spastic paraplegia 17

Preferred Label : spastic paraplegia 17;

MeSH synonym : silver syndrome; spastic paraplegia with amyotrophy of hands and feet; silver spastic paraplegia syndrome; Spg17;

Details

Origin ID

C536644;

UMLS CUI

C2931276;

Automatic exact mappings (from CISMeF team)
- BSCL2 lipid droplet biogenesis associated, seipin [ORDO Gene]
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome [ORDO Disease]
- Russell-Silver syndrome (disorder) [SNOMED CT concept]
- Silvex (substance) [SNOMED CT concept]
- silvex [SNOMED Notion]
CISMeF manual mappings
- Autosomal dominant spastic paraplegia type 17 [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal dominant spastic paraplegia type 17 [ICD-11 More detail]
- Autosomal dominant spastic paraplegia type 17 (disorder) [SNOMED CT concept]
- Neuronopathy, distal hereditary motor, type vb [OMIM Phenotype]
- Spastic paraplegia 17, autosomal dominant [OMIM Phenotype]
- hereditary spastic paraplegia 17 [DO Concept]
MeSH term(s) associated for indexing
- spastic paraplegia, hereditary [MeSH Descriptor]
Record concept(s)
- Spastic paraplegia 17 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant spastic paraplegia type 17 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 17 (disorder) [SNOMED CT concept]
- Spastic paraplegia 17, autosomal dominant [OMIM Phenotype]

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