mental retardation, X-Linked, syndromic, turner type

Preferred Label : mental retardation, X-Linked, syndromic, turner type;

MeSH note : mutation in HUWE1;

MeSH synonym : MRXS-Turner; mental retardation and macrocephaly syndrome; Brooks-Wisniewski-Brown Syndrome;

Related MeSH term : Juberg-Marsidi Mental Retardation Syndrome; Juberg-Marsidi syndrome;

Details

Origin ID

C567476;

UMLS CUI

C2678046;

Automatic exact mappings (from CISMeF team)
- X-linked intellectual disability Turner type (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Intellectual developmental disorder, X-linked, syndromic, turner type [OMIM Phenotype]
- Mental retardation, X-linked, syndromic, turner type [OMIM Phenotype]
- X-linked intellectual disability, Turner type [ORDO Disease]
- syndromic X-linked intellectual disability Turner type [DO Concept]
MeSH term(s) associated for indexing
- Megalencephaly [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- Juberg Marsidi syndrome [MeSH concept]
- mental retardation, X-Linked, syndromic, turner type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual developmental disorder, X-linked, syndromic, turner type [OMIM Phenotype]
- Mental retardation, X-linked, syndromic, turner type [OMIM Phenotype]
- X-linked intellectual disability Brooks type (disorder) [SNOMED CT concept]
- X-linked intellectual disability, Turner type [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients