Fitzsimmons-Guilbert syndrome

Preferred Label : Fitzsimmons-Guilbert syndrome;

MeSH synonym : spastic paraplegia associated with brachydactyly type E; fitzsimmons syndrome;

Details

Origin ID

C537938;

UMLS CUI

C0795942;

Currated CISMeF NLP mapping
- Fitzsimmons-guilbert syndrome [OMIM Phenotype]
- Paraplegia-brachydactyly-cone-shaped epiphysis syndrome [ORDO Disease]
Has phenotype(s) (HPO)
- Broad phalanges of the thumb [HPO term]
- Feeding difficulties [HPO term]
- Hypernasal speech [HPO term]
- Slowly progressive spastic paraplegia [HPO term]
MeSH term(s) associated for indexing
- brachydactyly [MeSH Descriptor]
- dysarthria [MeSH Descriptor]
- spastic paraplegia, hereditary [MeSH Descriptor]
Record concept(s)
- Fitzsimmons-Guilbert syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fitzsimmons-guilbert syndrome [OMIM Phenotype]
- Paraplegia-brachydactyly-cone-shaped epiphysis syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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