Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Gouty arthritis of left elbow (disorder) |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Gouty arthritis of right elbow |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Gouty arthritis of left wrist (disorder) |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Gouty arthritis of right wrist |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chronic tophaceous gout of left foot |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chronic tophaceous gout of right foot (disorder) |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital nephrotic syndrome with evidence of diffuse mesangial sclerosis on histology or with DNA evidence of a genetic mutation associated with diffuse mesangial sclerosis. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Steroid sensitive nephrotic syndrome of childhood |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nephrotic syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Nephrotic syndrome with minimal change glomerulonephritis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nephrotic syndrome co-occurrent and due to membranoproliferative glomerulonephritis type III (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nephrotic-nephritic syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Steroid resistant nephrotic syndrome of childhood |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital nephrotic syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Familial mesangial sclerosis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Nephrotic syndrome, dense deposit disease (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood nephrotic syndrome (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nephrotic syndrome, focal and segmental glomerular lesions (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
LAMB2-related infantile-onset nephrotic syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Nephrotic syndrome secondary to glomerulonephritis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Galloway Mowat syndrome (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Nephrotic syndrome secondary to systemic disease |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Nephrotic syndrome co-occurrent with human immunodeficiency virus infection (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nephrotic syndrome due to type 1 diabetes mellitus (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Multi-drug resistant nephrotic syndrome (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nephrotic syndrome co-occurrent and due to systemic lupus erythematosus (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nephrotic syndrome, diffuse mesangial proliferative glomerulonephritis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nephrotic syndrome with proliferative glomerulonephritis (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nephrotic syndrome with membranous glomerulonephritis (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital nephrotic syndrome with evidence of an underlying congenital infection (e.g. syphilis, toxoplasmosis, rubella, hepatitis B). |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nephrotic syndrome with membranoproliferative glomerulonephritis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Steroid-sensitive nephrotic syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Steroid-resistant nephrotic syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nephrotic syndrome, minor glomerular abnormality |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Steroid-dependent nephrotic syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nephrotic syndrome, diffuse membranous glomerulonephritis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital nephrotic syndrome with focal glomerulosclerosis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Drash syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Nephrotic syndrome, diffuse endocapillary proliferative glomerulonephritis (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nephrotic syndrome due to type 2 diabetes mellitus |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nephrotic syndrome, diffuse mesangiocapillary glomerulonephritis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nephrotic syndrome in amyloidosis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nephrotic syndrome, diffuse crescentic glomerulonephritis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Finnish congenital nephrotic syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Nephrotic syndrome associated with another disorder (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nephrotic syndrome due to diabetes mellitus (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nephrotic syndrome in malaria |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Sporadic idiopathic steroid-resistant nephrotic syndrome (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nephrotic syndrome in polyarteritis nodosa |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cyclic citrullinated peptide antibody measurement above reference range (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Leigh-Syndrom mit nephrotischem Syndrom |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pyoderma gangrenosum |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Bancroftian filarial fever |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Malayan filarial fever |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Eosinophilia of peritoneal fluid |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Frontometaphyseal dysplasia |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hyperphosphatasemia with bone disease |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Axial osteosclerosis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Oculodento-osseous dysplasia - mild type |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pachydermoperiostosis - familial |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteopathia striata |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Metaphyseal dysplasia Braun Tinschert type (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Craniometaphyseal dysplasia - severe type (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Pyle metaphyseal dysplasia |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Craniometaphyseal dysplasia - mild type |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dysplasia with increased bone density |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Dacryocystitis and osteopoikilosis syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Mixed sclerosing bone dysplasia (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Oculodento-osseous dysplasia |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Craniodiaphyseal dysplasia |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteopathia striata with cranial sclerosis (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cranioosteoarthropathy (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Melorheostosis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Oculodento-osseous dysplasia - severe type |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Osteosclerosis - Stanescu type |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Craniometaphyseal dysplasia |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Osteopoikilosis (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
12q14 microdeletion syndrome (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Dysosteosclerosis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Infantile cortical hyperostosis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Non-chronic lymphocytic leukemia monoclonal B-cell lymphocytosis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Mixed sclerosing bone dystrophy with extra-skeletal manifestation |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive secondary polycythaemia not associated with VHL (Von Hippel Lindau) gene |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Maternal pyrexia in labor |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acute nephrotic syndrome (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Monoclonal B-cell lymphocytosis chronic lymphocytic leukemia-type |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hyperosmolar coma due to diabetes mellitus |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
à l'examen : thorax en tonneau |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Barrel chest |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hyperphosphatasemia tarda |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pyknodysostosis (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autosomal dominant secondary polycythemia |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |