Anemia due to enzymopathy
Autosomal recessive hereditary disorder
Hereditary nonspherocytic hemolytic anemia
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Hemolytic anemia due to adenylate kinase deficiency (disorder)
Hemolytic anemia due to adenylate kinase deficiency
Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.
Id766982000
StatusDefined
Has interpretationBelow reference range
InterpretsRed blood cell count
Finding siteErythrocyte
Has interpretationBelow reference range
InterpretsMeasurement of total hemoglobin concentration
Due toDeficiency of adenylate kinase
Has interpretationPresent
InterpretsHemolysis
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
TargetD55.3
RuleTRUE
AdviceALWAYS D55.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified