beemer ertbruggen syndrome

Preferred Label : beemer ertbruggen syndrome;

MeSH note : Peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome;

MeSH synonym : beemer lethal malformation syndrome;

Details

Origin ID

C537668;

UMLS CUI

C1859526;

Currated CISMeF NLP mapping
- Beemer lethal malformation syndrome [OMIM Phenotype]
- Beemer-Ertbruggen syndrome [ORDO Disease]
- Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- bone and bones [MeSH Descriptor]
- facies [MeSH Descriptor]
- genitalia, male [MeSH Descriptor]
- heart defects, congenital [MeSH Descriptor]
- hydrocephalus [MeSH Descriptor]
ORDO relation(s)
- Beemer-Ertbruggen syndrome [ORDO Disease]
Record concept(s)
- Beemer Ertbruggen syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Beemer lethal malformation syndrome [OMIM Phenotype]
- Beemer-Ertbruggen syndrome [ORDO Disease]
- Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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