Hereditary disorder of the visual system

Code	`363343008`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20020131

718575002Ablepharon macrostomia syndrome disorder

718574003Abruzzo Erickson syndrome disorder

720415006Acrorenoocular syndrome disorder

725464001Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy disorder

722282008Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome disorder

80651009Aicardi's syndrome disorder

253215004Alacrima disorder

55819001Albinotic fundus disorder

720467005Aniridia and absent patella syndrome disorder

720468000Aniridia and intellectual disability syndrome disorder

720987001Aniridia, ptosis, intellectual disability, familial obesity syndrome disorder

733116005Aniridia, renal agenesis, psychomotor retardation syndrome disorder

720496006Anophthalmia plus syndrome disorder

1222706005Anterior maxillary protrusion, strabismus, intellectual disability syndrome disorder

723554006Aplasia cutis congenita with epibulbar dermoid syndrome disorder

720499004Aplasia cutis with myopia syndrome disorder

715656004Aplasia of lacrimal and salivary gland disorder

783203003Ataxia with tapetoretinal degeneration syndrome disorder

763066009Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome disorder

15228007Atrophia bulborum hereditaria disorder

312921000Autosomal dominant cystoid macular oedema disorder

715339004Autosomal dominant keratitis disorder

1229999001Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome disorder

770791000Autosomal dominant neovascular inflammatory vitreoretinopathy disorder

827115000Autosomal dominant progressive external ophthalmoplegia disorder

716197003Autosomal dominant pterygium of conjunctiva disorder

773727009Autosomal dominant rhegmatogenous retinal detachment disorder

715366004Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 disorder

725408001Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 disorder

766814006Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome disorder

770898002Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency disorder

770404004Autosomal recessive chorioretinopathy and microcephaly syndrome disorder

1197358003Autosomal recessive dysgenesis of anterior segment of eye disorder

827117008Autosomal recessive progressive external ophthalmoplegia disorder

1204415006Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome disorder

204152008Axenfeld anomaly disorder

763387005Best vitelliform macular dystrophy disorder

778009001Blepharophimosis, intellectual disability syndrome, Verloes type disorder

717914000Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome disorder

717915004Blepharoptosis, myopia, ectopia lentis syndrome disorder

717920004Blindness, scoliosis, arachnodactyly syndrome disorder

782914000Brachydactyly, short stature, retinitis pigmentosa syndrome disorder

711163009Bradyopsia disorder

719096006Brittle cornea syndrome disorder

720609003Cardiomyopathy with cataract and hip spine disease syndrome disorder

722382006Cataract and microcornea syndrome disorder

718851007Cataract glaucoma syndrome disorder

726704006Cataract, congenital heart disease, neural tube defect syndrome disorder

1220595008Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome disorder

1217230002Cerebellar ataxia with oculomotor apraxia type 4 disorder

763344007Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome disorder

711482008Cerebroretinal microangiopathy with calcifications and cysts disorder

787172004Childhood-onset autosomal recessive myopathy with external ophthalmoplegia disorder

715528001Cochleosaccular degeneration and cataract syndrome disorder

717785002Coloboma of macula with brachydactyly type B syndrome disorder

720639008Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome disorder

776204008Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome disorder

764942005Colobomatous microphthalmia, rhizomelic dysplasia syndrome disorder

35691006Combined deficiency of sialidase AND beta galactosidase disorder

204138006Congenital blue dot cataract disorder

732952003Congenital cataract ichthyosis syndrome disorder

1279837000Congenital cataract microcornea with corneal opacity disorder

719102004Congenital cataract with ataxia and deafness syndrome disorder

722378009Congenital cataract with deafness and hypogonadism syndrome disorder

722379001Congenital cataract with hypertrichosis and intellectual disability syndrome disorder

773648002Congenital cataract, hearing loss, severe developmental delay syndrome disorder

717812000Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome disorder

773398005Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome disorder

702433001Congenital cataracts, facial dysmorphism and neuropathy disorder

715436007Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration disorder

722389002Congenital hereditary facial paralysis with variable hearing loss syndrome disorder

715429006Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome disorder

253226005Congenital sutural cataract disorder

890350009Coralliform cataract disorder

732251003Cortical blindness, intellectual disability, polydactyly syndrome disorder

722381004Crome syndrome disorder

204102004Cryptophthalmos syndrome disorder

721082002Dacryocystitis and osteopoikilosis syndrome disorder

721084001Deaf blind hypopigmentation syndrome Yemenite type disorder

720506002Deafness and myopia syndrome disorder

236528009Diffuse mesangial sclerosis with ocular abnormalities disorder

15993551000119100Disorder of eye co-occurrent and due to Marfan syndrome disorder

