363343008: hereditaire aandoening van visueel systeem (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)
\Disease\Disorder of body system\Visual system disorder\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:

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

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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
6584771000146119	hereditaire aandoening van visueel systeem (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6584781000146117	hereditaire aandoening van visueel systeem	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)