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49549006: Structure of visual system (body structure)

Status: current, Not 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
2884597013 The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
495433017 Visual structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1215761010 Visual system structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2638818019 Structure of visual system (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2642836010 Structure of visual system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1716 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Is a Structure of special senses organ system true Inferred relationship Some
The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Is a Structure of sensory nervous system (body structure) false Inferred relationship Some
The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways partie de Entire body as a whole false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Myopic astigmatism Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Mixed astigmatism (disorder) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Oblique astigmatism Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Hyperopic astigmatism Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Anomaly of convergence (disorder) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Child visual perception assessment Procedure site - Direct (attribute) True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Visual disturbance as sequela of cerebrovascular disease (disorder) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 3
Localised visual field defect Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Drug related visual impairment Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Cataract fragments in the eye post cataract surgery (disorder) Finding site False The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
Twitching eye (finding) Finding site False The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some
Sensory nystagmus Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
A severe form of astigmatism. Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Sector and/or arcuate visual field defect Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Low vision right eye, normal vision left eye Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Blind right eye, low vision left eye Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Impairment of visual contrast sensitivity Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Low vision left eye, normal vision right eye Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Blind left eye, low vision right eye Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Blind right eye, normal vision left eye Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Blind left eye, normal vision right eye Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Alternating heterophoria Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Postoperative irregular astigmatism Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
Ophthalmoplegia due to Graves' disease Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
Bilateral visual impairment (disorder) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Bilateral moderate to severe visual impairment (disorder) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Restrictive strabismus due to Graves' disease Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
Eye and vision examination normal Finding site False The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
Problem focused eye examination normal Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
Congenital anomaly of visual system Finding site False The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 3
Congenital blindness Finding site False The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 3
Congenital strabismus Finding site False The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 3
Cortical paralysis of fixation syndrome Finding site False The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some
Blindness due to type 1 diabetes mellitus (disorder) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 3
Blindness due to type 2 diabetes mellitus Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
On examination - visual acuity right eye = 6/48 Finding site False The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 3
On examination - visual acuity right eye = 6/7.5 Finding site False The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 3
On examination - visual acuity left eye = 6/7.5 Finding site False The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 3
Able to see (finding) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
On examination - visual acuity left eye = 6/48 Finding site False The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 3
Bagolini striated glasses test (procedure) Procedure site - Direct (attribute) True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
Modified Bagolini striated glasses test (procedure) Procedure site - Direct (attribute) True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
J3 Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
Jaeger type 5 (finding) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
Jaeger type 7 (finding) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
J9 Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
Jaeger type 11 (finding) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
J13 Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
Impairment level: blindness, one eye - low vision other eye Finding site False The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Noncomitant alternating exotropia (disorder) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Noncomitant alternating esotropia (disorder) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Jaeger type 15 (finding) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
Jaeger type 1+ (finding) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
Visual impairment co-occurrent with human immunodeficiency virus infection (disorder) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Jaeger type 16 (finding) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
Spondyloocular syndrome (disorder) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder) Finding site False The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some
A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia. Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
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. Finding site False The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 4
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. Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 3
Able to see using assistive device (finding) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 3
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. Finding site False The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some
This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes. Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations. Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
Structure of left visual system (body structure) Is a True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some
Structure of right visual system (body structure) Is a True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. Finding site False The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 6
Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrition and intestinal pseudo-obstruction. Finding site False The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 3
A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
Perverted nystagmus (disorder) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Isolated peripheral scotoma Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986. Finding site False The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 3
Divergence excess (disorder) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Synergistic divergence (disorder) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. Finding site False The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 8
Updrift of eyes Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
A rare late-onset neurodegenerative disease characterised by ocular motor dysfunction, postural instability, akinesia-rigidity, and cognitive dysfunction. Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
Dissociative neurological symptom disorder with visual symptom (disorder) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Physiological nystagmus Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
Downward gaze deviation Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
A rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease. Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalmologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time. Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
Total visual and total hearing impairment (disorder) Finding site False The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Acquired esotropia (disorder) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Acute esotropia (disorder) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
A rare neuro-ophthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanel and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophthalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, simplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits. Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 3
Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994. Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
Visual snow syndrome is a rare neurologic disease characterized by persistent continuous bilateral visual experience of flickering snow-like dots throughout the visual field in association with other visual (including palinopsia, enhanced entopic phenomena, nyctalopia, photophobia and photopsia) and non-visual (migraine with or without aura, tinnitus and occasionally tremor) symptoms. Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 3
Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985. Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 3
14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression. Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 3
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrition and intestinal pseudo-obstruction. Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986. Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 3
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. Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
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. Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
Visual field defect due to and following cerebrovascular accident (disorder) Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 2
A rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis. Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1
Rare, isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness. Finding site True The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways Inferred relationship Some 1

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