Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Age-related amyloidosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Propionic acidemia (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Transfusion hemosiderosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hereditary orotic aciduria, type 1 |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Adenosylcobalamin synthesis defect |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Proline dipeptidase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hypochloremic alkalosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hyperleucine-isoleucinemia (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mucolipidosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Acidemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hypercalcemia due to sarcoidosis (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Dry beriberi (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Disorder of calcium metabolism (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Galactosuria |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Maple syrup urine disease, multiple dehydrogenase form (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Lysinuric protein intolerance, type 2 |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Water intoxication syndrome |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Vitamin A deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Inborn error of glutathione metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Niemann-Pick disease, type C, chronic form |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hydroxymethylglutaryl-CoA lyase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Isolated xanthine oxidase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Shunt hemosiderosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Kynureninase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mucopolysaccharidosis, MPS-I-S |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic zinc deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Schwabach test |
Procedure site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
maladie de Niemann-Pick type E |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cobalamin A disease |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hyponatremia with normal extracellular fluid volume |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Acute hypernatremia (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Secondary periodic paralysis |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Nutritional muscular degeneration |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hyponatremia with extracellular fluid depletion |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hyperchloremia |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Localised metabolic disorder |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cobalamin C disease (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cobalt deficiency disease |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Vitamin disease (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mucopolysaccharidosis, MPS-III-C |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chloride disorder |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mucopolysaccharidosis, MPS-I |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Classical phenylketonuria |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Metabolic disease |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Folic acid deficiency (non anemic) (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Ascorbic acid deficiency (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
acidurie glutarique de type 1 |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mixed acid-base balance disorder |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Disorder of fluid AND/OR electrolyte |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Pseudohypoaldosteronism |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Paper-pulling test (procedure) |
Procedure site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare disorder of pyrimidine metabolism with characteristics of a variable phenotype ranging from absence of symptoms to severe neurological involvement with developmental delay, intellectual disability, and seizures. Additional signs and symptoms may include hypotonia, microcephaly, ocular abnormalities (such as microphthalmia, nystagmus, and strabismus), and autistic behavior, among others. Analysis of urine typically shows high levels of uracil and thymine. Patients are at risk of suffering from severe toxicity after the administration of the anti-neoplastic agent 5-fluorouracil. |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Disorder of lysine AND/OR hydroxylysine metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Glycoprotein storage disorder |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Adson's test |
Procedure site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Enzymopathy |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Gamma-glutamyl transpeptidase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Swayback of sheep |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Life support procedure (procedure) |
Procedure site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Alkalaemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Disorder of copper metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Disorder of bilirubin metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Primary hypomagnesemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Inherited methylmalonic acidemia AND homocystinuria (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Ornithine carbamoyltransferase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Abbott-Saunders test |
Procedure site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cobalamin B disease |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Acyl-CoA dehydrogenase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Wolman's disease |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Taking neurologic vital signs |
Procedure site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Amino acid deficiency (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Disorder of glycine metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hepatic hemosiderosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Altitude alkalosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Metachromatic leukodystrophy without arylsulfatase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Indicanuria |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Selenium deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Trehalase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Disorder of propionate AND/OR methylmalonate metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Neurological examination (procedure) |
Procedure site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chester-type porphyria |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Disorder of pyrimidine metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Vitamin deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Inborn error of metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Thompson's test |
Procedure site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Porphyria |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hypocalciuria |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Bowstring test |
Procedure site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Disorder of phosphorus metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Modified Adson's test (procedure) |
Procedure site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Isovaleryl-CoA dehydrogenase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Biotinidase deficiency (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Infantile scurvy |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hypercalcaemia associated with chronic dialysis |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Sanfilippo syndrome (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Uridine diphosphate glucose-4-epimerase deficiency (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Costoclavicular maneuver |
Procedure site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Orthopedic examination under general anesthesia |
Procedure site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Systemic amyloidosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Tetrahydrofolate methyltransferase deficiency (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hyponatremia |
Finding site |
False |
Body system structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|