720465002: Adult-onset autosomal recessive sideroblastic anemia (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Adult-onset autosomal recessive sideroblastic anaemia
• \Anaemia\Sideroblastic anaemia\Adult-onset autosomal recessive sideroblastic anaemia
• \Red blood cell disorder\Hereditary red blood cell disorder\Adult-onset autosomal recessive sideroblastic anaemia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Adult-onset autosomal recessive sideroblastic anaemia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Adult-onset autosomal recessive sideroblastic anaemia
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Adult-onset autosomal recessive sideroblastic anaemia
• \Disease\Blood disease\Anaemia\Sideroblastic anaemia\Adult-onset autosomal recessive sideroblastic anaemia
• \Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Adult-onset autosomal recessive sideroblastic anaemia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Adult-onset autosomal recessive sideroblastic anaemia
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Adult-onset autosomal recessive sideroblastic anaemia

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3320927016	Adult-onset autosomal recessive sideroblastic anemia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3320928014	Adult-onset autosomal recessive sideroblastic anemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3320929018	GLRX5 (glutaredoxin 5) related sideroblastic anemia	en	Synonym	Active	Case sensitive	SNOMED CT core
3320930011	GLRX5 (glutaredoxin 5) related sideroblastic anaemia	en	Synonym	Active	Case sensitive	SNOMED CT core
3320931010	Adult-onset autosomal recessive sideroblastic anaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3320932015	A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.	en	Definition	Active	Case sensitive	SNOMED CT core
3320933013	A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anaemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anaemia with liver iron overload and type 2 diabetes.	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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