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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
Intellectual disability with cataract and kyphosis syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Karsch Neugebauer syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Oculocerebrofacial syndrome Kaufman type Is a True Hereditary disorder of the visual system Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Cataract and microcornea syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Congenital hereditary facial paralysis with variable hearing loss syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Oculogastrointestinal muscular dystrophy Is a True Hereditary disorder of the visual system Inferred relationship Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Matthew Wood syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Ectodermal dysplasia with blindness syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
GAPO syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
Osteoporosis and oculocutaneous hypopigmentation syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Severe X-linked intellectual disability Gustavson type Is a False Hereditary disorder of the visual system Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
EDICT syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Toriello Lacassie Droste syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Multifocal pattern dystrophy simulating fundus flavimaculatus Is a True Hereditary disorder of the visual system Inferred relationship Some
Nasopalpebral lipoma coloboma syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Spastic paraplegia type 2 Is a False Hereditary disorder of the visual system Inferred relationship Some
Pigmented paravenous retinochoroidal atrophy Is a True Hereditary disorder of the visual system Inferred relationship Some
Revesz syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Pierson syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Ring dermoid of cornea Is a True Hereditary disorder of the visual system Inferred relationship Some
Retinal degeneration, nanophthalmos, glaucoma syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Helicoid peripapillary chorioretinal degeneration Is a True Hereditary disorder of the visual system Inferred relationship Some
MOMO syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Hypospadias, hypertelorism, coloboma, deafness syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Is a True Hereditary disorder of the visual system Inferred relationship Some
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 Is a True Hereditary disorder of the visual system Inferred relationship Some
CAMOS syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
Isolated optic nerve hypoplasia Is a False Hereditary disorder of the visual system Inferred relationship Some
Ptosis, strabismus, ectopic pupil syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Cortical blindness, intellectual disability, polydactyly syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Congenital cataract ichthyosis syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Epilepsy telangiectasia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Bencze syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Bonnemann Meinecke Reich syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Eyebrow duplication syndactyly syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Spastic paraplegia, glaucoma, intellectual disability syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Pseudoprogeria syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Polydactyly myopia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Preaxial polydactyly, colobomata, intellectual disability syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Aniridia, renal agenesis, psychomotor retardation syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Megalocornea with intellectual disability syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Isolated congenital megalocornea Is a True Hereditary disorder of the visual system Inferred relationship Some
Disorder of eye co-occurrent and due to Marfan syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Renal coloboma syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
White forelock with malformations syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Spastic ataxia with congenital miosis Is a True Hereditary disorder of the visual system Inferred relationship Some
Intellectual disability, alacrima, achalasia syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
Oculoauricular syndrome Schorderet type Is a True Hereditary disorder of the visual system Inferred relationship Some
Oculopharyngodistal myopathy Is a True Hereditary disorder of the visual system Inferred relationship Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Is a True Hereditary disorder of the visual system Inferred relationship Some
Familial isolated trichomegaly Is a True Hereditary disorder of the visual system Inferred relationship Some
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Colobomatous microphthalmia, rhizomelic dysplasia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Moebius syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
Fundus pulverulentus Is a True Hereditary disorder of the visual system Inferred relationship Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
Autosomal recessive chorioretinopathy and microcephaly syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
X-linked cerebral, cerebellar, coloboma syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Autosomal dominant neovascular inflammatory vitreoretinopathy Is a True Hereditary disorder of the visual system Inferred relationship Some
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Congenital Horner syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency Is a True Hereditary disorder of the visual system Inferred relationship Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Pilodental dysplasia, refractive errors syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Polymicrogyria with optic nerve hypoplasia Is a False Hereditary disorder of the visual system Inferred relationship Some
Ptosis and vocal cord paralysis syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Spinal atrophy, ophthalmoplegia, pyramidal syndrome 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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