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363343008: 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:

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

500 descendants. Search Descendants:

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 True 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
syndrome de Meretoja 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
Cutis laxa-corneal clouding-oligophrenia 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

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