rud syndrome - CISMeF

Preferred Label : rud syndrome;

MeSH synonym : ichthyosis hypogonadism mental retardation epilepsy syndrome; rud's syndrome; ichthyosis mental retardation-epilepsy hypogonadism syndrome; ichthyosis oligophrenia epilepsy syndrome; neuroichthyosis hypogonadism syndrome; dwarfism ichthyosiform erythroderma mental deficiency syndrome; ichthyosis male hypogonadism syndrome;

Details

Origin ID

C535878;

UMLS CUI

C0270709;

Automatic exact mappings (from CISMeF team)
- Ichthyosis and male hypogonadism [OMIM Phenotype]
Currated CISMeF NLP mapping
- Rud's syndrome (disorder) [SNOMED CT concept]
- rud's syndrome [SNOMED Notion]
MeSH term(s) associated for indexing
- epilepsy [MeSH Descriptor]
- hypogonadism [MeSH Descriptor]
- ichthyosis [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
ORDO relation(s)
- Ichthyosis-male hypogonadism syndrome [ORDO Disease]
Record concept(s)
- Rud Syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rud's syndrome (disorder) [SNOMED CT concept]
- rud's syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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