Chapter XVII
Congenital malformations, deformations and chromosomal abnormalities
(Q00-Q99)

Rules Conventions GCS Guidance

Other congenital malformations
(Q80-Q89)

Q80 Congenital ichthyosis

Excl.:
Refsum disease ( G60.1)
Q80.0 Ichthyosis vulgaris
Q80.1 X-linked ichthyosis
Q80.2 Lamellar ichthyosis
Incl.:
Collodion baby
Q80.3 Congenital bullous ichthyosiform erythroderma
Q80.4 Harlequin fetus
Q80.8 Other congenital ichthyosis
Q80.9 Congenital ichthyosis, unspecified

Q81 Epidermolysis bullosa

Q81.0 Epidermolysis bullosa simplex
Excl.:
Cockayne syndrome ( Q87.1)
Q81.1 Epidermolysis bullosa letalis
Incl.:
Herlitz syndrome
Q81.2 Epidermolysis bullosa dystrophica
Q81.8 Other epidermolysis bullosa
Q81.9 Epidermolysis bullosa, unspecified

Q82 Other congenital malformations of skin

Excl.:
acrodermatitis enteropathica ( E83.2)
congenital erythropoietic porphyria ( E80.0)
pilonidal cyst or sinus ( L05.-)
Sturge-Weber(-Dimitri) syndrome ( Q85.8)
Q82.0 Hereditary lymphoedema
Q82.1 Xeroderma pigmentosum
Q82.2 Mastocytosis
Incl.:
Urticaria pigmentosa
Excl.:
malignant mastocytosis ( C96.2)
Q82.3 Incontinentia pigmenti
Q82.4 Ectodermal dysplasia (anhidrotic)
Excl.:
Ellis-van Creveld syndrome ( Q77.6)
Q82.5 Congenital non-neoplastic naevus
Incl.:
Birthmark NOS
Naevus:
  • flammeus
  • portwine
  • sanguineous
  • strawberry
  • vascular NOS
  • verrucous
Excl.:
café au lait spots ( L81.3)
lentigo ( L81.4)
naevus:
Q82.8 Other specified congenital malformations of skin
Incl.:
Abnormal palmar creases
Accessory skin tags
Benign familial pemphigus [Hailey-Hailey]
Cutis laxa (hyperelastica)
Dermatoglyphic anomalies
Inherited keratosis palmaris et plantaris
Keratosis follicularis [Darier-White]
Excl.:
Ehlers-Danlos syndrome ( Q79.6)
Q82.9 Congenital malformation of skin, unspecified

Q83 Congenital malformations of breast

Excl.:
absence of pectoral muscle ( Q79.8)
Q83.0 Congenital absence of breast with absent nipple
Q83.1 Accessory breast
Incl.:
Supernumerary breast
Q83.2 Absent nipple
Q83.3 Accessory nipple
Incl.:
Supernumerary nipple
Q83.8 Other congenital malformations of breast
Incl.:
Hypoplasia of breast
Q83.9 Congenital malformation of breast, unspecified

Q84 Other congenital malformations of integument

Q84.0 Congenital alopecia
Incl.:
Congenital atrichosis
Q84.1 Congenital morphological disturbances of hair, not elsewhere classified
Incl.:
Beaded hair
Monilethrix
Pili annulati
Excl.:
Menkes kinky hair syndrome ( E83.0)
Q84.2 Other congenital malformations of hair
Incl.:
Congenital:
  • hypertrichosis
  • malformation of hair NOS
Persistent lanugo
Q84.3 Anonychia
Excl.:
nail patella syndrome ( Q87.2)
Q84.4 Congenital leukonychia
Q84.5 Enlarged and hypertrophic nails
Incl.:
Congenital onychauxis
Pachyonychia
Q84.6 Other congenital malformations of nails
Incl.:
Congenital:
  • clubnail
  • koilonychia
  • malformation of nail NOS
Q84.8 Other specified congenital malformations of integument
Incl.:
Aplasia cutis congenita
Q84.9 Congenital malformation of integument, unspecified
Incl.:
  • Congenital:
    • anomaly NOS
    • deformity NOS
  • of integument NOS

