From HPO
Knee flexion contracture- MedGen UID:
- 98042
- •Concept ID:
- C0409355
- •
- Finding
A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.
Colitis- MedGen UID:
- 40385
- •Concept ID:
- C0009319
- •
- Disease or Syndrome
Ulcerative colitis is a chronic disorder that affects the digestive system. This condition is characterized by abnormal inflammation of the inner surface (epithelium) of the rectum and colon. The rectum and colon make up most of the length of the large intestine. The inflammation usually causes open sores (ulcers) to develop in the large intestine. Ulcerative colitis usually appears between the age of 15 and 30, although it can develop at any age. The inflammation tends to flare up multiple times throughout a person's life, which causes recurring signs and symptoms.\n\nThe most common symptoms of ulcerative colitis are cramping abdominal pain and frequent diarrhea, often with blood, pus, or mucus in the stool. Other signs and symptoms include nausea, loss of appetite, bowel urgency, fatigue, and fevers. Chronic bleeding from the inflamed and ulcerated intestinal tissue can cause a shortage of red blood cells (anemia) in some affected individuals. People with this disorder have difficulty absorbing enough fluids and nutrients from their diet and often experience weight loss. Affected children usually grow more slowly than normal. Less commonly, ulcerative colitis causes problems with the skin, joints, eyes, kidneys, or liver, which are most likely due to abnormal inflammation.\n\nToxic megacolon is a rare complication of ulcerative colitis that can be life-threatening. Toxic megacolon involves a widening (dilation) of the colon and an overwhelming inflammatory response. Ulcerative colitis also increases the risk of developing colon cancer, especially in people whose entire colon is inflamed and in those who have had ulcerative colitis for 8 years or more.\n\nUlcerative colitis is one common form of inflammatory bowel disease (IBD). Another type of IBD, Crohn's disease, also causes chronic inflammation of the intestines. Unlike ulcerative colitis, which affects only the inner surface of the large intestine, Crohn's disease can cause inflammation in any part of the digestive system, and the inflammation extends deeper into the intestinal tissue.
Hepatosplenomegaly- MedGen UID:
- 9225
- •Concept ID:
- C0019214
- •
- Sign or Symptom
Simultaneous enlargement of the liver and spleen.
Pancytopenia- MedGen UID:
- 18281
- •Concept ID:
- C0030312
- •
- Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Thrombocytosis- MedGen UID:
- 163397
- •Concept ID:
- C0836924
- •
- Disease or Syndrome
Increased numbers of platelets in the peripheral blood.
Microcytic anemia- MedGen UID:
- 1673948
- •Concept ID:
- C5194182
- •
- Disease or Syndrome
A kind of anemia in which the volume of the red blood cells is reduced.
Arthritis- MedGen UID:
- 2043
- •Concept ID:
- C0003864
- •
- Disease or Syndrome
Inflammation of a joint.
Cellulitis- MedGen UID:
- 40174
- •Concept ID:
- C0007642
- •
- Disease or Syndrome
A bacterial infection and inflammation of the skin und subcutaneous tissues.
Elbow flexion contracture- MedGen UID:
- 98367
- •Concept ID:
- C0409338
- •
- Acquired Abnormality
An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.
Sterile arthritis- MedGen UID:
- 1374751
- •Concept ID:
- C4477044
- •
- Disease or Syndrome
An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures.
Cystic acne- MedGen UID:
- 507614
- •Concept ID:
- C0010666
- •
- Disease or Syndrome
A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum.
Allergy- MedGen UID:
- 9370
- •Concept ID:
- C0020517
- •
- Pathologic Function
An allergy is an immune response or reaction to substances that are usually not harmful.
Sterile abscess- MedGen UID:
- 639046
- •Concept ID:
- C0541754
- •
- Acquired Abnormality
An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms.
Acne- MedGen UID:
- 152379
- •Concept ID:
- C0702166
- •
- Disease or Syndrome
A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).
Elevated circulating C-reactive protein concentration- MedGen UID:
- 892906
- •Concept ID:
- C4023452
- •
- Finding
An abnormal elevation of the C-reactive protein level in the blood circulation.
Pyoderma gangrenosum- MedGen UID:
- 43224
- •Concept ID:
- C0085652
- •
- Disease or Syndrome
A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer.
- Abnormality of blood and blood-forming tissues
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system