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
  • Q89.2|

    Congenital malformations of other endocrine glands

  • Q89.3|

    Situs inversus

  • Q89.4|

    Conjoined twins

  • Q89.7|

    Multiple congenital malformations, not elsewhere classified

  • Q89.81|

    Kabuki syndrome

  • Q89.89|

    Other specified congenital malformations

  • Q89.9|

    Congenital malformation, unspecified

  • 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

  • Q93.51|

    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

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