Q14.1
BillableCongenital malformation of retina
Congenital malformation of retina
Coding Notes
Inclusion Terms
Alternative clinical terms for this condition
- Congenital retinal aneurysm
Excludes 2
Conditions not included here, but the patient may have both
- •inborn errors of metabolismE70-E88
- •cleft lip and cleft palateQ35-Q37
- •congenital malformation of cervical spine, , ,Q05.0, Q05.5, Q67.5, Q76.0-Q76.4
- •congenital malformation of larynxQ31
- •congenital malformation of lip NECQ38.0
- •congenital malformation of noseQ30
- •congenital malformation of parathyroid glandQ89.2
- •congenital malformation of thyroid glandQ89.2
- •optic nerve hypoplasiaH47.03
Related Codes(5)
ICD-11 Equivalents(1)
ICD-11 Equivalents
View full mappingCorresponding ICD-11 codes from the WHO crosswalk mapping
Also Known As / Clinical Terms(258)
SNOMED CT
- Congenital retinal aneurysm943003
- Retinal haemangioblastomatosis2167004
- Retinal hemangioblastomatosis2167004
- Congenital vascular anomaly of eye2818004
- Congenital anomaly of macula4041005
- Congenital chorioretinal degeneration24210004
- Cornea small26098002
- Microcornea26098002
- Congenital anomaly of retina49381001
- Congenital malformation of retina49381001
- Congenital supravalvular pulmonary stenosis52757001
- Congenital hallux valgus53842005
- Albinotic fundus55819001
- Depigmentation of fundus55819001
- Congenital nystagmus64635004
- Juvenile retinoschisis86923008
- X-linked foveal retinoschisis86923008
- X-linked retinoschisis86923008
- Congenital retinoschisis95493003
- Retinal dysplasia95494009
- Multifocal retinal dysplasia95495005
- Persistent retinal folds95495005
- Geographic retinal dysplasia95496006
- Diffuse retinal dysplasia95497002
- Congenital arteriovenous malformation of retina95501007
- Congenital retinal arteriovenous anastomoses95501007
- Congenital retinal arteriovenous communication95501007
- Retinal arteriovenous anomaly95501007
- Retinal arteriovenous malformation95501007
- Chorioretinal atrophy95686007
- Coloboma of retina204173008
- Congenital retinal fold204181009
- Coloboma of choroid204192005
- Autosomal recessive medullary cystic disease204958008
- Familial juvenile medullary cystic kidney disease204958008
- Familial juvenile nephronophthisis204958008
- Nephronophthisis204958008
- Macular retinoschisis232013002
- Macular and peripheral retinoschisis232014008
- Angiomatosis of retina232073009
- CHRPE - Congenital hypertrophy of retinal pigment epithelium232074003
- Congenital hyperplasia of retinal pigment epithelium232074003
- Congenital hypertrophy of retinal pigment epithelium232074003
- Loken Senior syndrome236531005
- Renal dysplasia and retinal aplasia236531005
- Retinal macroaneurysm247124009
- Retinal arteriovenous shunt247127002
- Retinal pigment deposits247141006
- Retinal pigmentation grouped247142004
- Pulmonary trunk stenosis253621008
- Peripheral retinoschisis361130009
- Brachydactyly syndrome type B389168002
- RPE hypertrophy425217005
- Retinal pigment epithelial hypertrophy425217005
- Congenital hypoplasia of fovea429449002
- Congenital hypoplasia of fovea centralis429449002
- Presenile cataract441622000
- Supravalvar pulmonary trunk stenosis448027004
- Congenital stenosis of pulmonary artery449125001
- Vitreoretinal dysplasia449866003
- Arthrogryposis with oculomotor limitation and electroretinal anomaly715217004
- Distal arthrogryposis type 5715217004
- Distal arthrogryposis with ophthalmoplegia715217004
- Oculomelic amyoplasia715217004
- X-linked retinal dysplasia715240000
- Microcornea with corectopia and macular hypoplasia syndrome716165003
- Coloboma of macula with brachydactyly type B syndrome717785002
- Sorsby syndrome717785002
- Oliver McFarlane syndrome719944006
- Trichomegaly with retina pigmentary degeneration and dwarfism syndrome719944006
- Macular coloboma, cleft palate, hallux valgus syndrome722463001
- Coloboma of macula737579002
- Congenital coloboma of macula lutea737579002
- FRAM - familial retinal arterial macroaneurysm764452004
- Familial retinal arterial macroaneurysm764452004
- RAMSVPS - retinal arterial macroaneurysm with supravalvular pulmonic stenosis764452004
- Retinal arterial macroaneurysm with supravalvular pulmonic stenosis764452004
- Coloboma of choroid and retina768932000
- Foveal hypoplasia with presenile cataract syndrome778042000
- O'Donnell Pappas syndrome778042000
- FHONDA (foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis) syndrome782754006
- FHONDA syndrome782754006
- Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome782754006
- Bilateral coloboma of macula840456001
- Coloboma of bilateral maculae840456001
- Coloboma of both maculae840456001
- Congenital retinal dysplasia caused by teratogenic substance897559009
- Teratogenic congenital retinal dysplasia897559009
- Solitary CHRPE (congenital hypertrophy of retinal pigment epithelium)1142277007
- Solitary congenital hypertrophy of retinal pigment epithelium1142277007
- Unifocal CHRPE (congenital hypertrophy of retinal pigment epithelium)1142277007
- Congenital hypoplasia of retina1144397003
- Congenital retinal hypoplasia1144397003
- Congenital hypoplasia of macula lutea1144408000
- Congenital macular hypoplasia1144408000
- Congenital peripapillary staphyloma1230020008
- Isolated foveal hypoplasia1231150005
- Isolated hypoplasia of fovea centralis1231150005
- Extensive peripapillary myelinated nerve fibers of retina1237337007
- Extensive peripapillary myelinated nerve fibres of retina1237337007
- Myelinated nerve fiber layer of retina1237370002
- Myelinated nerve fibre layer of retina1237370002
- Bilateral choroid degeneration346911000119103
- Choroid degeneration of bilateral eyes346911000119103
- Choroid degeneration of both eyes346911000119103
- Bilateral congenital anomaly of retinas15986791000119106
- Congenital anomaly of bilateral retinas15986791000119106
- Congenital anomaly of both retinas15986791000119106
- Bilateral congenital hypertrophy of retinal pigment epithelium15986551000119109
- Congenital bear track retinal pigment hypertrophy of bilateral eyes15986551000119109
- Congenital hypertrophy of retinal pigment epithelium of bilateral eyes15986551000119109
- Congenital hypertrophy of retinal pigment epithelium of both eyes15986551000119109
- Congenital anomaly of left retina15986751000119101
- Congenital anomaly of retina of left eye15986751000119101
- Congenital anomaly of retina of right eye15986471000119104
- Congenital anomaly of right retina15986471000119104
- Congenital bear track retinal pigment hypertrophy of left eye15986591000119104
- Congenital hypertrophy of retinal pigment epithelium of left eye15986591000119104
- Congenital bear track retinal pigment hypertrophy of right eye15986511000119108
- Congenital hypertrophy of retinal pigment epithelium of right eye15986511000119108
- Congenital chorioretinal degeneration of bilateral eyes15986351000119102
- Congenital chorioretinal degeneration of both eyes15986351000119102
- Congenital chorioretinal degeneration of left eye15986431000119102
- Congenital chorioretinal degeneration of right eye15986391000119107
UMLS
Clinical Terms
- Oculomelic amyoplasia
- Congenital hypoplasia of macula lutea
- Familial retinal arterial macroaneurysm
- Extensive peripapillary myelinated nerve fibers of retina
- Brachydactyly syndrome type B
- Congenital anomaly of retina of right eye
- Congenital hypertrophy of retinal pigment epithelium of both eyes
- Retinal pigment deposits
- Congenital anomaly of retina of left eye
- Cornea small
- Congenital retinoschisis
- Depigmentation of fundus
- Congenital bear track retinal pigment hypertrophy of left eye
- Congenital anomaly of retina
- Coloboma of macula with brachydactyly type B syndrome
- Chorioretinal atrophy
- Retinal pigment epithelial hypertrophy
- Microcornea
- Congenital chorioretinal degeneration of both eyes
- Retinal pigmentation grouped
- Congenital macular hypoplasia
- Congenital vascular anomaly of eye
- Congenital retinal dysplasia caused by teratogenic substance
- Familial juvenile nephronophthisis
- Retinal macroaneurysm
- Congenital chorioretinal degeneration of right eye
- FHONDA syndrome
- Congenital anomaly of bilateral retinas
- Autosomal recessive medullary cystic disease
- Congenital retinal aneurysm (disorder)
- Congenital retinal hypoplasia
- FRAM - familial retinal arterial macroaneurysm
- Congenital peripapillary staphyloma
- Congenital anomaly of macula
- Retinal arteriovenous shunt
- RAMSVPS - retinal arterial macroaneurysm with supravalvular pulmonic stenosis
- Angiomatosis of retina
- Bilateral congenital hypertrophy of retinal pigment epithelium
- Congenital chorioretinal degeneration of bilateral eyes
- Congenital retinal fold
- Congenital nystagmus
- Familial juvenile medullary cystic kidney disease
- Presenile cataract
- Retinal hemangioblastomatosis
- Microcornea with corectopia and macular hypoplasia syndrome
- Congenital hypoplasia of retina
- Sorsby syndrome
- RPE hypertrophy
- Foveal hypoplasia with presenile cataract syndrome
- Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
- Congenital bear track retinal pigment hypertrophy of bilateral eyes
- Peripheral retinoschisis
- Congenital retinal arteriovenous communication
- Congenital hypoplasia of fovea
- Congenital anomaly of right retina
- Renal dysplasia and retinal aplasia
- Myelinated nerve fibre layer of retina
- Congenital coloboma of macula lutea
- Macular retinoschisis
- Solitary CHRPE (congenital hypertrophy of retinal pigment epithelium)
- X-linked retinoschisis
- Persistent retinal folds
- Isolated foveal hypoplasia
- Congenital anomaly of left retina
- Distal arthrogryposis type 5
- Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
- Teratogenic congenital retinal dysplasia
- Arthrogryposis with oculomotor limitation and electroretinal anomaly
- Vitreoretinal dysplasia
- Extensive peripapillary myelinated nerve fibres of retina
- Bilateral coloboma of macula
- Solitary congenital hypertrophy of retinal pigment epithelium
- Loken Senior syndrome
- Pulmonary trunk stenosis
- Nephronophthisis
- FHONDA (foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis) syndrome
- Congenital retinal arteriovenous anastomoses
- Coloboma of macula
- Juvenile retinoschisis
- Coloboma of choroid
- Coloboma of retina
- Coloboma of both maculae
- Coloboma of bilateral maculae
- Congenital arteriovenous malformation of retina
- Choroid degeneration of both eyes
- Supravalvar pulmonary trunk stenosis
- Congenital hypertrophy of retinal pigment epithelium of bilateral eyes
- Congenital hallux valgus
- Congenital hyperplasia of retinal pigment epithelium
- Congenital bear track retinal pigment hypertrophy of right eye
- Diffuse retinal dysplasia
- Congenital chorioretinal degeneration
- Congenital supravalvular pulmonary stenosis
- Myelinated nerve fiber layer of retina
- Retinal dysplasia
- Macular coloboma, cleft palate, hallux valgus syndrome
- Congenital chorioretinal degeneration of left eye
- Congenital hypoplasia of fovea centralis
- Congenital anomaly of both retinas
- O'Donnell Pappas syndrome
- Congenital retinal anomaly NOS
- Retinal haemangioblastomatosis
- Congenital anomaly of retina (disorder)
- Retinal anomaly congenital
- Oliver McFarlane syndrome
- Retinal arteriovenous malformation
- Retinal arteriovenous anomaly
- Congenital stenosis of pulmonary artery
- Congenital hypertrophy of retinal pigment epithelium of left eye
- Multifocal retinal dysplasia
- Macular and peripheral retinoschisis
- Albinotic fundus
- Distal arthrogryposis with ophthalmoplegia
- X-linked retinal dysplasia
- Congenital retinal aneurysm
- CHRPE - Congenital hypertrophy of retinal pigment epithelium
- Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
- Isolated hypoplasia of fovea centralis
- Choroid degeneration of bilateral eyes
- Congenital hypertrophy of retinal pigment epithelium of right eye
- Geographic retinal dysplasia
- Bilateral choroid degeneration
- Coloboma of choroid and retina
- Unifocal CHRPE (congenital hypertrophy of retinal pigment epithelium)
- X-linked foveal retinoschisis
- Congenital hypertrophy of retinal pigment epithelium
- Bilateral congenital anomaly of retinas
Frequently Asked Questions
What is the ICD-10 code for congenital malformation of retina?
The ICD-10-CM code for congenital malformation of retina is Q14.1. The full clinical description is "Congenital malformation of retina". Q14.1 is a billable/specific code that can be used on insurance claims and medical billing.
What does ICD-10 code Q14.1 mean?
ICD-10-CM code Q14.1 represents “Congenital malformation of retina”. It is classified under Chapter 17: Congenital Malformations, Deformations and Chromosomal Abnormalities and is a billable/specific code that can be used on a claim.
Is Q14.1 a billable code?
Yes, Q14.1 is a billable/specific ICD-10-CM code and can be used to indicate a diagnosis on a medical claim.
What chapter is Q14.1 in?
Q14.1 is in Chapter 17: Congenital Malformations, Deformations and Chromosomal Abnormalities (codes Q00-Q99).
What SNOMED CT codes does Q14.1 map to?
Q14.1 maps to 71 SNOMED CT concepts: 55819001, 232073009, 715217004, 204958008, 346911000119103, and 66 more. SNOMED CT is a clinical terminology used in electronic health records.
What are the UMLS CUIs for Q14.1?
Q14.1 is linked to 2 UMLS Concept Unique Identifiers: C0266564, C0266571. The UMLS (Unified Medical Language System) integrates multiple biomedical vocabularies maintained by the U.S. National Library of Medicine.
How does Q14.1 relate to ICF functioning codes?
ICF (International Classification of Functioning, Disability and Health) codes describe how conditions like congenital malformation of retina affect a person's functioning — body functions, activities, participation, and environmental factors. AutoICD provides ICF Core Sets for 12+ conditions and can map clinical text to ICF categories automatically. Browse the ICF directory to explore functioning codes.
What is the ICD-11 equivalent of Q14.1?
Q14.1 maps to the ICD-11 code: LA13.3 (Congenital vitreoretinal dysplasia).
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Includes SNOMED Clinical Terms® (SNOMED CT®) used by permission of SNOMED International. Includes content from the UMLS Metathesaurus, courtesy of the U.S. National Library of Medicine.