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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
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

514 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 (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 The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Oguchi's disease Is a False Hereditary disorder of the visual system Inferred relationship Some
syndrome de Sjögren primaire avec atteinte organique ou systémique Is a False Hereditary disorder of the visual system Inferred relationship Some
syndrome de Sjögren primaire avec atteinte multisystémique Is a False Hereditary disorder of the visual system Inferred relationship Some
syndrome de Sjögren secondaire avec atteinte organique ou systémique Is a False Hereditary disorder of the visual system Inferred relationship Some
syndrome de Sjögren secondaire avec atteinte multisystémique Is a False Hereditary disorder of the visual system Inferred relationship Some
Atrophia bulborum hereditaria Is a True Hereditary disorder of the visual system Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a True Hereditary disorder of the visual system Inferred relationship Some
Cross syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
Hereditary optic atrophy Is a False Hereditary disorder of the visual system Inferred relationship Some
Ocular albinism Is a False Hereditary disorder of the visual system Inferred relationship Some
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Is a False Hereditary disorder of the visual system Inferred relationship Some
Achromatopsia Is a False Hereditary disorder of the visual system Inferred relationship Some
xanthélasma Is a False Hereditary disorder of the visual system Inferred relationship Some
Autosomal dominant cystoid macular edema Is a True Hereditary disorder of the visual system Inferred relationship Some
Albinism Is a False Hereditary disorder of the visual system Inferred relationship Some
Kearns-Sayre syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
Osteogenesis imperfecta with blue sclerae Is a False Hereditary disorder of the visual system Inferred relationship Some
Gyrate atrophy of the choroid AND/OR retina (disorder) Is a False Hereditary disorder of the visual system Inferred relationship Some
Hereditary retinal dystrophy Is a True Hereditary disorder of the visual system Inferred relationship Some
Gouty iritis Is a False Hereditary disorder of the visual system Inferred relationship Some
Alstrom syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
Hereditary choroidal dystrophy Is a True Hereditary disorder of the visual system Inferred relationship Some
Oculopharyngeal muscular dystrophy (disorder) Is a True Hereditary disorder of the visual system Inferred relationship Some
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Is a True Hereditary disorder of the visual system Inferred relationship Some
Osteogenesis imperfecta with blue sclerae AND normal teeth Is a True Hereditary disorder of the visual system Inferred relationship Some
Hereditary corneal dystrophy Is a True Hereditary disorder of the visual system Inferred relationship Some
Ocular albinism Is a True Hereditary disorder of the visual system Inferred relationship Some
albinoïdisme Is a False Hereditary disorder of the visual system Inferred relationship Some
Oculocutaneous albinism Is a True Hereditary disorder of the visual system Inferred relationship Some
Lenz microphthalmia syndrome (disorder) Is a True Hereditary disorder of the visual system Inferred relationship Some
Nance-Horan syndrome (disorder) Is a True Hereditary disorder of the visual system Inferred relationship Some
Peters plus syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
SOX2 anophthalmia syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type Is a True Hereditary disorder of the visual system Inferred relationship Some
Duane-radial ray syndrome (disorder) Is a False Hereditary disorder of the visual system Inferred relationship Some
11p partial monosomy syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
Aicardi's syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Horizontal gaze palsy with progressive scoliosis Is a True Hereditary disorder of the visual system Inferred relationship Some
Hyperferritinemia cataract syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
Congenital cataracts, facial dysmorphism and neuropathy Is a True Hereditary disorder of the visual system Inferred relationship Some
Albinotic fundus Is a True Hereditary disorder of the visual system Inferred relationship Some
Ophthalmo-acromelic syndrome (disorder) Is a True Hereditary disorder of the visual system Inferred relationship Some
A rare systemic disorder characterised by vitreoretinal and macular degeneration, as well as occipital encephalocele. Is a True Hereditary disorder of the visual system Inferred relationship Some
Congenital blue dot cataract Is a True Hereditary disorder of the visual system Inferred relationship Some
Congenital sutural cataract Is a True Hereditary disorder of the visual system Inferred relationship Some
Bradyopsia (disorder) Is a True Hereditary disorder of the visual system Inferred relationship Some
Cerebroretinal microangiopathy with calcifications and cysts Is a True Hereditary disorder of the visual system Inferred relationship Some
Cryptophthalmos syndrome Is a True Hereditary disorder of the visual system Inferred relationship Some
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 Inferred relationship Some
X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. Is a True Hereditary disorder of the visual system Inferred relationship Some
Cochleosaccular degeneration-cataract syndrome is characterized by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant. Is a True Hereditary disorder of the visual system Inferred relationship Some
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 Inferred relationship Some
GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992. Is a True Hereditary disorder of the visual system Inferred relationship Some
Spondyloocular syndrome (disorder) Is a True Hereditary disorder of the visual system Inferred relationship Some
A rare genetic eye disease characterized by abnormal proliferation of retinal tissue resulting in the formation of retinal folds, thereby causing gliosis and, clinically, variable degrees of visual impairment. No clinical findings other than those associated with the eyes have been demonstrated. Is a True Hereditary disorder of the visual system Inferred relationship Some
