From HPO
Increased intracranial pressure- MedGen UID:
- 56241
- •Concept ID:
- C0151740
- •
- Finding
An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.
Hypochromic anemia- MedGen UID:
- 8065
- •Concept ID:
- C0002884
- •
- Disease or Syndrome
A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.
Gingival bleeding- MedGen UID:
- 42218
- •Concept ID:
- C0017565
- •
- Pathologic Function
Hemorrhage affecting the gingiva.
Umbilical hernia- MedGen UID:
- 9232
- •Concept ID:
- C0019322
- •
- Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Diastasis recti- MedGen UID:
- 113171
- •Concept ID:
- C0221766
- •
- Disease or Syndrome
A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).
Supraumbilical raphe- MedGen UID:
- 1615232
- •Concept ID:
- C4539078
- •
- Anatomical Abnormality
An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button).
Elevated circulating alkaline phosphatase concentration- MedGen UID:
- 727252
- •Concept ID:
- C1314665
- •
- Finding
Abnormally increased serum levels of alkaline phosphatase activity.
Ectopic tooth eruption- MedGen UID:
- 21206
- •Concept ID:
- C0040438
- •
- Disease or Syndrome
A condition in which the permanent teeth, because of deficiency of growth in the jaw or segment of jaw, assume a path of eruption that intercepts a primary tooth, causes its premature loss and produces a consequent malposition of the permanent tooth.
Facial asymmetry- MedGen UID:
- 266298
- •Concept ID:
- C1306710
- •
- Finding
An abnormal difference between the left and right sides of the face.
Proptosis- MedGen UID:
- 41917
- •Concept ID:
- C0015300
- •
- Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Visual loss- MedGen UID:
- 784038
- •Concept ID:
- C3665386
- •
- Finding
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of metabolism/homeostasis
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system