Chudley-Rozdilsky syndrome

Preferred Label : Chudley-Rozdilsky syndrome;

MeSH note : Multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism;

MeSH synonym : chudley syndrome; chudley rozdilsky syndrome;

Details

Origin ID

C535458;

UMLS CUI

C1854663;

Currated CISMeF NLP mapping
- Chudley syndrome [OMIM Phenotype]
- Intellectual disability, myopathy, short stature, endocrine defect syndrome (disorder) [SNOMED CT concept]
- Intellectual disability-myopathy-short stature-endocrine defect syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- hypogonadism [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- myopathy, central core [MeSH Descriptor]
Record concept(s)
- Chudley-Rozdilsky syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chudley syndrome [OMIM Phenotype]
- Intellectual disability, myopathy, short stature, endocrine defect syndrome (disorder) [SNOMED CT concept]
- Intellectual disability-myopathy-short stature-endocrine defect syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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