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Items: 13

1.

Cerebral Cavernous Malformation

A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur. [from NCI]

MedGen UID:
418825
Concept ID:
C2919945
Anatomical Abnormality
2.

Cerebral cavernous malformation

Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single layer of endothelium without mature vessel wall elements or normal intervening brain parenchyma. The diameter of CCMs ranges from a few millimeters to several centimeters. CCMs increase or decrease in size and increase in number over time. Hundreds of lesions may be identified, depending on the person’s age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades with findings such as seizures, focal neurologic deficits, nonspecific headaches, and cerebral hemorrhage. Up to 50% of individuals with FCCM remain symptom free throughout their lives. Cutaneous vascular lesions are found in 9% of those with familial cerebral cavernous malformations (FCCM; see Diagnosis/testing) and retinal vascular lesions in almost 5%. [from GTR]

MedGen UID:
349362
Concept ID:
C1861784
3.

Stroke

A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810) [from MeSH]

MedGen UID:
52522
Concept ID:
C0038454
Disease or Syndrome
4.

Seizures

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 MeSH]

MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
5.

Seizures

MedGen UID:
851405
Concept ID:
CN232558
Disease or Syndrome
6.

Cerebral cavernous malformations 2

Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single layer of endothelium without mature vessel wall elements or normal intervening brain parenchyma. The diameter of CCMs ranges from a few millimeters to several centimeters. CCMs increase or decrease in size and increase in number over time. Hundreds of lesions may be identified, depending on the person’s age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades with findings such as seizures, focal neurologic deficits, nonspecific headaches, and cerebral hemorrhage. Up to 50% of individuals with FCCM remain symptom free throughout their lives. Cutaneous vascular lesions are found in 9% of those with familial cerebral cavernous malformations (FCCM; see Diagnosis/testing) and retinal vascular lesions in almost 5%. [from GTR]

MedGen UID:
400438
Concept ID:
C1864041
Disease or Syndrome
7.

Stroke

MedGen UID:
340407
Concept ID:
C1849743
8.

Pathogenesis

The pathologic, physiologic, or biochemical mechanism resulting in the development of a disease or morbid process. [from NCI]

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function
9.

Cerebral hemorrhage

An acute episode of focal or global cerebral or spinal dysfunction caused by intraparenchymal, intraventricular, or subarachnoid hemorrhage. [from NCI]

MedGen UID:
108210
Concept ID:
C0553692
Pathologic Function
10.

Abnormality of the vasculature

An abnormality of the vasculature. [from HPO]

MedGen UID:
66032
Concept ID:
C0241657
Finding
11.

Seizure Disorders

A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. [from NCI]

MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
12.

Vascular Malformations, Brain

MedGen UID:
155713
Concept ID:
C0752159
Anatomical Abnormality
13.

Movement partial seizure

MedGen UID:
548722
Concept ID:
C0278195
Disease or Syndrome
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