skeletal dysplasia and progressive central nervous system degeneration, lethal

Preferred Label : skeletal dysplasia and progressive central nervous system degeneration, lethal;

Origin ID

C566514;

UMLS CUI

C1865117;

Currated CISMeF NLP mapping
- Skeletal dysplasia and progressive central nervous system degeneration, lethal [OMIM Phenotype]
MeSH term(s) associated for indexing
- bone diseases, developmental [MeSH Descriptor]
- central nervous system diseases [MeSH Descriptor]
- nerve degeneration [MeSH Descriptor]
Record concept(s)
- skeletal dysplasia and progressive central nervous system degeneration, lethal [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Skeletal dysplasia and progressive central nervous system degeneration, lethal [OMIM Phenotype]