Other congenital malformations (Q80-Q89)
Q80Congenital ichthyosis
Excludes 1: Refsum's disease (G60.1)
Q80.0Ichthyosis vulgaris
Q80.1X-linked ichthyosis
Q80.2Lamellar ichthyosis
› Collodion baby
Q80.3Congenital bullous ichthyosiform erythroderma
Q80.4Harlequin fetus
Q80.8Other congenital ichthyosis
Q80.9Congenital ichthyosis, unspecified
Q81Epidermolysis bullosa
Q81.0Epidermolysis bullosa simplex
Excludes 1: Cockayne's syndrome (Q87.19)
Q81.1Epidermolysis bullosa letalis
› Herlitz' syndrome
Q81.2Epidermolysis bullosa dystrophica
Q81.8Other epidermolysis bullosa
Q81.9Epidermolysis bullosa, unspecified
Q82Other congenital malformations of skin
Excludes 1: acrodermatitis enteropathica (E83.2)
› congenital erythropoietic porphyria (E80.0)
› pilonidal cyst or sinus (L05.-)
› Sturge-Weber (-Dimitri) syndrome (Q85.89)
Q82.0Hereditary lymphedema
Q82.1Xeroderma pigmentosum
Q82.2Congenital cutaneous mastocytosis
› Congenital diffuse cutaneous mastocytosis
› Congenital maculopapular cutaneous mastocytosis
› Congenital urticaria pigmentosa
Excludes 1: cutaneous mastocytosis NOS (D47.01)
› diffuse cutaneous mastocytosis (with onset after newborn period) (D47.01)
› malignant mastocytosis (C96.2-)
› systemic mastocytosis (D47.02)
› urticaria pigmentosa (non-congenital) (with onset after newborn period) (D47.01)
Q82.3Incontinentia pigmenti
Q82.4Ectodermal dysplasia (anhidrotic)
Excludes 1: Ellis-van Creveld syndrome (Q77.6)
Q82.5Congenital non-neoplastic nevus
› Birthmark NOS
› Flammeus Nevus
› Portwine Nevus
› Sanguineous Nevus
› Strawberry Nevus
› Vascular Nevus NOS
› Verrucous Nevus
Excludes 2: Café au lait spots (L81.3)
› lentigo (L81.4)
› nevus NOS (D22.-)
› araneus nevus (I78.1)
› melanocytic nevus (D22.-)
› pigmented nevus (D22.-)
› spider nevus (I78.1)
› stellar nevus (I78.1)
Q82.6Congenital sacral dimple
› Parasacral dimple
Excludes 2: pilonidal cyst with abscess (L05.01)
› pilonidal cyst without abscess (L05.91)
Q82.8Other specified congenital malformations of skin
› Abnormal palmar creases
› Accessory skin tags
› Benign familial pemphigus [Hailey-Hailey]
› Congenital poikiloderma
› Cutis laxa (hyperelastica)
› Dermatoglyphic anomalies
› Inherited keratosis palmaris et plantaris
› Keratosis follicularis [Darier-White]
Excludes 1: Ehlers-Danlos syndromes (Q79.6-)
Excludes 2: disorders of pyrophosphate metabolism (E83.82-)
Q82.9Congenital malformation of skin, unspecified
Q83Congenital malformations of breast
Excludes 2: absence of pectoral muscle (Q79.8)
› hypoplasia of breast (N64.82)
› micromastia (N64.82)
Q83.0Congenital absence of breast with absent nipple
Q83.1Accessory breast
› Supernumerary breast
Q83.2Absent nipple
Q83.3Accessory nipple
› Supernumerary nipple
Q83.8Other congenital malformations of breast
Q83.9Congenital malformation of breast, unspecified
Q84Other congenital malformations of integument
Q84.0Congenital alopecia
› Congenital atrichosis
Q84.1Congenital morphological disturbances of hair, not elsewhere classified
› Beaded hair
› Monilethrix
› Pili annulati
Excludes 1: Menkes' kinky hair syndrome (E83.09)
Q84.2Other congenital malformations of hair
› Congenital hypertrichosis
› Congenital malformation of hair NOS
› Persistent lanugo
Q84.3Anonychia
Excludes 1: nail patella syndrome (Q87.2)
