Chapter XVII

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Q80 Congenital ichthyosis
Excludes: Refsum's disease ( G60.1 )
Q80.0 Ichthyosis vulgaris
Q80.1 X-linked ichthyosis
Q80.2 Lamellar ichthyosis
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
Excludes: Cockayne's syndrome ( Q87.1 )
Q81.1 Epidermolysis bullosa letalis
Herlitz' syndrome
Q81.2 Epidermolysis bullosa dystrophica
Q81.8 Other epidermolysis bullosa
Q81.9 Epidermolysis bullosa, unspecified

Q82 Other congenital malformations of skin
Excludes: 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
Urticaria pigmentosa
Excludes: malignant mastocytosis ( C96.2 )
Q82.3 Incontinentia pigmenti
Q82.4 Ectodermal dysplasia (anhidrotic)
Excludes: Ellis-van Creveld syndrome ( Q77.6 )
Q82.5 Congenital non-neoplastic naevus
Birthmark NOS
· flammeus
· portwine
· sanguineous
· strawberry
· vascular NOS
· verrucous
Excludes: café au lait spots ( L81.3 )
lentigo ( L81.4 )
· NOS ( D22.- )
· araneus ( I78.1 )
· melanocytic ( D22.- )
· pigmented ( D22.- )
· spider ( I78.1 )
· stellar ( I78.1 )
Q82.8 Other specified congenital malformations of skin
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]
Excludes: Ehlers-Danlos syndrome ( Q79.6 )
Q82.9 Congenital malformation of skin, unspecified

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

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

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

Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
Excludes: 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
Meadow's 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
Acrocephalosyndactyly [Apert]
Cryptophthalmos syndrome
· Goldenhar
· Moebius
· oro-facial-digital
· Robin
Whistling face
Q87.1 Congenital malformation syndromes predominantly associated with short stature
· Aarskog
· Cockayne
· De Lange
· Dubowitz
· Noonan
· Prader-Willi
· Robinow-Silverman-Smith
· Russell-Silver
· Seckel
· Smith-Lemli-Opitz
Excludes: Ellis-van Creveld syndrome ( Q77.6 )
Q87.2 Congenital malformation syndromes predominantly involving limbs
· Holt-Oram
· Klippel-Trénaunay-Weber
· nail patella
· Rubinstein-Taybi
· sirenomelia
· thrombocytopenia with absent radius [TAR]
Q87.3 Congenital malformation syndromes involving early overgrowth
· Beckwith-Wiedemann
· Sotos
· Weaver
Q87.4 Marfan's syndrome
Q87.5 Other congenital malformation syndromes with other skeletal changes
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
· Alport
· Laurence-Moon(-Bardet)-Biedl
· Zellweger

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