polycystic kidney disease, potter type I, with microbrachycephaly, hypertelorism, and brachymelia

Preferred Label : polycystic kidney disease, potter type I, with microbrachycephaly, hypertelorism, and brachymelia;

Origin ID

C564881;

UMLS CUI

C1849762;

Automatic exact mappings (from CISMeF team)
- Gillessen-kaesbach-nishimura syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- craniosynostoses [MeSH Descriptor]
- ectromelia [MeSH Descriptor]
- hypertelorism [MeSH Descriptor]
- polycystic kidney, autosomal recessive [MeSH Descriptor]
Record concept(s)
- polycystic kidney disease, potter type I, with microbrachycephaly, hypertelorism, and brachymelia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gillessen-kaesbach-nishimura syndrome [OMIM Phenotype]