dehydrated hereditary stomatocytosis
Go to external page http://purl.obolibrary.org/obo/MONDO_0017910
Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. [ Orphanet:3202 ]
Synonyms: hereditary xerocytosis
Term information
- Orphanet:3202 (MONDO:equivalentTo)
- SCTID:715526002 (MONDO:equivalentTo)
- GARD:5623 (Orphanet:3202)
- DOID:0111575 (MONDO:equivalentTo)
gard_rare, ordo_disease, rare, nord_rare, orphanet_rare
http://identifiers.org/snomedct/715526002
http://purl.obolibrary.org/obo/DOID_0111575
http://www.orpha.net/ORDO/Orphanet_3202