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Items: 12

1.

Pregnancy

MedGen UID:
10895
Concept ID:
C0032961
Organism Function
2.

Infantile neuroaxonal dystrophy

PLA2G6 -associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Infantile neuroaxonal dystrophy (INAD). Atypical neuroaxonal dystrophy (atypical NAD).PLA2G6-related dystonia-parkinsonism. INAD usually begins between ages six months and three years with psychomotor regression or delay, hypotonia, and progressive spastic tetraparesis. Many affected children never learn to walk or lose the ability shortly after attaining it. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid, resulting in severe spasticity, progressive cognitive decline, and visual impairment. Many affected children do not survive beyond their first decade. Atypical NAD shows more phenotypic variability than INAD. In general, onset is in early childhood but can be as late as the end of the second decade. The presenting signs may be gait instability, ataxia, or speech delay and autistic features, which are sometimes the only evidence of disease for a year or more. Strabismus, nystagmus, and optic atrophy are common. Neuropsychiatric disturbances including impulsivity, poor attention span, hyperactivity, and emotional lability are also common. The course is fairly stable during early childhood and resembles static encephalopathy but is followed by neurologic deterioration between ages seven and 12 years.PLA2G6-related dystonia-parkinsonism has a variable age of onset, but most individuals present in early adulthood with gait disturbance or neuropsychiatric changes. Affected individuals consistently develop dystonia and parkinsonism (which may be accompanied by rapid cognitive decline) in their late teens to early twenties. Dystonia is most common in the hands and feet but may be more generalized. The most common features of parkinsonism in these individuals are bradykinesia, resting tremor, rigidity, and postural instability. [from GeneReviews]

MedGen UID:
82852
Concept ID:
C0270724
Disease or Syndrome
3.

Psychotherapeutic agent

A classification of medication that acts on the central nervous system, affecting brain function, level of consciousness, mood, emotions, and behavior. [from NCI]

MedGen UID:
46201
Concept ID:
C0033978
Pharmacologic Substance
4.

Pregnancy Complication

The co-occurrence of pregnancy and a disease. The disease may precede or follow conception and it may or may not have a deleterious effect on the pregnant woman or fetus. [from NCI]

MedGen UID:
46066
Concept ID:
C0032962
Disease or Syndrome
5.

Tranquilizer

A traditional grouping of drugs said to have a soothing or calming effect on mood, thought, or behavior. Included here are the ANTI-ANXIETY AGENTS (minor tranquilizers), ANTIMANIC AGENTS, and the ANTIPSYCHOTIC AGENTS (major tranquilizers). These drugs act by different mechanisms and are used for different therapeutic purposes. [from MeSH]

MedGen UID:
21610
Concept ID:
C0040614
Pharmacologic Substance
6.

Pregnant - planned

MedGen UID:
10899
Concept ID:
C0032992
Finding
7.

Small for gestational age

MedGen UID:
7064
Concept ID:
C0021288
Patient or Disabled Group
8.

CNS DEPRESS

A very loosely defined group of drugs that tend to reduce the activity of the central nervous system. The major groups included here are ethyl alcohol, anesthetics, hypnotics and sedatives, narcotics, and tranquilizing agents (antipsychotics and antianxiety agents). [from MeSH]

MedGen UID:
3305
Concept ID:
C0007681
Pharmacologic Substance
9.

Developmental abnormality

Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. [from NCI]

MedGen UID:
1254
Concept ID:
C0000768
Congenital Abnormality
10.

Central nervous system agent

A class of drugs producing both physiological and psychological effects through a variety of mechanisms. They can be divided into "specific" agents, e.g., affecting an identifiable molecular mechanism unique to target cells bearing receptors for that agent, and "nonspecific" agents, those producing effects on different target cells and acting by diverse molecular mechanisms. Those with nonspecific mechanisms are generally further classed according to whether they produce behavioral depression or stimulation. Those with specific mechanisms are classed by locus of action or specific therapeutic use. (From Gilman AG, et al., Goodman and Gilman's The Pharmacological Basis of Therapeutics, 8th ed, p252) [from MeSH]

MedGen UID:
836
Concept ID:
C0007680
Pharmacologic Substance
11.

Abnormalities, Drug-Induced

Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment. [from MeSH]

MedGen UID:
35
Concept ID:
C0000771
Congenital Abnormality
12.

Seen by family planning service

MedGen UID:
666142
Concept ID:
C0583684
Finding
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