724138007: Mitochondrial myopathy with sideroblastic anemia syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \Anaemia\Sideroblastic anaemia\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \Disease\Blood disease\Anaemia\Sideroblastic anaemia\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \Disease\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Mitochondrial myopathy with sideroblastic anaemia syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial myopathy with sideroblastic anaemia syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3430986016	Mitochondrial myopathy with sideroblastic anemia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3430987013	Mitochondrial myopathy with sideroblastic anemia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3430988015	Mitochondrial myopathy with sideroblastic anaemia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3430989011	Myopathy, lactic acidosis and sideroblastic anemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3430990019	Myopathy, lactic acidosis and sideroblastic anaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3430991015	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.	en	Definition	Active	Case sensitive	SNOMED CT core
3430992010	Belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia and mitochondrial myopathy. Less than 10 cases have been described so far. A 656C-->T mutation in the nuclear pseudouridine synthase 1 gene (PUS1), localised 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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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