Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Ocular hypertension of left eye due to increased episcleral venous pressure |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
1 |
Ocular hypertension of right eye due to increased episcleral venous pressure (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
1 |
Bilateral ocular hypertension due to increased episcleral venous pressure |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
1 |
Bilateral ocular hypertension due to increased episcleral venous pressure |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
Ocular hypertension of left eye due to intraocular haemorrhage |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
1 |
Ocular hypertension of right eye due to intraocular haemorrhage |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
1 |
Bilateral ocular hypertension due to intraocular hemorrhage |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
1 |
Bilateral ocular hypertension due to intraocular hemorrhage |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
Ocular hypertension of right eye due to neovascularization (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
1 |
Ocular hypertension of left eye due to neovascularization (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
1 |
Ocular hypertension of left eye due to angle recession (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
1 |
Ocular hypertension of right eye due to angle recession |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
1 |
Ocular hypertension of bilateral eyes due to angle recession (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
1 |
Ocular hypertension of bilateral eyes due to angle recession (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
Bilateral ocular hypertension due to neovascularisation |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
1 |
Bilateral ocular hypertension due to neovascularisation |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
4 |
A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by production of monoclonal immunoglobulins with truncated heavy chains and no detectable light chains, which are deposited in tissues and cause organ dysfunction, but do not form amyloid beta-pleated sheets or contain an amyloid P component. The condition frequently occurs in association with multiple myeloma. Patients most commonly present with renal involvement (manifesting as hypertension, progressive renal dysfunction, anemia, and nephrotic syndrome with microhematuria), but other organs (such as the liver or skin) may also be affected. Production of IgG1 or IgG3 isotypes results in hypercomplementemia. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by production of monoclonal immunoglobulins with truncated heavy chains and no detectable light chains, which are deposited in tissues and cause organ dysfunction, but do not form amyloid beta-pleated sheets or contain an amyloid P component. The condition frequently occurs in association with multiple myeloma. Patients most commonly present with renal involvement (manifesting as hypertension, progressive renal dysfunction, anemia, and nephrotic syndrome with microhematuria), but other organs (such as the liver or skin) may also be affected. Production of IgG1 or IgG3 isotypes results in hypercomplementemia. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
4 |
Primary ocular hypertension of right eye |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
1 |
Primary ocular hypertension of left eye (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
1 |
Primary ocular hypertension of bilateral eyes (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
1 |
Primary ocular hypertension of bilateral eyes (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
Ghost cell ocular hypertension of right eye (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
Ghost cell ocular hypertension of left eye |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
Xanthoma due to primary combined hyperlipidemia (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
1 |
Xanthoma due to primary hypertriglyceridaemia |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
1 |
Xanthoma due to primary hypercholesterolemia (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
1 |
Xanthoma due to secondary hyperlipidemia (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
1 |
Xanthoma due to primary chylomicronemia (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
1 |
Bilateral ghost cell ocular hypertension |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
Bilateral ghost cell ocular hypertension |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
4 |
Ocular hypertension of left eye due to hemolysis following intraocular hemorrhage (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
Ocular hypertension of bilateral eyes due to hemolysis following intraocular hemorrhage (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
Ocular hypertension of bilateral eyes due to hemolysis following intraocular hemorrhage (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
Haemolytic ocular hypertension of right eye |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
Ocular hypertension of left eye due to anterior segment anomaly |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
1 |
Ocular hypertension of right eye due to anterior segment anomaly (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
1 |
Bilateral ocular hypertension due to anterior segment anomaly |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
1 |
Bilateral ocular hypertension due to anterior segment anomaly |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
Melorheostosis of left humerus (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
Melorheostosis of right humerus |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
Melorheostosis of humerus (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
Melorheostosis of femur (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
Melorheostosis of left femur (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
Melorheostosis of right femur |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
Melorheostosis of bilateral femurs (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
5 |
Melorheostosis of skull |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, obesity, macrocephaly, behavioral abnormalities (such as aggressive tantrums and autistic-like behavior), and delayed speech development. Dysmorphic facial features include large, square forehead, prominent supraorbital ridges, broad nasal tip, large ears, prominent lower lip, and minor dental anomalies such as small upper lateral incisors and central incisor gap. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
5 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, obesity, macrocephaly, behavioral abnormalities (such as aggressive tantrums and autistic-like behavior), and delayed speech development. Dysmorphic facial features include large, square forehead, prominent supraorbital ridges, broad nasal tip, large ears, prominent lower lip, and minor dental anomalies such as small upper lateral incisors and central incisor gap. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
6 |
Uremic lung |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
A rare neurodevelopmental syndrome characterised by developmental delay, intellectual disability of varying severity and weight disorders (overweight/obesity and eating behaviour disorders including hyperphagia, tachyphagia, food impulsiveness and a feeling of permanent hunger). Additional clinical features include learning difficulties (may be combined with dysphasia, dyspraxia, dyscalculia, dysgraphia), severe language delay, behavioural disorders (stereotypies, impulsiveness or intolerance to frustration, self or hetero aggression, autism spectrum disorder) and non-specific dysmorphism. Epilepsy and ophthalmologic abnormalities can also be observed. Endocrine abnormalities are rarely associated. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
A rare syndromic obesity characterized by early-onset severe obesity, hyperphagia and global developmental delay with specific impairment of short term memory and language delay. Patients may represent moderate intellectual disability, stereotyped behaviors, autistic features, impaired nociception, hypotonia and seizures. Facial asymmetry and streak ovaries were also reported in a few cases. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
1 |
Gouty bursitis of bilateral olecranon (disorder) |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Some |
3 |
Gouty bursitis of olecranon (disorder) |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Some |
2 |
Gouty bursitis of shoulder |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Some |
2 |
Gouty bursitis of left shoulder |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Some |
2 |
Gouty bursitis of right shoulder (disorder) |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Some |
2 |
Gouty bursitis of bilateral shoulders |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Some |
3 |
Gouty bursitis of knee |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Some |
2 |
Gouty bursitis of left knee (disorder) |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Some |
2 |
Gouty bursitis of right knee (disorder) |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Some |
2 |
Gouty bursitis of bilateral knees |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Some |
3 |
A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
10 |
Gouty arthritis of bilateral wrist joints |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Some |
3 |
Gouty arthritis of wrist |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Some |
2 |
Melorheostosis of left rib (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
Melorheostosis of right rib (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
Melorheostosis of rib |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
Melorheostosis of bone of right hand (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
Melorheostosis of bone of hand (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
Melorheostosis of bone of left hand |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
Melorheostosis of bone of left forearm |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
Melorheostosis of bone of right forearm |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
Melorheostosis of bone of forearm |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
Systemic onset juvenile idiopathic arthritis of left ankle |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of right ankle (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of ankle |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of bilateral ankles |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
Gouty arthritis of left radiocarpal joint |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Some |
2 |
Gouty arthritis of right radiocarpal joint |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Some |
2 |
Gouty arthritis of radiocarpal joint |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of left foot |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of foot (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of right foot (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of bilateral feet |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
Systemic onset juvenile idiopathic arthritis of left hand (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of right hand (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of bilateral hands |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
Systemic onset juvenile idiopathic arthritis of hand |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of joint of left shoulder region (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of joint of right shoulder region (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of joint of bilateral shoulder regions (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
Systemic onset juvenile idiopathic arthritis of joint of shoulder region (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of right hip (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of hip |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of left hip (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of bilateral hips (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
3 |
Schwartz ocular syndrome (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
5 |
A rare hyper-IgE syndrome characterised by early-onset moderate to severe atopic dermatitis and recurrent infections of variable severity including molluscum contagiosum, pneumonia, abscesses, bacteraemia, or eczema herpeticum, among others. Other reported manifestations include asthma, food allergies, colitis, chronic diarrhoea, lymphoma, and seizures, as well as dysmorphic facial features, such as prominent forehead, broad nose, and poor dentition. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
2 |
Ocular hypertension due to intraocular neoplasm of left eye |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Some |
1 |