From HPO
Chest pain- MedGen UID:
- 2992
- •Concept ID:
- C0008031
- •
- Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.
Clubbing- MedGen UID:
- 57692
- •Concept ID:
- C0149651
- •
- Anatomical Abnormality
Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
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.
Pulmonary hemorrhage- MedGen UID:
- 57732
- •Concept ID:
- C0151701
- •
- Pathologic Function
Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease.
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.
Hepatic arteriovenous malformation- MedGen UID:
- 101044
- •Concept ID:
- C0520557
- •
- Congenital Abnormality
A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures in the liver.
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.
Gastrointestinal arteriovenous malformation- MedGen UID:
- 148166
- •Concept ID:
- C0744321
- •
- Anatomical Abnormality
An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract.
Gastrointestinal angiodysplasia- MedGen UID:
- 163130
- •Concept ID:
- C0854242
- •
- Disease or Syndrome
Dysplasia affecting the vasculature of the gastrointestinal tract.
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.
Pulmonary arterial hypertension- MedGen UID:
- 425404
- •Concept ID:
- C2973725
- •
- Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
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.
Gastrointestinal hemorrhage- MedGen UID:
- 8971
- •Concept ID:
- C0017181
- •
- Pathologic Function
Hemorrhage affecting the gastrointestinal tract.
Hematemesis- MedGen UID:
- 6770
- •Concept ID:
- C0018926
- •
- Sign or Symptom
The vomiting of blood.
Hematochezia- MedGen UID:
- 5481
- •Concept ID:
- C0018932
- •
- Disease or Syndrome
The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.
Cirrhosis of liver- MedGen UID:
- 7368
- •Concept ID:
- C0023890
- •
- Disease or Syndrome
A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
Melena- MedGen UID:
- 7523
- •Concept ID:
- C0025222
- •
- Pathologic Function
The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.
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.
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).
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Polycythemia- MedGen UID:
- 18552
- •Concept ID:
- C0032461
- •
- Disease or Syndrome
Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.
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.
Hemoptysis- MedGen UID:
- 5502
- •Concept ID:
- C0019079
- •
- Sign or Symptom
Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.
Hemothorax- MedGen UID:
- 5510
- •Concept ID:
- C0019123
- •
- Pathologic Function
The presence of blood in the pleural space.
Exertional dyspnea- MedGen UID:
- 68549
- •Concept ID:
- C0231807
- •
- Sign or Symptom
Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.
Hypoxemia- MedGen UID:
- 152145
- •Concept ID:
- C0700292
- •
- Finding
An abnormally low level of blood oxygen.
Restrictive ventilatory defect- MedGen UID:
- 478856
- •Concept ID:
- C3277226
- •
- Finding
A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.
Reduced FEV1/FVC ratio- MedGen UID:
- 898646
- •Concept ID:
- C4280729
- •
- Finding
Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).
Brain abscess- MedGen UID:
- 2335
- •Concept ID:
- C0006105
- •
- Disease or Syndrome
A collection of pus, immune cells, and other material in the brain.
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.
Telangiectasia- MedGen UID:
- 21088
- •Concept ID:
- C0039446
- •
- Finding
Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.
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.
Gastrointestinal telangiectasia- MedGen UID:
- 451085
- •Concept ID:
- C1619711
- •
- Disease or Syndrome
Telangiectasia affecting the gastrointestinal tract.
Nail bed telangiectasia- MedGen UID:
- 373904
- •Concept ID:
- C1838167
- •
- Finding
Telangiectases in the area of the nails.
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.
Fingerpad telangiectases- MedGen UID:
- 396091
- •Concept ID:
- C1861248
- •
- Finding
Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers.
Telangiectasia of the skin- MedGen UID:
- 867629
- •Concept ID:
- C4022018
- •
- Finding
Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.
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 limbs
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Constitutional symptom