| 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 |