Chromosomal abnormalities, not elsewhere classified (Q90-Q99)

Q90Down syndrome
Code Also: associated physical condition(s), such as atrioventricular septal defect (Q21.2-)
Use Additional Code: code(s) to identify any associated degree of intellectual disabilities (F70-F79)

Q90.0Trisomy 21, nonmosaicism (meiotic nondisjunction)

Q90.1Trisomy 21, mosaicism (mitotic nondisjunction)

Q90.2Trisomy 21, translocation

Q90.9Down syndrome, unspecified
› Trisomy 21 NOS

Q91Trisomy 18 and Trisomy 13

Q91.0Trisomy 18, nonmosaicism (meiotic nondisjunction)

Q91.1Trisomy 18, mosaicism (mitotic nondisjunction)

Q91.2Trisomy 18, translocation

Q91.3Trisomy 18, unspecified

Q91.4Trisomy 13, nonmosaicism (meiotic nondisjunction)

Q91.5Trisomy 13, mosaicism (mitotic nondisjunction)

Q91.6Trisomy 13, translocation

Q91.7Trisomy 13, unspecified

Q92Other trisomies and partial trisomies of the autosomes, not elsewhere classified
Includes: unbalanced translocations and insertions
Excludes 1: trisomies of chromosomes 13, 18, 21 (Q90-Q91)

Q92.0Whole chromosome trisomy, nonmosaicism (meiotic nondisjunction)

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

Q92.2Partial trisomy
› Less than whole arm duplicated
› Whole arm or more duplicated
Excludes 1: partial trisomy due to unbalanced translocation (Q92.5)

Q92.5Duplications with other complex rearrangements
› Partial trisomy due to unbalanced translocations
Code Also: any associated deletions due to unbalanced translocations, inversions and insertions (Q93.7)

Q92.6Marker chromosomes
› Trisomies due to dicentrics
› Trisomies due to extra rings
› Trisomies due to isochromosomes
› Individual with marker heterochromatin

Q92.61Marker chromosomes in normal individual

Q92.62Marker chromosomes in abnormal individual

Q92.7Triploidy and polyploidy

Q92.8Other 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

Q92.9Trisomy and partial trisomy of autosomes, unspecified

Q93Monosomies and deletions from the autosomes, not elsewhere classified

Q93.0Whole chromosome monosomy, nonmosaicism (meiotic nondisjunction)

Q93.1Whole chromosome monosomy, mosaicism (mitotic nondisjunction)

Q93.2Chromosome replaced with ring, dicentric or isochromosome

Q93.3Deletion of short arm of chromosome 4
› Wolff-Hirschorn syndrome

Q93.4Deletion of short arm of chromosome 5
› Cri-du-chat syndrome

Q93.5Other deletions of part of a chromosome

Q93.51Angelman syndrome

Q93.52Phelan-McDermid syndrome
› 22q13.3 deletion syndrome
Use Additional Code: 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)

Q93.59Other deletions of part of a chromosome

Q93.7Deletions with other complex rearrangements
› Deletions due to unbalanced translocations, inversions and insertions
Code Also: any associated duplications due to unbalanced translocations, inversions and insertions (Q92.5)

Q93.8Other deletions from the autosomes

Q93.81Velo-cardio-facial syndrome
› Deletion 22q11.2

Q93.82Williams syndrome

Q93.88Other microdeletions
› Miller-Dieker syndrome
› Smith-Magenis syndrome

Q93.89Other deletions from the autosomes
› Deletions identified by fluorescence in situ hybridization (FISH)
› Deletions identified by in situ hybridization (ISH)
› Deletions seen only at prometaphase

Q93.9Deletion from autosomes, unspecified

Q95Balanced rearrangements and structural markers, not elsewhere classified
Includes: Robertsonian and balanced reciprocal translocations and insertions

Q95.0Balanced translocation and insertion in normal individual

Q95.1Chromosome inversion in normal individual

Q95.2Balanced autosomal rearrangement in abnormal individual

Q95.3Balanced sex/autosomal rearrangement in abnormal individual

Q95.5Individual with autosomal fragile site

Q95.8Other balanced rearrangements and structural markers

Q95.9Balanced rearrangement and structural marker, unspecified

Q96Turner's syndrome
Excludes 1: Noonan syndrome (Q87.19)

Q96.0Karyotype 45, X

Q96.1Karyotype 46, X iso (Xq)
› Karyotype 46, isochromosome Xq

Q96.2Karyotype 46, X with abnormal sex chromosome, except iso (Xq)
› Karyotype 46, X with abnormal sex chromosome, except isochromosome Xq

Q96.3Mosaicism, 45, X/46, XX or XY

Q96.4Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome

Q96.8Other variants of Turner's syndrome

Q96.9Turner's syndrome, unspecified

Q97Other sex chromosome abnormalities, female phenotype, not elsewhere classified
Excludes 1: Turner's syndrome (Q96.-)

Q97.0Karyotype 47, XXX

Q97.1Female with more than three X chromosomes

Q97.2Mosaicism, lines with various numbers of X chromosomes

Q97.3Female with 46, XY karyotype

Q97.8Other specified sex chromosome abnormalities, female phenotype

Q97.9Sex chromosome abnormality, female phenotype, unspecified

Q98Other sex chromosome abnormalities, male phenotype, not elsewhere classified

Q98.0Klinefelter syndrome karyotype 47, XXY

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

Q98.3Other male with 46, XX karyotype

Q98.4Klinefelter syndrome, unspecified

Q98.5Karyotype 47, XYY

Q98.6Male with structurally abnormal sex chromosome

Q98.7Male with sex chromosome mosaicism

Q98.8Other specified sex chromosome abnormalities, male phenotype

Q98.9Sex chromosome abnormality, male phenotype, unspecified

Q99Other chromosome abnormalities, not elsewhere classified

Q99.0Chimera 46, XX/46, XY
› Chimera 46, XX/46, XY true hermaphrodite

Q99.146, XX true hermaphrodite
› 46, XX with streak gonads
› 46, XY with streak gonads
› Pure gonadal dysgenesis

Q99.2Fragile X chromosome
› Fragile X syndrome

Q99.8Other specified chromosome abnormalities

Q99.9Chromosomal abnormality, unspecified