Hereditary disorder of the visual system   363343008

SNOMED CT code


SNOMED code363343008
nameHereditary disorder of the visual system
statusactive
date introduced2002-01-31
fully specified name(s)Hereditary disorder of the visual system (disorder)
synonymsHereditary disorder of the visual system
attributes - group1
Finding siteVisual structure   49549006
parents
children
  • Ablepharon macrostomia syndrome   718575002
  • Abruzzo Erickson syndrome   718574003
  • Acrorenoocular syndrome   720415006
  • Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy   725464001
  • Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome   722282008
  • Aicardi's syndrome   80651009
  • Alacrima   253215004
  • Albinotic fundus   55819001
  • Aniridia and absent patella syndrome   720467005
  • Aniridia and intellectual disability syndrome   720468000
  • Aniridia, ptosis, intellectual disability, familial obesity syndrome   720987001
  • Aniridia, renal agenesis, psychomotor retardation syndrome   733116005
  • Anophthalmia plus syndrome   720496006
  • Anterior maxillary protrusion, strabismus, intellectual disability syndrome   1222706005
  • Aplasia cutis congenita with epibulbar dermoid syndrome   723554006
  • Aplasia cutis with myopia syndrome   720499004
  • Aplasia of lacrimal and salivary gland   715656004
  • Ataxia with tapetoretinal degeneration syndrome   783203003
  • Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome   763066009
  • Atrophia bulborum hereditaria   15228007
  • Autosomal dominant cystoid macular edema   312921000
  • Autosomal dominant keratitis   715339004
  • Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome   1229999001
  • Autosomal dominant neovascular inflammatory vitreoretinopathy   770791000
  • Autosomal dominant progressive external ophthalmoplegia   827115000
  • Autosomal dominant pterygium of conjunctiva   716197003
  • Autosomal dominant rhegmatogenous retinal detachment   773727009
  • Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1   715366004
  • Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2   725408001
  • Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome   766814006
  • Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency   770898002
  • Autosomal recessive chorioretinopathy and microcephaly syndrome   770404004
  • Autosomal recessive dysgenesis of anterior segment of eye   1197358003
  • Autosomal recessive progressive external ophthalmoplegia   827117008
  • Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome   1204415006
  • Axenfeld anomaly   204152008
  • Behr syndrome   718221007  removed: 2019-07-31
  • Best vitelliform macular dystrophy   763387005
  • Blepharophimosis, intellectual disability syndrome, Verloes type   778009001
  • Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome   717914000
  • Blepharoptosis, myopia, ectopia lentis syndrome   717915004
  • Blindness, scoliosis, arachnodactyly syndrome   717920004
  • Brachydactyly, short stature, retinitis pigmentosa syndrome   782914000
  • Bradyopsia   711163009
  • Brittle cornea syndrome   719096006
  • Cardiomyopathy with cataract and hip spine disease syndrome   720609003
  • Cataract and microcornea syndrome   722382006
  • Cataract glaucoma syndrome   718851007
  • Cataract, congenital heart disease, neural tube defect syndrome   726704006
  • Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome   1220595008
  • Cerebellar ataxia with oculomotor apraxia type 4   1217230002
  • Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome   763344007
  • Cerebroretinal microangiopathy with calcifications and cysts   711482008
  • Childhood-onset autosomal recessive myopathy with external ophthalmoplegia   787172004
  • Cochleosaccular degeneration and cataract syndrome   715528001
  • Coloboma of macula with brachydactyly type B syndrome   717785002
  • Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome   720639008
  • Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome   776204008
  • Colobomatous microphthalmia, rhizomelic dysplasia syndrome   764942005
  • Combined deficiency of sialidase AND beta galactosidase   35691006
  • Congenital blue dot cataract   204138006
  • Congenital cataract ichthyosis syndrome   732952003
  • Congenital cataract microcornea with corneal opacity   1279837000
  • Congenital cataract with ataxia and deafness syndrome   719102004
  • Congenital cataract with deafness and hypogonadism syndrome   722378009
  • Congenital cataract with hypertrichosis and intellectual disability syndrome   722379001
  • Congenital cataract, hearing loss, severe developmental delay syndrome   773648002
  • Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome   717812000
  • Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome   773398005
  • Congenital cataracts, facial dysmorphism and neuropathy   702433001
  • Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration   715436007
  • Congenital hereditary facial paralysis with variable hearing loss syndrome   722389002
  • Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome   715429006
  • Congenital sutural cataract   253226005
  • Coralliform cataract   890350009
  • Cortical blindness, intellectual disability, polydactyly syndrome   732251003
  • Crome syndrome   722381004
  • Cryptophthalmos syndrome   204102004
  • Cutis laxa-corneal clouding-oligophrenia syndrome   59252009
  • Dacryocystitis and osteopoikilosis syndrome   721082002
