From HPO
Short distal phalanx of finger- MedGen UID:
- 326590
- •Concept ID:
- C1839829
- •
- Finding
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
Joint hemorrhage- MedGen UID:
- 5479
- •Concept ID:
- C0018924
- •
- Pathologic Function
Hemorrhage occurring within a joint.
Cerebral hemorrhage- MedGen UID:
- 423648
- •Concept ID:
- C2937358
- •
- Pathologic Function
Hemorrhage into the parenchyma of the brain.
Epistaxis- MedGen UID:
- 4996
- •Concept ID:
- C0014591
- •
- Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
Prolonged partial thromboplastin time- MedGen UID:
- 66815
- •Concept ID:
- C0240671
- •
- Finding
Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.
Reduced protein C activity- MedGen UID:
- 96016
- •Concept ID:
- C0398625
- •
- Disease or Syndrome
An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va.
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.
Reduced protein S activity- MedGen UID:
- 892328
- •Concept ID:
- C4025284
- •
- Finding
An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C.
Epiphyseal stippling- MedGen UID:
- 349104
- •Concept ID:
- C1859126
- •
- Finding
The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.
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.
Short nose- MedGen UID:
- 343052
- •Concept ID:
- C1854114
- •
- Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Ecchymosis- MedGen UID:
- 8524
- •Concept ID:
- C0013491
- •
- Finding
A purpuric lesion that is larger than 1 cm in diameter.
Bruising susceptibility- MedGen UID:
- 140849
- •Concept ID:
- C0423798
- •
- Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the integument
- Abnormality of the musculoskeletal system