Spastic Paraplegia 11

Preferred Label : Spastic Paraplegia 11;

NCIt synonyms : HSP-TCC; Spastic Paraplegia, Autosomal Recessive, Complicated, with Thin Corpus Callosum;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the SPG11 gene, encoding spatacsin. It is a complicated sub-type of hereditary spastic paraplegia that has varying neurologic manifestations in addition to spasticity.;

Details

Origin ID

C148317;

UMLS CUI

C1858479;

Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 11 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 11 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 11 (disorder) [SNOMED CT concept]
- Nakamura Osame syndrome [MeSH concept]
- Spastic paraplegia 11, autosomal recessive [OMIM Phenotype]
- Spastic paraplegia 11, autosomal recessive [MeSH concept]
- hereditary spastic paraplegia 11 [DO Concept]
- nakamura osame syndrome [MeSH Supplementary Concept]
- spastic paraplegia 11, autosomal recessive [MeSH Supplementary 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)
- Spastic paraplegia 11, autosomal recessive [OMIM Phenotype]
- Spastic paraplegia 11, autosomal recessive [MeSH concept]
- spastic paraplegia 11, autosomal recessive [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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