roy maroteaux kremp syndrome

Preferred Label : roy maroteaux kremp syndrome;

MeSH synonym : metaphyseal modeling abnormality, skin lesions, and spastic paraplegia;

Origin ID

C535875;

UMLS CUI

C1855164;

Currated CISMeF NLP mapping
- Metaphyseal modeling abnormality, skin lesions, and spastic paraplegia [OMIM Phenotype]
MeSH term(s) associated for indexing
- nervous system diseases [MeSH Descriptor]
- osteopetrosis [MeSH Descriptor]
- skin diseases [MeSH Descriptor]
- spastic paraplegia, hereditary [MeSH Descriptor]
Record concept(s)
- Roy Maroteaux Kremp syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Metaphyseal modeling abnormality, skin lesions, and spastic paraplegia [OMIM Phenotype]