Talk:International Classification of Diseases: Difference between revisions

From Embryology
Line 88: Line 88:
* 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
Line 138: Line 116:
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)
Line 150: Line 125:
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 (** Q79.8)
** 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 (** Q87.2)
** Q84.4
Congenital leukonychia
* Q84.5 Enlarged and hypertrophic nails
Congenital onychauxis
Pachyonychia
** Q84.6
Other congenital malformations of nails
Congenital:
clubnail
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
Line 231: Line 156:
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
Line 282: Line 196:
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
Line 325: Line 235:
thoracic
thoracic
Excl.:
Excl.:
dextrocardia NOS (** Q24.0)
dextrocardia NOS (Q24.0)
laevocardia (** Q24.1)
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 (** Q87.-)
** 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