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363343008: Hereditary disorder of the visual system (disorder)

Status: current, Defined. 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 Active Case insensitive SNOMED CT core
755157012 Hereditary disorder of the visual system (disorder) en Fully specified name Active Case insensitive SNOMED CT core

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 Some
Hereditary disorder of the visual system Is a Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of the visual system Finding site Structure of visual system true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Optic nerve oedema, splenomegaly syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
RAB18, member RAS oncogene family deficiency Is a True Hereditary disorder of the visual system Inferred relationship Some
Macrosomia, microphthalmia, cleft palate syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Intellectual disability with strabismus syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Autosomal dominant rhegmatogenous retinal detachment Is a True Hereditary disorder of the visual system Inferred relationship Some
Rare isolated myopia Is a True Hereditary disorder of the visual system Inferred relationship Some
Porencephaly, microcephaly, bilateral congenital cataract syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Congenital cataract, hearing loss, severe developmental delay syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Blepharophimosis, intellectual disability syndrome, Verloes type Is a True Hereditary disorder of the visual system Inferred relationship Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Foveal hypoplasia with presenile cataract syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Ectopia lentis et pupillae Is a True Hereditary disorder of the visual system Inferred relationship Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Brachydactyly, short stature, retinitis pigmentosa syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Tremor, nystagmus, duodenal ulcer syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Harlequin ichthyosis Is a True Hereditary disorder of the visual system Inferred relationship Some
Ataxia with tapetoretinal degeneration syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Megalocornea, spherophakia, secondary glaucoma syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Alacrima Is a True Hereditary disorder of the visual system Inferred relationship Some
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a True Hereditary disorder of the visual system Inferred relationship Some
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
Muscle eye brain disease with bilateral multicystic leukodystrophy Is a True Hereditary disorder of the visual system Inferred relationship Some
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Is a True Hereditary disorder of the visual system Inferred relationship Some
Axenfeld anomaly Is a True Hereditary disorder of the visual system Inferred relationship Some
Saldino-Mainzer dysplasia Is a True Hereditary disorder of the visual system Inferred relationship Some
Inherited optic neuropathy Is a True Hereditary disorder of the visual system Inferred relationship Some
Meretoja syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
Blepharophimosis-intellectual disability syndrome, SBBYS type Is a True Hereditary disorder of the visual system Inferred relationship Some
Lowe syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Marinesco-Sjögren syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Distichiasis-lymphoedema syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis Is a True Hereditary disorder of the visual system Inferred relationship Some
Autosomal dominant progressive external ophthalmoplegia Is a True Hereditary disorder of the visual system Inferred relationship Some
Autosomal recessive progressive external ophthalmoplegia Is a True Hereditary disorder of the visual system Inferred relationship Some
Diffuse mesangial sclerosis with ocular abnormalities Is a True Hereditary disorder of the visual system Inferred relationship Some
Renal dysplasia and retinal aplasia Is a True Hereditary disorder of the visual system Inferred relationship Some
Coralliform cataract Is a True Hereditary disorder of the visual system Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Combined deficiency of sialidase AND beta galactosidase Is a True Hereditary disorder of the visual system Inferred relationship Some
Rieger syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus Is a True Hereditary disorder of the visual system Inferred relationship Some
Autosomal recessive dysgenesis of anterior segment of eye Is a True Hereditary disorder of the visual system Inferred relationship Some
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Familial congenital palsy of trochlear nerve Is a True Hereditary disorder of the visual system Inferred relationship Some
Severe oculo-renal-cerebellar syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Eye defects, arachnodactyly, cardiopathy syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Cerebellar ataxia with oculomotor apraxia type 4 Is a True Hereditary disorder of the visual system Inferred relationship Some
LAMA5-related multisystemic syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Severe myopia, generalised joint laxity, short stature syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
NKX6-2-related autosomal recessive hypomyelinating leucodystrophy Is a True Hereditary disorder of the visual system Inferred relationship Some
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Oculomotor apraxia - Cogan type Is a True Hereditary disorder of the visual system Inferred relationship Some
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Anterior maxillary protrusion, strabismus, intellectual disability syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Duane retraction syndrome with congenital deafness Is a True Hereditary disorder of the visual system Inferred relationship Some
Familial congenital nasolacrimal duct obstruction Is a True Hereditary disorder of the visual system Inferred relationship Some
Oculocerebrodental syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Best vitelliform macular dystrophy Is a True Hereditary disorder of the visual system Inferred relationship Some
Autosomal dominant cystoid macular oedema Is a True Hereditary disorder of the visual system Inferred relationship Some
Albinism Is a False Hereditary disorder of the visual system Inferred relationship Some
Kearns-Sayre syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
Osteogenesis imperfecta with blue sclerae Is a False Hereditary disorder of the visual system Inferred relationship Some
Gyrate atrophy of the choroid and retina Is a False Hereditary disorder of the visual system Inferred relationship Some
Hereditary retinal dystrophy Is a True Hereditary disorder of the visual system Inferred relationship Some
Gouty iritis Is a False Hereditary disorder of the visual system Inferred relationship Some
Alstrom syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
Hereditary choroidal dystrophy Is a True Hereditary disorder of the visual system Inferred relationship Some
Oculopharyngeal muscular dystrophy Is a True Hereditary disorder of the visual system Inferred relationship Some
Atrophia bulborum hereditaria Is a True Hereditary disorder of the visual system Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a True Hereditary disorder of the visual system Inferred relationship Some
Cross syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
Hereditary optic atrophy Is a False Hereditary disorder of the visual system Inferred relationship Some
Ocular albinism Is a False Hereditary disorder of the visual system Inferred relationship Some
Oguchi's disease Is a False Hereditary disorder of the visual system Inferred relationship Some
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Is a False Hereditary disorder of the visual system Inferred relationship Some
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Is a True Hereditary disorder of the visual system Inferred relationship Some
Osteogenesis imperfecta with blue sclerae AND normal teeth Is a True Hereditary disorder of the visual system Inferred relationship Some
Hereditary corneal dystrophy Is a True Hereditary disorder of the visual system Inferred relationship Some
Achromatopsia Is a False Hereditary disorder of the visual system Inferred relationship Some
Xanthoma of eyelid Is a False Hereditary disorder of the visual system Inferred relationship Some
Ocular albinism Is a True Hereditary disorder of the visual system Inferred relationship Some
Albinoidism Is a False Hereditary disorder of the visual system Inferred relationship Some
Oculocutaneous albinism Is a True Hereditary disorder of the visual system Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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