Spastic Paraplegia 3A

Preferred Label : Spastic Paraplegia 3A;

NCIt synonyms : Strumpell Disease;

NCIt definition : An autosomal dominant subtype of hereditary spastic paraplegia caused by mutation(s) in the ATL1 gene, encoding atlastin-1.;

Details

Origin ID

C142893;

UMLS CUI

C2931355;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant spastic paraplegia type 3 [ORDO Disease]
- Hereditary spastic paraplegia [MedDRA Preferred Term]
- Hereditary spastic paraplegia (disorder) [SNOMED CT concept]
- Spastic paraplegia 3, autosomal dominant [OMIM Phenotype]
- spastic paraplegia 3, autosomal dominant [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Strumpell's disease [MedDRA LLT]
- hereditary spastic paraplegia 3A [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant spastic paraplegia type 3 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 3 [ICD-11 More detail]
- Autosomal dominant spastic paraplegia type 3 (disorder) [SNOMED CT concept]
- Spastic paraplegia 3, autosomal dominant [OMIM Phenotype]
- Spastic paraplegia 3, autosomal dominant [MeSH concept]
- Strumpell's disease [MedDRA LLT]
- spastic paraplegia 3, autosomal dominant [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Autosomal dominant spastic paraplegia type 3 (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- ATL1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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