osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension

Preferred Label : osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension;

Origin ID

C563478;

UMLS CUI

C1833688;

Currated CISMeF NLP mapping
- Osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension [OMIM Phenotype]
MeSH term(s) associated for indexing
- agenesis of corpus callosum [MeSH Descriptor]
- hydrocephalus [MeSH Descriptor]
- hypertension [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
- thrombocytopenia [MeSH Descriptor]
Record concept(s)
- osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension [OMIM Phenotype]