| Q90 |
Down syndrome [+]
| Code also |
associated physical condition(s), such as atrioventricular septal defect (Q21.2-)
|
| Use additional |
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
|
| Excludes 1: |
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
| Excludes 1: |
partial trisomy due to unbalanced translocation (Q92.5)
|
|
| Q92.5 |
Duplications with other complex rearrangements
Partial trisomy due to unbalanced translocations
| Code also |
any associated deletions due to unbalanced translocations, inversions and insertions (Q93.7)
|
|
| Q92.6 |
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
| Use additional |
code(s) to identify any associated conditions, such as: |
| Use additional |
autism spectrum disorder (F84.0) |
| Use additional |
degree of intellectual disabilities (F70-F79) |
| Use additional |
epilepsy and recurrent seizures (G40.-) |
| Use additional |
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
| Code also |
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 [+]
| Excludes 1: |
Noonan syndrome (Q87.19)
|
|
|
| Q96.0 |
Karyotype 45, X
|
| Q96.1 |
Karyotype 46, X iso (Xq)
Karyotype 46, isochromosome Xq
|
| Q96.2 |
Karyotype 46, X with abnormal sex chromosome, except iso (Xq)
Karyotype 46, X with abnormal sex chromosome, except isochromosome 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 1: |
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 syndrome karyotype 47, XXY
|
| Q98.1 |
Klinefelter syndrome, male with more than two X chromosomes
|
| 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
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
|
|