From HPO
Pulmonary embolism- MedGen UID:
- 11027
- •Concept ID:
- C0034065
- •
- Pathologic Function
An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.
Cerebral palsy- MedGen UID:
- 854
- •Concept ID:
- C0007789
- •
- Disease or Syndrome
Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Global developmental delay- MedGen UID:
- 107838
- •Concept ID:
- C0557874
- •
- Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Thrombophilia- MedGen UID:
- 98306
- •Concept ID:
- C0398623
- •
- Disease or Syndrome
An abnormality of coagulation associated with an increased risk of thrombosis.
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.
Superficial thrombophlebitis- MedGen UID:
- 266934
- •Concept ID:
- C1510431
- •
- Disease or Syndrome
Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).
Recurrent deep vein thrombosis- MedGen UID:
- 319764
- •Concept ID:
- C1735901
- •
- Pathologic Function
Repeated episodes of the formation of a blot clot in a deep vein.
Purpura- MedGen UID:
- 19584
- •Concept ID:
- C0034150
- •
- Disease or Syndrome
Purpura (from Latin
Vitreous hemorrhage- MedGen UID:
- 12119
- •Concept ID:
- C0042909
- •
- Pathologic Function
Bleeding within the vitreous compartment of the eye.
- Abnormality of blood and blood-forming tissues
- Abnormality of the cardiovascular system
- Abnormality of the eye
- Abnormality of the integument
- Abnormality of the nervous system