Hereditary disorder by system	Visual system disorder
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Hereditary disorder of the visual system (disorder)
	Hereditary disorder of the visual system
	hereditaire aandoening van visueel systeem

Id	363343008
Status	Defined

Finding site

Structure of visual system

ICD-10 complex map reference set

Target
Rule	TRUE
Advice	MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
Correlation	SNOMED CT source code to target map code correlation not specified

Ablepharon macrostomia syndrome

Abruzzo Erickson syndrome

Acrorenoocular syndrome

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

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

Aniridia and absent patella syndrome

Aniridia and intellectual disability syndrome

Aniridia, ptosis, intellectual disability, familial obesity syndrome

Aniridia, renal agenesis, psychomotor retardation syndrome

Anophthalmia plus syndrome

Anterior maxillary protrusion, strabismus, intellectual disability syndrome

Aplasia cutis congenita with epibulbar dermoid syndrome

Aplasia cutis with myopia syndrome

Aplasia of lacrimal and salivary gland

Ataxia with tapetoretinal degeneration syndrome

Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome

Atrophia bulborum hereditaria

Autosomal dominant cystoid macular edema

Autosomal dominant keratitis

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

Autosomal dominant neovascular inflammatory vitreoretinopathy

Autosomal dominant progressive external ophthalmoplegia5

Autosomal dominant pterygium of conjunctiva

Autosomal dominant rhegmatogenous retinal detachment

Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1

Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2

Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome

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

Autosomal recessive chorioretinopathy and microcephaly syndrome

Autosomal recessive dysgenesis of anterior segment of eye

Autosomal recessive progressive external ophthalmoplegia

Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome

Axenfeld anomaly

Blepharophimosis, intellectual disability syndrome, Verloes type

Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome

Blepharoptosis, myopia, ectopia lentis syndrome

Blindness, scoliosis, arachnodactyly syndrome

Brachydactyly, short stature, retinitis pigmentosa syndrome

Bradyopsia

Brittle cornea syndrome

Cardiomyopathy with cataract and hip spine disease syndrome

Cataract and microcornea syndrome

Cataract glaucoma syndrome

Cataract, congenital heart disease, neural tube defect syndrome

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

Cerebellar ataxia with oculomotor apraxia type 4

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

Cerebroretinal microangiopathy with calcifications and cysts

Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

Cochleosaccular degeneration and cataract syndrome

Coloboma of macula with brachydactyly type B syndrome

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

Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome

Colobomatous microphthalmia, rhizomelic dysplasia syndrome

Combined deficiency of sialidase AND beta galactosidase

Congenital blue dot cataract

Congenital cataract ichthyosis syndrome

Congenital cataract with ataxia and deafness syndrome

Congenital cataract with deafness and hypogonadism syndrome

Congenital cataract with hypertrichosis and intellectual disability syndrome

Congenital cataract, hearing loss, severe developmental delay syndrome

Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome

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

Congenital cataracts, facial dysmorphism and neuropathy

Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration

Congenital hereditary facial paralysis with variable hearing loss syndrome

Congenital Horner syndrome

Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome

Congenital sutural cataract

Coralliform cataract

Cortical blindness, intellectual disability, polydactyly syndrome

Crome syndrome

Cryptophthalmos syndrome

Cutis laxa-corneal clouding-oligophrenia syndrome

Dacryocystitis and osteopoikilosis syndrome

Deaf blind hypopigmentation syndrome Yemenite type

Deafness and myopia syndrome

Diffuse mesangial sclerosis with ocular abnormalities

Disorder of eye co-occurrent and due to Marfan syndrome

Distichiasis-lymphedema syndrome

Duane anomaly, myopathy, scoliosis syndrome

Duane retraction syndrome with congenital deafness

Duplication of eyebrow and syndactyly syndrome

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

Ectodermal dysplasia with blindness syndrome

Ectopia lentis et pupillae

Ectopia lentis, chorioretinal dystrophy, myopia syndrome

EDICT syndrome

Encephalopathy due to sulfite oxidase deficiency

Encephalopathy, intracerebral calcification, retinal degeneration syndrome

Epibulbar lipodermoid, preauricular appendage, polythelia syndrome

Epilepsy telangiectasia syndrome

Eye defects, arachnodactyly, cardiopathy syndrome

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

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

Familial congenital nasolacrimal duct obstruction

Familial congenital palsy of trochlear nerve

Familial isolated trichomegaly

Foveal hypoplasia with presenile cataract syndrome

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

Frank-Ter Haar syndrome

Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome

Fundus pulverulentus

GEMSS syndrome

Glaucoma and sleep apnea syndrome

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

GMS syndrome

Granulomatous inflammatory arthritis, dermatitis and uveitis, familial

Harlequin ichthyosis

Heide syndrome

Helicoid peripapillary chorioretinal degeneration

Hemifacial hyperplasia strabismus syndrome

Hereditary choroidal dystrophy7

Hereditary corneal dystrophy27

Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome

Hereditary retinal dystrophy41

Hereditary vitreoretinopathy3

Horizontal gaze palsy with progressive scoliosis

Hyperferritinemia cataract syndrome

Hypergonadotropic hypogonadism with cataract syndrome

Hypoplasia and coloboma of alar cartilage with telecanthus syndrome

Hypotrichosis with juvenile macular degeneration syndrome

Ichthyosis, short stature, brachydactyly, microspherophakia syndrome

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

Inherited optic neuropathy25

Intellectual disability with cataract and kyphosis syndrome

Intellectual disability with strabismus syndrome

Intellectual disability, cataract, calcified pinna, myopathy syndrome

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

Isolated congenital megalocornea

Isolated cryptophthalmos

Joubert syndrome with ocular defect

Joubert syndrome with oculorenal defect

Juvenile cataract, microcornea, renal glucosuria syndrome

Karandikar Maria Kamble syndrome

Karsch Neugebauer syndrome

LAMA5-related multisystemic syndrome

Lenz microphthalmia syndrome

Lowe syndrome

Lowry MacLean syndrome

Macrosomia, microphthalmia, cleft palate syndrome

Macrostomia, preauricular tag, external ophthalmoplegia syndrome

Macular coloboma, cleft palate, hallux valgus syndrome

Marinesco-Sjögren syndrome

Matthew Wood syndrome

Megalocornea with intellectual disability syndrome

Megalocornea, spherophakia, secondary glaucoma syndrome

Microbrachycephaly, ptosis, cleft lip syndrome

Microcephaly, congenital cataract, psoriasiform dermatitis syndrome

Microcornea with corectopia and macular hypoplasia syndrome

Microcornea with glaucoma and absent frontal sinus syndrome

Microcornea, myopic chorioretinal atrophy, telecanthus syndrome

Microphthalmia with ankyloblepharon and intellectual disability syndrome

Microphthalmia with brain and digit anomaly

Microphthalmia with brain atrophy syndrome

Microphthalmia with linear skin defect syndrome

Microspherophakia with metaphyseal dysplasia syndrome

Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome

Mitochondrial neurogastrointestinal encephalomyopathy syndrome

Moebius syndrome

MOMO syndrome

Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus

Multisystemic smooth muscle dysfunction syndrome

Muscle eye brain disease with bilateral multicystic leukodystrophy

Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus

Nance-Horan syndrome

Nasopalpebral lipoma coloboma syndrome

Nathalie syndrome

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

Ocular albinism5

Ocular motor apraxia Cogan type

Oculoauricular syndrome Schorderet type

Oculocerebrofacial syndrome Kaufman type

Oculocutaneous albinism10

Oculogastrointestinal muscular dystrophy

Oculopharyngeal muscular dystrophy

Oculopharyngodistal myopathy

Ohdo syndrome, Maat-Kievit-Brunner type

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

Oliver McFarlane syndrome

Ophthalmo-acromelic syndrome

Oro-facial digital syndrome type 9

Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta

Osteogenesis imperfecta with blue sclerae AND normal teeth

Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts

Osteoporosis and oculocutaneous hypopigmentation syndrome

Peters plus syndrome

Pierson syndrome

Pigmented paravenous retinochoroidal atrophy

Pilodental dysplasia, refractive errors syndrome

Polydactyly myopia syndrome

Porencephaly, microcephaly, bilateral congenital cataract syndrome

Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome

Preaxial polydactyly, colobomata, intellectual disability syndrome

Progressive external ophthalmoplegia, myopathy, emaciation syndrome

Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome

Pseudoprogeria syndrome

Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome

Ptosis and vocal cord paralysis syndrome

Ptosis, strabismus, ectopic pupil syndrome

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

RAB18 deficiency2

Rambaud Gallian syndrome

Rare isolated myopia

Renal coloboma syndrome

Renal dysplasia and retinal aplasia

Retinal arterial macroaneurysm with supravalvular pulmonic stenosis

Retinal degeneration, nanophthalmos, glaucoma syndrome

Retinal detachment and occipital encephalocele

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

Revesz syndrome

Rieger syndrome

Ring dermoid of cornea

Saldino-Mainzer dysplasia

Seemanova Lesny syndrome

Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome

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

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

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

Severe myopia, generalized joint laxity, short stature syndrome

Severe oculo-renal-cerebellar syndrome

Short tarsus with absence of lower eyelashes syndrome

Siegler Brewer Carey syndrome

SOX2 anophthalmia syndrome

Spastic ataxia with congenital miosis

Spastic paraplegia, glaucoma, intellectual disability syndrome

Spinal atrophy, ophthalmoplegia, pyramidal syndrome

Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome

Spondylo-ocular syndrome

Spondyloepiphyseal dysplasia MacDermot type

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

STAR syndrome

Syndromic microphthalmia type 5

Syndromic orbital border hypoplasia

Temtamy syndrome

Tremor, nystagmus, duodenal ulcer syndrome

Upper limb defect with eye and ear abnormalities syndrome

Uveal coloboma with cleft lip and palate and intellectual disability syndrome

Vici syndrome

Wellesley Carman French syndrome

White forelock with malformations syndrome

X-linked cerebral, cerebellar, coloboma syndrome

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

X-linked cone dysfunction syndrome with myopia

X-linked corneal dermoid

X-linked retinal dysplasia