From HPO
Abdominal distention- MedGen UID:
- 34
- •Concept ID:
- C0000731
- •
- Finding
Distention of the abdomen.
Cholestasis- MedGen UID:
- 925
- •Concept ID:
- C0008370
- •
- Disease or Syndrome
Impairment of bile flow due to obstruction in bile ducts.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Jaundice- MedGen UID:
- 43987
- •Concept ID:
- C0022346
- •
- Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Hepatic failure- MedGen UID:
- 88444
- •Concept ID:
- C0085605
- •
- Disease or Syndrome
A disorder characterized by the inability of the liver to metabolize chemicals in the body. Causes include cirrhosis and drug-induced hepatotoxicity. Signs and symptoms include jaundice and encephalopathy. Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase.
Feeding difficulties- MedGen UID:
- 65429
- •Concept ID:
- C0232466
- •
- Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Hypoplasia of the corpus callosum- MedGen UID:
- 138005
- •Concept ID:
- C0344482
- •
- Congenital Abnormality
Underdevelopment of the corpus callosum.
Metabolic acidosis- MedGen UID:
- 65117
- •Concept ID:
- C0220981
- •
- Pathologic Function
Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.
Increased total bilirubin- MedGen UID:
- 152856
- •Concept ID:
- C0741494
- •
- Finding
Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.
Increased serum lactate- MedGen UID:
- 332209
- •Concept ID:
- C1836440
- •
- Finding
Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).
Elevated hepatic transaminase- MedGen UID:
- 338525
- •Concept ID:
- C1848701
- •
- Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Abnormal mitochondrial morphology- MedGen UID:
- 863087
- •Concept ID:
- C4014650
- •
- Finding
Any structural anomaly of the mitochondria.
- Abnormal cellular phenotype
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the nervous system