363343008: hereditaire aandoening van visueel systeem (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary disorder of the visual system (disorder)	Is a	Visual system disorder	true	Inferred relationship	Some
Hereditary disorder of the visual system (disorder)	Is a	Hereditary disorder by system	true	Inferred relationship	Some
Hereditary disorder of the visual system (disorder)	Finding site	Structure of visual system (body structure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Familial isolated trichomegaly	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Progressive external ophthalmoplegia, myopathy, emaciation syndrome	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Moebius syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome	Is a	False	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Fundus pulverulentus (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)	Is a	False	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Congenital Horner syndrome (disorder)	Is a	False	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Pilodental dysplasia, refractive errors syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Polymicrogyria with optic nerve hypoplasia	Is a	False	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Ptosis and vocal cord paralysis syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Spinal atrophy, ophthalmoplegia, pyramidal syndrome	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Optic nerve edema, splenomegaly syndrome (disorder)	Is a	False	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
RAB18, member RAS oncogene family deficiency (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Macrosomia, microphthalmia, cleft palate syndrome	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Intellectual disability with strabismus syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Autosomal dominant rhegmatogenous retinal detachment (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Rare isolated myopia	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Congenital cataract, hearing loss, severe developmental delay syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Foveal hypoplasia with presenile cataract syndrome	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Ectopia lentis et pupillae (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Multisystemic smooth muscle dysfunction syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Tremor, nystagmus, duodenal ulcer syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Harlequin ichthyosis	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Ataxia with tapetoretinal degeneration syndrome	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Alacrima	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome	Is a	False	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Muscle eye brain disease with bilateral multicystic leukodystrophy	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Axenfeld anomaly	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Saldino-Mainzer dysplasia	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Inherited optic neuropathy	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Meretoja syndrome	Is a	False	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Lowe syndrome	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Marinesco-Sjögren syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Distichiasis-lymphedema syndrome	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Autosomal dominant progressive external ophthalmoplegia (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Autosomal recessive progressive external ophthalmoplegia	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Diffuse mesangial sclerosis with ocular abnormalities	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Renal dysplasia and retinal aplasia	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Coralliform cataract (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
de Barsey syndrome	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Combined deficiency of sialidase AND beta galactosidase	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Rieger syndrome	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Autosomal recessive dysgenesis of anterior segment of eye	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Familial congenital palsy of trochlear nerve (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Severe oculo-renal-cerebellar syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Eye defects, arachnodactyly, cardiopathy syndrome	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Cerebellar ataxia with oculomotor apraxia type 4 (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
LAMA5-related multisystemic syndrome	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Severe myopia, generalized joint laxity, short stature syndrome	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Ocular motor apraxia Cogan type (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Duane retraction syndrome with congenital deafness	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Familial congenital nasolacrimal duct obstruction (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Oculocerebrodental syndrome	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Best vitelliform macular dystrophy (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Fish-eye disease	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Congenital cataract microcornea with corneal opacity	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Triopia	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)	Is a	True	Hereditary disorder of the visual system (disorder)	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
482488013	Hereditary disorder of the visual system	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
755157012	Hereditary disorder of the visual system (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6584771000146119	hereditaire aandoening van visueel systeem (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6584781000146117	hereditaire aandoening van visueel systeem	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)