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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
482488013 Hereditary disorder of the visual system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
607021000274116 Hereditäre Erkrankung des visuellen Systems de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6024451000241114 trouble héréditaire de la vision fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6024461000241112 trouble héréditaire du système visuel fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6024471000241116 trouble visuel héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6024451000241114 trouble héréditaire de la vision fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6024461000241112 trouble héréditaire du système visuel fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6024471000241116 trouble visuel héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
607021000274116 Hereditäre Erkrankung des visuellen Systems de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

512 descendants. Search Descendants:

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 Existential restriction modifier (core metadata concept)
Hereditary disorder of the visual system (disorder) Is a Hereditary disorder by system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of the visual system (disorder) Finding site The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Oguchi's disease (disorder) Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de Sjögren primaire avec atteinte organique ou systémique Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de Sjögren primaire avec atteinte multisystémique Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de Sjögren secondaire avec atteinte organique ou systémique Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de Sjögren secondaire avec atteinte multisystémique Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Atrophia bulborum hereditaria Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cross syndrome Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary optic atrophy (disorder) Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ocular albinism Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Achromatopsia Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
xanthélasma Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant cystoid macular edema (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Albinism Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Kearns-Sayre syndrome Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta with blue sclerae Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Gyrate atrophy of the choroid AND/OR retina (disorder) Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary retinal dystrophy (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Gouty iritis (disorder) Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Alstrom syndrome Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary choroidal dystrophy (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Oculopharyngeal muscular dystrophy Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta with blue sclerae AND normal teeth Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary corneal dystrophy Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ocular albinism Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
albinoïdisme Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Oculocutaneous albinism Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lenz microphthalmia syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Nance-Horan syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Peters plus syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
SOX2 anophthalmia syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ohdo syndrome, Maat-Kievit-Brunner type Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Duane-radial ray syndrome Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
11p partial monosomy syndrome Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Aicardi's syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Horizontal gaze palsy with progressive scoliosis Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hyperferritinemia cataract syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataracts, facial dysmorphism and neuropathy Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Albinotic fundus (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ophthalmo-acromelic syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Retinal detachment and occipital encephalocele Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital blue dot cataract (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital sutural cataract (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Bradyopsia Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cerebroretinal microangiopathy with calcifications and cysts Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cryptophthalmos syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic inflammatory corneal disorder characterized by anterior stromal corneal opacification and vascularization of the peripheral cornea with potential central progression and subsequent reduction in visual acuity. Variable features include abnormalities of the iris, such as stromal defects and ectropion uveae, as well as foveal hypoplasia. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked corneal dermoid (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cochleosaccular degeneration and cataract syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
GMS syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spondylo-ocular syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked retinal dysplasia (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus microcornea syndrome of Seemanova type (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Oculocerebral dysplasia syndrome Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies syndrome characterised by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Nathalie syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant pterygium of conjunctiva (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary vitreoretinopathy Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterised by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localised to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Isolated congenital alacrima Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic hypoplasia of orbital border (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy due to sulfite oxidase deficiency (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Joubert syndrome with ocular defect Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Behr syndrome Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Abruzzo Erickson syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ablepharon macrostomia syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 9 (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Isolated cryptophthalmos (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked cone dysfunction syndrome with myopia (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cataract glaucoma syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Brittle cornea syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcornea with corectopia and macular hypoplasia syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Vici syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A very rare congenital genetic neurological disorder characterised by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Glaucoma and sleep apnea syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microphthalmia with brain atrophy syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acro-oto-ocular syndrome Is a False Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cardiomyopathy with cataract and hip spine disease syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia and absent patella syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Aniridia and intellectual disability syndrome Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia cutis with myopia syndrome (disorder) Is a True Hereditary disorder of the visual system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

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