hydrolethalus syndrome 1

Preferred Label : hydrolethalus syndrome 1;

MeSH note : mutation in HYLS1;

Origin ID

C565504;

UMLS CUI

C1856016;

Automatic exact mappings (from CISMeF team)
- hydrolethalus syndrome 1 [DO Concept]
Currated CISMeF NLP mapping
- Hydrolethalus syndrome [PASCAL descriptor]
- Hydrolethalus syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- central nervous system [MeSH Descriptor]
- hydrocephalus [MeSH Descriptor]
- polydactyly [MeSH Descriptor]
Record concept(s)
- hydrolethalus syndrome 1 [MeSH concept]
See also inter- (CISMeF)
- HYLS1 centriolar and ciliogenesis associated [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hydrolethalus syndrome 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Hydrolethalus [ORDO Disease]
- Hydrolethalus syndrome 1 [OMIM Phenotype]
- hydrolethalus syndrome [Disease (Nov.)]
- hydrolethalus syndrome [DO Concept]