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hereditaire cryohydrocytose met verminderd stomatine (aandoening)
hereditaire cryohydrocytose met verminderd stomatine
erfelijke cryohydrocytose met verminderd stomatine
Hereditary cryohydrocytosis with reduced stomatin
Hereditary cryohydrocytosis type 2
sdCHC - stomatin-deficient cryohydrocytosis
CHC (hereditary cryohydrocytosis) type 2
Stomatin-deficient cryohydrocytosis
A rare hemolytic anemia characterized by a combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature. There is evidence the disease is caused by heterozygous mutation in the SLC2A1 gene on chromosome 1p34.
Id782911008
StatusPrimitive
Associated morphologystomatocyt
Finding siteerytrocyt
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetD58.8
RuleTRUE
AdviceALWAYS D58.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified