Autosomal recessive hereditary disorder
Hemoglobin below reference range
Hereditary disorder of cellular element of blood
Hereditary disorder of musculoskeletal system
Mitochondrial myopathy
Red blood cell count below reference range
Sideroblastic anemia
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Mitochondrial myopathy with sideroblastic anemia syndrome (disorder)
Mitochondrial myopathy with sideroblastic anemia syndrome
Myopathy, lactic acidosis and sideroblastic anemia
Mitochondrial myopathy 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.
Id724138007
StatusPrimitive
Finding siteSkeletal muscle structure
Has interpretationBelow reference range
InterpretsMeasurement of total hemoglobin concentration
Has interpretationBelow reference range
InterpretsRed blood cell count
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG71.3
TermMitochondriën-myopathie, niet elders geclassificeerd
TargetD64.0
TermHereditaire sideroblastische anemie
SNOMED CT to ICD-10 extended map
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