Autosomal recessive hereditary disorder	Hemoglobin low	Hereditary disorder of cellular element of blood	Hereditary disorder of musculoskeletal system	Hereditary metabolic disease	Hereditary myopathy	Hereditary sideroblastic anemia	Mitochondrial myopathy	RBC count low	Sideroblastic anemia
\|	\|	\|	\|	\|	\|	\|	\|	\|	\|

Mitochondrial myopathy with sideroblastic anemia syndrome (disorder)
	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.
	syndroom van mitochondriale myopathie met sideroblastische anemie

Id	724138007
Status	Primitive

Finding site

Skeletal muscle structure

Has interpretation	Below reference range
Interprets	Measurement of total hemoglobin concentration

Has interpretation	Below reference range
Interprets	Red blood cell count

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	G71.3
Rule	TRUE
Advice	ALWAYS G71.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	D64.0
Rule	TRUE
Advice	ALWAYS D64.0
Correlation	SNOMED CT source code to target map code correlation not specified