717050005: Autosomal recessive sideroblastic anemia (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Sideroblastic anaemia\Autosomal recessive sideroblastic anaemia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive sideroblastic anaemia
• \Disease\Blood disease\Anaemia\Sideroblastic anaemia\Autosomal recessive sideroblastic anaemia
• \Disease\Congenital disease\Autosomal recessive sideroblastic anaemia

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3308285013	Autosomal recessive sideroblastic anemia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3308287017	Autosomal recessive sideroblastic anemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3308288010	Autosomal recessive sideroblastic anaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3308530013	A non-syndromic, microcytic/hypochromic sideroblastic anaemia, present from early infancy and characterised by severe microcytic anaemia, which is not pyridoxine responsive, and increased serum ferritin. To date, fewer than 30 unrelated genetically characterised individuals have been reported. Clinical features are those of anaemia and iron overload and include pallor, fatigue, weakness, breathlessness, splenomegaly, hyperglycaemia, glucose intolerance and skin hyperpigmentation. Patients need blood transfusions to survive and do not respond to treatment with pyridoxine. Caused by a homozygous or compound heterozygous mutation in the SLC25A38 gene located on chromosome 3p22.1. The SLC25A38 gene mutation is transmitted as an autosomal recessive trait.	en	Definition	Active	Case sensitive	SNOMED CT core
3308531012	A non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin. To date, fewer than 30 unrelated genetically characterized individuals have been reported. Clinical features are those of anemia and iron overload and include pallor, fatigue, weakness, breathlessness, splenomegaly, hyperglycemia, glucose intolerance and skin hyperpigmentation. Patients need blood transfusions to survive and do not respond to treatment with pyridoxine. Caused by a homozygous or compound heterozygous mutation in the SLC25A38 gene located on chromosome 3p22.1. The SLC25A38 gene mutation is transmitted as an autosomal recessive trait.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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