  • Deaf blind hypopigmentation syndrome Yemenite type   721084001
  • Deafness and myopia syndrome   720506002
  • Diffuse mesangial sclerosis with ocular abnormalities   236528009
  • Disorder of eye co-occurrent and due to Marfan syndrome   15993551000119100
  • Distichiasis-lymphedema syndrome   8634009
  • Duane anomaly, myopathy, scoliosis syndrome   722432000
  • Duane retraction syndrome with congenital deafness   1230014007
  • Duplication of eyebrow and syndactyly syndrome   733070005
  • Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome   773548008
  • Ectodermal dysplasia with blindness syndrome   721208007
  • Ectopia lentis et pupillae   419237004
  • Ectopia lentis, chorioretinal dystrophy, myopia syndrome   722437006
  • EDICT syndrome   722439009
  • Encephalopathy due to sulfite oxidase deficiency   715980003
  • Encephalopathy, intracerebral calcification, retinal degeneration syndrome   733049004
  • Epibulbar lipodermoid, preauricular appendage, polythelia syndrome   1208480004
  • Epilepsy telangiectasia syndrome   733032006
  • Eye defects, arachnodactyly, cardiopathy syndrome   1208342001
  • Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome   770728003
  • Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome   733417008
  • Familial congenital nasolacrimal duct obstruction   1230016009
  • Familial congenital palsy of trochlear nerve   782679002
  • Familial isolated trichomegaly   764523004
  • Fish-eye disease   238092004
  • Foveal hypoplasia with presenile cataract syndrome   778042000
  • Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome   782754006
  • Frank-Ter Haar syndrome   720958002
  • Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome   773628009
  • Fundus pulverulentus   770437002
  • GEMSS syndrome   722450007
  • Glaucoma and sleep apnea syndrome   719976001
  • Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome   1172696009
  • GMS syndrome   716024001
  • Granulomatous inflammatory arthritis, dermatitis and uveitis, familial   699861000
  • Harlequin ichthyosis   205548006
  • Heide syndrome   716189005
  • Helicoid peripapillary chorioretinal degeneration   724384008
  • Hemifacial hyperplasia strabismus syndrome   733046006
  • Hereditary choroidal dystrophy   74469006
  • Hereditary corneal dystrophy   77797009
  • Hereditary endotheliopathy, retinopathy, nephropathy, stroke syndrome   721142006  removed: 2019-07-31
  • Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome   724349009
  • Hereditary retinal dystrophy   41799005
  • Hereditary vascular retinopathy   721141004  removed: 2019-07-31
  • Hereditary vitreoretinopathy   232062002
  • Horizontal gaze palsy with progressive scoliosis   702381007
  • Hyperferritinemia cataract syndrome   702398007
  • Hypergonadotropic hypogonadism with cataract syndrome   721233005
  • Hypoplasia and coloboma of alar cartilage with telecanthus syndrome   722284009
  • Hypotrichosis with juvenile macular degeneration syndrome   723364003
  • Ichthyosis, short stature, brachydactyly, microspherophakia syndrome   783551005
  • Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome   1217371005
  • Inherited optic neuropathy   312942003
  • Intellectual disability with strabismus syndrome   773405004
  • Intellectual disability, cataract, calcified pinna, myopathy syndrome   726709001
  • Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome   774102003
  • Isolated congenital megalocornea   734026006
  • Isolated cryptophthalmos   718691008
  • Joubert syndrome with ocular defect   716998009
  • Joubert syndrome with oculorenal defect   721862000
  • Juvenile cataract, microcornea, renal glucosuria syndrome   722457005
  • Karandikar Maria Kamble syndrome   715989002
  • Karsch Neugebauer syndrome   722032005
  • LAMA5-related multisystemic syndrome   1217370006
  • Lenz microphthalmia syndrome   438504004
  • Lowe syndrome   79385002
  • Lowry MacLean syndrome   721974000
  • Macrosomia, microphthalmia, cleft palate syndrome   773282001
  • Macrostomia, preauricular tag, external ophthalmoplegia syndrome   723366001
  • Macular coloboma, cleft palate, hallux valgus syndrome   722463001
  • Marinesco-Sjögren syndrome   80734006
  • Matthew Wood syndrome   722458000
  • Megalocornea with intellectual disability syndrome   733522005
  • Megalocornea, spherophakia, secondary glaucoma syndrome   783246000
  • Microbrachycephaly, ptosis, cleft lip syndrome   723403008
  • Microcephaly, congenital cataract, psoriasiform dermatitis syndrome   1172683008
  • Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome   1279889005
  • Microcornea with corectopia and macular hypoplasia syndrome   716165003
  • Microcornea with glaucoma and absent frontal sinus syndrome   716166002
  • Microcornea, myopic chorioretinal atrophy, telecanthus syndrome   774212003
  • Microphthalmia with ankyloblepharon and intellectual disability syndrome   717222003
  • Microphthalmia with brain and digit anomaly   721878003
  • Microphthalmia with brain atrophy syndrome   720010009
  • Microphthalmia with linear skin defect syndrome   721879006
  • Microspherophakia with metaphyseal dysplasia syndrome   724140002
  • Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome   724139004
  • Mitochondrial neurogastrointestinal encephalomyopathy syndrome   718214007
  • Moebius syndrome   766987006
  • MOMO syndrome   724137002
  • Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus   723408004
  • Multisystemic smooth muscle dysfunction syndrome   782724001
  • Muscle eye brain disease with bilateral multicystic leukodystrophy   785298001
  • Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus   237611007
  • Nance-Horan syndrome   445257004
  • Nasopalpebral lipoma coloboma syndrome   723411003
  • Nathalie syndrome   716170005
  • Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome   1217381009
  • NKX6-2-related autosomal recessive hypomyelinating leukodystrophy   1217379007
  • Ocular albinism   26399002
  • Ocular motor apraxia Cogan type   405809000
  • Oculoauricular syndrome Schorderet type   763815000
  • Oculocerebrodental syndrome   1255268002
  • Oculocerebrofacial syndrome Kaufman type   722056009
  • Oculocutaneous albinism   63844009
  • Oculogastrointestinal muscular dystrophy   722060007
  • Oculopharyngeal muscular dystrophy   77097004
  • Oculopharyngodistal myopathy   763829004
  • Ohdo syndrome, Maat-Kievit-Brunner type   699297004
  • Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant   699298009
  • Oliver McFarlane syndrome   719944006
  • Ophthalmo-acromelic syndrome   703403003
  • Oro-facial digital syndrome type 9   718680001
  • Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta   63890001
  • Osteogenesis imperfecta with blue sclerae AND normal teeth   64404003
  • Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts   15552004
  • Osteoporosis and oculocutaneous hypopigmentation syndrome   722113001
  • Peters plus syndrome   449817000
  • Pierson syndrome   723449004
  • Pigmented paravenous retinochoroidal atrophy   723450004
  • Pilodental dysplasia, refractive errors syndrome   771240009
  • Polydactyly myopia syndrome   733087007
  • Porencephaly, microcephaly, bilateral congenital cataract syndrome   773627004
  • Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome   724064004
  • Preaxial polydactyly, colobomata, intellectual disability syndrome   733088002
  • Primary Sjögren's syndrome with organ/system involvement   239913004  removed: 2020-01-31
  • Progressive external ophthalmoplegia, myopathy, emaciation syndrome   764733009
  • Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome   1172900005
  • Pseudoprogeria syndrome   733086003
  • Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome   1187043002
  • Ptosis and vocal cord paralysis syndrome   771263004
  • Ptosis, strabismus, ectopic pupil syndrome   726619004
  • Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome   724016008
  • RAB18 deficiency   772225005
  • Rambaud Gallian syndrome   724002003
  • Rare isolated myopia   773771008
  • Renal coloboma syndrome   446449009
  • Renal dysplasia and retinal aplasia   236531005
  • Retinal arterial macroaneurysm with supravalvular pulmonic stenosis   764452004
  • Retinal degeneration, nanophthalmos, glaucoma syndrome   723503006
  • Retinal detachment and occipital encephalocele   703542000
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations   783787000
  • Revesz syndrome   723512008
  • Rieger syndrome   47507006
  • Ring dermoid of cornea   723499000
  • Saldino-Mainzer dysplasia   254092004
  • Secondary Sjögren's syndrome with organ/system involvement   239916007  removed: 2020-01-31
  • Seemanova Lesny syndrome   715464002
  • Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome   717266001
  • Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome   1172629005
  • Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome   1187212004
  • Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome   1197591008
  • Severe myopia, generalized joint laxity, short stature syndrome   1217372003
  • Severe oculo-renal-cerebellar syndrome   1208341008
  • Short tarsus with absence of lower eyelashes syndrome   721075001
  • Siegler Brewer Carey syndrome   721076000
  • SOX2 anophthalmia syndrome   698851003
  • Spastic ataxia with congenital miosis   763669001
  • Spastic paraplegia, glaucoma, intellectual disability syndrome   733455003
  • Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome   1260134001
  • Spinal atrophy, ophthalmoplegia, pyramidal syndrome   771238004
  • Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome   723612001
  • Spondylo-ocular syndrome   715653007
  • Spondyloepiphyseal dysplasia MacDermot type   718763005
  • Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome   718766002
  • STAR syndrome   723581006
  • Syndromic microphthalmia type 5   718761007
  • Syndromic orbital border hypoplasia   717337001
  • Temtamy syndrome   719947004
  • Tremor, nystagmus, duodenal ulcer syndrome   782935003
  • Triopia   1285322008
  • Upper limb defect with eye and ear abnormalities syndrome   716110002
  • Uveal coloboma with cleft lip and palate and intellectual disability syndrome   719042007
  • Vici syndrome   719824001
  • Wellesley Carman French syndrome   715988005
  • White forelock with malformations syndrome   763619009
  • X-linked cerebral, cerebellar, coloboma syndrome   770604006
  • X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome   771148008
  • X-linked cone dysfunction syndrome with myopia   718718009
  • X-linked corneal dermoid   715426004
  • X-linked retinal dysplasia   715240000
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Hereditary disorder of the visual system   363343008

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