heterotopia, periventricular, associated with chromosome 5q deletion

Preferred Label : heterotopia, periventricular, associated with chromosome 5q deletion;

MeSH note : associated with mutations in PVNH5;

MeSH synonym : periventricular nodular heterotopia 5;

Détails

Origin ID

C567876;

UMLS CUI

C2752071;

Currated CISMeF NLP mapping
- Chromosome 5q14.3 deletion syndrome, distal [OMIM Phenotype]
MeSH term(s) associated for indexing
- periventricular nodular heterotopia [MeSH Descriptor]
Record concept(s)
- heterotopia, periventricular, associated with chromosome 5q deletion [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chromosome 5q14.3 deletion syndrome, distal [OMIM Phenotype]

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