Autosomal dominant proximal spinal muscular atrophy, adult-onset

Preferred Label : Autosomal dominant proximal spinal muscular atrophy, adult-onset;

ICD-11 definition : Autosomal dominant proximal spinal muscular atrophy typically presents in the 5th decade with weakness and atrophy of proximal limb muscles, depressed deep tendon reflexes and normal sensory and bulbar function. It is caused by a mutation in the Vesicle-Trafficking Protein gene (VAFB, 20q13.32).;

Details

Origin ID

718043342;

Currated CISMeF NLP mapping
- Autosomal dominant adult-onset proximal spinal muscular atrophy [ORDO Disease]
- Autosomal dominant adult-onset proximal spinal muscular atrophy (disorder) [SNOMED CT concept]
- Spinal muscular atrophy, late-onset, finkel type [OMIM Phenotype]
- autosomal dominant adult-onset proximal spinal muscular atrophy [DO Concept]
- spinal muscular atrophy, Late-Onset, finkel type [MeSH concept]
- spinal muscular atrophy, Late-Onset, finkel type [MeSH Supplementary Concept]
- spinal muscular atrophy, proximal, adult, autosomal dominant [MeSH concept]

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