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Results: 1 to 20 of 52

1.

Microdeletion

MedGen UID:
490103
Concept ID:
CN169862
Disease or Syndrome
2.

Severe

A term used to describe cells that look abnormal under a microscope. These cells are more likely to grow and spread quickly than cells in low-grade cancer or in growths that may become cancer. [from NCI]

MedGen UID:
104640
Concept ID:
C0205082
3.

Seizure

the most dramatic type of seizure [from CHV]

MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
4.

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
5.

Seizure Disorders

A disorder characterized by recurrent seizures [from SNOMED CT]

MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
6.

Error occurred: cannot get document summary

ID:
775793

7.

Moderate

Indicates the condition may result in noticable adverse adverse consequences but is unlikely to be life-threatening or cause permanent injury.  [from HL7]

MedGen UID:
525853
Concept ID:
C0205081
8.

Intellectual disability, moderate

Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49. [from HPO]

MedGen UID:
505205
Concept ID:
CN002126
Finding
9.

Global developmental delay

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. [from HPO]

MedGen UID:
504774
Concept ID:
CN001157
Finding
10.

Seizures

MedGen UID:
472115
Concept ID:
CN130037
Disease or Syndrome
11.

Mild

The second level of severity in an ordered list based on a five-level scale of minimal, mild, moderate, marked, and severe. [from NCI]

MedGen UID:
422477
Concept ID:
C2945599
12.

Clinical Significance

A finding that has treatment or management implications for a patient's condition. [from NCI]

MedGen UID:
417419
Concept ID:
C2826293
Finding
13.

Seizure

MedGen UID:
409523
Concept ID:
C1959629
Finding
14.

15q13.3 microdeletion syndrome

Individuals with 15q13.3 microdeletion are at increased risk for a wide range of clinical manifestations including intellectual disability, cardiac malformations, seizures, autism, and schizophrenia; however, the deletion itself does not seem to lead to a clinically recognizable syndrome and a subset of persons with the deletion have no obvious clinical findings. Behavioral problems are common and mainly comprise poor attention span, hyperactivity, mood disorder, and aggressive and/or impulsive behavior. Intellectual disability, observed in about half of the individuals with the common deletion at 15q13.3, is usually mild but can be moderate to severe. [from GeneReviews]

MedGen UID:
393784
Concept ID:
C2677613
Congenital Abnormality
15.

Intellectual disability

MedGen UID:
334384
Concept ID:
C1843367
Finding
16.

Distal

Situated farthest from a point of reference. [from NCI]

MedGen UID:
64375
Concept ID:
C0205108
17.

Proximal

Situated nearest to a point of reference. [from NCI]

MedGen UID:
64374
Concept ID:
C0205107
18.

Intellectual functioning disability

Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabiled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) [from MeSH]

MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
19.

Mental deficiency

MedGen UID:
214593
Concept ID:
C0917816
Mental or Behavioral Dysfunction
20.

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123

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