thompson baraitser syndrome

Preferred Label : thompson baraitser syndrome;

Origin ID

C536515;

UMLS CUI

C2931226;

Currated CISMeF NLP mapping
- Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Hepatic fibrosis-renal cysts-intellectual disability syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- pterygium [MeSH Descriptor]
- respiratory insufficiency [MeSH Descriptor]
Record concept(s)
- Thompson Baraitser syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Hepatic fibrosis-renal cysts-intellectual disability syndrome [ORDO Disease]