neuroacanthocytosis

Preferred Label : neuroacanthocytosis;

MeSH 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.;

MeSH synonym : levine critchley syndrome; levine-critchley syndrome; choreoacanthocytoses; acanthocytoses, chorea; Chorea-Acanthocytoses; Chorea-Acanthocytosis; choreoacanthocytosis; chorea acanthocytosis; acanthocytosis, chorea; chorea acanthocytoses; chorea acanthocytosis syndrome; chorea acanthocytosis syndromes; acanthocytosis with neurologic disorder;

Details

Origin ID

D054546;

UMLS CUI

C0393576;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Chorea acanthocytosis syndrome (disorder) [SNOMED CT concept]
- Chorea-acanthocytosis [MedDRA Preferred Term]
- Choreoacanthocytosis [OMIM Phenotype]
- Choreoacanthocytosis [ORDO Disease]
- Choreoacanthocytosis (disorder) [SNOMED CT concept]
- Neuroacanthocytosis [ICD-11 More detail]
- Neuroacanthocytosis [MedDRA Preferred Term]
- Neuroacanthocytosis [NCIt concept]
- Neuroacanthocytosis [ORDO Disease]
- chorea acanthocytosis syndrome [SNOMED Notion]
- choreaacanthocytosis [DO Concept]
- choreoacanthocytosis [SNOMED Notion]
- neuroacanthocytosis [DO Concept]
DO Cross reference
- choreaacanthocytosis [DO Concept]
- neuroacanthocytosis [DO Concept]
Indexing information
- VPS13A protein, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Huntington disease-like syndrome [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Other epidermal disorder [ORDO Disease]
- Other genetic epidermal disease [ORDO Disease]
- Rare hereditary metabolic disease with peripheral neuropathy [ORDO Disease]
Record concept(s)
- neuroacanthocytosis [MeSH concept]
Related MeSH Supplementary Concept(s)
- neuroacanthocytosis, mcleod type [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Choreoacanthocytosis [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chorea acanthocytosis syndrome (disorder) [SNOMED CT concept]
- Chorea-acanthocytosis [MedDRA Preferred Term]
- Choreoacanthocytosis [OMIM Phenotype]
- Choreoacanthocytosis [ORDO Disease]
- Choreoacanthocytosis [ICD-11 More detail]
- Choreoacanthocytosis (disorder) [SNOMED CT concept]
- Neuroacanthocytosis [ORDO Disease]
- Neuroacanthocytosis [ICD-11 More detail]
- Neuroacanthocytosis [MedDRA Preferred Term]
- Neuroacanthocytosis [NCIt concept]
- chorea acanthocytosis [Disease (Nov.)]
- chorea acanthocytosis syndrome [SNOMED Notion]
- choreaacanthocytosis [DO Concept]
- choreoacanthocytosis [SNOMED Notion]
- neuroacanthocytosis [DO Concept]
Validated automatic mappings to BTNT
- chorea acanthocytosis [Disease (Nov.)]

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