Concept information
Preferred term
Neuroacanthocytosis
Type
-
mesh:Descriptor
Definition
- An inherited autosomal disorder that is characterized by neurodegeneration; orofacial and buccal DYSKINESIAS; CHOREA; and thorny-looking red cells (ACANTHOCYTES). This disorder is due to mutations of chorein which is important in protein trafficking and is encoded by Vps13a on chromosome 9q21.
Broader concept
Entry terms
- Acanthocytosis with Neurologic Disorder
- Chorea Acanthocytosis
- Chorea-Acanthocytosis
- Chorea Acanthocytosis Syndrome
- Choreoacanthocytosis
- Levine-Critchley Syndrome
Allowable Qualifier(s)
- blood (Qualifier)
- cerebrospinal fluid (Qualifier)
- chemically induced (Qualifier)
- classification (Qualifier)
- complications (Qualifier)
- diagnosis (Qualifier)
- diagnostic imaging (Qualifier)
- diet therapy (Qualifier)
- drug therapy (Qualifier)
- economics (Qualifier)
- embryology (Qualifier)
- enzymology (Qualifier)
- epidemiology (Qualifier)
- ethnology (Qualifier)
- etiology (Qualifier)
- genetics (Qualifier)
- history (Qualifier)
- immunology (Qualifier)
- metabolism (Qualifier)
- microbiology (Qualifier)
- mortality (Qualifier)
- nursing (Qualifier)
- parasitology (Qualifier)
- pathology (Qualifier)
- physiopathology (Qualifier)
- prevention & control (Qualifier)
- psychology (Qualifier)
- radiotherapy (Qualifier)
- rehabilitation (Qualifier)
- surgery (Qualifier)
- therapy (Qualifier)
- urine (Qualifier)
- veterinary (Qualifier)
- virology (Qualifier)
In other languages
-
French
-
Acanthocytose chorée
-
Chorée acanthocytose
-
Choréo-acanthocytose
-
Choréoacanthocytose
-
Syndrome de Levine-Critchley
URI
http://data.loterre.fr/ark:/67375/JVR-FR8VQLJ0-7
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