Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Melorheostosis of spine |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Melorheostosis of right foot (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Melorheostosis of left foot (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Melorheostosis of right lower leg (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Melorheostosis of left lower leg |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Brazilian purpuric fever (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
A rare congenital disorder of glycosylation characterised by chronic, non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolaemia, and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported in single cases. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Serotonin-producing neuroendocrine neoplasm of pancreas |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose, and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Puerperal pyrexia |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Puerperal pyrexia of unknown origin |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Puerperal pyrexia of unknown origin - delivered with postnatal complication |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Puerperal pyrexia of unknown origin with postnatal complication |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Fibrinolysis - postpartum |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare primary bone dysplasia with increased bone density characterized by slowly progressive endosteal hyperostosis and osteosclerosis exclusively of the skull base and the calvaria, resulting in entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII. First symptoms often appear during the second decade of life and include disturbances in smell, vision, facial sensation and expression, hearing, and balance, as well as headaches due to increased ocular and intracranial pressure. After the fourth decade, radiological progression is minimal, although decreased intracranial volume can lead to death in severe cases. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Urine substance level above reference range (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Blood substance level above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Increased oestrogen level |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Parturient hemorrhage associated with hyperfibrinolysis (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Early-onset calcifying leucoencephalopathy, skeletal dysplasia |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Amniotic fluid volume above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
SIM1-related Prader-Willi-like syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
MAGE family member L2-related Prader-Willi-like syndrome (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Fluid thrill of amniotic fluid present (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Postpartum fibrinolysis with hemorrhage |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Placental volume above reference range (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hypercalcemia caused by thiazide and/or retinol (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare disease with malignant hyperthermia characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40°C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Polyclonal hyperviscosity syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Classical type acute febrile neutrophilic dermatosis (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Classical type acute febrile neutrophilic dermatosis (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acute febrile neutrophilic dermatosis due to neoplastic disease |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Acute febrile neutrophilic dermatosis due to neoplastic disease |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Hypermobility syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ehlers-Danlos syndrome, type 3 |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Generalized benign joint hypermobility |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Localised benign joint hypermobility |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Gamma-enolase level above reference range (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Keratin, type I cytoskeletal 19 fragment above reference range (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Classical-like Ehlers-Danlos syndrome type 2 |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Immunoglobulin G4 related eosinophilic angiocentric fibrosis (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterised by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioural problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Hidradenitis suppurativa pyoderma gangrenosum complex (disorder) |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acute febrile neutrophilic dermatosis of hand (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acute febrile neutrophilic dermatosis of hand (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hypoxic nephrosis (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pustular pyoderma gangrenosum (disorder) |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pyoderma gangrenosum due to inflammatory polyarthropathy (disorder) |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Pyoderma gangrenosum due to inflammatory bowel disease (disorder) |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Ulcerative pyoderma gangrenosum (disorder) |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Pyoderma gangrenosum linked to haematological disorder |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Superficial vegetating pyoderma gangrenosum (disorder) |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Castleman disease with immunoglobulin M monoclonal gammopathy of uncertain significance |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Castleman disease with immunoglobulin M monoclonal gammopathy of uncertain significance |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Microproteinuria (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Grade A2 albuminuria |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Grade A3 albuminuria |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Genetic non-syndromic obesity |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital leptin deficiency |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Idiopathic steroid-resistant nephrotic syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare, idiopathic nephrotic syndrome characterised by paediatric onset of proteinuria, hypoalbuminaemia and oedema. Patients respond successfully to the initial standard course of corticosteroids but are resistant to standard therapy for a subsequent relapse and following this relapse remain steroid-resistant. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
A rare hematologic disease characterized by symptoms of mast cell activation in the absence of cutaneous findings, as well as absence of diagnostic criteria of systemic mastocytosis with tryptase levels of less than 20 ng/ml and normal to low burden of mast cells. Bone marrow biopsy reveals the presence of monoclonal mast cells carrying the KIT D816V mutation and/or expressing CD25. Patients present with recurrent episodes of flushing, headache, hypotension, abdominal cramping, nausea, diarrhea, cardiac arrhythmias, bronchoconstriction, and bleeding diathesis, among others. |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare hematologic disease characterized by symptoms of mast cell activation in the absence of cutaneous findings, as well as absence of diagnostic criteria of systemic mastocytosis with tryptase levels of less than 20 ng/ml and normal to low burden of mast cells. Bone marrow biopsy reveals the presence of monoclonal mast cells carrying the KIT D816V mutation and/or expressing CD25. Patients present with recurrent episodes of flushing, headache, hypotension, abdominal cramping, nausea, diarrhea, cardiac arrhythmias, bronchoconstriction, and bleeding diathesis, among others. |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hepatitis C antibody detected with elevated alanine transaminase (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Uraemia following molar pregnancy |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Uremia following ectopic pregnancy (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
NLR family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lipoprotein (a) hyperlipoproteinemia (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Albuminuria |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Methemalbuminuria |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Orthostatic proteinuria |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Mixed proteinuria |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Persistent orthostatic proteinuria |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Proteinuria |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Persistent microalbuminuria due to type 2 diabetes mellitus (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Persistent microalbuminuria due to type 1 diabetes mellitus (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Gestational proteinuria without hypertension (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Microalbuminuria due to type 1 diabetes mellitus |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Microalbuminuria due to type 2 diabetes mellitus (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Microalbuminuric diabetic nephropathy |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Asymptomatic proteinuria |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Persistent gestational proteinuria (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Intermittent orthostatic proteinuria (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Intermittent gestational proteinuria (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Gestational edema with proteinuria |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pregnancy-induced oedema and proteinuria without hypertension |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Gestational proteinuria |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Persistent Bence Jones proteinuria |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bence-Jones proteinuria (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Relapsing fever caused by Borrelia miyamotoi |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Relapsing fever caused by Borrelia latyschewii |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Relapsing fever caused by Borrelia hermsii |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Relapsing fever caused by Borrelia venezuelensis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Relapsing fever caused by Borrelia mazzottii (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |