spastic paraplegia 18, autosomal recessive

Preferred Label : spastic paraplegia 18, autosomal recessive;

MeSH note : also known as SPG18 or IDMDC;

MeSH synonym : intellectual disability, motor dysfunction, and joint contractures;

Details

Origin ID

C567628;

UMLS CUI

C2749936;

Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 18 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 18 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 18 (disorder) [SNOMED CT concept]
- Spastic paraplegia 18, autosomal recessive [OMIM Phenotype]
- hereditary spastic paraplegia 18 [DO Concept]
MeSH term(s) associated for indexing
- contracture [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- spastic paraplegia, hereditary [MeSH Descriptor]
Record concept(s)
- spastic paraplegia 18, autosomal recessive [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 18 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 18 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 18 (disorder) [SNOMED CT concept]
- Spastic paraplegia 18, autosomal recessive [OMIM Phenotype]
- hereditary spastic paraplegia 18 [DO Concept]

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