Helsmoortel-Van der Aa syndrome

Preferred Label : Helsmoortel-Van der Aa syndrome;

MeSH synonym : HVDAS;

Origin ID

000730394;

C000730394;

UMLS CUI

C4014538;

MeSH term(s) associated for indexing
- Autism Spectrum Disorder [MeSH Descriptor]
- Neurodevelopmental Disorders [MeSH Descriptor]
- facies [MeSH Descriptor]
- heart diseases [MeSH Descriptor]
Record concept(s)
- Helsmoortel-Van der Aa syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ADNP syndrome [MedDRA Preferred Term]
- Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder) [SNOMED CT concept]
- Helsmoortel-van der Aa syndrome [MedDRA LLT]
- Helsmoortel-van der aa syndrome [OMIM Phenotype]
- Mental Retardation, Autosomal Dominant 28 [NCIt concept]