Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Thyroglobulin synthesis defect (disorder) |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Iodotyrosyl coupling defect |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Iodotyrosine deiodination defect |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Dyshormonogenetic goitre AND iodide leak |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial dyshormonogenetic goiter |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hypothyroidism due to iodide trapping defect |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hypothyroidism due to iodide organification defect |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hyperosmolar coma due to drug induced diabetes mellitus (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
6q16 microdeletion syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bowel-associated dermatosis-arthritis syndrome |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
syndrome post bypass intestinal |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Glomerular filtration rate above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Carcinoid heart disease (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Heat stroke |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Exertional heat stroke (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Heat exhaustion |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Heat exhaustion due to salt depletion |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Heat exhaustion co-occurrent and due to anhidrosis (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Sunstroke |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Base excess |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Macrocephaly (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital macrocephaly |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bannayan syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Macrocephaly and developmental delay syndrome (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Fryns macrocephaly |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Birth head circumference equal to or greater than 97th centile (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Child HC = > 97th centile |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Child HC = 98th centile |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Child HC 98.1st-99.6th centile |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Child head circumference >99.6th centile (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
24 hour urine volume excessive |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hereditary persistence of alpha-fetoprotein (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Macrocephaly, intellectual disability, autism syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Malan overgrowth syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pectus excavatum, macrocephaly, dysplastic nails syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Overgrowth, macrocephaly, facial dysmorphism syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Head circumference is less than two standard deviations above the mean, but appears disproportionately large when other factors such as stature are considered. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
X-linked intellectual disability Atkin type (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Vomit pH more alkaline than reference range (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Idiopathic hyperphosphatasemia |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hyperphosphatemia due to chronic kidney disease (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hypercalcemia due to chronic kidney disease (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Excessive weight gain measured during pregnancy (finding) |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Fecal fat excessive |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Alkalinity of faeces abnormally high |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Serum albumin above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Serum amino acid above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Serum bicarbonate above reference range (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Serum androstenedione above reference range (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Serum creatine kinase above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Plasma creatine kinase above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Isolated asymptomatic elevation of creatine phosphokinase (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Serum inorganic phosphate above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Serum progesterone above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Serum sodium above reference range (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Serum testosterone above reference range (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Serum thyroid stimulating hormone above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Serum vitamin B12 above reference range (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Proportionate bilateral long lower limbs (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chronic gout caused by drug |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Chronic gout caused by lead |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Monoarticular chronic primary gouty arthritis (disorder) |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Monoarticular acute primary gout |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Monoarticular chronic gout caused by lead |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Monoarticular acute gout caused by lead |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acute gout caused by lead (disorder) |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acute drug-induced gout |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Polycythemia due to HIF2A mutation |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Polyarticular chronic primary gouty arthritis (disorder) |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Serum zinc above reference range (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Thrombin time above reference range (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Primary familial polycythemia due to erythropoietin receptor mutation |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Polycythemia due to PHD2 mutation (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Relative polycythaemia due to chronic loss of plasma volume |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Relative polycythaemia due to acute loss of plasma volume |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Polyarticular acute primary gout |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Polyarticular chronic gout caused by lead |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Polyarticular acute gout caused by lead (disorder) |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Increased fibrinolysis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Sputum: eosinophilia |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Relative lymphocytosis (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Monocytosis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Reactive monocytosis (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Monocytic leukemoid reaction |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chronic idiopathic monocytosis |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hyperproinsulinaemia |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neutrophilic eccrine hidradenitis (disorder) |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Neutrophilic eccrine hidradenitis due to cytotoxic therapy (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Increased blood oxygen pressure (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Granulocyte count above reference range (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Abnormally increased organ weight |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Rheumatoid neutrophilic dermatitis |
Has interpretation |
False |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Alkaline phosphatase liver isoenzyme above reference range (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Intestinal alkaline phosphatase above reference range (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |