Appendices
Appendix B: External minor congenital anomalies
Eye
| Congenital anomaly | ICD-10 (12) or RCPCH code (34) |
|---|---|
| Congenital ectropion | Q10.1 |
| Congenital entropion | Q10.2 |
| Absence of eyelashes | Q10.3 |
| Dystopia canthorum | Q10.3 |
| Epicanthal folds | Q10.3 |
| Epicanthus inversus | Q10.3 |
| Fused eyelids | Q10.3 |
| Long palpebral fissure(s) | Q10.3 |
| Upward or downward slanting palpebral fissures | Q10.3 |
| Short palpebral fissures | Q10.3 |
| Long eyelashes | Q10.3 |
| Weakness of eyelids | Q10.3 |
| Stenosis or stricture of lacrimal duct | Q10.5 |
| Coloboma of iris | Q13.0 |
| Brushfield spots | Q13.2 |
| Iris freckles | Q13.2 |
| Blue sclera | Q13.5 |
| Exophthalmos | Q15.8 |
| Strabismus | Q15.8 |
Ear
| Congenital anomaly | ICD-10 (12) or RCPCH code (34) |
|---|---|
| Accessory tragus | Q17.0 |
| Auricular tag or pit | Q17.0 |
| Double ear lobule | Q17.0 |
| Ear pit or tag | Q17.0 |
| Preauricular appendage, tag or lobule | Q17.0 |
| Large ears | Q17.1 |
| Macrotia | Q17.1 |
| Absent tragus | Q17.3 |
| Asymmetric sized ears | Q17.3 |
| Crumpled ears | Q17.3 |
| Cup ear | Q17.3 |
| Ear lobe crease | Q17.3 |
| Ear lobe notch | Q17.3 |
| Lack of helical fold | Q17.3 |
| Lop ear | Q17.3 |
| Misshapen ears | Q17.3 |
| Pointed ear | Q17.3 |
| Primitive shape of ear | Q17.3 |
| Protruding ears | Q17.3 |
| Simple ear | Q17.3 |
| Small ears (excludes true microtia) | Q17.3 |
| Thickened or overfolded helix | Q17.3 |
| Low-set ears | Q17.4 |
| Misplaced ear | Q17.4 |
| Posteriorly rotated ears | Q17.4 |
| Bat ear | Q17.5 |
| Prominent ears | Q17.5 |
| Darwinian tubercle | Q17.8 |
| Narrow external auditory meatus | Q17.8 |
Face and neck
| Congenital anomaly | ICD-10 (12) or RCPCH code (34) |
|---|---|
| Branchial vestige | Q18.0 |
| Branchial tag or pit | Q18.0 |
| Fistula of auricle, congenital and fistula cervicoaural | Q18.1 |
| Pretragal (commonly referred to as preauricular) sinus and cyst | Q18.1 |
| Redundant neck folds | Q18.3 |
| Webbed neck (pterygium colli) | Q18.3 |
| Macrostomia | Q18.4 |
| Microstomia | Q18.5 |
| Hypertrophy of lip, congenital or macrocheilia or large wide lips | Q18.6 |
| Short or long columella | Q18.8 |
| Angular lip pits | Q18.8 |
| Small lips | Q18.8 |
| Short neck | Q18.8 |
| Thin vermilion border | Q18.8 |
| Synophrys, confluent or medial flare eyebrows | Q18.80 |
Peripheral vascular system
| Congenital anomaly | ICD-10 (12) or RCPCH code (34) |
|---|---|
| Single umbilical artery | Q27.0 |
Nose
| Congenital anomaly | ICD-10 (12) or RCPCH code (34) |
|---|---|
| Notched or hypoplastic alae nasi | Q30.2 |
| Anteverted nares | Q30.8 |
| Flat or wide nasal bridge | Q30.8 |
| Small nares | Q30.8 |
| Smooth philtrum | Q30.8 |
Mouth
| Congenital anomaly | ICD-10 (12) or RCPCH code (34) |
|---|---|
| Cleft uvula | Q35.7 |
| Tongue tie | Q38.1 |
| Macroglossia | Q38.2 |
| Adhesion of tongue | Q38.3 |
| Bifid tongue | Q38.3 |
| Fissure of tongue | Q38.3 |
| Hypoglossia | Q38.3 |
| Hypoplasia of tongue | Q38.3 |
| Microglossia (hypoplasia of tongue) | Q38.3 |
| Ranula | Q38.4 |
| Absent uvula | Q38.5 |
| High arched palate | Q38.50 |
| Aberrant frenula | Q38.6 |
| Broad alveolar ridge | Q38.6 |
| Cleft gum (in the absence of cleft lip) | Q38.6 |
| Natal teeth | Q38.6 |
Anus and genitalia
| Congenital anomaly | ICD-10 (12) or RCPCH code (34) |
|---|---|
| Anterior anus (ectopic anus) | Q43.5 |
