aandoening van visueel systeem
Hereditary disorder by system
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Hereditary disorder of the visual system (disorder)
Hereditary disorder of the visual system
Id363343008
StatusDefined
Finding sitestructuur van visueel systeem
ICD-10 complex map reference set
Target
RuleTRUE
AdviceMAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
CorrelationSNOMED CT source code to target map code correlation not specified
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Ablepharon macrostomia syndrome
Abruzzo Erickson syndrome
Acro-oto-ocular syndrome
Acrorenoocular syndrome
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
Aicardi-syndroom
Alacrima2
albinofundus
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
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 neovascular inflammatory vitreoretinopathy
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 spastic ataxia, optic atrophy, dysarthria syndrome
Blepharophimosis, intellectual disability syndrome, Verloes type
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
blepharophimosis-mentale retardatie syndroom type 4
Blepharoptosis, myopia, ectopia lentis syndrome
Blindness, scoliosis, arachnodactyly syndrome
Brachydactyly, short stature, retinitis pigmentosa syndrome
Bradyopsia
Brittle cornea syndrome
CAMOS syndrome
Cardiomyopathy with cataract and hip spine disease syndrome
Cataract and microcornea syndrome
Cataract glaucoma syndrome
Cataract, congenital heart disease, neural tube defect syndrome
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
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 immunodeficiency with faciooculoskeletal anomalies syndrome
congenitaal cataract met faciale dysmorfie en neuropathie
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 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
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
Cortical blindness, intellectual disability, polydactyly syndrome
Crome syndrome
Dacryocystitis and osteopoikilosis syndrome
Deaf blind hypopigmentation syndrome Yemenite type
Deafness and myopia syndrome
Disorder of eye co-occurrent and due to Marfan syndrome
Duane anomaly, myopathy, scoliosis syndrome
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
Epilepsy telangiectasia syndrome
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome
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
GAPO syndrome
GEMSS syndrome
geïsoleerde congenitale megalocornea
Glaucoma and sleep apnea syndrome
GMS syndrome
Harlequin ichthyosis
Heide syndrome
Helicoid peripapillary chorioretinal degeneration
Hemifacial hyperplasia strabismus syndrome
hereditaire corneadystrofie23
hereditaire dystrofie van choroidea7
hereditaire opticusatrofie12
hereditaire retinadystrofie39
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome
Hereditary vitreoretinopathy4
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
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 cryptophthalmos
Isolated optic nerve hypoplasia
Joubert syndrome with ocular defect
Joubert syndrome with oculorenal defect
Juvenile cataract, microcornea, renal glucosuria syndrome
Karandikar Maria Kamble syndrome
Karsch Neugebauer syndrome
Lowry MacLean syndrome
Macrosomia, microphthalmia, cleft palate syndrome
Macrostomia, preauricular tag, external ophthalmoplegia syndrome
Macular coloboma, cleft palate, hallux valgus syndrome
Martsolf syndrome
Matthew Wood syndrome
Megalocornea with intellectual disability syndrome
Megalocornea, spherophakia, secondary glaucoma syndrome
Microbrachycephaly, ptosis, cleft lip syndrome
Microcornea with corectopia and macular hypoplasia syndrome
Microcornea with glaucoma and absent frontal sinus syndrome
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome
microftalmiesyndroom type Lenz
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
Nasopalpebral lipoma coloboma syndrome
Nathalie syndrome
oculair albinisme6
Oculoauricular syndrome Schorderet type
Oculocerebral dysplasia syndrome
Oculocerebrofacial syndrome Kaufman type
oculocutaan albinisme9
oculofaryngeale spierdystrofie
Oculogastrointestinal muscular dystrophy
Oculopharyngodistal myopathy
Oliver McFarlane syndrome
Ophthalmo-acromelic syndrome
Optic nerve edema, splenomegaly syndrome
Oro-facial digital syndrome type 9
Osteoporosis and oculocutaneous hypopigmentation syndrome
Peters plus syndrome
Pierson syndrome
Pigmented paravenous retinochoroidal atrophy
Pilodental dysplasia, refractive errors syndrome
Polydactyly myopia syndrome
Polymicrogyria with optic nerve hypoplasia
Porencephaly, microcephaly, bilateral congenital cataract syndrome
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
Preaxial polydactyly, colobomata, intellectual disability syndrome
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
Progressive external ophthalmoplegia, myopathy, emaciation syndrome
Pseudoprogeria syndrome
Ptosis and vocal cord paralysis syndrome
Ptosis, strabismus, ectopic pupil syndrome
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome
RAB18 deficiency1
Rambaud Gallian syndrome
Rare isolated myopia
Renal coloboma syndrome
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
Ring dermoid of cornea
Seemanova Lesny syndrome
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
Severe X-linked intellectual disability Gustavson type
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
syndroom van Alström
syndroom van Fraser
syndroom van Nance-Horan
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
WAGR-syndroom2
Wellesley Carman French syndrome
White forelock with malformations syndrome
X-gebonden corneale dermoïdcyste
X-gebonden kegeldisfunctiesyndroom met myopie
X-gebonden retinale dysplasie
X-gebonden spastische paraplegie type 2
X-linked cerebral, cerebellar, coloboma syndrome
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome