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Results: 12

1.

Independent

MedGen UID:
721426
Concept ID:
C1299583
Finding
2.

Aicardi Goutieres syndrome 1

Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical handicap. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with mutation of the AGS-related genes is not yet known. For example, mutation of ADAR has recently been associated with a clinical presentation of acute bilateral striatal necrosis. [from GeneReviews]

MedGen UID:
162912
Concept ID:
C0796126
Disease or Syndrome
3.

Aicardi Goutieres syndrome

Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical handicap. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with mutation of the AGS-related genes is not yet known. For example, mutation of ADAR has recently been associated with a clinical presentation of acute bilateral striatal necrosis. [from GeneReviews]

MedGen UID:
97953
Concept ID:
C0393591
Disease or Syndrome
4.

Finding

The result of an examination or inquiry. [from NCI]

MedGen UID:
66215
Concept ID:
C0243095
Finding
5.

Clinical finding

clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. [from CRISP]

MedGen UID:
19974
Concept ID:
C0037088
Sign or Symptom
6.

Antimicrobial substance

Any substance or process that kills germs (bacteria, viruses, and other microorganisms that can cause infection and disease). [from NCI]

MedGen UID:
209727
Concept ID:
C1136254
Pharmacologic Substance
7.

Vaccinia

The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine. [from MeSH]

MedGen UID:
52964
Concept ID:
C0042214
Disease or Syndrome
8.

Immune status

Nonsusceptibility to the invasive or pathogenic effects of foreign microorganisms or to the toxic effect of antigenic substances. [from MeSH]

MedGen UID:
9426
Concept ID:
C0020964
Finding
9.

Antiviral Agents

Antiviral agents that have a non-specific classification. [from NCI]

MedGen UID:
356
Concept ID:
C0003451
Pharmacologic Substance
10.

Anti-Infective Agents

Substances that prevent infectious agents or organisms from spreading or kill infectious agents in order to prevent the spread of infection. (MeSH) [from NCI]

MedGen UID:
324
Concept ID:
C0003204
Pharmacologic Substance
11.

Positive immunology finding

MedGen UID:
668733
Concept ID:
C0586824
Finding
12.

Positive laboratory finding

MedGen UID:
668724
Concept ID:
C0586815
Finding

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