Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Peripheral visual field defect |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Enlarged blind spot |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Homonymous hemianopia |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Absolute scotoma |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Arcuate scotoma |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Decreased peripheral vision |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Right homonymous hemianopsia |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Scintillating scotoma |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Bjerrum scotoma |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Ring scotoma (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Quadrantic scotoma |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Blind spot scotoma |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Paracaecal scotoma |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Angioscotoma (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Loss of part of visual field |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Seeing blob in vision |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Peripheral scotoma |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Peripheral ring scotoma |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Local peripheral scotoma |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Altitudinal scotoma |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Complete homonymous hemianopia |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Incomplete homonymous hemianopia |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Inattention homonymous hemianopia |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Complete bitemporal hemianopia |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Incomplete bitemporal hemianopia |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Altitudinal hemianopia |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Generalised visual field constriction |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Heteronymous hemianopsia |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Heteronymous bilateral visual field defects |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Glaucomatous visual field defect (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Pericentral scotoma (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Tunnel visual field constriction (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Concentric visual field constriction (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Functional visual field loss (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Arcuate visual field defect of left eye |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Arcuate visual field defect of right eye (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Arcuate visual field defect of bilateral eyes (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Scotoma of right eye |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Scotoma of left eye |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Bilateral scotoma of eyes |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Central scotoma of left eye (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Central scotoma of right eye (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Central scotoma of bilateral eyes (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Sector visual field defect of bilateral eyes (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Sector visual field defect of left eye |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Sector visual field defect of right eye (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Localised visual field defect |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Bilateral homonymous altitudinal hemianopia (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Sector and/or arcuate visual field defect |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Peripheral visual field defect of bilateral eyes (finding) |
Has interpretation |
False |
Impaired |
Inferred relationship |
Some |
4 |
Peripheral visual field defect of left eye (finding) |
Has interpretation |
False |
Impaired |
Inferred relationship |
Some |
3 |
Peripheral visual field defect of right eye (finding) |
Has interpretation |
False |
Impaired |
Inferred relationship |
Some |
3 |
Tunnel vision of bilateral eyes (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Tunnel vision of left eye (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Tunnel vision of right eye (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Visual field defect of left eye (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
Isolated peripheral scotoma |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Binasal heteronymous quadrantanopia (finding) |
Has interpretation |
False |
Impaired |
Inferred relationship |
Some |
3 |
Bitemporal heteronymous quadrantanopia (finding) |
Has interpretation |
False |
Impaired |
Inferred relationship |
Some |
3 |
Visual field defect of right eye (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
Sector visual field defect (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Arcuate visual field defect (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Visual field defect due to and following cerebrovascular accident (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Bilateral visual defect of eyes |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
Visual field constriction |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Paracecal scotoma of left eye |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Paracecal scotoma of right eye (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Bilateral paracecal scotomas |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Paracentral scotoma of right eye |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Bilateral paracentral scotomas |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Paracentral scotoma of left eye (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Homonymous quadrant anopia |
Has interpretation |
False |
Impaired |
Inferred relationship |
Some |
4 |
Left homonymous inferior quadrantanopia |
Has interpretation |
False |
Impaired |
Inferred relationship |
Some |
4 |
Right homonymous superior quadrantanopia (finding) |
Has interpretation |
False |
Impaired |
Inferred relationship |
Some |
4 |
Left homonymous superior quadrantanopia |
Has interpretation |
False |
Impaired |
Inferred relationship |
Some |
4 |
Right homonymous inferior quadrantanopia |
Has interpretation |
False |
Impaired |
Inferred relationship |
Some |
4 |
Quadrantanopia of left eye (finding) |
Has interpretation |
False |
Impaired |
Inferred relationship |
Some |
3 |
Quadrantanopia of right eye (finding) |
Has interpretation |
False |
Impaired |
Inferred relationship |
Some |
3 |
Bilateral visual field constriction |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Constriction of visual field of right eye (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Constriction of visual field of left eye (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
Right centrocecal scotoma |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Left centrocaecal scotoma |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Centrocecal scotoma of bilateral eyes (finding) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability, developmental delay, autistic behavior, short stature, and microcephaly. Additional variable manifestations include feeding problems, vision and hearing impairments, recurrent upper airway infections, and epilepsy. Reported malformations are cryptorchidism and cerebral anomalies. Dysmorphic facial features include short and upslanted palpebral fissures, ptosis, telecanthus, depressed nasal ridge, short nose, anteverted nares, short columella, and long philtrum. |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability, developmental delay, autistic behavior, short stature, and microcephaly. Additional variable manifestations include feeding problems, vision and hearing impairments, recurrent upper airway infections, and epilepsy. Reported malformations are cryptorchidism and cerebral anomalies. Dysmorphic facial features include short and upslanted palpebral fissures, ptosis, telecanthus, depressed nasal ridge, short nose, anteverted nares, short columella, and long philtrum. |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
A rare genetic syndromic intellectual disability characterized by developmental delay, intellectual disability, ataxia, and, more variably, seizures and short stature. Behavioral abnormalities may also be observed, as well as variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate, and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum, or posterior fossa abnormalities. |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
A rare genetic syndromic intellectual disability characterized by developmental delay, intellectual disability, ataxia, and, more variably, seizures and short stature. Behavioral abnormalities may also be observed, as well as variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate, and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum, or posterior fossa abnormalities. |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
A rare mitochondrial oxidative phosphorylation disorder characterized by a spectrum of three main clinical phenotypes comprising a severe neonatal phenotype with early fatal lactic acidosis, a more protracted course with early-onset developmental delay, motor weakness, extrapyramidal signs, with or without epilepsy, and a phenotype with normal early development and Parkinson-like symptoms starting around the age of one year. Additional, variably reported, signs and symptoms include cardiomyopathy, optic anomalies, hepatosplenomegaly, and abnormal brain MRI findings, among others. Deficiencies in mitochondrial oxidative phosphorylation enzymes are inconsistent. |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
A rare mitochondrial oxidative phosphorylation disorder characterized by a spectrum of three main clinical phenotypes comprising a severe neonatal phenotype with early fatal lactic acidosis, a more protracted course with early-onset developmental delay, motor weakness, extrapyramidal signs, with or without epilepsy, and a phenotype with normal early development and Parkinson-like symptoms starting around the age of one year. Additional, variably reported, signs and symptoms include cardiomyopathy, optic anomalies, hepatosplenomegaly, and abnormal brain MRI findings, among others. Deficiencies in mitochondrial oxidative phosphorylation enzymes are inconsistent. |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
Dementia due to variant Creutzfeldt-Jakob disease (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
Dementia due to trypanosomiasis (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
Dementia due to sporadic Creutzfeldt-Jakob disease (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
Dementia due to hypertensive encephalopathy (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure. |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure. |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
4 |
A rare genetic syndromic intellectual disability characterised by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioural abnormalities (with mood instability, aggression, and self-mutilation), and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum, and prominent chin. |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
2 |
A rare genetic syndromic intellectual disability characterised by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioural abnormalities (with mood instability, aggression, and self-mutilation), and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum, and prominent chin. |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
3 |
Dementia due to Wilson disease (disorder) |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
Dementia due to Whipple disease |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |
Dementia due to systemic lupus erythematosus |
Has interpretation |
True |
Impaired |
Inferred relationship |
Some |
1 |