cryohydrocytosis, Stomatin-Deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly

Preferred Label : cryohydrocytosis, Stomatin-Deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly;

MeSH synonym : Stomatin-Deficient cryohydrocytosis with neurologic defects;

Details

Origin ID

C563840;

UMLS CUI

C1837206;

Automatic exact mappings (from CISMeF team)
- Stomatin-deficient cryohydrocytosis with neurologic defects [OMIM Phenotype]
MeSH term(s) associated for indexing
- cataract [MeSH Descriptor]
- hepatomegaly [MeSH Descriptor]
- hyperkalemia [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- seizures [MeSH Descriptor]
- splenomegaly [MeSH Descriptor]
Record concept(s)
- cryohydrocytosis, Stomatin-Deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary cryohydrocytosis with reduced stomatin [ORDO Disease]
- Hereditary cryohydrocytosis with reduced stomatin [ICD-11 More detail]
- Stomatin-deficient cryohydrocytosis with neurologic defects [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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