Code System Concept

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Code System Concept

Code System Concept Code	715526002
Code System Concept Name	Dehydrated hereditary stomatocytosis (disorder)
Code System Preferred Concept Name	Dehydrated hereditary stomatocytosis (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	07/31/2016
SDO Date Created	07/31/2016
SDO Date Revised	07/31/2016
Description	A rare haemolytic anaemia with manifestations of decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated haemolysis. Pseudohyperkalaemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. Transmission is autosomal dominant.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3302920015	Dehydrated hereditary stomatocytosis	Active	Synonym	false	false
3302921016	Hereditary xerocytosis	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7
Problem Value Set	3

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal dominant hereditary disorder (disorder) {11164009 , SNOMED-CT } Erythrocyte enzyme deficiency (disorder) {234401000 , SNOMED-CT } Hereditary red blood cell disorder (disorder) {414394009 , SNOMED-CT } Hereditary stomatocytosis (disorder) {14087004 , SNOMED-CT } Stomatocytosis (disorder) {3272007 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,