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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

495 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of the visual system est un(e) (attribut) affection du système visuel true Inferred relationship Some
Hereditary disorder of the visual system est un(e) (attribut) Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of the visual system localisation d'une constatation (attribut) Structure of visual system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital cataract with deafness and hypogonadism syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Cataract and microcornea syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Oculogastrointestinal muscular dystrophy (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Matthew Wood syndrome est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Severe X-linked intellectual disability Gustavson type (disorder) est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Aplasia cutis congenita with epibulbar dermoid syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
syndrome de lipomes naso-palpébraux-colobome est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
X-linked spastic paraplegia type 2 (disorder) est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
Pigmented paravenous retinochoroidal atrophy (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Revesz syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Pierson syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Ring dermoid of cornea (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Helicoid peripapillary chorioretinal degeneration (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Hypospadias, hypertelorism, coloboma, deafness syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
syndrome d'ataxie cérébelleuse, déficience intellectuelle, atrophie optique, anomalies cutanées est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
Isolated optic nerve hypoplasia (disorder) est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
syndrome de ptosis-strabisme-pupilles ectopiques est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Congenital cataract ichthyosis syndrome est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Hemifacial hyperplasia strabismus syndrome est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Duplication of eyebrow and syndactyly syndrome est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Spastic paraplegia, glaucoma, intellectual disability syndrome est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Pseudoprogeria syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Polydactyly myopia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Aniridia, renal agenesis, psychomotor retardation syndrome est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Megalocornea with intellectual disability syndrome est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Isolated congenital megalocornea (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Disorder of eye co-occurrent and due to Marfan syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
syndrome rein-colobome est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
syndrome de mèches blanches et anomalies multiples est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Spastic ataxia with congenital miosis est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Intellectual disability, alacrima, achalasia syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
syndrome oculo-auriculaire type Schorderet est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Oculopharyngodistal myopathy (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Familial isolated trichomegaly est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Progressive external ophthalmoplegia, myopathy, emaciation syndrome est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Moebius syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
fundus pulverulentus est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Congenital Horner syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
dysplasie pilo-dentaire est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Polymicrogyria with optic nerve hypoplasia est un(e) (attribut) False Hereditary disorder of the visual system Inferred relationship Some
Ptosis and vocal cord paralysis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some
Spinal atrophy, ophthalmoplegia, pyramidal syndrome est un(e) (attribut) True Hereditary disorder of the visual system Inferred relationship Some

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