Q84.4Congenital leukonychia
Q84.5Enlarged and hypertrophic nails
› Congenital onychauxis
› Pachyonychia
Q84.6Other congenital malformations of nails
› Congenital clubnail
› Congenital koilonychia
› Congenital malformation of nail NOS
Q84.8Other specified congenital malformations of integument
› Aplasia cutis congenita
Q84.9Congenital malformation of integument, unspecified
› Congenital anomaly of integument NOS
› Congenital deformity of integument NOS
Q85Phakomatoses, not elsewhere classified
Excludes 1: ataxia telangiectasia [Louis-Bar] (G11.3)
› familial dysautonomia [Riley-Day] (G90.1)
Q85.0Neurofibromatosis (nonmalignant)
Q85.00Neurofibromatosis, unspecified
Q85.01Neurofibromatosis, type 1
› Von Recklinghausen disease
Q85.02Neurofibromatosis, type 2
› Acoustic neurofibromatosis
Q85.03Schwannomatosis
Q85.09Other neurofibromatosis
Q85.1Tuberous sclerosis
› Bourneville's disease
› Epiloia
Q85.8Other phakomatoses, not elsewhere classified
Excludes 1: Meckel-Gruber syndrome (Q61.9)
Q85.81PTEN hamartoma tumor syndrome
› PHTS
› PTEN related Cowden syndrome
Code Also: , if applicable, genetic susceptibility to malignant neoplasm (Z15.0-)
Q85.82Other Cowden syndrome
Q85.83Von Hippel-Lindau syndrome
Code Also: manifestations
Q85.89Other phakomatoses, not elsewhere classified
› Peutz-Jeghers syndrome
› Sturge-Weber(-Dimitri) syndrome
Q85.9Phakomatosis, unspecified
› Hamartosis NOS
Q86Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
Excludes 2: iodine-deficiency-related hypothyroidism (E00-E02)
› nonteratogenic effects of substances transmitted via placenta or breast milk (P04.-)
Q86.0Fetal alcohol syndrome (dysmorphic)
Q86.1Fetal hydantoin syndrome
› Meadow's syndrome
Q86.2Dysmorphism due to warfarin
Q86.8Other congenital malformation syndromes due to known exogenous causes
Q87Other specified congenital malformation syndromes affecting multiple systems
Use Additional Code: code(s) to identify all associated manifestations
Q87.0Congenital malformation syndromes predominantly affecting facial appearance
› Acrocephalopolysyndactyly
› Acrocephalosyndactyly [Apert]
› Cryptophthalmos syndrome
› Cyclopia
› Goldenhar syndrome
› Moebius syndrome
› Oro-facial-digital syndrome
› Robin syndrome
› Whistling face
Q87.1Congenital malformation syndromes predominantly associated with short stature
Excludes 1: Ellis-van Creveld syndrome (Q77.6)
› Smith-Lemli-Opitz syndrome (E78.72)
Q87.11Prader-Willi syndrome
Q87.19Other congenital malformation syndromes predominantly associated with short stature
› Aarskog syndrome
› Cockayne syndrome
› De Lange syndrome
› Dubowitz syndrome
› Noonan syndrome
› Robinow-Silverman-Smith syndrome
› Russell-Silver syndrome
› Seckel syndrome
Q87.2Congenital malformation syndromes predominantly involving limbs
› Holt-Oram syndrome
› Klippel-Trenaunay-Weber syndrome
› Nail patella syndrome
› Rubinstein-Taybi syndrome
› Sirenomelia syndrome
› Thrombocytopenia with absent radius [TAR] syndrome
› VATER syndrome
Q87.3Congenital malformation syndromes involving early overgrowth
› Beckwith-Wiedemann syndrome
› Sotos syndrome
› Weaver syndrome
Q87.4Marfan syndrome
Q87.40Marfan syndrome, unspecified
Q87.41Marfan syndrome with cardiovascular manifestations
Q87.410Marfan syndrome with aortic dilation