8634009Distichiasis-lymphoedema syndrome disorder

1230014007Duane retraction syndrome with congenital deafness disorder

733070005Duplication of eyebrow and syndactyly syndrome disorder

722439009EDICT syndrome disorder

773548008Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome disorder

721208007Ectodermal dysplasia with blindness syndrome disorder

419237004Ectopia lentis et pupillae disorder

722437006Ectopia lentis, chorioretinal dystrophy, myopia syndrome disorder

715980003Encephalopathy due to sulphite oxidase deficiency disorder

733049004Encephalopathy, intracerebral calcification, retinal degeneration syndrome disorder

1208480004Epibulbar lipodermoid, preauricular appendage, polythelia syndrome disorder

733032006Epilepsy telangiectasia syndrome disorder

1208342001Eye defects, arachnodactyly, cardiopathy syndrome disorder

770728003Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome disorder

733417008Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome disorder

1230016009Familial congenital nasolacrimal duct obstruction disorder

782679002Familial congenital palsy of trochlear nerve disorder

717787005Familial hypomagnesaemia hypercalciuria nephrocalcinosis with severe ocular involvement disorder

764523004Familial isolated trichomegaly disorder

238092004Fish-eye disease disorder

778042000Foveal hypoplasia with presenile cataract syndrome disorder

782754006Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome disorder

720958002Frank-Ter Haar syndrome disorder

773628009Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome disorder

770437002Fundus pulverulentus disorder

722450007GEMSS syndrome disorder

716024001GMS syndrome disorder

719976001Glaucoma and sleep apnoea syndrome None

1172696009Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome disorder

699861000Granulomatous inflammatory arthritis, dermatitis and uveitis, familial disorder

205548006Harlequin ichthyosis disorder

724384008Helicoid peripapillary chorioretinal degeneration disorder

733046006Hemifacial hyperplasia strabismus syndrome disorder

74469006Hereditary choroidal dystrophy disorder

77797009Hereditary corneal dystrophy disorder

724349009Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome disorder

41799005Hereditary retinal dystrophy disorder

1371021006Hereditary retinoblastoma disorder

232062002Hereditary vitreoretinopathy disorder

702381007Horizontal gaze palsy with progressive scoliosis disorder

702398007Hyperferritinemia cataract syndrome disorder

721233005Hypergonadotropic hypogonadism with cataract syndrome disorder

722284009Hypoplasia and coloboma of alar cartilage with telecanthus syndrome disorder

723364003Hypotrichosis with juvenile macular degeneration syndrome disorder

783551005Ichthyosis, short stature, brachydactyly, microspherophakia syndrome disorder

1217371005Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome disorder

312942003Inherited optic neuropathy disorder

773405004Intellectual disability with strabismus syndrome disorder

726709001Intellectual disability, cataract, calcified pinna, myopathy syndrome disorder

1351838008Intellectual disability, early-onset cataract, microcephaly syndrome disorder

774102003Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome disorder

734026006Isolated congenital megalocornea disorder

718691008Isolated cryptophthalmos disorder

716998009Joubert syndrome with ocular defect disorder

721862000Joubert syndrome with oculorenal defect disorder

722457005Juvenile cataract, microcornea, renal glucosuria syndrome disorder

715989002Karandikar Maria Kamble syndrome disorder

722032005Karsch Neugebauer syndrome disorder

1336030008Keratitis fugax hereditaria disorder

1217370006LAMA5-related multisystemic syndrome disorder

438504004Lenz microphthalmia syndrome disorder

79385002Lowe syndrome disorder

721974000Lowry MacLean syndrome disorder

724137002MOMO syndrome disorder

773282001Macrosomia, microphthalmia, cleft palate syndrome disorder

723366001Macrostomia, preauricular tag, external ophthalmoplegia syndrome disorder

722463001Macular coloboma, cleft palate, hallux valgus syndrome disorder

80734006Marinesco-Sjögren syndrome disorder

722458000Matthew Wood syndrome disorder

733522005Megalocornea with intellectual disability syndrome disorder

783246000Megalocornea, spherophakia, secondary glaucoma syndrome disorder

723403008Microbrachycephaly, ptosis, cleft lip syndrome disorder

1172683008Microcephaly, congenital cataract, psoriasiform dermatitis syndrome disorder

1279889005Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome disorder

716165003Microcornea with corectopia and macular hypoplasia syndrome disorder

716166002Microcornea with glaucoma and absent frontal sinus syndrome disorder

774212003Microcornea, myopic chorioretinal atrophy, telecanthus syndrome disorder

717222003Microphthalmia with ankyloblepharon and intellectual disability syndrome disorder

721878003Microphthalmia with brain and digit anomaly disorder

720010009Microphthalmia with brain atrophy syndrome disorder

721879006Microphthalmia with linear skin defect syndrome disorder

724140002Microspherophakia with metaphyseal dysplasia syndrome disorder

724139004Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome disorder

718214007Mitochondrial neurogastrointestinal encephalomyopathy syndrome disorder

766987006Moebius syndrome disorder

782724001Multisystemic smooth muscle dysfunction syndrome disorder

785298001Muscle eye brain disease with bilateral multicystic leukodystrophy disorder

