) | ||
laevocardia ( | laevocardia (Q24.1) | ||
** Q89.4 | ** Q89.4 Conjoined twins Craniopagus | ||
Conjoined twins | |||
Craniopagus | |||
Dicephaly | Dicephaly | ||
Double monster | Double monster | ||
Pygopagus | Pygopagus | ||
Thoracopagus | Thoracopagus | ||
** Q89.7 | ** Q89.7 Multiple congenital malformations, not elsewhere classified Monster NOS Multiple congenital: anomalies NOS deformities NOS Excl.: congenital malformation syndromes affecting multiple systems (Q87.-) | ||
Multiple congenital malformations, not elsewhere classified | ** Q89.8 Other specified congenital malformations | ||
Monster NOS | ** Q89.9 Congenital malformation, unspecified Congenital: anomaly NOS deformity NOS | ||
Multiple congenital: | |||
anomalies NOS | |||
deformities NOS | |||
Excl.: | |||
congenital malformation syndromes affecting multiple systems ( | |||
** Q89.8 | |||
Other specified congenital malformations | |||
** Q89.9 | |||
Congenital malformation, unspecified | |||
Congenital: | |||
anomaly NOS | |||
deformity NOS | |||
==Chromosomal abnormalities, not elsewhere classified (Q90-Q99)== | ==Chromosomal abnormalities, not elsewhere classified (Q90-Q99)== |
Revision as of 19:23, 10 July 2012
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