Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
White forelock with malformations syndrome |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Burn of eye proper |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Rupture of eyeball due to and after burn injury |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
X-linked cerebral, cerebellar, coloboma syndrome (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Meningococcal eye disease (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neonatal dacryocystitis or conjunctivitis caused by virus (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neonatal dacryocystitis or conjunctivitis caused by Staphylococcus |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neonatal dacryocystitis or conjunctivitis caused by Escherichia coli (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Oculoglandular listeriosis |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Intractable diarrhea with choanal atresia and eye anomaly syndrome |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Duane syndrome with vertical deviation (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tyrosinase-negative oculocutaneous albinism |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits. |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ocular albinism with late-onset sensorineural deafness (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Duane anomaly, myopathy, scoliosis syndrome (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Preaxial polydactyly, colobomata, intellectual disability syndrome |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Minimal pigment oculocutaneous albinism |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Temperature-sensitive oculocutaneous albinism |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Yellow mutant oculocutaneous albinism (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital cataracts, facial dysmorphism and neuropathy |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare, genetic congenital malformation syndrome characterized by bilateral anophthalmia (or less commonly microphthalmia) in association with a variable combination of the following: pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration, and variable cardiovascular defects (congenital heart defects and/or pulmonary artery atresia). Intellectual disability is noted in surviving patients. Other variable malformations affecting different organ systems, as well as facial dysmorphism, may be observed. |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Deaf blind hypopigmentation syndrome Yemenite type |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Tyrosinase-positive oculocutaneous albinism |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Oculocerebrofacial syndrome Kaufman type |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Vici syndrome (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Brown oculocutaneous albinism |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Oculocutaneous albinism |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hermansky-Pudlak syndrome |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Rufous albinism |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pseudoprogeria syndrome |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lowry MacLean syndrome (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
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. |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ocular blastomycosis (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
RAB18 deficiency |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit |
Finding site |
False |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cysticercosis of eye |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hyperaemia of eye |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Fungal infection of eye |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Finding site |
False |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
AGel amyloidosis |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Ocular onchocerciasis (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Diagnostic dye to eye |
Procedure site - Direct (attribute) |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Sticking of eyelids due to discharge from eyes (finding) |
Finding site |
False |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Fluorescein staining of eye (procedure) |
Procedure site - Direct (attribute) |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Rose bengal staining of eye |
Procedure site - Direct (attribute) |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Punctate oculocutaneous albinoidism |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Discharge from eye (finding) |
Finding site |
False |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lissamine green B staining of eye (procedure) |
Procedure site - Direct (attribute) |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Electromyogram examination of eye |
Procedure site - Direct (attribute) |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ocular laceration with prolapse AND/OR exposure of intraocular tissue |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neonatal infection of the eye (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Buphthalmos (finding) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Contact lens submitted as specimen |
Specimen source topography |
False |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tonometry AND/OR tonography procedure |
Procedure site - Direct (attribute) |
False |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Closed blunt force injury to eye (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Muscle eye brain disease with bilateral multicystic leukodystrophy |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
cataracte avec néovascularisation |
Finding site |
False |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Diffuse mesangial sclerosis with ocular abnormalities |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ocular toxocariasis |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Adhesion of pupillary membrane (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Adhesion of pupillary membrane (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lowe syndrome |
Finding site |
False |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Wildervanck syndrome (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Glaucoma caused by contact lens |
Finding site |
False |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Glaucoma due to eye inflammation (disorder) |
Finding site |
False |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Glaucoma due to intraocular neoplasm |
Finding site |
False |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Glaucoma due to retinal detachment |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infection of eye caused by Borrelia (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Normal pressure primary open-angle glaucoma |
Finding site |
False |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ocular late syphilis |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Eye does not move up |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Eye does not move left |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Eye does not move right (finding) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Absence of downward movement of eye (finding) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Positive angle kappa |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Negative angle kappa |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
On examination - positive angle kappa |
Finding site |
False |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
On examination - negative angle kappa |
Finding site |
False |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Choristoma of eye proper (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dermoid cyst of eye proper |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
At least 1 of these in 1 eye: optic nerve or nerve fibre layer suggestive of glaucoma; abnormal visual field consistent with glaucoma; an elevated IOP > 22 mm Hg. |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Assessment using eye tracking technology (procedure) |
Procedure site - Direct (attribute) |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chalcosis of eye |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Overlapping malignant neoplasm of eye and adnexa, primary (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Glaucoma caused by silicone oil |
Finding site |
False |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Heerfordt's syndrome |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Piggyback lens implantation |
Procedure site - Indirect (attribute) |
False |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Normal eye proper (finding) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Glaucoma due to diabetes mellitus |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Malignant melanoma of overlapping sites of eye and adnexa |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Penetrating wound of eyeball with foreign body (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Penetrating wound of eyeball with foreign body (disorder) |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Ocular hypertension due to birth injury |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Glaucoma of childhood |
Finding site |
True |
Eye structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |