xerocytosis, hereditary

Preferred Label : xerocytosis, hereditary;

MeSH synonym : desiccytosis, hereditary; hereditary xerocytosis; dehydrated hereditary stomatocytosis; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and-or perinatal edema hemophagocytic lymphohistiocytosis;

Details

Origin ID

C536764;

UMLS CUI

C0272051;

Automatic exact mappings (from CISMeF team)
- Deafness-hypogonadism syndrome [OMIM Phenotype]
Currated CISMeF NLP mapping
- Dehydrated hereditary stomatocytosis [ORDO Disease]
- Dehydrated hereditary stomatocytosis (disorder) [SNOMED CT concept]
- Xerocytosis (disorder) [SNOMED CT concept]
- dehydrated hereditary stomatocytosis [DO Concept]
- hereditary xerocytosis [Disease (Nov.)]
- hereditary xerocytosis [SNOMED Notion]
DO Cross reference
- dehydrated hereditary stomatocytosis [DO Concept]
MeSH term(s) associated for indexing
- anemia, hemolytic, congenital [MeSH Descriptor]
- hydrops fetalis [MeSH Descriptor]
Record concept(s)
- Xerocytosis, hereditary [MeSH concept]
See also inter- (CISMeF)
- Dehydrated hereditary stomatocytosis [ICD-11 More detail]
- Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dehydrated hereditary stomatocytosis [ORDO Disease]
- Dehydrated hereditary stomatocytosis (disorder) [SNOMED CT concept]
- Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema [OMIM Phenotype]
- Hereditary xerocytosis [MedDRA Preferred Term]
- Xerocytosis (disorder) [SNOMED CT concept]
- dehydrated hereditary stomatocytosis [DO Concept]
- hereditary xerocytosis [SNOMED Notion]
- hereditary xerocytosis [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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