Dehydrated hereditary stomatocytosis

Preferred Label : Dehydrated hereditary stomatocytosis;

ICD-11 definition : Dehydrated hereditary stomatocytosis is a rare congenital hemolytic anemia with a dominant inheritance pattern. It is usually well compensated (moderate anemia, high reticulocyte count). Blood smears show a variable percentage of stomatocytes. The association of a macrocytosis and an increased mean cell hemoglobin concentration is highly evocative of DHS.;

ICD-11 synonym : Xerocytosis;

Details

Origin ID

799088159;

Currated CISMeF NLP mapping
- Dehydrated hereditary stomatocytosis [ORDO Disease]
- Dehydrated hereditary stomatocytosis (disorder) [SNOMED CT concept]
- dehydrated hereditary stomatocytosis [DO Concept]
See also inter- (CISMeF)
- Xerocytosis (disorder) [SNOMED CT concept]
- Xerocytosis, hereditary [MeSH concept]
- hereditary xerocytosis [Disease (Nov.)]
- hereditary xerocytosis [SNOMED Notion]
- xerocytosis, hereditary [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema [OMIM Phenotype]

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