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363343008: Hereditary disorder of the visual system (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
482488013 Hereditary disorder of the visual system en Synonym Active Entire term case insensitive SNOMED CT core module
755157012 Hereditary disorder of the visual system (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

497 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of the visual system Is a Visual system disorder true Inferred relationship Existential restriction modifier
Hereditary disorder of the visual system Is a Hereditary disorder by system true Inferred relationship Existential restriction modifier
Hereditary disorder of the visual system Finding site Structure of visual system true Inferred relationship Existential restriction modifier 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 Inferred relationship Existential restriction modifier
Familial isolated trichomegaly Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Colobomatous microphthalmia, rhizomelic dysplasia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Moebius syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Fundus pulverulentus Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Combined immunodeficiency with faciooculoskeletal anomalies syndrome Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Autosomal recessive chorioretinopathy and microcephaly syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
X-linked cerebral, cerebellar, coloboma syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Autosomal dominant neovascular inflammatory vitreoretinopathy Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Congenital Horner syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Pilodental dysplasia, refractive errors syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Polymicrogyria with optic nerve hypoplasia Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Ptosis and vocal cord paralysis syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Spinal atrophy, ophthalmoplegia, pyramidal syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Optic nerve edema, splenomegaly syndrome Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
RAB18, member RAS oncogene family deficiency Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Macrosomia, microphthalmia, cleft palate syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Intellectual disability with strabismus syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Autosomal dominant rhegmatogenous retinal detachment Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Rare isolated myopia Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Porencephaly, microcephaly, bilateral congenital cataract syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Congenital cataract, hearing loss, severe developmental delay syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Blepharophimosis, intellectual disability syndrome, Verloes type Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Foveal hypoplasia with presenile cataract syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Ectopia lentis et pupillae Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Brachydactyly, short stature, retinitis pigmentosa syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Multisystemic smooth muscle dysfunction syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Tremor, nystagmus, duodenal ulcer syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Harlequin ichthyosis Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Ataxia with tapetoretinal degeneration syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Megalocornea, spherophakia, secondary glaucoma syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Alacrima Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Muscle eye brain disease with bilateral multicystic leukodystrophy Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Axenfeld anomaly Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Saldino-Mainzer dysplasia Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Inherited optic neuropathy Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Meretoja syndrome Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Lowe syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Marinesco-Sjögren syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Distichiasis-lymphedema syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Familial granulomatous inflammatory arthritis, dermatitis and uveitis Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Autosomal dominant progressive external ophthalmoplegia Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Autosomal recessive progressive external ophthalmoplegia Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Diffuse mesangial sclerosis with ocular abnormalities Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Renal dysplasia and retinal aplasia Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Coralliform cataract Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Cutis laxa-corneal clouding-oligophrenia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Combined deficiency of sialidase AND beta galactosidase Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Rieger syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Autosomal recessive dysgenesis of anterior segment of eye Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Familial congenital palsy of trochlear nerve Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Severe oculo-renal-cerebellar syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Eye defects, arachnodactyly, cardiopathy syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Cerebellar ataxia with oculomotor apraxia type 4 Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Laminin subunit alpha 5-related multisystemic syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Severe myopia, generalized joint laxity, short stature syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Ocular motor apraxia Cogan type Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Anterior maxillary protrusion, strabismus, intellectual disability syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Duane retraction syndrome with congenital deafness Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Familial congenital nasolacrimal duct obstruction Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Oculocerebrodental syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Best vitelliform macular dystrophy Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier

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