Chapter XVII

Congenital malformations, deformations and chromosomal abnormalities

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
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
Includes: unbalanced translocations and insertions
Excludes: 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
Includes: 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
Excludes: 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
Excludes: 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