From HPO
Arthralgia- MedGen UID:
- 13917
- •Concept ID:
- C0003862
- •
- Sign or Symptom
Joint pain.
Asthenia- MedGen UID:
- 2107
- •Concept ID:
- C0004093
- •
- Sign or Symptom
A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.
Raynaud phenomenon- MedGen UID:
- 20474
- •Concept ID:
- C0034735
- •
- Disease or Syndrome
An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease.
Cholestasis- MedGen UID:
- 925
- •Concept ID:
- C0008370
- •
- Disease or Syndrome
Impairment of bile flow due to obstruction in bile ducts.
Gastrointestinal hemorrhage- MedGen UID:
- 8971
- •Concept ID:
- C0017181
- •
- Pathologic Function
Hemorrhage affecting the gastrointestinal tract.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Jaundice- MedGen UID:
- 43987
- •Concept ID:
- C0022346
- •
- Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Biliary cirrhosis- MedGen UID:
- 44182
- •Concept ID:
- C0023892
- •
- Disease or Syndrome
Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.
Steatorrhea- MedGen UID:
- 20948
- •Concept ID:
- C0038238
- •
- Finding
Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.
Calcinosis- MedGen UID:
- 709
- •Concept ID:
- C0006663
- •
- Finding
Formation of calcium deposits in any soft tissue.
Calcinosis cutis- MedGen UID:
- 472879
- •Concept ID:
- C0006664
- •
- Disease or Syndrome
Deposition of calcium in the skin.
Erythema nodosum- MedGen UID:
- 41858
- •Concept ID:
- C0014743
- •
- Disease or Syndrome
An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.
Lymphopenia- MedGen UID:
- 7418
- •Concept ID:
- C0024312
- •
- Disease or Syndrome
A reduced number of lymphocytes in the blood.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Antinuclear antibody positivity- MedGen UID:
- 101792
- •Concept ID:
- C0151480
- •
- Laboratory or Test Result
The presence of autoantibodies in the serum that react against nuclei or nuclear components.
Antimitochondrial antibody positivity- MedGen UID:
- 866704
- •Concept ID:
- C4021051
- •
- Finding
The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria.
Anti-centromere antibody positivity- MedGen UID:
- 904197
- •Concept ID:
- C4280732
- •
- Laboratory or Test Result
The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components.
Elevated erythrocyte sedimentation rate- MedGen UID:
- 57727
- •Concept ID:
- C0151632
- •
- Finding
An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.
Hyperbilirubinemia- MedGen UID:
- 86321
- •Concept ID:
- C0311468
- •
- Finding
An increased amount of bilirubin in the blood.
Elevated circulating alkaline phosphatase concentration- MedGen UID:
- 727252
- •Concept ID:
- C1314665
- •
- Finding
Abnormally increased serum levels of alkaline phosphatase activity.
Elevated circulating hepatic transaminase concentration- MedGen UID:
- 338525
- •Concept ID:
- C1848701
- •
- Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Scleroderma- MedGen UID:
- 3770
- •Concept ID:
- C0011644
- •
- Disease or Syndrome
A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.
Pruritus- MedGen UID:
- 19534
- •Concept ID:
- C0033774
- •
- Sign or Symptom
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
Sclerodactyly- MedGen UID:
- 472893
- •Concept ID:
- C0150988
- •
- Disease or Syndrome
Localized thickening and tightness of the skin of the fingers or toes.
Lip telangiectasia- MedGen UID:
- 347522
- •Concept ID:
- C1857697
- •
- Finding
Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.
Palmar telangiectasia- MedGen UID:
- 866602
- •Concept ID:
- C4020948
- •
- Anatomical Abnormality
The presence of telangiectases on the skin of palm of hand.
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Constitutional symptom