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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  • 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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