Bulbo-Spinal atrophy, X-Linked

Preferred Label : Bulbo-Spinal atrophy, X-Linked;

MeSH definition : An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR.;

MeSH synonym : X-linked bulbospinal muscular atrophy; atrophy, X-Linked Bulbo-Spinal; bulbospinal muscular atrophy, X linked; kennedy disease; spinal and bulbar muscular atrophy, X linked 1; spinal and bulbar muscular atrophy, X-Linked 1; atrophies, X-Linked Bulbo-Spinal; Bulbo-Spinal atrophies, X-Linked; X-Linked Bulbo-Spinal atrophies; X-Linked Bulbo-Spinal atrophy; X linked bulbo spinal atrophy; X linked bulbospinal muscular atrophy; bulbospinal muscular atrophy, X-linked; kennedy spinal and bulbar muscular atrophy; kennedy syndrome; bulbo spinal atrophy, X linked; kennedy's disease; X-Linked spinal and bulbar muscular atrophy; X linked spinal and bulbar muscular atrophy; Spinal and Bulbar Muscular Atrophy; Spinobulbar Muscular Atrophy; Atrophy, Muscular, Spinobulbar; Muscular Atrophy, Spinobulbar; Atrophy, Spinobulbar Muscular; Spinobulbar Muscular Atrophies;

CISMeF synonym : disease, kennedy; disease, kennedy's; kennedys disease; syndrome, kennedy;

MeSH annotation : SPINAL AND BULBAR MUSCULAR ATROPHY see MUSCULAR DISORDERS, ATROPHIC is also available;

Wikipedia link : https://en.wikipedia.org/wiki/Kennedy syndrome;

Details

Origin ID

D055534;

UMLS CUI

C1839259;

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]
Automatic exact mappings (from CISMeF team)
- androgen receptor [ORDO Gene]
- androgen receptor [HGNC gene]
Currated CISMeF NLP mapping
- Bulbospinal muscular atrophy [ICD-11 More detail]
- Bulbospinal muscular atrophy [ORDO Disease]
- Bulbospinal neuronopathy (disorder) [SNOMED CT concept]
- Foster-Kennedy Syndrome [MedDRA Preferred Term]
- Kennedy disease [ORDO Disease]
- Kennedy syndrome [Disease (Nov.)]
- Kennedy's disease [PASCAL descriptor]
- Kennedy's disease [DO Concept]
- Kennedy's disease [MedDRA LLT]
- Kennedy's syndrome [MedDRA LLT]
- Spinal and Bulbar Muscular Atrophy, X-linked 1 [NCIt concept]
- Spinal and bulbar muscular atrophy, X-linked 1 [OMIM Phenotype]
DO Cross reference
- Kennedy's disease [DO Concept]
False automatic mappings
- Foster-Kennedy syndrome [ICD-11 More detail]
Manual NTBT mappings (CISMeF)
- Bulbospinal muscular atrophy of adult [ORDO Disease]
- Genetic neurodegenerative disease [ORDO Disease]
- Male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease [ORDO Disease]
- Rare neurodegenerative disease [ORDO Disease]
Record concept(s)
- Bulbo-Spinal atrophy, X-Linked [MeSH concept]
Related MeSH Supplementary Concept(s)
- bulbospinal neuronopathy, X-linked recessive [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kennedy disease [ORDO Disease]
- Kennedy's disease [MedDRA LLT]
- Kennedy's disease [DO Concept]
- Kennedy's syndrome [MedDRA LLT]
- Spinal and Bulbar Muscular Atrophy, X-linked 1 [NCIt concept]
- Spinal and bulbar muscular atrophy, X-linked 1 [OMIM Phenotype]

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