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Chromosomal abnormalities

CCSR category MAL009 · 77 ICD-10-CM codes

Code Families in This Category

  • Q93 Monosomies and deletions from the autosomes, not elsewhere classified · 15
  • Q99 Other chromosome abnormalities, not elsewhere classified · 11
  • Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified · 9
  • Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified · 9
  • Q91 Trisomy 18 and Trisomy 13 · 8
  • Q95 Balanced rearrangements and structural markers, not elsewhere classified · 7
  • Q96 Turner's syndrome · 7
  • Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified · 6
  • Q90 Down syndrome · 4
  • Q87 Other specified congenital malformation syndromes affecting multiple systems · 1

ICD-10-CM Codes in This Category (77)

  • Q87.86 — Kleefstra syndrome
  • Q90.0 — Trisomy 21, nonmosaicism (meiotic nondisjunction)
  • Q90.1 — Trisomy 21, mosaicism (mitotic nondisjunction)
  • Q90.2 — Trisomy 21, translocation
  • Q90.9 — Down syndrome, unspecified
  • 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
  • Q92.0 — Whole chromosome trisomy, nonmosaicism (meiotic nondisjunction)
  • Q92.1 — Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
  • Q92.2 — Partial trisomy
  • Q92.5 — Duplications with other complex rearrangements
  • 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
  • Q92.9 — Trisomy and partial trisomy of autosomes, unspecified
  • 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
  • Q93.4 — Deletion of short arm of chromosome 5
  • Q93.5 — Other deletions of part of a chromosome
  • Q93.51 — Angelman syndrome
  • Q93.52 — Phelan-McDermid syndrome
  • Q93.59 — Other deletions of part of a chromosome
  • Q93.7 — Deletions with other complex rearrangements
  • Q93.81 — Velo-cardio-facial syndrome
  • Q93.82 — Williams syndrome
  • Q93.88 — Other microdeletions
  • Q93.89 — Other deletions from the autosomes
  • Q93.9 — Deletion from autosomes, unspecified
  • 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
  • Q96.0 — 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's syndrome
  • Q96.9 — Turner's syndrome, unspecified
  • 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
  • Q98.0 — 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
  • Q99.0 — Chimera 46, XX/46, XY
  • Q99.1 — 46, XX true hermaphrodite
  • Q99.2 — Fragile X chromosome
  • Q99.8 — Other specified chromosome abnormalities
  • Q99.811 — Usher syndrome, type 1
  • Q99.812 — Usher syndrome, type 2
  • Q99.813 — Usher syndrome, type 3
  • Q99.818 — Other Usher syndrome
  • Q99.819 — Usher syndrome, unspecified
  • Q99.89 — Other specified chromosome abnormalities
  • Q99.9 — Chromosomal abnormality, unspecified

Clinical Classifications Software Refined (CCSR) for ICD-10-CM Diagnoses. Healthcare Cost and Utilization Project (HCUP), Agency for Healthcare Research and Quality, Rockville, MD. All data sources.