From HPO
Limb pain- MedGen UID:
- 10540
- •Concept ID:
- C0030196
- •
- Sign or Symptom
Chronic pain in the limbs with no clear focal etiology.
Hematuria- MedGen UID:
- 5488
- •Concept ID:
- C0018965
- •
- Disease or Syndrome
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Proteinuria- MedGen UID:
- 10976
- •Concept ID:
- C0033687
- •
- Finding
Increased levels of protein in the urine.
Raynaud phenomenon- MedGen UID:
- 20474
- •Concept ID:
- C0034735
- •
- Disease or Syndrome
An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease.
Stroke disorder- MedGen UID:
- 52522
- •Concept ID:
- C0038454
- •
- Disease or Syndrome
Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.
Vasculitis in the skin- MedGen UID:
- 488809
- •Concept ID:
- C0262988
- •
- Disease or Syndrome
A type of vasculitis (inflammation of blood vessel walls) that affects skeletal muscle tissue.
Punctate vasculitis skin lesions- MedGen UID:
- 479323
- •Concept ID:
- C3277693
- •
- Finding
Gastrointestinal hemorrhage- MedGen UID:
- 8971
- •Concept ID:
- C0017181
- •
- Pathologic Function
Hemorrhage affecting the gastrointestinal tract.
Micronodular cirrhosis- MedGen UID:
- 75640
- •Concept ID:
- C0267812
- •
- Disease or Syndrome
A type of cirrhosis characterized by the presence of small regenerative nodules.
Apraxia- MedGen UID:
- 8166
- •Concept ID:
- C0003635
- •
- Mental or Behavioral Dysfunction
A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.
Dysarthria- MedGen UID:
- 8510
- •Concept ID:
- C0013362
- •
- Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Hemiparesis- MedGen UID:
- 6783
- •Concept ID:
- C0018989
- •
- Finding
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.
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.
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.
Atypical behavior- MedGen UID:
- 535345
- •Concept ID:
- C0233514
- •
- Mental or Behavioral Dysfunction
Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
Diminished ability to concentrate- MedGen UID:
- 65900
- •Concept ID:
- C0235198
- •
- Finding
Being unable to focus one's attention or mental effort on a particular object or activity.
Dementia- MedGen UID:
- 99229
- •Concept ID:
- C0497327
- •
- Mental or Behavioral Dysfunction
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Lower limb hyperreflexia- MedGen UID:
- 322973
- •Concept ID:
- C1836696
- •
- Finding
Abnormal periventricular white matter morphology- MedGen UID:
- 435926
- •Concept ID:
- C2673431
- •
- Finding
A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.
Central nervous system degeneration- MedGen UID:
- 479317
- •Concept ID:
- C3277687
- •
- Finding
Progressive forgetfulness- MedGen UID:
- 479318
- •Concept ID:
- C3277688
- •
- Finding
Edema- MedGen UID:
- 4451
- •Concept ID:
- C0013604
- •
- Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Elevated erythrocyte sedimentation rate- MedGen UID:
- 57727
- •Concept ID:
- C0151632
- •
- Finding
An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.
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.
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.
Retinal hemorrhage- MedGen UID:
- 11210
- •Concept ID:
- C0035317
- •
- Pathologic Function
Hemorrhage occurring within the retina.
Retinal exudate- MedGen UID:
- 116111
- •Concept ID:
- C0240897
- •
- Finding
Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina.
Macular edema- MedGen UID:
- 75732
- •Concept ID:
- C0271051
- •
- Disease or Syndrome
Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease.
Progressive visual loss- MedGen UID:
- 326867
- •Concept ID:
- C1839364
- •
- Finding
A reduction of previously attained ability to see.
Visual impairment- MedGen UID:
- 777085
- •Concept ID:
- C3665347
- •
- Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the nervous system
- Constitutional symptom