Q85 Phakomatoses, not elsewhere classified

Excl.:
ataxia telangiectasia [Louis-Bar] ( G11.3)
familial dysautonomia [Riley-Day] ( G90.1)
Q85.0 Neurofibromatosis (nonmalignant)
Incl.:
Von Recklinghausen disease
Q85.1 Tuberous sclerosis
Incl.:
Bourneville disease
Epiloia
Q85.8 Other phakomatoses, not elsewhere classified
Incl.:
Syndrome:
  • Peutz-Jeghers
  • Sturge-Weber(-Dimitri)
  • von Hippel-Lindau
Excl.:
Meckel-Gruber syndrome ( Q61.9)
Q85.9 Phakomatosis, unspecified
Incl.:
Hamartosis NOS

Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified

Excl.:
iodine-deficiency-related hypothyroidism ( E00-E02)
nonteratogenic effects of substances transmitted via placenta or breast milk ( P04.-)
Q86.0 Fetal alcohol syndrome (dysmorphic)
Q86.1 Fetal hydantoin syndrome
Incl.:
Meadow syndrome
Q86.2 Dysmorphism due to warfarin
Q86.8 Other congenital malformation syndromes due to known exogenous causes

Q87 Other specified congenital malformation syndromes affecting multiple systems

Q87.0 Congenital malformation syndromes predominantly affecting facial appearance
Incl.:
Acrocephalopolysyndactyly
Acrocephalosyndactyly [Apert]
Cryptophthalmos syndrome
Cyclopia
Syndrome:
  • Goldenhar
  • Moebius
  • oro-facial-digital
  • Robin
Whistling face
Q87.1 Congenital malformation syndromes predominantly associated with short stature
DCS.XVII.1
Incl.:
Syndrome:
  • Aarskog
  • Cockayne
  • De Lange
  • Dubowitz
  • Noonan
  • Prader-Willi
  • Robinow-Silverman-Smith
  • Russell-Silver
  • Seckel
  • Smith-Lemli-Opitz
Excl.:
Ellis-van Creveld syndrome ( Q77.6)
Q87.2 Congenital malformation syndromes predominantly involving limbs
Incl.:
Syndrome:
  • Holt-Oram
  • Klippel-Trénaunay-Weber
  • nail patella
  • Rubinstein-Taybi
  • sirenomelia
  • thrombocytopenia with absent radius [TAR]
  • VATER
Q87.3 Congenital malformation syndromes involving early overgrowth
Incl.:
Syndrome:
  • Beckwith-Wiedemann
  • Sotos
  • Weaver
Q87.4 Marfan syndrome
Q87.5 Other congenital malformation syndromes with other skeletal changes
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
Incl.:
Syndrome:
  • Alport
  • Laurence-Moon(-Bardet)-Biedl
  • Zellweger

Q89 Other congenital malformations, not elsewhere classified

Q89.0 Congenital malformations of spleen
Incl.:
Asplenia (congenital)
Congenital splenomegaly
Excl.:
isomerism of atrial appendages (with asplenia or polysplenia) ( Q20.6)
Q89.1 Congenital malformations of adrenal gland
Excl.:
congenital adrenal hyperplasia ( E25.0)
Q89.2 Congenital malformations of other endocrine glands
Incl.:
Congenital malformation of parathyroid or thyroid gland
Persistent thyroglossal duct
Thyroglossal cyst
Q89.3 Situs inversus
Incl.:
Dextrocardia with situs inversus
Mirror-image atrial arrangement with situs inversus
Situs inversus or transversus:
  • abdominalis
  • thoracis
Transposition of viscera:
  • abdominal
  • thoracic
Excl.:
dextrocardia NOS ( Q24.0)
laevocardia ( Q24.1)
Q89.4 Conjoined twins
Incl.:
Craniopagus
Dicephaly
Double monster
Pygopagus
Thoracopagus
Q89.7 Multiple congenital malformations, not elsewhere classified
Incl.:
Monster NOS
Multiple congenital:
  • anomalies NOS
  • deformities NOS
Excl.:
congenital malformation syndromes affecting multiple systems ( Q87.-)
Q89.8 Other specified congenital malformations
Q89.9 Congenital malformation, unspecified
Incl.:
Congenital:
  • anomaly NOS
  • deformity NOS