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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
Aplasia cutis with myopia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Cerebroretinal vasculopathy Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Frank-Ter Haar syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Aniridia, ptosis, intellectual disability, familial obesity syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Short tarsus with absence of lower eyelashes syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Dacryocystitis and osteopoikilosis syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Deaf blind hypopigmentation syndrome Yemenite type Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Siegler Brewer Carey syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Coloboma of macula with brachydactyly type B syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Blepharoptosis, myopia, ectopia lentis syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Hereditary vascular retinopathy Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Hereditary endotheliopathy, retinopathy, nephropathy, stroke syndrome Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Microphthalmia with brain and digit anomaly Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Microphthalmia with linear skin defect syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Robinow-like syndrome Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Blindness, scoliosis, arachnodactyly syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Hypergonadotropic hypogonadism with cataract syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Joubert syndrome with oculorenal defect Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Lowry MacLean syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Deafness and myopia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Intellectual disability with cataract and kyphosis syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Karsch Neugebauer syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Oculocerebrofacial syndrome Kaufman type Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Congenital cataract with deafness and hypogonadism syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Congenital cataract with hypertrichosis and intellectual disability syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Congenital cataract, nephropathy, encephalopathy syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Cataract and microcornea syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Congenital hereditary facial paralysis with variable hearing loss syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Oculogastrointestinal muscular dystrophy Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Juvenile cataract, microcornea, renal glucosuria syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Matthew Wood syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Ectodermal dysplasia with blindness syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Osteoporosis and oculocutaneous hypopigmentation syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Severe X-linked intellectual disability Gustavson type Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Duane anomaly, myopathy, scoliosis syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Macular coloboma, cleft palate, hallux valgus syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Hypotrichosis with juvenile macular degeneration syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Macrostomia, preauricular tag, external ophthalmoplegia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Microbrachycephaly, ptosis, cleft lip syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Aplasia cutis congenita with epibulbar dermoid syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Syndactyly, telecanthus, anogenital and renal malformation syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Nasopalpebral lipoma coloboma syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
X-linked spastic paraplegia type 2 Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Pigmented paravenous retinochoroidal atrophy Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Revesz syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Pierson syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Ring dermoid of cornea Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Retinal degeneration, nanophthalmos, glaucoma syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Helicoid peripapillary chorioretinal degeneration Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Macrocephaly, obesity, mental disability, ocular abnormality syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Microspherophakia with metaphyseal dysplasia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Hypospadias, hypertelorism, coloboma, deafness syndrome Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Isolated optic nerve hypoplasia Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Ptosis, strabismus, ectopic pupil syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Cataract, congenital heart disease, neural tube defect syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Intellectual disability, cataract, calcified pinna, myopathy syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Cortical blindness, intellectual disability, polydactyly syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Congenital cataract ichthyosis syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Epilepsy telangiectasia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Hemifacial hyperplasia strabismus syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Encephalopathy, intracerebral calcification, retinal degeneration syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Duplication of eyebrow and syndactyly syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Spastic paraplegia, glaucoma, intellectual disability syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Pseudoprogeria syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Polydactyly myopia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Preaxial polydactyly, colobomata, intellectual disability syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Aniridia, renal agenesis, psychomotor retardation syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Megalocornea with intellectual disability syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Isolated congenital megalocornea Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Disorder of eye co-occurrent and due to Marfan syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Renal coloboma syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
White forelock with malformations syndrome Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Spastic ataxia with congenital miosis Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Intellectual disability, alacrima, achalasia syndrome Is a False Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Oculoauricular syndrome Schorderet type Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Oculopharyngodistal myopathy Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Is a True Hereditary disorder of the visual system Inferred relationship Existential restriction modifier

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