Chromosomal abnormalities, not elsewhere classified
88 codes in this section
Codes
Down syndrome
4 subcategoryies
Trisomy 21, nonmosaicism (meiotic nondisjunction)
Trisomy 21, mosaicism (mitotic nondisjunction)
Trisomy 21, translocation
Down syndrome, unspecified
Trisomy 18 and Trisomy 13
8 subcategoryies
Trisomy 18, nonmosaicism (meiotic nondisjunction)
Trisomy 18, mosaicism (mitotic nondisjunction)
Trisomy 18, translocation
Trisomy 18, unspecified
Trisomy 13, nonmosaicism (meiotic nondisjunction)
Trisomy 13, mosaicism (mitotic nondisjunction)
Trisomy 13, translocation
Trisomy 13, unspecified
Other trisomies and partial trisomies of the autosomes, not elsewhere classified
8 subcategoryies
Whole chromosome trisomy, nonmosaicism (meiotic nondisjunction)
Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
Partial trisomy
Duplications with other complex rearrangements
Marker chromosomes
2 subcategoryies
Marker chromosomes in normal individual
Marker chromosomes in abnormal individual
Triploidy and polyploidy
Other specified trisomies and partial trisomies of autosomes
Trisomy and partial trisomy of autosomes, unspecified
Monosomies and deletions from the autosomes, not elsewhere classified
9 subcategoryies
Whole chromosome monosomy, nonmosaicism (meiotic nondisjunction)
Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
Chromosome replaced with ring, dicentric or isochromosome
Deletion of short arm of chromosome 4
Deletion of short arm of chromosome 5
Other deletions of part of a chromosome
3 subcategoryies
Angelman syndrome
Phelan-McDermid syndrome
Other deletions of part of a chromosome
Deletions with other complex rearrangements
Other deletions from the autosomes
4 subcategoryies
Velo-cardio-facial syndrome
Williams syndrome
Other microdeletions
Other deletions from the autosomes
Deletion from autosomes, unspecified
Balanced rearrangements and structural markers, not elsewhere classified
7 subcategoryies
Balanced translocation and insertion in normal individual
Chromosome inversion in normal individual
Balanced autosomal rearrangement in abnormal individual
Balanced sex/autosomal rearrangement in abnormal individual
Individual with autosomal fragile site
Other balanced rearrangements and structural markers
Balanced rearrangement and structural marker, unspecified
Turner's syndrome
7 subcategoryies
Karyotype 45, X
Karyotype 46, X iso (Xq)
Karyotype 46, X with abnormal sex chromosome, except iso (Xq)
Mosaicism, 45, X/46, XX or XY
Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome
Other variants of Turner's syndrome
Turner's syndrome, unspecified
Other sex chromosome abnormalities, female phenotype, not elsewhere classified
6 subcategoryies
Karyotype 47, XXX
Female with more than three X chromosomes
Mosaicism, lines with various numbers of X chromosomes
Female with 46, XY karyotype
Other specified sex chromosome abnormalities, female phenotype
Sex chromosome abnormality, female phenotype, unspecified
Other sex chromosome abnormalities, male phenotype, not elsewhere classified
9 subcategoryies
Klinefelter syndrome karyotype 47, XXY
Klinefelter syndrome, male with more than two X chromosomes
Other male with 46, XX karyotype
Klinefelter syndrome, unspecified
Karyotype 47, XYY
Male with structurally abnormal sex chromosome
Male with sex chromosome mosaicism
Other specified sex chromosome abnormalities, male phenotype
Sex chromosome abnormality, male phenotype, unspecified
Other chromosome abnormalities, not elsewhere classified
5 subcategoryies
Chimera 46, XX/46, XY
46, XX true hermaphrodite
Fragile X chromosome
Other specified chromosome abnormalities
2 subcategoryies
Usher syndrome
5 subcategoryies
Usher syndrome, type 1
Usher syndrome, type 2
Usher syndrome, type 3
Other Usher syndrome
Usher syndrome, unspecified
Other specified chromosome abnormalities
Chromosomal abnormality, unspecified
