Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Thyroglobulin synthesis defect |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Iodotyrosyl coupling defect |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Iodotyrosine deiodination defect |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Dyshormonogenetic goiter AND iodide leak |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Familial dyshormonogenetic goitre |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Hypothyroidism due to iodide trapping defect |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Hypothyroidism due to iodide organification defect |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Hyperosmolar coma due to drug induced diabetes mellitus (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
6q16 microdeletion syndrome |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Bowel-associated dermatosis-arthritis syndrome |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
intestinalt bypass-syndrom |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Glomerular filtration rate above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Carcinoid heart disease |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Heat stroke |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Exertional heat stroke (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Heat exhaustion |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Heat exhaustion due to salt depletion |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Heat exhaustion co-occurrent and due to anhidrosis (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Sunstroke |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Base excess |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Occipitofrontal circumference greater than two standard deviations above the mean for a given age, sex or gestation (i.e. equal to or greater than the 97th percentile). |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Congenital macrocephaly (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Bannayan syndrome |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized 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 (qualifier value) |
Inferred relationship |
Some |
8 |
Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
6 |
Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
5 |
Birth head circumference equal to or greater than 97th centile (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Child HC = > 97th centile |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Child HC = 98th centile |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Child HC 98.1st-99.6th centile |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Child HC >99.6th centile |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
24 hour urine volume excessive |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
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 (qualifier value) |
Inferred relationship |
Some |
2 |
MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
A rare genetic neurological disease with the association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose and long philtrum. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
6 |
A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
A rare genetic disease characterized 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 (qualifier value) |
Inferred relationship |
Some |
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 (qualifier value) |
Inferred relationship |
Some |
1 |
A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Vomit pH more alkaline than reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Idiopathic hyperphosphatasemia |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Hyperphosphatemia due to chronic kidney disease (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Hypercalcemia due to chronic kidney disease (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Excessive weight gain measured during pregnancy (finding) |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Faecal fat excessive |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Feces pH more alkaline than reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Serum albumin above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Serum amino acid above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Serum bicarbonate above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Serum androstenedione above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Serum creatine kinase above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Plasma creatine kinase above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
A rare neurologic disease with characteristics of persistent elevation of the serum creatine phosphokinase (CK) without any clinical, neuro-physical or histopathological evidence of neuromuscular disease using available laboratory procedures. It is usually an incidental finding, diagnosed after exclusion of other possible causes of elevated CK levels. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Serum inorganic phosphate above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Serum progesterone above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Serum sodium above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Serum testosterone above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Serum thyroid stimulating hormone above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Serum vitamin B12 above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Proportionate bilateral long legs |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Chronic gout caused by drug |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Chronic gout caused by lead (disorder) |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Monoarticular chronic primary gouty arthritis |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
Monoarticular acute primary gout |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Monoarticular chronic gout caused by lead |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
Monoarticular acute gout caused by lead |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Acute gout caused by lead (disorder) |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Acute drug-induced gout |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Polycythemia due to HIF2A mutation |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Polyarticular chronic primary gouty arthritis |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Serum zinc above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Thrombin time above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Primary familial polycythemia due to erythropoietin receptor mutation |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Polycythemia due to PHD2 mutation |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Relative polycythemia due to chronic loss of plasma volume |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Relative polycythaemia due to acute loss of plasma volume |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Polyarticular acute primary gout |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Polyarticular chronic gout caused by lead |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
Polyarticular acute gout caused by lead (disorder) |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
Increased fibrinolysis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Sputum: eosinophilia |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Relative lymphocytosis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Monocytosis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Reactive monocytosis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Monocytic leukemoid reaction |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Chronic idiopathic monocytosis |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Hyperproinsulinaemia |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Neutrophilic eccrine hidradenitis |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
Neutrophilic eccrine hidradenitis due to cytotoxic therapy (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Increased blood oxygen pressure |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Granulocyte count above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Abnormally increased organ weight (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Rheumatoid neutrophilic dermatitis |
Has interpretation |
False |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
Alkaline phosphatase liver isoenzyme above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Intestinal alkaline phosphatase above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |