growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy

Preferred Label : growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy;

Details

Origin ID

C564264;

UMLS CUI

C1842321;

CISMeF manual mappings
- Growth failure, microcephaly, impaired intellectual development, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy [OMIM Phenotype]
MeSH term(s) associated for indexing
- cataract [MeSH Descriptor]
- contracture [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- malformations of cortical development [MeSH Descriptor]
- osteoporosis [MeSH Descriptor]
- spinocerebellar degenerations [MeSH Descriptor]
Record concept(s)
- growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Growth failure, microcephaly, impaired intellectual development, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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