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syndroom van mitochondriale myopathie met sideroblastische anemie (aandoening)
syndroom van mitochondriale myopathie met sideroblastische anemie
Mitochondrial myopathy with sideroblastic anemia syndrome
Myopathy, lactic acidosis and sideroblastic anemia
Belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidemia and mitochondrial myopathy. Less than 10 cases have been described so far. A 656C-->T mutation in the nuclear pseudouridine synthase 1 gene (PUS1), localized to 12q24.33, has recently been identified in some patients. Deficient pseudouridylation of mitochondrial tRNAs may be responsible for the oxidative phosphorylation disorder. Transmission is autosomal recessive.
Id724138007
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG71.3
RuleTRUE
AdviceALWAYS G71.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetD64.0
RuleTRUE
AdviceALWAYS D64.0
CorrelationSNOMED CT source code to target map code correlation not specified