Skeletal dysplasia coarse facies mental retardation

Preferred Label : Skeletal dysplasia coarse facies mental retardation;

MeSH note : Short stature, abnormal face, skeletal deformities, and progressive mental retardation;

CISMeF synonym : sketetal dysplasia coarse facies mental retardation;

MeSH synonym : spondyloepimetaphyseal dysplasia X-linked with mental deterioration; spondyloepimetaphyseal dysplasia, X-Linked, with mental deterioration; Lkmcd; Leukoencephalopathy With Metaphyseal Chondrodysplasia;

Details

Origin ID

C536671;

UMLS CUI

C1846148;

Automatic exact mappings (from CISMeF team)
- Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome [ORDO Disease]
- Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy [OMIM Phenotype]
MeSH term(s) associated for indexing
- genetic diseases, X-linked [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- Skeletal dysplasia coarse facies mental retardation [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepimetaphyseal dysplasia, Bieganski type [ORDO Disease]
- Spondyloepimetaphyseal dysplasia, Bieganski type [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy [OMIM Phenotype]

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