neuroaxonal dystrophies

Preferred Label : neuroaxonal dystrophies;

MeSH definition : A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927);

MeSH synonym : neuroaxonal dystrophy; dystrophy, neuroaxonal; NBIA2A;

CISMeF synonym : adult neuroaxonal dystrophies; dystrophies, adult neuroaxonal; dystrophies, infantile neuroaxonal; dystrophies, juvenile neuroaxonal; dystrophies, neuroaxonal; infantile neuroaxonal dystrophies; juvenile neuroaxonal dystrophies; neuroaxonal dystrophies, adult; neuroaxonal dystrophies, infantile; neuroaxonal dystrophies, juvenile;

MeSH hyponym : late infantile neuroaxonal dystrophy; adult neuroaxonal dystrophy; infantile neuroaxonal dystrophy; juvenile neuroaxonal dystrophy; Neuroaxonal Dystrophy, Late Infantile; Dystrophy, Juvenile Neuroaxonal; Neuroaxonal Dystrophy, Juvenile; Dystrophy, Adult Neuroaxonal; Neuroaxonal Dystrophy, Adult; Dystrophy, Infantile Neuroaxonal; Neuroaxonal Dystrophy, Infantile; Seitelberger's Disease; Disease, Seitelberger's; Seitelbergers Disease; Neurodegeneration, PLA2G6-Associated; Neurodegeneration, PLA2G6 Associated; PLA2G6-Associated Neurodegeneration; Seitelberger Disease; Disease, Seitelberger; NBIA, PLA2G6-Related; NBIA, PLA2G6 Related; PLA2G6-Related NBIA; Neurodegeneration With Brain Iron Accumulation 2A;

Wikipedia link : https://en.wikipedia.org/wiki/Neuroaxonal dystrophy, late infantile;

Details

Origin ID

D019150;

UMLS CUI

C0338473;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [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]
CISMeF manual mappings
- Neuroaxonal dystrophy (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Infantile Neuroaxonal Dystrophy [NCIt concept]
- Infantile neuroaxonal dystrophy [ORDO Disease]
- Infantile neuroaxonal dystrophy (disorder) [SNOMED CT concept]
- Neuroaxonal Dystrophy [NCIt concept]
- Neuroaxonal dystrophy [PASCAL descriptor]
- Neurodegeneration with brain iron accumulation 2a [OMIM Phenotype]
- PLA2G6-associated neurodegeneration [ORDO Disease]
- infantile neuroaxonal dystrophy [SNOMED Notion]
- neuroaxonal dystrophy [DO Concept]
DO Cross reference
- neuroaxonal dystrophy [DO Concept]
Record concept(s)
- adult neuroaxonal dystrophy [MeSH concept]
- infantile neuroaxonal dystrophy [MeSH concept]
- juvenile neuroaxonal dystrophy [MeSH concept]
- late infantile neuroaxonal dystrophy [MeSH concept]
- neuroaxonal dystrophies [MeSH concept]
Related MeSH Supplementary Concept(s)
- NBIA2B [MeSH Supplementary Concept]
- hunter carpenter macdonald syndrome [MeSH Supplementary Concept]
- karak syndrome [MeSH Supplementary Concept]
- neuroaxonal dystrophy renal tubular acidosis [MeSH Supplementary Concept]
- neurodegeneration due to cerebral folate transport deficiency [MeSH Supplementary Concept]
- neurodegeneration with brain iron accumulation (NBIA) [MeSH Supplementary Concept]
- neuroferritinopathy [MeSH Supplementary Concept]
- osteopetrosis and infantile neuroaxonal dystrophy [MeSH Supplementary Concept]
- schindler disease, type I [MeSH Supplementary Concept]
See also inter- (CISMeF)
- nerve dystrophy [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neuroaxonal Dystrophy [NCIt concept]
- Neuroaxonal dystrophy (disorder) [SNOMED CT concept]
- PLA2G6-associated neurodegeneration [ORDO Disease]
- neuroaxonal dystrophy [DO Concept]
Validated automatic mappings to BTNT
- infantile neuroaxonal dystrophy [Disease (Nov.)]
- neurodegeneration with brain iron accumulation 2a [DO Concept]

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