Appendices

Appendix B: External minor congenital anomalies

Eye

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

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Ear

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

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Face and neck

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

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Peripheral vascular system

Peripheral vascular system
Congenital anomaly ICD-10 (12) or RCPCH code (34)
Single umbilical artery Q27.0

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Nose

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

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Mouth

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

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Anus and genitalia

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

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Foot

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

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Head, face, spine and chest

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

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Other musculoskeletal (including limbs)

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

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Other anomalies of skull, face and spine

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

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Abdomen

Abdomen
Congenital anomaly ICD-10 (12) or RCPCH code (34)
Diastasis recti Q79.5
Inguinal hernia Q79.8
Umbilical hernia Q79.8

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Skin, breast and other integument

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

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