ICD-10-CM Book 2024 Edition

Chapters  /  Chapter 17  /  Q90-Q99

Chromosomal abnormalities, not elsewhere classified (Q90-Q99)

Excludes2: mitochondrial metabolic disorders (E88.4-)
Q90 Down syndrome
CodeAlso associated physical condition(s), such as atrioventricular septal defect (Q21.2-)
UseAdditionalCode code(s) to identify any associated degree of intellectual disabilities (F70-F79)
Q90.0 Trisomy 21, nonmosaicism (meiotic nondisjunction)
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
Q90.2 Trisomy 21, translocation
Q90.9 Down syndrome, unspecified
Trisomy 21 NOS
Q91 Trisomy 18 and Trisomy 13
Q91.0 Trisomy 18, nonmosaicism (meiotic nondisjunction)
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
Q91.2 Trisomy 18, translocation
Q91.3 Trisomy 18, unspecified
Q91.4 Trisomy 13, nonmosaicism (meiotic nondisjunction)
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
Q91.6 Trisomy 13, translocation
Q91.7 Trisomy 13, unspecified
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
Includes unbalanced translocations and insertions
Excludes1 trisomies of chromosomes 13, 18, 21 (Q90-Q91)
Q92.0 Whole chromosome trisomy, nonmosaicism (meiotic nondisjunction)
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
Q92.2 Partial trisomy
Less than whole arm duplicated
Whole arm or more duplicated
Excludes1 partial trisomy due to unbalanced translocation (Q92.5)
Q92.5 Duplications with other complex rearrangements
Partial trisomy due to unbalanced translocations
CodeAlso any associated deletions due to unbalanced translocations, inversions and insertions (Q93.7)
Q92.6 Marker chromosomes
Trisomies due to dicentrics
Trisomies due to extra rings
Trisomies due to isochromosomes
Individual with marker heterochromatin
Q92.61 Marker chromosomes in normal individual
Q92.62 Marker chromosomes in abnormal individual
Q92.7 Triploidy and polyploidy
Q92.8 Other specified trisomies and partial trisomies of autosomes
Duplications identified by fluorescence in situ hybridization (FISH)
Duplications identified by in situ hybridization (ISH)
Duplications seen only at prometaphase
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
Q93.0 Whole chromosome monosomy, nonmosaicism (meiotic nondisjunction)
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
Q93.2 Chromosome replaced with ring, dicentric or isochromosome
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
Q93.51 Angelman syndrome
Q93.52 Phelan-McDermid syndrome
22q13.3 deletion syndrome
UseAdditionalCode code(s) to identify any associated conditions, such as:
autism spectrum disorder (F84.0)
degree of intellectual disabilities (F70-F79)
epilepsy and recurrent seizures (G40.-)
lymphedema (I89.0)
Q93.59 Other deletions of part of a chromosome
Q93.7 Deletions with other complex rearrangements
Deletions due to unbalanced translocations, inversions and insertions
CodeAlso any associated duplications due to unbalanced translocations, inversions and insertions (Q92.5)
Q93.8 Other deletions from the autosomes
Q93.81 Velo-cardio-facial syndrome
Deletion 22q11.2
Q93.82 Williams syndrome
Q93.88 Other microdeletions
Miller-Dieker syndrome
Smith-Magenis syndrome
Q93.89 Other deletions from the autosomes
Deletions identified by fluorescence in situ hybridization (FISH)
Deletions identified by in situ hybridization (ISH)
Deletions seen only at prometaphase
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
Q95.5 Individual with autosomal fragile site
Q95.8 Other balanced rearrangements and structural markers
Q95.9 Balanced rearrangement and structural marker, unspecified
Q96 Turner's syndrome
Excludes1 Noonan syndrome (Q87.19)
Q96.0 Karyotype 45, X
sex Female
Q96.1 Karyotype 46, X iso (Xq)
Karyotype 46, isochromosome Xq
sex Female
Q96.2 Karyotype 46, X with abnormal sex chromosome, except iso (Xq)
Karyotype 46, X with abnormal sex chromosome, except isochromosome Xq
sex Female
Q96.3 Mosaicism, 45, X/46, XX or XY
sex Female
Q96.4 Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome
sex Female
Q96.8 Other variants of Turner's syndrome
sex Female
Q96.9 Turner's syndrome, unspecified
sex Female
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
Excludes1 Turner's syndrome (Q96.-)
Q97.0 Karyotype 47, XXX
sex Female
Q97.1 Female with more than three X chromosomes
sex Female
Q97.2 Mosaicism, lines with various numbers of X chromosomes
sex Female
Q97.3 Female with 46, XY karyotype
sex Female
Q97.8 Other specified sex chromosome abnormalities, female phenotype
sex Female
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
sex Female
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
Q98.0 Klinefelter syndrome karyotype 47, XXY
sex Male
Q98.1 Klinefelter syndrome, male with more than two X chromosomes
sex Male
Q98.3 Other male with 46, XX karyotype
sex Male
Q98.4 Klinefelter syndrome, unspecified
sex Male
Q98.5 Karyotype 47, XYY
Q98.6 Male with structurally abnormal sex chromosome
sex Male
Q98.7 Male with sex chromosome mosaicism
sex Male
Q98.8 Other specified sex chromosome abnormalities, male phenotype
sex Male
Q98.9 Sex chromosome abnormality, male phenotype, unspecified
sex Male
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