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Items: 1 to 20 of 42

1.

Neurofibromatosis-Noonan syndrome

A variant of neurofibromatosis type 1 characterised by the combination of features of neurofibromatosis type 1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome, with features such as short stature, typical facial features, congenital heart defects and unusual pectus deformity. [from SNOMEDCT_US]

MedGen UID:
419089
Concept ID:
C2931482
Disease or Syndrome
2.

Neurofibromas

Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves. You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. Once you have it, you can pass it along to your children. Usually the tumors are benign, but sometimes they can become cancerous. There are three types of neurofibromatosis: . -Type 1 (NF1) causes skin changes and deformed bones. It usually starts in childhood. Sometimes the symptoms are present at birth. -Type 2 (NF2) causes hearing loss, ringing in the ears, and poor balance. Symptoms often start in the teen years. -Schwannomatosis causes intense pain. It is the rarest type. Doctors diagnose the different types based on the symptoms. Genetic testing is also used to diagnose NF1 and NF2. There is no cure. Treatment can help control symptoms. Depending on the type of disease and how serious it is, treatment may include surgery to remove tumors, radiation therapy, and medicines. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
58149
Concept ID:
C0162678
Neoplastic Process
3.

Neurofibromatosis, type 1

Neurofibromatosis 1 (NF1) is characterized by multiple café-au-lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include plexiform neurofibromas, optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy. [from GeneReviews]

MedGen UID:
18013
Concept ID:
C0027831
Neoplastic Process
4.

Neurodevelopmental disorder

Neurodevelopmental disorder is a behavioural and cognitive disorder with onset during the developmental period that involve impaired or aberrant development of intellectual, motor, or social functions. [from SNOMEDCT_US]

MedGen UID:
453059
Concept ID:
C1535926
Mental or Behavioral Dysfunction
5.

Aminobutyric Acid

MedGen UID:
113108
Concept ID:
C0220780
Amino Acid, Peptide, or Protein; Pharmacologic Substance
6.

Oxygen

An element with atomic symbol O, atomic number 8, and atomic weight 16. [from NCI]

MedGen UID:
45267
Concept ID:
C0030054
Biologically Active Substance; Element, Ion, or Isotope; Pharmacologic Substance
7.

Indicated

MedGen UID:
731837
Concept ID:
C1444656
Finding
8.

Resonance

MedGen UID:
534094
Concept ID:
C0231881
Finding
9.

Ability to balance

The maintenance of a stable, upright body position. [from NCI]

MedGen UID:
154340
Concept ID:
C0560184
Finding
10.

Cognitive impairment

Abnormality in the process of thought including the ability to process information. [from HPO]

MedGen UID:
151917
Concept ID:
C0683322
Mental or Behavioral Dysfunction
11.

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
12.

Aminobutyrates

Derivatives of BUTYRIC ACID that contain one or more amino groups attached to the aliphatic structure. Included under this heading are a broad variety of acid forms, salts, esters, and amides that include the aminobutryrate structure. [from MeSH]

MedGen UID:
473507
Concept ID:
C1979618
Organic Chemical; Pharmacologic Substance
13.

Perineurioma

A rare, almost always benign tumor composed entirely of neoplastic perineurial cells. It may occur in the soft tissues, intraneurally or in mucosal sites. [from NCI]

MedGen UID:
199712
Concept ID:
C0751691
Neoplastic Process
14.

Inborn genetic diseases

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
Disease or Syndrome
15.

Heredodegenerative Disorders, Nervous System

Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems. [from MeSH]

MedGen UID:
155945
Concept ID:
C0751870
Disease or Syndrome
16.

Gammalon

MedGen UID:
147623
Concept ID:
C0733457
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
17.

Neurodegenerative disease

Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures. [from MeSH]

MedGen UID:
101195
Concept ID:
C0524851
Disease or Syndrome
18.

Neurocutaneous syndrome

A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. [from MeSH]

MedGen UID:
82706
Concept ID:
C0265316
Disease or Syndrome
19.

Nerve Sheath Neoplasm

Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category. [from MeSH]

MedGen UID:
64639
Concept ID:
C0206727
Neoplastic Process
20.

Neurofibroma

A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016) [from MeSH]

MedGen UID:
45058
Concept ID:
C0027830
Neoplastic Process
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