| Imperforate hymen | Q52.3 |
| Embryonal cyst of vagina | Q52.4 |
| Fusion of labia | Q52.5 |
| Fusion of vulva | Q52.5 |
| Prominent clitoris | Q52.6 or Q52.8 |
| Hypoplastic labia majora | Q52.8 |
| Hypoplastic labia minora | Q52.8 |
| Undescended testicle, unilateral | Q53.1 |
| Undescended testicle, bilateral | Q53.2 |
| Undescended testicle, unspecified | Q53.9 |
| Chordee (without hypospadias) | Q54.4 |
| Hypoplasia of testis and scrotum | Q55.1 |
| Shawl scrotum | Q55.2 |
| Retractile testis | Q55.20 |
| Bifid scrotum | Q55.21 |
| Absent or hooded foreskin of penis | Q55.6 |
| Curvature of penis lateral | Q55.6 |
| Phimosis | Q55.6 |
| Redundant foreskin | Q55.6 |
| Small penis (unless documented as micropenis) | Q55.6 |
| Hydrocele of testis | Q55.8 |
| Scrotalization of phallus | Q55.9 |
Foot
| Congenital anomaly | ICD-10 (12) or RCPCH code (34) |
|---|---|
| Metatarsus varus or metatarsus adductus | Q66.2 |
| Hallux varus | Q66.3 |
| Congenital pes planus | Q66.5 |
| Hallux valgus | Q66.6 |
| Metatarsus valgus | Q66.6 |
| Pes cavus | Q66.7 |
| Hammer toe, congenital | Q66.8 |
| Long toes | Q66.8 |
| Prominent calcaneus | Q66.8 |
| Prominent heel | Q66.8 |
| Short great toe | Q66.8 |
| Vertical talus | Q66.8 |
| Widely spaced first and second toes | Q66.8 |
| Recessed fourth and fifth toes | Q66.8 |
| Short fourth metatarsus | Q66.8 |
| Short or broad great toe | Q66.8 |
| Rocker-bottom feet | Q66.8 |
| Overlapping toe | Q66.8 |
Head, face, spine and chest
| Congenital anomaly | ICD-10 (12) or RCPCH code (34) |
|---|---|
| Facial asymmetry | Q67.0 |
| Compression facies | Q67.1 |
| Dolichocephaly | Q67.2 |
| Flat occiput | Q67.3 |
| Head asymmetry | Q67.3 |
| Plagiocephaly | Q67.3 |
| Squashed or bent nose, congenital | Q67.4 |
| Deviation of nasal septum | Q67.41 |
| Funnel chest | Q67.6 |
| Pectus excavatum | Q67.6 |
| Congenital pigeon chest | Q67.7 |
| Pectus carinatum | Q67.7 |
| Barrel chest | Q67.8 |
| Deformed chest | Q67.8 |
| Prominent sternum | Q67.8 |
| Shield-like chest | Q67.8 |
Other musculoskeletal (including limbs)
| Congenital anomaly | ICD-10 (12) or RCPCH code (34) |
|---|---|
| Congenital deformity of sternocleidomastoid muscle | Q68.0 |
| Contracture of sternocleidomastoid (muscle) | Q68.0 |
| Congenital torticollis | Q68.0 |
| Camptodactyly | Q68.1 |
| Congenital clubfinger | Q68.1 |
| Long fingers | Q68.1 |
| Overlapping digits, not otherwise specified | Q68.1 |
| Short fourth metacarpal | Q68.1 |
| Single crease fifth finger | Q68.1 |
| Tapered fingers | Q68.1 |
| Short fingers | Q68.1 |
| Clinodactyly | Q68.10 |
| Genu recurvatum | Q68.21 |
| Cubitus valgus | Q68.8 |
| Hyperextended joints, not otherwise specified | Q68.8 |
| Hyperextended knee | Q68.8 |
| Polydactyly type B of fingers (type B is, by definition, post axial and rudimentary (postminimi); type A is postaxial, fully developed is a major anomaly – Q69.02A, and is not a minor anomaly) | Q69.02B |
| Polydactyly type B, not otherwise specified | Q69.02B |
| Polydactyly type B of toes | Q69.22B |
| Syndactyly (involving second and third toes) | Q70.3 |
| Genu valgum | Q74.1 |
Other anomalies of skull, face and spine
| Congenital anomaly | ICD-10 (12) or RCPCH code (34) |
|---|---|
| Scaphocephaly | Q75.0 |
| Trigonocephaly, other head deformations without synostosis | Q75.0 |
| Hypertelorism | Q75.2 |
| Macrocephaly (includes familial benign macrocephaly) | Q75.3 |
