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
  • Q77.7

    Spondyloepiphyseal dysplasia

  • Q77.8

    Other osteochondrodysplasia with defects of growth of tubular bones and spine

  • Q77.9

    Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified

  • Q78.0

    Osteogenesis imperfecta

  • Q78.1

    Polyostotic fibrous dysplasia

  • Q78.2

    Osteopetrosis

  • Q78.3

    Progressive diaphyseal dysplasia

  • Q78.4

    Enchondromatosis

  • Q78.5

    Metaphyseal dysplasia

  • Q78.6

    Multiple congenital exostoses

  • Q78.8

    Other specified osteochondrodysplasias

  • Q78.9

    Osteochondrodysplasia, unspecified

  • Q79.0

    Congenital diaphragmatic hernia

  • Q79.1

    Other congenital malformations of diaphragm

  • Q79.2

    Exomphalos

  • Q79.3

    Gastroschisis

  • Q79.4

    Prune belly syndrome

  • Q79.51

    Congenital hernia of bladder

  • Q79.59

    Other congenital malformations of abdominal wall

  • Q79.60

    Ehlers-Danlos syndrome, unspecified

  • Q79.61

    Classical Ehlers-Danlos syndrome

  • Q79.62

    Hypermobile Ehlers-Danlos syndrome

  • Q79.63

    Vascular Ehlers-Danlos syndrome

  • Q79.69

    Other Ehlers-Danlos syndromes

  • Q79.8

    Other congenital malformations of musculoskeletal system

  • Q79.9

    Congenital malformation of musculoskeletal system, unspecified

  • Q80.0

    Ichthyosis vulgaris

  • Q80.1

    X-linked ichthyosis

  • Q80.2

    Lamellar ichthyosis

  • Q80.3

    Congenital bullous ichthyosiform erythroderma

  • Q80.4

    Harlequin fetus

  • Q80.8

    Other congenital ichthyosis

  • Q80.9

    Congenital ichthyosis, unspecified

  • Q81.0

    Epidermolysis bullosa simplex

  • Q81.1

    Epidermolysis bullosa letalis

  • Q81.2

    Epidermolysis bullosa dystrophica

  • Q81.8

    Other epidermolysis bullosa

  • Q81.9

    Epidermolysis bullosa, unspecified

  • Q82.0

    Hereditary lymphedema

  • Q82.1

    Xeroderma pigmentosum

  • Q82.2

    Congenital cutaneous mastocytosis

  • Q82.3

    Incontinentia pigmenti

  • Q82.4

    Ectodermal dysplasia (anhidrotic)

  • Q82.5

    Congenital non-neoplastic nevus

  • Q82.6

    Congenital sacral dimple

  • Q82.8

    Other specified congenital malformations of skin

  • Q82.9

    Congenital malformation of skin, unspecified

  • Q83.0

    Congenital absence of breast with absent nipple

  • Q83.1

    Accessory breast

  • Q83.2

    Absent nipple

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