Autosomal dominant spastic paraplegia type 17

Preferred Label : Autosomal dominant spastic paraplegia type 17;

ICD-11 definition : Patients with spastic paraplegia type 17 develop spastic paraplegia associated with distal upper limb weakness and muscle atrophy. Age of onset is variable ranging from the first to seventh decade. The severity of the syndrome varies within families. Weakness is slowly progressive and patients may remain ambulant. The disease is caused by mutation of the BSCL2 gene (11q12.3).;

ICD-11 synonym : Silver syndrome; Distal hereditary motor neuropathy type 5B; Spastic paraplegia-amyotrophy of hands and feet; SPG17; HMN5B;

Details

Origin ID

465472056;

Automatic exact mappings (from CISMeF team)
- BSCL2 lipid droplet biogenesis associated, seipin [ORDO Gene]
Currated CISMeF NLP mapping
- Autosomal dominant spastic paraplegia type 17 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 17 (disorder) [SNOMED CT concept]
- Neuronopathy, distal hereditary motor, autosomal dominant 12 [OMIM Phenotype]
- Spastic paraplegia 17 [MeSH concept]
- Spastic paraplegia 17, autosomal dominant [OMIM Phenotype]
- hereditary spastic paraplegia 17 [DO Concept]
- spastic paraplegia 17 [MeSH Supplementary Concept]
False automatic mappings
- Russell-Silver syndrome (disorder) [SNOMED CT concept]
- Silver-Russell syndrome [MeSH Descriptor]

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