spastic Paraplegia-50, autosomal recessive

Preferred Label : spastic Paraplegia-50, autosomal recessive;

MeSH note : also known as SPG50; formerly Cerebral Palsy, Spastic Quadriplegic, 3;

Détails

Origin ID

C567858;

UMLS CUI

C2752008;

Currated CISMeF NLP mapping
- Cerebral palsy, spastic quadriplegic, 3 [OMIM Phenotype]
- Severe intellectual disability and progressive spastic paraplegia [ORDO Disease]
- Severe intellectual disability and progressive spastic paraplegia (disorder) [SNOMED CT concept]
- Spastic Paraplegia 50 [NCIt concept]
- Spastic paraplegia 50, autosomal recessive [OMIM Phenotype]
- hereditary spastic paraplegia 50 [DO Concept]
MeSH term(s) associated for indexing
- cerebral palsy [MeSH Descriptor]
- spastic paraplegia, hereditary [MeSH Descriptor]
Record concept(s)
- spastic Paraplegia-50, autosomal recessive [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Severe intellectual disability and progressive spastic paraplegia [ORDO Disease]
- Spastic Paraplegia 50 [NCIt concept]
- Spastic paraplegia 50, autosomal recessive [OMIM Phenotype]
- hereditary spastic paraplegia 50 [DO Concept]

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