dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy

Preferred Label : dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy;

MeSH synonym : facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation;

Details

Origin ID

C535985;

UMLS CUI

C1857352;

Currated CISMeF NLP mapping
- Dandy-walker malformation with impaired intellectual development, macrocephaly, myopia, and brachytelephalangy [OMIM Phenotype]
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome [ORDO Disease]
Has phenotype(s) (HPO)
- Short and broad fingernails [HPO term]
MeSH term(s) associated for indexing
- Dandy-Walker syndrome [MeSH Descriptor]
- myopia [MeSH Descriptor]
Record concept(s)
- Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dandy-walker malformation with impaired intellectual development, macrocephaly, myopia, and brachytelephalangy [OMIM Phenotype]
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome [ORDO Disease]

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