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;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0564564;

UMLS CUI

C1842321;

Automatic exact mappings (from CISMeF team)
- Growth failure, microcephaly, impaired intellectual development, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy [OMIM Phenotype]
Related record
- growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy [MeSH Supplementary 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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