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder) Is a True Hereditary disorder of the visual system Inferred relationship Some
A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia. Is a True Hereditary disorder of the visual system Inferred relationship Some
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 Inferred relationship Some
Microcephaly-microcornea syndrome, Seemanova type is characterized by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait. Is a True Hereditary disorder of the visual system Inferred relationship Some
Oculocerebral dysplasia syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
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 Inferred relationship Some
A rare multiple congenital anomalies syndrome characterized 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 Inferred relationship Some
A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases. Is a True Hereditary disorder of the visual system Inferred relationship Some
A rare genetic disease characterized 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 Inferred relationship Some
A rare form of pterygium, which develops in early adulthood, characterised by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision. Is a True Hereditary disorder of the visual system Inferred relationship Some
Hereditary vitreoretinopathy Is a True Hereditary disorder of the visual system Inferred relationship Some
A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995. Is a True Hereditary disorder of the visual system Inferred relationship Some
Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized 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 localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait. Is a True Hereditary disorder of the visual system Inferred relationship Some
Congenital alacrima is characterized by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth. Is a False Hereditary disorder of the visual system Inferred relationship Some
Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct. Is a True Hereditary disorder of the visual system Inferred relationship Some
A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions. Is a True Hereditary disorder of the visual system Inferred relationship Some
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. Is a True Hereditary disorder of the visual system Inferred relationship Some
Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized 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 Inferred relationship Some
Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with retinal dystrophy. Is a True Hereditary disorder of the visual system Inferred relationship Some
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. Is a True Hereditary disorder of the visual system Inferred relationship Some
Behr syndrome Is a False Hereditary disorder of the visual system Inferred relationship Some
An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. Is a True Hereditary disorder of the visual system Inferred relationship Some
An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. Is a True Hereditary disorder of the visual system Inferred relationship Some
Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment). Is a True Hereditary disorder of the visual system Inferred relationship Some
A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described. Is a True Hereditary disorder of the visual system Inferred relationship Some
X-linked cone dysfunction syndrome with myopia is characterized by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28. Is a True Hereditary disorder of the visual system Inferred relationship Some
Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations. Is a True Hereditary disorder of the visual system Inferred relationship Some
Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. Is a True Hereditary disorder of the visual system Inferred relationship Some
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. Is a True Hereditary disorder of the visual system Inferred relationship Some
Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. Is a True Hereditary disorder of the visual system Inferred relationship Some
A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility. Is a True Hereditary disorder of the visual system Inferred relationship Some
A rare genetic disease characterized 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 Inferred relationship Some
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized 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 Inferred relationship Some
Microcornea with corectopia and macular hypoplasia syndrome (disorder) Is a True Hereditary disorder of the visual system Inferred relationship Some
Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. Is a True Hereditary disorder of the visual system Inferred relationship Some
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 Inferred relationship Some
A very rare congenital genetic neurological disorder characterized 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 Inferred relationship Some
Glaucoma-sleep apnea syndrome is characterized by sleep apnea associated with glaucoma. It has been described in five members of a family (the mother and four of her children). Is a True Hereditary disorder of the visual system Inferred relationship Some
A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter. Is a True Hereditary disorder of the visual system Inferred relationship Some
A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies. Is a False Hereditary disorder of the visual system Inferred relationship Some
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 Inferred relationship Some
A rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral discs, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985. Is a True Hereditary disorder of the visual system Inferred relationship Some
A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975. Is a True Hereditary disorder of the visual system Inferred relationship Some
An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974. Is a True Hereditary disorder of the visual system Inferred relationship Some
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 Inferred relationship Some
A rare disorder characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant. Is a True Hereditary disorder of the visual system Inferred relationship Some

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