Q87.418Marfan syndrome with other cardiovascular manifestations
Q87.42Marfan syndrome with ocular manifestations
Q87.43Marfan syndrome with skeletal manifestation
Q87.5Other congenital malformation syndromes with other skeletal changes
Q87.8Other specified congenital malformation syndromes, not elsewhere classified
Excludes 1: Zellweger syndrome (E71.510)
Q87.81Alport syndrome
Use Additional Code: code to identify stage of chronic kidney disease (N18.1-N18.6)
Q87.82Arterial tortuosity syndrome
Q87.83Bardet-Biedl syndrome
Q87.84Laurence-Moon syndrome
Q87.85MED13L syndrome
› Asadollahi-Rauch syndrome
› Mediator complex subunit 13L syndrome
Code Also: , if applicable, any associated manifestations such as:
› autism spectrum disorder (F84.0-)
› congenital malformations of cardiac septa (Q21.-)
› epilepsy and recurrent seizures (G40.-)
› intellectual disability (F70-F79)
Q87.86Kleefstra syndrome
Q87.87Hao-Fountain Syndrome
› HAFOUS
Use Additional Code: code, if applicable, for associated conditions such as:
› autism spectrum disorder (F84.0)
› developmental speech disorder (F80.-)
› epilepsy, by specific type (G40.-)
› intellectual disabilities (F70-F79)
› pervasive developmental disorders (F84.-)
Q87.88CTNNB1 syndrome
Use Additional Code: code, if applicable, for associated conditions such as:
› cerebral palsy (G80.-)
› congenital heart malformations (Q20.0-Q24.9)
› developmental disorder of speech and language (F80.-)
› exudative retinopathy (H35.02-)
› intellectual disability (F70-F79)
› microcephaly (Q02)
Q87.89Other specified congenital malformation syndromes, not elsewhere classified
Q89Other congenital malformations, not elsewhere classified
Q89.0Congenital absence and malformations of spleen
Excludes 1: isomerism of atrial appendages (with asplenia or polysplenia) (Q20.6)
Q89.01Asplenia (congenital)
Q89.09Congenital malformations of spleen
› Congenital splenomegaly
Q89.1Congenital malformations of adrenal gland
Excludes 1: adrenogenital disorders (E25.-)
› congenital adrenal hyperplasia (E25.0)
Q89.2Congenital malformations of other endocrine glands
› Congenital malformation of parathyroid or thyroid gland
› Persistent thyroglossal duct
› Thyroglossal cyst
Excludes 1: congenital goiter (E03.0)
› congenital hypothyroidism (E03.1)
Q89.3Situs inversus
› Dextrocardia with situs inversus
› Mirror-image atrial arrangement with situs inversus
› Situs inversus or transversus abdominalis
› Situs inversus or transversus thoracis
› Transposition of abdominal viscera
› Transposition of thoracic viscera
Excludes 1: dextrocardia NOS (Q24.0)
Q89.4Conjoined twins
› Craniopagus
› Dicephaly
› Pygopagus
› Thoracopagus
Q89.7Multiple congenital malformations, not elsewhere classified
› Multiple congenital anomalies NOS
› Multiple congenital deformities NOS
Excludes 1: congenital malformation syndromes affecting multiple systems (Q87.-)
Q89.8Other specified congenital malformations
Use Additional Code: code(s) to identify all associated manifestations
Q89.81Kabuki syndrome
› Kabuki syndrome, type 1, due to KMT2D mutation
› Kabuki syndrome, type 2, due to KDM6A mutation
› Niikawa-Kuroki syndrome
Q89.89Other specified congenital malformations
Q89.9Congenital malformation, unspecified
› Congenital anomaly NOS
› Congenital deformity NOS