dykes markes harper syndrome

Preferred Label : dykes markes harper syndrome;

MeSH synonym : ichthyosis, hepatosplenomegaly, and cerebellar degeneration; ichthyosis hepatosplenomegaly cerebellar degeneration;

Details

Origin ID

C535727;

UMLS CUI

C1275088;

Currated CISMeF NLP mapping
- Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder) [SNOMED CT concept]
- Ichthyosis, hepatosplenomegaly, and cerebellar degeneration [OMIM Phenotype]
- Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- cerebellar diseases [MeSH Descriptor]
- hepatomegaly [MeSH Descriptor]
- ichthyosis [MeSH Descriptor]
- splenomegaly [MeSH Descriptor]
Record concept(s)
- Dykes Markes Harper syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder) [SNOMED CT concept]
- Ichthyosis, hepatosplenomegaly, and cerebellar degeneration [OMIM Phenotype]
- Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome [ORDO Disease]

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