Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Age-related amyloidosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Propionic acidemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Transfusion hemosiderosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hereditary orotic aciduria, type 1 |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Adenosylcobalamin synthesis defect |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Proline dipeptidase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hypochloremic alkalosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hyperleucine-isoleucinemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Mucolipidosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Acidemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hypercalcemia due to sarcoidosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Dry beriberi (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Disorder of calcium metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Galactosuria |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Maple syrup urine disease, multiple dehydrogenase form |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Lysinuric protein intolerance, type 2 |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Water intoxication syndrome |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Vitamin A deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Inborn error of glutathione metabolism (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Niemann-Pick disease, type C, chronic form |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hydroxymethylglutaryl-CoA lyase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Isolated xanthine oxidase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Shunt hemosiderosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Kynureninase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Mucopolysaccharidosis, MPS-I-S |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Chronic zinc deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Schwabach test |
Procedure site |
False |
Body system structure |
Inferred relationship |
Some |
2 |
maladie de Niemann-Pick type E |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Cobalamin A disease |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hyponatremia with normal extracellular fluid volume |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Acute hypernatremia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Secondary periodic paralysis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Nutritional muscular degeneration |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hyponatremia with extracellular fluid depletion |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hyperchloremia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Localized metabolic disorder |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Cobalamin C disease |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Cobalt deficiency disease |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Vitamin disease |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Mucopolysaccharidosis, MPS-III-C |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Chloride disorder |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Mucopolysaccharidosis, MPS-I |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Classical phenylketonuria |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Metabolic disease |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Folic acid deficiency (non anemic) |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Ascorbic acid deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
acidurie glutarique de type 1 |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Mixed acid-base balance disorder |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Disorder of fluid AND/OR electrolyte |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Pseudohypoaldosteronism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Paper-pulling test (procedure) |
Procedure site |
False |
Body system structure |
Inferred relationship |
Some |
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 |
Some |
|
Disorder of lysine AND/OR hydroxylysine metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Glycoprotein storage disorder |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Adson's test |
Procedure site |
False |
Body system structure |
Inferred relationship |
Some |
1 |
Enzymopathy |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Gamma-glutamyl transpeptidase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Swayback of sheep |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Life support procedure |
Procedure site |
False |
Body system structure |
Inferred relationship |
Some |
|
Alkalemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Disorder of copper metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Disorder of bilirubin metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Primary hypomagnesemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Inherited methylmalonic acidemia AND homocystinuria |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Ornithine carbamoyltransferase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Abbott-Saunders test |
Procedure site |
False |
Body system structure |
Inferred relationship |
Some |
1 |
Cobalamin B disease |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Acyl-CoA dehydrogenase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Wolman's disease |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Taking neurologic vital signs |
Procedure site |
False |
Body system structure |
Inferred relationship |
Some |
2 |
Amino acid deficiency (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Disorder of glycine metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hepatic hemosiderosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Altitude alkalosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Metachromatic leukodystrophy without arylsulfatase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Indicanuria |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Selenium deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Trehalase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Disorder of propionate AND/OR methylmalonate metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Neurological examination |
Procedure site |
False |
Body system structure |
Inferred relationship |
Some |
2 |
Chester-type porphyria |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Disorder of pyrimidine metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Vitamin deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Inborn error of metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Thompson's test |
Procedure site |
False |
Body system structure |
Inferred relationship |
Some |
2 |
Porphyria |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hypocalciuria |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Bowstring test |
Procedure site |
False |
Body system structure |
Inferred relationship |
Some |
1 |
Disorder of phosphorus metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Modified Adson's test |
Procedure site |
False |
Body system structure |
Inferred relationship |
Some |
1 |
Isovaleryl-CoA dehydrogenase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Biotinidase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Infantile scurvy |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hypercalcemia associated with chronic dialysis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Sanfilippo syndrome |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Galactose epimerase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Costoclavicular maneuver |
Procedure site |
False |
Body system structure |
Inferred relationship |
Some |
1 |
Orthopedic examination under general anesthesia |
Procedure site |
False |
Body system structure |
Inferred relationship |
Some |
2 |
Systemic amyloidosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Tetrahydrofolate methyltransferase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hyponatremia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|