From HPO
Atherosclerosis- MedGen UID:
- 13948
- •Concept ID:
- C0004153
- •
- Disease or Syndrome
A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow.
Epistaxis- MedGen UID:
- 4996
- •Concept ID:
- C0014591
- •
- Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
Prolonged prothrombin time- MedGen UID:
- 208879
- •Concept ID:
- C0853225
- •
- Finding
Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula
Abnormal bleeding- MedGen UID:
- 264316
- •Concept ID:
- C1458140
- •
- Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
Reduced factor IX activity- MedGen UID:
- 868754
- •Concept ID:
- C4023159
- •
- Finding
Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.
Reduced factor X activity- MedGen UID:
- 892449
- •Concept ID:
- C4024702
- •
- Finding
Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa).
Reduced factor VII activity- MedGen UID:
- 892851
- •Concept ID:
- C4024722
- •
- Finding
Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X.
Cutis laxa- MedGen UID:
- 8206
- •Concept ID:
- C0010495
- •
- Disease or Syndrome
Wrinkled, redundant, inelastic and sagging skin.
Yellow papule- MedGen UID:
- 1373750
- •Concept ID:
- C2033396
- •
- Finding
A papule with yellow color.
Angioid streaks- MedGen UID:
- 1541
- •Concept ID:
- C0002982
- •
- Disease or Syndrome
Angioid streaks are irregular tapering linear breaks in the Bruch membrane that typically emanate from the optic disk (summary by Karacorlu et al., 2002).
Retinal peau d'orange- MedGen UID:
- 1713761
- •Concept ID:
- C5398025
- •
- Finding
A pebbly orange appearance of the fundus that is said to resemble the skin of an orange.
- Abnormality of blood and blood-forming tissues
- Abnormality of the cardiovascular system
- Abnormality of the eye
- Abnormality of the integument