All ICD10 Codes
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)
All CodesBillable Only
Internal Codes
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  • 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

  • Q99.811—

    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

  • QA0.0101—

    SCN2A-related neurodevelopmental disorder

  • QA0.0102—

    CACNA1A-related neurodevelopmental disorder

  • QA0.0109—

    Neurodevelopmental disorder related to pathogenic variant in other ion channel gene

  • QA0.011—

    Neurodevelopmental disorders, related to pathogenic variants in glutamate receptor genes

  • QA0.012—

    Neurodevelopmental disorders, related to pathogenic variants in other receptor genes

  • QA0.0131—

    SLC6A1-related disorder

  • QA0.0139—

    Neurodevelopmental disorder, related to pathogenic variant in other transporter or solute carrier gene

  • QA0.0141—

    Syntaxin-binding protein 1-related disorder

  • QA0.0142—

    DLG4-related synaptopathy

  • QA0.0149—

    Neurodevelopmental disorder, related to pathogenic variant in other synapse related gene

  • QA0.0151—

    FOXG1 syndrome

  • QA0.0159—

    Neurodevelopmental disorder, related to other genes associated with transcription and gene expression

  • QA0.8—

    Other neurodevelopmental disorders related to pathogenic variants in other specific genes

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