Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Thyroglobulin synthesis defect |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Iodotyrosyl coupling defect |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Iodotyrosine deiodination defect |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Dyshormonogenetic goiter AND iodide leak |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Familial dyshormonogenetic goiter |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Hypothyroidism due to iodide trapping defect |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Hypothyroidism due to iodide organification defect |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Hyperosmolar coma due to drug induced diabetes mellitus |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
6q16 microdeletion syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Bowel-associated dermatosis-arthritis syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Bowel-bypass syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Glomerular filtration rate above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Carcinoid heart disease |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Heat stroke |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Exertional heat stroke |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Heat exhaustion |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Heat exhaustion due to salt depletion |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Heat exhaustion co-occurrent and due to anhidrosis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Sunstroke |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Base excess |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Macrocephaly |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital macrocephaly |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Bannayan syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
8 |
Intellectual disability, seizures, macrocephaly, obesity syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
6 |
Macrocephaly and developmental delay syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Macrocephaly with spastic paraplegia and dysmorphism syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
5 |
Birth head circumference equal to or greater than 97th centile |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Child head circumference equal to or greater than 97th centile |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Child head circumference equal to 98th centile |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Child head circumference 98.1st-99.6th centile |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Child head circumference >99.6th centile |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
2 |
24 hour urine volume excessive |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Hereditary persistence of alpha-fetoprotein |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Macrocephaly, short stature, paraplegia syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Macrocephaly, obesity, mental disability, ocular abnormality syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Macrocephaly, intellectual disability, autism syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Malan overgrowth syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Pectus excavatum, macrocephaly, dysplastic nails syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
6 |
Overgrowth, macrocephaly, facial dysmorphism syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Relative macrocephaly |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked intellectual disability Atkin type |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked intellectual disability, macrocephaly, macroorchidism syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Vomit pH more alkaline than reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Idiopathic hyperphosphatasemia |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Hyperphosphatemia due to chronic kidney disease |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Hypercalcemia due to chronic kidney disease |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Excessive weight gain measured during pregnancy |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Fecal fat excessive |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Feces pH more alkaline than reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Serum albumin above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Serum amino acid above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Serum bicarbonate above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Serum androstenedione above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Serum creatine kinase above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Plasma creatine kinase above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Isolated asymptomatic elevation of creatine phosphokinase |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Serum inorganic phosphate above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Serum progesterone above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Serum sodium above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Serum testosterone above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Serum thyroid stimulating hormone above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Serum vitamin B12 above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Proportionate bilateral long lower limbs |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Chronic gout caused by drug |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Chronic gout caused by lead |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Monoarticular chronic primary gouty arthritis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Monoarticular acute primary gout |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Monoarticular chronic gout caused by lead |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Monoarticular acute gout caused by lead |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Acute gout caused by lead |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Acute gout caused by drug |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Polycythemia due to HIF2A mutation |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Polyarticular chronic primary gouty arthritis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Serum zinc above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Thrombin time above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Primary familial polycythemia due to erythropoietin receptor mutation |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Polycythemia due to PHD2 mutation |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Pseudo polycythemia due to chronic loss of plasma volume |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Pseudo polycythemia due to acute loss of plasma volume |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Polyarticular acute primary gout |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Polyarticular chronic gout caused by lead |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Polyarticular acute gout caused by lead |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Increased fibrinolysis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Sputum: eosinophilia |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Relative lymphocytosis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Monocytosis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Reactive monocytosis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Monocytic leukemoid reaction |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Chronic idiopathic monocytosis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Hyperproinsulinemia |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Neutrophilic eccrine hidradenitis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Neutrophilic eccrine hidradenitis caused by cytotoxic therapy |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Increased blood oxygen pressure |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Granulocyte count above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Abnormally increased organ weight |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Rheumatoid arthritis with neutrophilic dermatitis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Alkaline phosphatase liver isoenzyme above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Intestinal alkaline phosphatase above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier |
1 |