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
  • Q87.410

    Marfan syndrome with aortic dilation

  • Q87.418

    Marfan syndrome with other cardiovascular manifestations

  • Q87.42

    Marfan syndrome with ocular manifestations

  • Q87.43

    Marfan syndrome with skeletal manifestation

  • Q87.5

    Other congenital malformation syndromes with other skeletal changes

  • Q87.8

    Other specified congenital malformation syndromes, not elsewhere classified

  • Q87.81

    Alport syndrome

  • Q87.82

    Arterial tortuosity syndrome

  • Q87.83

    Bardet-Biedl syndrome

  • Q87.84

    Laurence-Moon syndrome

  • Q87.85

    MED13L syndrome

  • Q87.86

    Kleefstra syndrome

  • Q87.87

    Hao-Fountain Syndrome

  • Q87.88

    CTNNB1 syndrome

  • Q87.89

    Other specified congenital malformation syndromes, not elsewhere classified

  • Q89

    Other congenital malformations, not elsewhere classified

  • Q89.0

    Congenital absence and malformations of spleen

  • Q89.01

    Asplenia (congenital)

  • Q89.09

    Congenital malformations of spleen

  • Q89.1

    Congenital malformations of adrenal gland

  • Q89.2

    Congenital malformations of other endocrine glands

  • Q89.3

    Situs inversus

  • Q89.4

    Conjoined twins

  • Q89.7

    Multiple congenital malformations, not elsewhere classified

  • Q89.8

    Other specified congenital malformations

  • Q89.81

    Kabuki syndrome

  • Q89.89

    Other specified congenital malformations

  • Q89.9

    Congenital malformation, unspecified

  • Q90

    Down 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

    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

  • 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

  • Q92.6

    Marker chromosomes

  • Q92.61

    Marker chromosomes in normal individual

  • Q92.62

    Marker chromosomes in abnormal individual

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