Overhydrated hereditary stomatocytosis

Preferred Label : Overhydrated hereditary stomatocytosis;

ICD-11 definition : Overhydrated hereditary stomatocytosis is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia. Onset occurs during the neonatal period or infancy with hemolytic anemia that may require occasional blood transfusions. Splenomegaly or hepatosplenomegaly are present.;

ICD-11 synonym : Hydrocytosis;

Details

Origin ID

595647587;

UMLS CUI

C1861455;

Automatic exact mappings (from CISMeF team)
- overhydrated hereditary stomatocytosis [DO Concept]
Currated CISMeF NLP mapping
- Overhydrated hereditary stomatocytosis [OMIM Phenotype]
- Overhydrated hereditary stomatocytosis [ORDO Disease]
- Overhydrated hereditary stomatocytosis (disorder) [SNOMED CT concept]
- stomatocytosis I [MeSH Supplementary Concept]
- stomatocytosis I [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Overhydrated hereditary stomatocytosis [OMIM Phenotype]
- Overhydrated hereditary stomatocytosis [ORDO Disease]
- Overhydrated hereditary stomatocytosis (disorder) [SNOMED CT concept]
- stomatocytosis I [MeSH concept]
- stomatocytosis I [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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