Chapter XVII
Congenital malformations, deformations and chromosomal abnormalities
(Q00-Q99)

Q90 Down syndrome

Q90.0 Trisomy 21, meiotic nondisjunction

Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)

Q90.2 Trisomy 21, translocation

Q90.9 Down syndrome, unspecified

Q91 Edwards syndrome and Patau 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 syndrome, unspecified

Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified

Q92.0 Whole chromosome trisomy, meiotic nondisjunction

Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)

Q92.2 Major partial trisomy

Q92.3 Minor partial trisomy

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

Q93.4 Deletion of short arm of chromosome 5

Q93.5 Other deletions of part of a chromosome

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

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 syndrome

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 syndrome

Q96.9 Turner syndrome, unspecified

Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified

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 syndrome karyotype 47,XXY

Q98.1 Klinefelter syndrome, male with more than two X chromosomes

Q98.2 Klinefelter syndrome, male with 46,XX karyotype

Q98.3 Other male with 46,XX karyotype

Q98.4 Klinefelter 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

Q99.1 46,XX true hermaphrodite

Q99.2 Fragile X chromosome

Q99.8 Other specified chromosome abnormalities

Q99.9 Chromosomal abnormality, unspecified