Bulbospinal muscular atrophy

Preferred Label : Bulbospinal muscular atrophy;

ICD-11 definition : Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting. Sensory neuropathy may also be present. Characteristic clinical signs include facial fasciculations, gynecomastia and testicular atrophy. The disease is caused by an expanded CAG repeat in the first exon of the AR gene (Xq12).;

ICD-11 synonym : Spinal and bulbar muscular atrophy; Kennedy Disease;

Details

Origin ID

1604214898;

Automatic exact mappings (from CISMeF team)
- androgen receptor [HGNC gene]
Currated CISMeF NLP mapping
- Bulbo-Spinal atrophy, X-Linked [MeSH Descriptor]
- Bulbo-Spinal atrophy, X-Linked [MeSH concept]
- 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 [MedDRA LLT]
- Kennedy's disease [DO Concept]
- Kennedy's syndrome [MedDRA LLT]
- Spinal and Bulbar Muscular Atrophy, X-linked 1 [NCIt concept]
False automatic mappings
- androgen receptor [ORDO Gene]
Validated automatic mappings to BTNT
- Spinal and bulbar muscular atrophy, X-linked 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- muscular atrophy, spinal [MeSH Descriptor]
- muscular disorders, atrophic [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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