From HPO
Vascular dilatation- MedGen UID:
- 8076
- •Concept ID:
- C0002940
- •
- Pathologic Function
Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
Diarrhea- MedGen UID:
- 8360
- •Concept ID:
- C0011991
- •
- Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Hematochezia- MedGen UID:
- 5481
- •Concept ID:
- C0018932
- •
- Disease or Syndrome
The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.
Protein-losing enteropathy- MedGen UID:
- 19522
- •Concept ID:
- C0033680
- •
- Disease or Syndrome
Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) is characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption. Some patients also exhibit bowel inflammation, recurrent infections associated with hypogammaglobulinemia, and/or angiopathic thromboembolic disease. Patient T lymphocytes show increased complement activation, causing surface deposition of complement and generating soluble C5a (Ozen et al., 2017).
Malabsorption- MedGen UID:
- 811453
- •Concept ID:
- C3714745
- •
- Finding
Impaired ability to absorb one or more nutrients from the intestine.
Subarachnoid hemorrhage- MedGen UID:
- 11625
- •Concept ID:
- C0038525
- •
- Disease or Syndrome
Hemorrhage occurring between the arachnoid mater and the pia mater.
Cerebral calcification- MedGen UID:
- 124360
- •Concept ID:
- C0270685
- •
- Finding
The presence of calcium deposition within the cerebrum.
Premature graying of hair- MedGen UID:
- 75524
- •Concept ID:
- C0263498
- •
- Finding
Development of gray hair at a younger than normal age.
Poikiloderma- MedGen UID:
- 97905
- •Concept ID:
- C0392777
- •
- Disease or Syndrome
Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.
Chorioretinal scar- MedGen UID:
- 40279
- •Concept ID:
- C0008512
- •
- Acquired Abnormality
Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye.
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system