From HPO
Hematuria- MedGen UID:
- 5488
- •Concept ID:
- C0018965
- •
- Disease or Syndrome
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Oroticaciduria- MedGen UID:
- 78642
- •Concept ID:
- C0268128
- •
- Finding
An increased concentration of orotic acid in the urine.
Orotic acid crystalluria- MedGen UID:
- 480256
- •Concept ID:
- C3278626
- •
- Finding
Formation of crystals owing to an increased concentration of orotic acid in the urine.
Atrial septal defect- MedGen UID:
- 6753
- •Concept ID:
- C0018817
- •
- Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Ventricular septal defect- MedGen UID:
- 42366
- •Concept ID:
- C0018818
- •
- Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Global developmental delay- MedGen UID:
- 107838
- •Concept ID:
- C0557874
- •
- Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Anisocytosis- MedGen UID:
- 66371
- •Concept ID:
- C0221278
- •
- Finding
Abnormally increased variability in the size of erythrocytes.
Poikilocytosis- MedGen UID:
- 67451
- •Concept ID:
- C0221281
- •
- Finding
The presence of abnormally shaped erythrocytes.
Hypochromia- MedGen UID:
- 87187
- •Concept ID:
- C0333912
- •
- Finding
A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells.
Pyrimidine-responsive megaloblastic anemia- MedGen UID:
- 867366
- •Concept ID:
- C4021731
- •
- Disease or Syndrome
A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid.
Folate-unresponsive megaloblastic anemia- MedGen UID:
- 870827
- •Concept ID:
- C4025287
- •
- Disease or Syndrome
A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia.
Impaired T cell function- MedGen UID:
- 395415
- •Concept ID:
- C1860127
- •
- Cell or Molecular Dysfunction
Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.
Reduced orotidine 5-prime phosphate decarboxylase level- MedGen UID:
- 892392
- •Concept ID:
- C4025636
- •
- Finding
An abnormal decrease in orotidine 5'-phosphate decarboxylase level.
- Abnormality of blood and blood-forming tissues
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the nervous system
- Growth abnormality