Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Intestinal alkaline phosphatase above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Placental alkaline phosphatase above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Serum amylase (pancreatic) above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Antistreptolysin O titre above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
A rare clinically variable bone dysplasia syndrome with characteristics of hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. In more than 90% of patients, mutations in the transforming growth factor TGFB1 gene (19q13.1) are detected. Inherited as an autosomal dominant trait with reduced penetrance. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
A rare disorder characterised by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anaemia. The exact prevalence is unknown. Associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Transmitted as an autosomal recessive trait. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
Systemic onset juvenile chronic arthritis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Adult onset Still's disease |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Increased renin secretion |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Increased renal clearance |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Augmented renal clearance (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Increased renal function |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
A rare overgrowth syndrome associated with multiple congenital anomalies characterized by tall stature, large hands and feet with large thumbs and halluces, spatulate digits, developmental delay and facial dysmorphism. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
A rare overgrowth syndrome with skeletal involvement characterized by pre- or postnatal onset of overgrowth, accelerated bone age in infancy and early childhood, tall stature, bony overgrowth of the skull base, spondylar dysplasia, and undermodeling of the tubular bones. Facial dysmorphism includes mild hypertelorism, depressed nasal bridge, short and broad nose, and full lower lip. Additional reported features are scoliosis, as well as delayed puberty, cryptorchidism, and hypospadias. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Serum T4 above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
T3 uptake above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Thyroid binding globulin above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Serum female sex hormone above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Serum male sex hormone above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Free androgenic index above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Serum estradiol above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Urine norepinephrine above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Pregnanetriol above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Estriol in serum above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Fetoplacental hormone above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Pituitary function test above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Increased placental secretion of chorionic gonadotropin |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Urine adrenalin above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Urine 17 ketogenic steroid above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
5 |
Amniotic fluid alpha-fetoprotein above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Euglobulin clot lysis time above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Free immunoglobulin light chain above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Plasma protein above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Serum protein above reference range |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Serum total protein above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Hyperfibrinolysis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Antepartum haemorrhage with hyperfibrinolysis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Azotemia (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Uremia |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Uremic neuropathy |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Chronic hypertensive uremia |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
Uremic acidosis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
uræmi efter molagraviditet OG/ELLER ektopisk graviditet |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
6 |
Failed attempted abortion with uremia (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Uraemia in pregnancy without hypertension |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Congenital uraemia |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Pericarditis secondary to uremia |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
Induced termination of pregnancy complicated by uraemia |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Acute pericarditis co-occurrent and due to uremia (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
5 |
Azotemia due to intrarenal disease (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Uremia due to inadequate renal perfusion (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Postrenal azotemia (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Prerenal azotemia (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Illegal abort med uræmi |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
legal abort med uræmi |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Postrenal uremia (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Abnormally increased cellular element of blood |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Cerebrospinal fluid cell content above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
CSF: erythrocytosis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Cerebrospinal fluid lymphocytosis (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
CSF: polymorphonuclear leukocytosis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Blood magnesium above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Blood urea above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Large for gestational age newborn (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Whole blood folate above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Red blood cell folate above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Serum folate above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Respiratory flow rate above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Increased forced expiratory volume |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Lung function restrictive |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Chest over-expanded |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Increased lung compliance |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Increased functional residual capacity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Diffusion capacity of lung above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
High ventilation-perfusion ratio |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Vitamin B within reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Vitamin K1 above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
A rare disorder with multisystemic involvement and glomerulopathy characterized by progressive steroid-resistant nephrotic syndrome typically associated with focal segmental glomerulosclerosis, as well as primary adrenal insufficiency with adrenal calcifications. Age of onset and disease course are variable, with some cases presenting as severe fetal hydrops, while most patients present in infancy or early childhood and progress to end-stage renal disease within a few years. Additional features include ichthyosis, primary hypothyroidism, hypogonadism, immunodeficiency, and neurological manifestations (such as cognitive impairment, ataxia, sensorineural hearing loss, or seizures). |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Basal metabolic rate above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Fast metabolic rate |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Total iron binding capacity above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Urine calcium above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Urine urate above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Serum chloride above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Serum copper above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Arterial partial pressure of carbon dioxide above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Hemoglobin A1c greater than 10 percent indicating poor diabetic control (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Increased maximal voluntary ventilation |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
Complement level above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Glucoglycinuria |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Glucose tolerance test indicates diabetes mellitus |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
A rare systemic disease characterized by acute or subacute onset of thrombocytopenia, anasarca (edema, pleural effusion, ascites), and systemic inflammation (fever and/or elevated C-reactive protein). Minor diagnostic categories are Castleman's disease-like features on lymph node biopsy, reticulin myelofibrosis and/or increased number of megakaryocytes in bone marrow, progressive renal insufficiency, and mild organomegaly including hepatosplenomegaly and lymphadenopathy. Most patients show elevated levels of serum alkaline phosphatase, while marked polyclonal hypergammopathy is rare. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
5 |
Moderately increased albuminuria due to exercise (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Obesity due to pituitary disease |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Febrile transfusion reaction |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Grain fever |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |