Richards-Rundle syndrome

Preferred Label : Richards-Rundle syndrome;

MeSH synonym : ketoaciduria-mental deficiency syndrome; ataxia-deafness-retardation syndrome with ketoaciduria; familial ataxia-hypogonadism syndrome; ketoaciduria with mental deficiency and other features;

Details

Origin ID

C535674;

UMLS CUI

C0796136;

Automatic exact mappings (from CISMeF team)
- Richards-Rundle syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Richards-Rundle syndrome [ORDO Disease]
- Richards-Rundle syndrome (disorder) [SNOMED CT concept]
- Richards-rundle syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- amino acid metabolism, inborn errors [MeSH Descriptor]
- ataxia [MeSH Descriptor]
- deafness [MeSH Descriptor]
- hypogonadism [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
ORDO relation(s)
- Richards-Rundle syndrome [ORDO Disease]
Record concept(s)
- Richards-Rundle syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Richards-Rundle syndrome [ORDO Disease]
- Richards-Rundle syndrome (disorder) [SNOMED CT concept]
- Richards-rundle syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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