From HPO
Transient ischemic attack- MedGen UID:
- 853
- •Concept ID:
- C0007787
- •
- Disease or Syndrome
A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit.
Spinal arteriovenous malformation- MedGen UID:
- 83876
- •Concept ID:
- C0348023
- •
- Congenital Abnormality
Right-to-left shunt- MedGen UID:
- 98446
- •Concept ID:
- C0428871
- •
- Finding
Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left.
High-output congestive heart failure- MedGen UID:
- 196646
- •Concept ID:
- C0742747
- •
- Disease or Syndrome
A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others.
Cerebral arteriovenous malformation- MedGen UID:
- 214590
- •Concept ID:
- C0917804
- •
- Congenital Abnormality
Arteriovenous malformations of the brain are tortuous, morphologically abnormal vascular channels between arteries and veins that lack an intervening capillary network, allowing high-pressure arterial blood from feeding arteries to shunt directly into the venous outflow system. These vascular malformations occur in approximately 15 per 100,000 persons and are a leading cause of hemorrhagic stroke in young adults and children (summary by Nikolaev et al., 2018).
Pulmonary arteriovenous malformation- MedGen UID:
- 341826
- •Concept ID:
- C1857690
- •
- Anatomical Abnormality
Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins.
Venous varicosities of celiac and mesenteric vessels- MedGen UID:
- 341828
- •Concept ID:
- C1857692
- •
- Finding
Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein.
Arteriovenous fistulas of celiac and mesenteric vessels- MedGen UID:
- 387886
- •Concept ID:
- C1857693
- •
- Anatomical Abnormality
Cerebral hemorrhage- MedGen UID:
- 423648
- •Concept ID:
- C2937358
- •
- Pathologic Function
Hemorrhage into the parenchyma of the brain.
Dilatation of mesenteric artery- MedGen UID:
- 1381896
- •Concept ID:
- C4476552
- •
- Anatomical Abnormality
Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery .
Dilatation of celiac artery- MedGen UID:
- 1393390
- •Concept ID:
- C4477059
- •
- Anatomical Abnormality
Abnormal outpouching or sac-like dilatation in the wall of the celiac artery.
Subarachnoid hemorrhage- MedGen UID:
- 11625
- •Concept ID:
- C0038525
- •
- Disease or Syndrome
Hemorrhage occurring between the arachnoid mater and the pia mater.
Migraine- MedGen UID:
- 57451
- •Concept ID:
- C0149931
- •
- Disease or Syndrome
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
Ischemic stroke- MedGen UID:
- 215292
- •Concept ID:
- C0948008
- •
- Disease or Syndrome
A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. It is said to be the third leading cause of death in the United States. Gunel and Lifton (1996) noted that about 20% of strokes are hemorrhagic, resulting in bleeding into the brain. Ischemic strokes, resulting from vascular occlusion, account for the majority of strokes.
Bersano et al. (2008) reviewed genetic polymorphisms that have been implicated in the development of stroke. Candidate genes include those involved in hemostasis (see, e.g., F5; 612309), the renin-angiotensin-aldosterone system (see, e.g., ACE; 106180), homocysteine (see, e.g., MTHFR; 607093), and lipoprotein metabolism (see, e.g., APOE; 107741).
See also hemorrhagic stroke, or intracerebral hemorrhage (ICH; 614519).
Spontaneous, recurrent epistaxis- MedGen UID:
- 816045
- •Concept ID:
- C3809715
- •
- Finding
Dyspnea- MedGen UID:
- 3938
- •Concept ID:
- C0013404
- •
- Sign or Symptom
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
Tongue telangiectasia- MedGen UID:
- 871382
- •Concept ID:
- C4025878
- •
- Anatomical Abnormality
Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue.
Cyanosis- MedGen UID:
- 1189
- •Concept ID:
- C0010520
- •
- Sign or Symptom
Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.
Conjunctival telangiectasia- MedGen UID:
- 66780
- •Concept ID:
- C0239105
- •
- Disease or Syndrome
The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.
Lip telangiectasia- MedGen UID:
- 347522
- •Concept ID:
- C1857697
- •
- Finding
Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.
Palate telangiectasia- MedGen UID:
- 387887
- •Concept ID:
- C1857699
- •
- Finding
The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate.
Nasal mucosa telangiectasia- MedGen UID:
- 871359
- •Concept ID:
- C4025853
- •
- Finding
Telangiectasia of the nasal mucosa.
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of the cardiovascular system
- Abnormality of the integument
- Abnormality of the nervous system
- Abnormality of the respiratory system