| Hypotelorism | Q75.8 |
| Maxillary hypoplasia or prominence | Q75.8 |
| Micrognathia | Q75.8 |
| Prognathia | Q75.8 |
| Frontal bossing | Q75.8 or Q75.80 |
| Large or small fontanelles | Q75.8 or Q75.80 |
| Metopic suture open to bregma | Q75.8 or Q75.80 |
| Narrow bifrontal diameter | Q75.8 or Q75.80 |
| Prominent occiput | Q75.8 or Q75.80 |
| Prominent or hypoplastic supraorbital ridges | Q75.8 or Q75.80 |
| Third fontanelle | Q75.8 or Q75.80 |
| Spina bifida occulta | Q76.0 |
| Congenital lordosis, postural | Q76.43 |
Abdomen
| Congenital anomaly | ICD-10 (12) or RCPCH code (34) |
|---|---|
| Diastasis recti | Q79.5 |
| Inguinal hernia | Q79.8 |
| Umbilical hernia | Q79.8 |
Skin, breast and other integument
| Congenital anomaly | ICD-10 (12) or RCPCH code (34) |
|---|---|
| Skin cyst | Q82.4 or Q84.4 |
| Angioma | Q82.5 |
| Benign skin neoplasm, pigmented naevus (ear and auditory canal) Q82.5 Benign skin neoplasm, pigmented naevus (eyelid) | Q82.5 |
| Benign skin neoplasm, pigmented naevus (face) | Q82.5 |
| Benign skin neoplasm, pigmented naevus (lip) | Q82.5 |
| Benign skin neoplasm, pigmented naevus (lower limb, hip) | Q82.5 |
| Benign skin neoplasm, pigmented naevus (other specified site) | Q82.5 |
| Benign skin neoplasm, pigmented naevus (scalp, neck) | Q82.5 |
| Benign skin neoplasm, pigmented naevus (trunk) | Q82.5 |
| Benign skin neoplasm, pigmented naevus (unspecified site) | Q82.5 |
| Benign skin neoplasm, pigmented naevus (upper limb, shoulder) | Q82.5 |
| Café-au-lait spot | Q82.5 |
| Hemangioma (other than face and neck) | Q82.5 |
| Lymphangioma | Q82.5 |
| Noncavernous, single, small hemangioma (4 cm diameter) | Q82.5 |
| Pigmented naevus, congenital non-neoplastic naevus | Q82.5 |
| Birthmark | Q82.50 |
| Naevus flammeus | Q82.51 |
| Port-wine stain | Q82.51 |
| Strawberry naevus | Q82.51 |
| Mongolian spot | Q82.52 |
| Cutis marmorata | Q82.8 or Q84.8 |
| Dimple, hand | Q82.8 or Q84.8 |
| Dimple, shoulder | Q82.8 or Q84.8 |
| Extra or absent hand or interphalangeal creases | Q82.8 or Q84.8 |
| Pilonidal or sacral dimple | Q82.8 or Q84.8 |
| Plantar furrow | Q82.8 or Q84.8 |
| Rectal fissure | Q82.8 or Q84.8 |
| Sole crease | Q82.8 or Q84.8 |
| Vaginal or hymenal tags | Q82.8 or Q84.8 |
| Single transverse palmar crease | Q82.80 |
| Anal tag | Q82.81 |
| Skin tag | Q82.81 |
| Unusual dermatoglyphics | Q82.84 |
| Absent nipple | Q83.2 |
| Extra nipples (supernumerary nipples) | Q83.3 |
| Supernumerary nipple | Q83.3 |
| Inverted nipples | Q83.8 |
| Small nipple (hypoplastic) | Q83.8 |
| Widely spaced nipples | Q83.8 |
| Monilethrix | Q84.1 |
| Pili annulati | Q84.1 |
| Pili torti | Q84.1 |
| Aberrant scalp hair patterning | Q84.1 or Q84.2 |
| Depigmentary hair changes | Q84.1 or Q84.2 |
| Hair upsweep | Q84.1 or Q84.2 |
| Low posterior hairline | Q84.1 or Q84.2 |
| Persistent lanugo | Q84.2 |
| Congenital hypertrichosis | Q84.20 |
| Absent nails (major if third phalanx is missing) | Q84.3 |
| Enlarged or hypertrophic nails | Q84.5 |
| Pachyonychia | Q84.5 |
| Congenital clubnail, koilonychia, malformation of nail, not otherwise specified | Q84.6 |
| Duplication of thumbnail | Q84.6 |
| Hyperconvex fingernails | Q84.6 |
| Hyperconvex toenails | Q84.6 |
| Hypoplastic fingernails | Q84.6 |
| Hypoplastic toenails | Q84.6 |
| Thickened toenails | Q84.6 |
| Aplasia cutis (major if large) | Q84.8 |
Page last reviewed: November 8, 2019