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Items: 7

1.

Inflammation

A microscopic finding indicating the presence of acute, subacute or chronic inflammation in a tissue sample. [from NCI]

MedGen UID:
7072
Concept ID:
C0021368
Pathologic Function
2.

Fetal alcohol syndrome

Alcohol can harm your baby at any stage during a pregnancy. That includes the earliest stages before you even know you are pregnant. Drinking alcohol can cause a group of conditions called fetal alcohol spectrum disorders (FASDs). Effects can include physical and behavioral problems such as trouble with. -Learning and remembering. -Understanding and following directions. -Controlling emotions. -Communicating and socializing. -Daily life skills, such as feeding and bathing. Fetal alcohol syndrome is the most serious type of FASD. People with fetal alcohol syndrome have facial abnormalities, including wide-set and narrow eyes, growth problems and nervous system abnormalities. FASDs last a lifetime. There is no cure for FASDs. Treatments can help. These include medicines to help with some symptoms and behavior therapy. No one treatment is right for every child. Centers for Disease Control and Prevention.  [from MedlinePlus]

MedGen UID:
8820
Concept ID:
C0015923
Disease or Syndrome
3.

Vascular disorder

The vascular system is the body's network of blood vessels. It includes the arteries, veins and capillaries that carry blood to and from the heart. Problems of the vascular system are common and can be serious. Arteries can become thick and stiff, a problem called atherosclerosis. Blood clots can clog vessels and block blood flow to the heart or brain. Weakened blood vessels can burst, causing bleeding inside the body. . You are more likely to have vascular disease as you get older. Other factors that make vascular disease more likely include. - Family history of vascular or heart diseases. - Pregnancy. - Illness or injury . - Long periods of sitting or standing still. - Any condition that affects the heart and blood vessels, such as diabetes or high cholesterol . - Smoking . - Obesity . Losing weight, eating healthy foods, being active and not smoking can help vascular disease. Other treatments include medicines and surgery.  [from MedlinePlus]

MedGen UID:
22621
Concept ID:
C0042373
Disease or Syndrome
4.

Encephalitis

Encephalitis is an inflammation of the brain. Usually the cause is a viral infection, but bacteria can also cause it. It can be mild or severe. Most cases are mild. You may have flu-like symptoms. With a mild case, you may just need rest, plenty of fluids, and a pain reliever. Severe cases need immediate treatment. Symptoms of severe cases include. -Severe headache. -Sudden fever. -Drowsiness . -Vomiting. -Confusion. -Seizures. In babies, additional symptoms may include constant crying, poor feeding, body stiffness, and bulging in the soft spots of the skull. Severe cases may require a stay in the hospital. Treatments include oral and intravenous medicines to reduce inflammation and treat infection. Patients with breathing difficulties may need artificial respiration. Some people may need physical, speech, and occupational therapy once the illness is under control. . NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
4027
Concept ID:
C0014038
Disease or Syndrome
5.

Disorder of the central nervous system

A structural abnormality of the central nervous system. [from HPO]

MedGen UID:
3306
Concept ID:
C0007682
Disease or Syndrome
6.

Disorder of cardiovascular system

Any abnormality of the cardiovascular system. [from HPO]

MedGen UID:
2848
Concept ID:
C0007222
Disease or Syndrome
7.

Severe neonatal-onset encephalopathy with microcephaly

MECP2-related disorders in females include classic Rett syndrome, variant Rett syndrome, and mild learning disabilities. A pathogenic MECP2 variant in a male is presumed to most often be lethal; phenotypes in rare surviving males are primarily severe neonatal encephalopathy and manic-depressive psychosis, pyramidal signs, Parkinsonian, and macro-orchidism (PPM-X syndrome). Classic Rett syndrome, a progressive neurodevelopmental disorder primarily affecting girls, is characterized by apparently normal psychomotor development during the first six to 18 months of life, followed by a short period of developmental stagnation, then rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. Additional findings include fits of screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly. Atypical Rett syndrome is observed increasingly as MECP2 variants are identified in individuals previously diagnosed with: clinically suspected but molecularly unconfirmed Angelman syndrome; intellectual disability with spasticity or tremor; mild learning disability; or (rarely) autism. Severe neonatal encephalopathy resulting in death before age two years is the most common phenotype observed in affected males. [from GeneReviews]

MedGen UID:
409616
Concept ID:
C1968556
Disease or Syndrome
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