237611007Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus disorder

1217379007NKX6-2-related autosomal recessive hypomyelinating leucodystrophy disorder

445257004Nance-Horan syndrome disorder

723411003Nasopalpebral lipoma coloboma syndrome disorder

716170005Nathalie syndrome disorder

1217381009Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome disorder

1373775000Neuronal ceroid lipofuscinosis type 11 disorder

1375926009Neuronal ceroid lipofuscinosis type 3 disorder

26399002Ocular albinism disorder

405809000Ocular motor apraxia Cogan type disorder

763815000Oculoauricular syndrome Schorderet type disorder

1255268002Oculocerebrodental syndrome disorder

722056009Oculocerebrofacial syndrome Kaufman type disorder

63844009Oculocutaneous albinism disorder

722060007Oculogastrointestinal muscular dystrophy disorder

77097004Oculopharyngeal muscular dystrophy disorder

763829004Oculopharyngodistal myopathy disorder

699297004Ohdo syndrome, Maat-Kievit-Brunner type disorder

699298009Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant disorder

719944006Oliver McFarlane syndrome disorder

703403003Ophthalmo-acromelic syndrome disorder

718680001Oro-facial digital syndrome type 9 disorder

63890001Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta disorder

64404003Osteogenesis imperfecta with blue sclerae AND normal teeth disorder

15552004Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts disorder

722113001Osteoporosis and oculocutaneous hypopigmentation syndrome disorder

449817000Peters plus syndrome disorder

723449004Pierson syndrome disorder

723450004Pigmented paravenous retinochoroidal atrophy disorder

771240009Pilodental dysplasia, refractive errors syndrome disorder

733087007Polydactyly myopia syndrome disorder

773627004Porencephaly, microcephaly, bilateral congenital cataract syndrome disorder

724064004Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome disorder

733088002Preaxial polydactyly, colobomata, intellectual disability syndrome disorder

764733009Progressive external ophthalmoplegia, myopathy, emaciation syndrome disorder

1172900005Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome disorder

733086003Pseudoprogeria syndrome disorder

1187043002Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome disorder

771263004Ptosis and vocal cord paralysis syndrome disorder

726619004Ptosis, strabismus, ectopic pupil syndrome disorder

724016008Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome disorder

772225005RAB18 deficiency disorder

724002003Rambaud Gallian syndrome disorder

773771008Rare isolated myopia disorder

446449009Renal coloboma syndrome disorder

236531005Renal dysplasia and retinal aplasia disorder

764452004Retinal arterial macroaneurysm with supravalvular pulmonic stenosis disorder

723503006Retinal degeneration, nanophthalmos, glaucoma syndrome disorder

703542000Retinal detachment and occipital encephalocoele disorder

783787000Retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations disorder

723512008Revesz syndrome disorder

47507006Rieger syndrome disorder

723499000Ring dermoid of cornea disorder

698851003SOX2 anophthalmia syndrome disorder

723581006STAR syndrome disorder

254092004Saldino-Mainzer dysplasia disorder

700062000Schöpf-Schulz-Passarge syndrome disorder

715464002Seemanova Lesny syndrome disorder

717266001Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome disorder

1172629005Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome disorder

1187212004Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome disorder

1197591008Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome disorder

1217372003Severe myopia, generalised joint laxity, short stature syndrome disorder

1208341008Severe oculo-renal-cerebellar syndrome disorder

721075001Short tarsus with absence of lower eyelashes syndrome disorder

721076000Siegler Brewer Carey syndrome disorder

763669001Spastic ataxia with congenital miosis disorder

1360070001Spastic paraparesis, cataracts, speech delay syndrome disorder

733455003Spastic paraplegia, glaucoma, intellectual disability syndrome disorder

1260134001Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome disorder

771238004Spinal atrophy, ophthalmoplegia, pyramidal syndrome disorder

723612001Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome disorder

715653007Spondylo-ocular syndrome disorder

718763005Spondyloepiphyseal dysplasia MacDermot type disorder

718766002Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome disorder

718761007Syndromic microphthalmia type 5 disorder

717337001Syndromic orbital border hypoplasia disorder

719947004Temtamy syndrome disorder

782935003Tremor, nystagmus, duodenal ulcer syndrome disorder

1285322008Triopia disorder

716110002Upper limb defect with eye and ear abnormalities syndrome disorder

719042007Uveal coloboma with cleft lip and palate and intellectual disability syndrome disorder

719824001Vici syndrome disorder

715988005Wellesley Carman French syndrome disorder

763619009White forelock with malformations syndrome disorder

770604006X-linked cerebral, cerebellar, coloboma syndrome disorder

771148008X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome disorder

718718009X-linked cone dysfunction syndrome with myopia disorder

715426004X-linked corneal dermoid disorder

715240000X-linked retinal dysplasia disorder

59252009de Barsey syndrome disorder

Hereditary disorder of the visual system

Parents (2)

Children (260)