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
  • Q83.3

    Accessory nipple

  • Q83.8

    Other congenital malformations of breast

  • Q83.9

    Congenital malformation of breast, unspecified

  • Q84.0

    Congenital alopecia

  • Q84.1

    Congenital morphological disturbances of hair, not elsewhere classified

  • Q84.2

    Other congenital malformations of hair

  • Q84.3

    Anonychia

  • Q84.4

    Congenital leukonychia

  • Q84.5

    Enlarged and hypertrophic nails

  • Q84.6

    Other congenital malformations of nails

  • Q84.8

    Other specified congenital malformations of integument

  • Q84.9

    Congenital malformation of integument, unspecified

  • Q85.00

    Neurofibromatosis, unspecified

  • Q85.01

    Neurofibromatosis, type 1

  • Q85.02

    Neurofibromatosis, type 2

  • Q85.03

    Schwannomatosis

  • Q85.09

    Other neurofibromatosis

  • Q85.1

    Tuberous sclerosis

  • Q85.81

    PTEN hamartoma tumor syndrome

  • Q85.82

    Other Cowden syndrome

  • Q85.83

    Von Hippel-Lindau syndrome

  • Q85.89

    Other phakomatoses, not elsewhere classified

  • Q85.9

    Phakomatosis, unspecified

  • Q86.0

    Fetal alcohol syndrome (dysmorphic)

  • Q86.1

    Fetal hydantoin syndrome

  • Q86.2

    Dysmorphism due to warfarin

  • Q86.8

    Other congenital malformation syndromes due to known exogenous causes

  • Q87.0

    Congenital malformation syndromes predominantly affecting facial appearance

  • Q87.11

    Prader-Willi syndrome

  • Q87.19

    Other congenital malformation syndromes predominantly associated with short stature

  • Q87.2

    Congenital malformation syndromes predominantly involving limbs

  • Q87.3

    Congenital malformation syndromes involving early overgrowth

  • Q87.40

    Marfan syndrome, unspecified

  • 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

  • Q87.81

    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

  • Q89.01

    Asplenia (congenital)

  • Q89.09

    Congenital malformations of spleen

  • Q89.1

    Congenital malformations of adrenal gland

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