Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Gouty arthritis of left elbow |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Gouty arthritis of right elbow |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Gouty arthritis of left wrist |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Gouty arthritis of right wrist |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Chronic tophaceous gout of left foot (disorder) |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Chronic tophaceous gout of right foot (disorder) |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
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 (qualifier value) |
Inferred relationship |
Some |
1 |
Steroid sensitive nephrotic syndrome of childhood (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Nephrotic syndrome |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
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 (qualifier value) |
Inferred relationship |
Some |
3 |
Nephrotic syndrome with minimal change glomerulonephritis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Nephrotic syndrome co-occurrent and due to membranoproliferative glomerulonephritis type III (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Nephrotic-nephritic syndrome |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Steroid resistant nephrotic syndrome of childhood |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Congenital nephrotic syndrome |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Familiær mesangial sklerose |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
Nephrotic syndrome, dense deposit disease |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Childhood nephrotic syndrome (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Nephrotic syndrome, focal and segmental glomerular lesions |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
LAMB2-related infantile-onset nephrotic syndrome |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Nephrotic syndrome secondary to glomerulonephritis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Nephrotic syndrome secondary to systemic disease |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
A rare genetic renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor. There is evidence this syndrome is caused by mutation in the CD151 gene. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Nephrotic syndrome co-occurrent with human immunodeficiency virus infection (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Nephrotic syndrome due to type 1 diabetes mellitus |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Multi-drug resistant nephrotic syndrome (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Nephrotic syndrome co-occurrent and due to systemic lupus erythematosus (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Nephrotic syndrome, diffuse mesangial proliferative glomerulonephritis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Nephrotic syndrome with proliferative glomerulonephritis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Nephrotic syndrome with membranous glomerulonephritis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Congenital nephrotic syndrome with evidence of an underlying congenital infection (e.g. syphilis, toxoplasmosis, rubella, hepatitis B). |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Nephrotic syndrome with membranoproliferative glomerulonephritis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Steroid-sensitive nephrotic syndrome |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Steroid-resistant nephrotic syndrome |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Nephrotic syndrome, minor glomerular abnormality |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Steroid-dependent nephrotic syndrome |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Nephrotic syndrome, diffuse membranous glomerulonephritis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Congenital nephrotic syndrome with focal glomerulosclerosis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Drash syndrome |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Nephrotic syndrome, diffuse endocapillary proliferative glomerulonephritis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Nephrotic syndrome due to type 2 diabetes mellitus |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Nephrotic syndrome, diffuse mesangiocapillary glomerulonephritis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Nephrotic syndrome in amyloidosis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Nephrotic syndrome, diffuse crescentic glomerulonephritis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Finnish congenital nephrotic syndrome |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Nephrotic syndrome associated with another disorder (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
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 (qualifier value) |
Inferred relationship |
Some |
1 |
Nephrotic syndrome due to diabetes mellitus (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Nephrotic syndrome in malaria |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Sporadic idiopathic steroid-resistant nephrotic syndrome (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Nephrotic syndrome in polyarteritis nodosa |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Cyclic citrullinated peptide antibody measurement above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Leigh syndrome with nephrotic syndrome |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Pyoderma gangrenosum |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Bancroftian filarial fever |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Malayan filarial fever (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Eosinophilia of peritoneal fluid (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Frontometaphyseal dysplasia |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Hyperphosphatasemia with bone disease |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
A very rare benign bone disorder with characteristics of bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content. The disease may be underdiagnosed due to confusion with autosomal dominant osteopetrosis. The condition is usually found incidentally on radiological examination and is very mild, sometimes accompanied by pain. Increased density of the vertebral plates, pelvis and occasionally of the upper femur have been reported, as well as kyphoscoliosis and femoral cysts. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Oculodento-osseous dysplasia - mild type |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Pachydermoperiostosis - familial |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Osteopathia striata |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Metaphyseal dysplasia, Braun-Tinschert type is characterized by metaphyseal undermodeling with broadening of the long bones and femora with an Erlenmeyer flask appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Craniometaphyseal dysplasia - severe type (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
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 (qualifier value) |
Inferred relationship |
Some |
6 |
Pyle metaphyseal dysplasia |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Craniometaphyseal dysplasia - mild type |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Dysplasia with increased bone density |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
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 (qualifier value) |
Inferred relationship |
Some |
2 |
Dacryocystitis and osteopoikilosis syndrome (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Mixed sclerosing bone dysplasia (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Oculodento-osseous dysplasia |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Craniodiaphyseal dysplasia |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Osteopathia striata with cranial sclerosis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Melorheostosis (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Oculodento-osseous dysplasia - severe type |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Osteosclerosis - Stanescu type |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Craniometaphyseal dysplasia |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Osteopoikilosis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
Dysosteosclerosis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
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 (qualifier value) |
Inferred relationship |
Some |
2 |
Infantile cortical hyperostosis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Non-chronic lymphocytic leukemia monoclonal B-cell lymphocytosis (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
A rare genetic coenzyme Q10 deficiency with characteristics of sensorineural deafness and severe progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminaemia and oedema, leading to end-stage renal disease. Renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely seizures, ataxia and dysmorphic features have been described. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
A rare genetic primary bone dysplasia with increased bone density disorder with characteristics of bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo/laryngomalacia, and astigmatic myopia are also associated. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
A rare hereditary haematologic disease characterised by an increase in haemoglobin, haematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnoea. In some cases, thrombophlebitis and arthralgia have also been reported. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Maternal pyrexia in labor |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Acute nephrotic syndrome (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Monoclonal B-cell lymphocytosis chronic lymphocytic leukaemia-type |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Hyperosmolar coma due to diabetes mellitus |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
objektivt: tøndeformet brystkasse |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Barrel chest |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Hyperphosphatasemia tarda |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Pyknodysostosis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
A rare genetic hematologic disease characterized by increased levels of serum hemoglobin, hematocrit and erythrocyte mass, associated with elevated or inappropriately normal erythropoietin serum levels, occurring in various members of a family and with autosomal dominant inheritance. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Syndrome with characteristics of the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular hyperpigmented dermopathy and a white forelock. It has been observed in a woman and her two daughters, whereas her son is unaffected. X-linked or autosomal dominant inheritance is proposed. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |