From HPO
Azoospermia- MedGen UID:
- 2150
- •Concept ID:
- C0004509
- •
- Disease or Syndrome
Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.
Growth delay- MedGen UID:
- 99124
- •Concept ID:
- C0456070
- •
- Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Elevated hepatic iron concentration- MedGen UID:
- 868497
- •Concept ID:
- C4022891
- •
- Finding
An increased level of iron in liver tissues.
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Sideroblastic anemia- MedGen UID:
- 8067
- •Concept ID:
- C0002896
- •
- Disease or Syndrome
Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).
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.
Decreased mean corpuscular volume- MedGen UID:
- 1375398
- •Concept ID:
- C0855790
- •
- Finding
A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Increased circulating ferritin concentration- MedGen UID:
- 69130
- •Concept ID:
- C0241013
- •
- Finding
Increased concentration of ferritin in the blood circulation.
Elevated transferrin saturation- MedGen UID:
- 868498
- •Concept ID:
- C4022892
- •
- Finding
An above normal level of saturation of serum transferrin with iron.
Pallor- MedGen UID:
- 10547
- •Concept ID:
- C0030232
- •
- Finding
Abnormally pale skin.
Cafe-au-lait spot- MedGen UID:
- 113157
- •Concept ID:
- C0221263
- •
- Finding
Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.
Hypogonadism- MedGen UID:
- 5711
- •Concept ID:
- C0020619
- •
- Disease or Syndrome
A decreased functionality of the gonad.
- Abnormality of blood and blood-forming tissues
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the endocrine system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the integument
- Growth abnormality