growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia

Preferred Label : growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia;

MeSH synonym : ROCA-Weidemann syndrome; ROCA syndrome;

Details

Origin ID

C565755;

UMLS CUI

C1858182;

Currated CISMeF NLP mapping
- Growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia [OMIM Phenotype]
MeSH term(s) associated for indexing
- anus, imperforate [MeSH Descriptor]
- blepharoptosis [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- heart defects, congenital [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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