Chapter 17

Q00–Q99: Congenital Malformations, Deformations and Chromosomal Abnormalities

Congenital Malformations, Deformations and Chromosomal Abnormalities diagnostic classification updated for 2026.

Chapter Instructions

Excludes2(Not included here. Code separately if applicable.)
  • inborn errors of metabolism (E70-E88)
Internal Codes
  • 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

    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

  • 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

  • Q93.8

    Other deletions from the autosomes

  • 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

    Balanced rearrangements and structural markers, not elsewhere classified

  • 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

  • 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

    Other sex chromosome abnormalities, female phenotype, not elsewhere classified

  • 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

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