Fitzsimmons-McLachlan-Gilbert syndrome

Preferred Label : Fitzsimmons-McLachlan-Gilbert syndrome;

MeSH synonym : mental retardation with spastic paraplegia and palmoplantar hyperkeratosis;

Détails

Origin ID

C537058;

UMLS CUI

C2745996;

Currated CISMeF NLP mapping
- Impaired intellectual development with spastic paraplegia and palmoplantar hyperkeratosis [OMIM Phenotype]
- Paraplegia-intellectual disability-hyperkeratosis syndrome [ORDO Disease]
- Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- intellectual disability [MeSH Descriptor]
- keratoderma, palmoplantar [MeSH Descriptor]
- spastic paraplegia, hereditary [MeSH Descriptor]
Record concept(s)
- Fitzsimmons-McLachlan-Gilbert syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Impaired intellectual development with spastic paraplegia and palmoplantar hyperkeratosis [OMIM Phenotype]
- Paraplegia-intellectual disability-hyperkeratosis syndrome [ORDO Disease]
- Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) [SNOMED CT concept]

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