Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Nervous System Malformations
Hereditary Sensory and Autonomic Neuropathies
...
Neuromuscular Diseases
Peripheral Nervous System Diseases
Polyneuropathies
Hereditary Sensory and Autonomic Neuropathies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Hereditary Sensory and Autonomic Neuropathies
Término preferido
Dysautonomia, Familial
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Tipo
-
mesh:Descriptor
Definición
- An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension (HYPOTENSION, ORTHOSTATIC), fixed pupils, excessive SWEATING, loss of pain and temperature sensation, and absent reflexes. Pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons. (From Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4)
Concepto genérico
Etiquetas alternativas
- Dominant Hereditary Sensory Neuropathy, Type III
- Familial Dysautonomia
- Hereditary Sensory and Autonomic Neuropathy 3
- Hereditary Sensory Neuropathy, Dominant, Type 3
- Hereditary Sensory Neuropathy, Dominant, Type III
- Hereditary Sensory Neuropathy Type 3
- Hereditary Sensory Neuropathy, Type 3, Dominant
- Hereditary-Sensory and Autonomic Neuropathy Type III
- HSAN 3
- HSAN (Hereditary Sensory and Autonomic Neuropathy) Type III
- HSAN III
- HSAN Type III
- HSAN3
- HSN-III
- Neuropathy, Hereditary and Autonomic, Type III
- Neuropathy, Hereditary Sensory And Autonomic, Type III
- Riley-Day Syndrome
- Type 3 Hereditary Sensory Neuropathy, Dominant
- Type III Hereditary Sensory Neuropathy, Dominant
En otras lenguas
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francés
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Déséquilibre neurovégétatif familial
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Dysautonomie familiale de Riley-Day
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Neuropathie héréditaire sensitive et autonome de type 3
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Neuropathie héréditaire sensitive et autonome de type III
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Neuropathie héréditaire sensorielle et autonome de type 3
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NHSA de type 3
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NHSA de type III
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Syndrome de Riley-Day
URI
http://data.loterre.fr/ark:/67375/JVR-NJHB7C6T-0
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