orofaciodigital syndrome, shashi type

Preferred Label : orofaciodigital syndrome, shashi type;

MeSH note : X-linked mental retardation syndrome with characteristic facial dysmorphic features;

MeSH synonym : shashi X-linked mental retardation syndrome; mental retardation X-linked shashi type; mental retardation X-linked syndromic 11; mental retardation, X-Linked, shashi type; MRXS11; SMRXS; mental retardation, X-Linked, syndromic 11;

Détails

Origin ID

C537135;

UMLS CUI

C1846145;

Currated CISMeF NLP mapping
- Intellectual developmental disorder, X-linked, syndromic, shashi type [OMIM Phenotype]
- X-linked intellectual disability, Shashi type [ORDO Disease]
MeSH term(s) associated for indexing
- X-Linked Intellectual Disability [MeSH Descriptor]
Record concept(s)
- Orofaciodigital syndrome, Shashi type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual developmental disorder, X-linked, syndromic, shashi type [OMIM Phenotype]
- X-linked intellectual disability, Shashi type [ORDO Disease]

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