partington X-linked mental retardation syndrome

Preferred Label : partington X-linked mental retardation syndrome;

MeSH synonym : partington syndrome; mental retardation-dystonic movements-ataxia-seizures syndrome; mental retardation, X-linked, syndromic 1; mental retardation, X-linked, with dystonic movements, ataxia, and seizures; mental retardation, X-Linked 36;

Details

Origin ID

C536300;

UMLS CUI

C0796250;

Automatic exact mappings (from CISMeF team)
- Partington syndrome [DO Concept]
- Russell-silver syndrome, X-linked [OMIM Phenotype]
- X-linked intellectual deficit-dystonia-dysarthria syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Partington syndrome [OMIM Phenotype]
- Partington syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- X-Linked Intellectual Disability [MeSH Descriptor]
- ataxia [MeSH Descriptor]
- seizures [MeSH Descriptor]
Record concept(s)
- Partington X-linked mental retardation syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Partington syndrome [OMIM Phenotype]
- Partington syndrome [ORDO Disease]
- X-linked intellectual deficit-dystonia-dysarthria syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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