From HPO
Hemolytic-uremic syndrome- MedGen UID:
- 42403
- •Concept ID:
- C0019061
- •
- Disease or Syndrome
A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease.
Nephrotic syndrome- MedGen UID:
- 10308
- •Concept ID:
- C0027726
- •
- Disease or Syndrome
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
Renal insufficiency- MedGen UID:
- 332529
- •Concept ID:
- C1565489
- •
- Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
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.
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Hepatosplenomegaly- MedGen UID:
- 9225
- •Concept ID:
- C0019214
- •
- Sign or Symptom
Simultaneous enlargement of the liver and spleen.
Acute liver failure- MedGen UID:
- 58125
- •Concept ID:
- C0162557
- •
- Disease or Syndrome
Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.
Intermittent diarrhea- MedGen UID:
- 66782
- •Concept ID:
- C0239181
- •
- Sign or Symptom
Repeated episodes of diarrhea separated by periods without diarrhea.
Encephalomalacia- MedGen UID:
- 4936
- •Concept ID:
- C0014068
- •
- Disease or Syndrome
Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury.
Hepatic encephalopathy- MedGen UID:
- 5513
- •Concept ID:
- C0019151
- •
- Disease or Syndrome
Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes.
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.
Arachnoid cyst- MedGen UID:
- 86860
- •Concept ID:
- C0078981
- •
- Disease or Syndrome
An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.
Focal impaired awareness seizure- MedGen UID:
- 543022
- •Concept ID:
- C0270834
- •
- Disease or Syndrome
Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.
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.
Autistic behavior- MedGen UID:
- 163547
- •Concept ID:
- C0856975
- •
- Mental or Behavioral Dysfunction
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Thrombocytopenia- MedGen UID:
- 52737
- •Concept ID:
- C0040034
- •
- Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Megakaryocytopenia- MedGen UID:
- 346881
- •Concept ID:
- C1858312
- •
- Finding
A reduced count of megakaryocytes.
Cerebral calcification- MedGen UID:
- 124360
- •Concept ID:
- C0270685
- •
- Finding
The presence of calcium deposition within the cerebrum.
Pleural effusion- MedGen UID:
- 10805
- •Concept ID:
- C0032227
- •
- Disease or Syndrome
The presence of an excessive amount of fluid in the pleural cavity.
Recurrent pneumonia- MedGen UID:
- 195802
- •Concept ID:
- C0694550
- •
- Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Recurrent lower respiratory tract infections- MedGen UID:
- 756211
- •Concept ID:
- C3163798
- •
- Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Abnormal pulmonary interstitial morphology- MedGen UID:
- 1788738
- •Concept ID:
- C5441745
- •
- Anatomical Abnormality
Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis.
Mesangiocapillary glomerulonephritis- MedGen UID:
- 9033
- •Concept ID:
- C0017662
- •
- Disease or Syndrome
A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity
Monocytosis- MedGen UID:
- 39091
- •Concept ID:
- C0085702
- •
- Disease or Syndrome
An increased number of circulating monocytes.
Neutrophilia- MedGen UID:
- 57729
- •Concept ID:
- C0151683
- •
- Finding
Increased number of neutrophils circulating in blood.
Maculopapular exanthema- MedGen UID:
- 98072
- •Concept ID:
- C0423791
- •
- Finding
A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear.
Lymphadenopathy- MedGen UID:
- 96929
- •Concept ID:
- C0497156
- •
- Disease or Syndrome
Enlargment (swelling) of a lymph node.
Extrapulmonary tuberculosis- MedGen UID:
- 671310
- •Concept ID:
- C0679362
- •
- Disease or Syndrome
A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB.
Hemophagocytosis- MedGen UID:
- 163750
- •Concept ID:
- C0876991
- •
- Disease or Syndrome
Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.
Severe viral infection- MedGen UID:
- 479058
- •Concept ID:
- C3277428
- •
- Finding
An unusually severe viral infection.
BCGosis- MedGen UID:
- 823215
- •Concept ID:
- C3830467
- •
- Disease or Syndrome
Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis.
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.
Persistent fever- MedGen UID:
- 1720688
- •Concept ID:
- C0476474
- •
- Pathologic Function
Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks.
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.
Recurrent fever- MedGen UID:
- 811468
- •Concept ID:
- C3714772
- •
- Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.
Elevated circulating C-reactive protein concentration- MedGen UID:
- 892906
- •Concept ID:
- C4023452
- •
- Finding
An abnormal elevation of the C-reactive protein level in the blood circulation.
Increased circulating lactate dehydrogenase concentration- MedGen UID:
- 1377250
- •Concept ID:
- C4477095
- •
- Finding
An elevated level of the enzyme lactate dehydrogenase in the blood circulation.
- Abnormality of blood and blood-forming tissues
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Growth abnormality