spastic paraplegia 5a, autosomal recessive

Preferred Label : spastic paraplegia 5a, autosomal recessive;

MeSH note : also known as SPG5a; associated with mutation in the CYP7B1gene;

Origin ID

C564811;

UMLS CUI

C1849115;

Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 5A [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 5A [ORDO Disease]
- Autosomal recessive spastic paraplegia type 5A (disorder) [SNOMED CT concept]
- Spastic Paraplegia 5A [NCIt concept]
- Spastic paraplegia 5a, autosomal recessive [OMIM Phenotype]
- hereditary spastic paraplegia 5A [DO Concept]
- spastic paraplegia 5A [Disease (Nov.)]
MeSH term(s) associated for indexing
- spastic paraplegia, hereditary [MeSH Descriptor]
Record concept(s)
- spastic paraplegia 5a, autosomal recessive [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 5A (disorder) [SNOMED CT concept]
- Spastic Paraplegia 5A [NCIt concept]
- Spastic paraplegia 5a, autosomal recessive [OMIM Phenotype]