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1.

Aicardi's syndrome

Aicardi syndrome was classically characterized by a triad of features: agenesis of the corpus callosum, distinctive chorioretinal lacunae, and infantile spasms. However, it is now well recognized that several other important findings are typically present in girls with Aicardi syndrome. Neurologic examination can reveal microcephaly, axial hypotonia, and appendicular hypertonia with spasticity. Moderate to severe global developmental delay and intellectual disability are expected. Many girls with Aicardi syndrome develop seizures prior to age three months, and most before age one year. Ongoing medically refractory epilepsy with a variety of seizure types develops over time. Costovertebral defects are common and can lead to marked scoliosis in up to one third of affected individuals. Other features include characteristic facial features, gastrointestinal difficulties, small hands, vascular malformations and pigmentary lesions of the skin, increased incidence of tumors, lower growth rate after ages seven to nine years, and precocious or delayed puberty. Survival is highly variable, with the mean age of death about 8.3 years and the median age of death about 18.5 years. [from GeneReviews]

MedGen UID:
61236
Concept ID:
C0175713
Disease or Syndrome
2.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
3.

Female Urogenital Diseases and Pregnancy Complications

Pathological processes of the female URINARY TRACT, the reproductive system (GENITALIA, FEMALE), and disorders related to PREGNANCY. [from MeSH]

MedGen UID:
318565
Concept ID:
C1720765
Disease or Syndrome
4.

Partial seizure

Partial seizure. [from NCI]

MedGen UID:
199670
Concept ID:
C0751495
Sign or Symptom
5.

Pathological Conditions, Anatomical

An abnormal structural condition of the human body, usually macroscopic, that is common to a variety of different diseases. [from MeSH]

MedGen UID:
155708
Concept ID:
C0752135
Pathologic Function
6.

Seizures, Sensory

MedGen UID:
155571
Concept ID:
C0751496
Sign or Symptom
7.

Non-epileptic convulsion

MedGen UID:
148227
Concept ID:
C0751056
Sign or Symptom
8.

Tonic - clonic seizures

A generalized tonic-clinic seizure, characterized by loss of consciousness. This type of seizure may be preceded by an aura and is frequently followed by a period of confusion and lethargy (post-ictal state). [from NCI]

MedGen UID:
141670
Concept ID:
C0494475
Sign or Symptom
9.

Olfactory seizure

MedGen UID:
140831
Concept ID:
C0422853
Disease or Syndrome
10.

Somatosensory seizure

MedGen UID:
140830
Concept ID:
C0422850
Pathologic Function
11.

Generalized seizure

clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells; clinical manifestations include abnormal motor, sensory and psychic phenomena; recurrent seizures are usually referred to as EPILEPSY or "seizure disorder." [from CRISP]

MedGen UID:
115963
Concept ID:
C0234533
Disease or Syndrome
12.

Congenital anomaly of nervous system

An abnormality of the nervous system that is present at birth or detected in the neonatal period. [from NCI]

MedGen UID:
105425
Concept ID:
C0497552
Disease or Syndrome
13.

Corpus callosum agenesis

The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis. [from OMIM]

MedGen UID:
104498
Concept ID:
C0175754
Disease or Syndrome
14.

Epileptic vertigo

MedGen UID:
98062
Concept ID:
C0422855
Disease or Syndrome
15.

Gustatory seizure

MedGen UID:
98061
Concept ID:
C0422854
Sign or Symptom
16.

Auditory seizure

MedGen UID:
98060
Concept ID:
C0422852
Pathologic Function
17.

Tonic seizure

Prolonged contraction of the muscles, as the result of an epileptic discharge. [from NCI]

MedGen UID:
82855
Concept ID:
C0270844
Sign or Symptom
18.

Cranioschisis

MedGen UID:
78563
Concept ID:
C0265541
Congenital Abnormality
19.

Visual epilepsy

MedGen UID:
75723
Concept ID:
C0270824
Disease or Syndrome
20.

Clonic seizure

A convulsion marked by alternating contracting and relaxing of the muscles. [from NCI]

MedGen UID:
66708
Concept ID:
C0234535
Disease or Syndrome

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