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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3320928014	Adult-onset autosomal recessive sideroblastic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3320929018	GLRX5 (glutaredoxin 5) related sideroblastic anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3320930011	GLRX5 (glutaredoxin 5) related sideroblastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3320931010	Adult-onset autosomal recessive sideroblastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3320927016	Adult-onset autosomal recessive sideroblastic anemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3320927016	Adult-onset autosomal recessive sideroblastic anemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3320928014	Adult-onset autosomal recessive sideroblastic anemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3320928014	Adult-onset autosomal recessive sideroblastic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3320929018	GLRX5 (glutaredoxin 5) related sideroblastic anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3320930011	GLRX5 (glutaredoxin 5) related sideroblastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3320931010	Adult-onset autosomal recessive sideroblastic anaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3320931010	Adult-onset autosomal recessive sideroblastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3435961001000110	Sideroblastische Anämie mit Beginn im Erwachsenenalter, autosomal-rezessiv	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
877211000172112	anémie sidéroblastique autosomique récessive de l'adulte	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1012251000172118	anémie sidéroblastique associée à GLRX5	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
877211000172112	anémie sidéroblastique autosomique récessive de l'adulte	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1012251000172118	anémie sidéroblastique associée à GLRX5	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3435961001000110	Sideroblastische Anämie mit Beginn im Erwachsenenalter, autosomal-rezessiv	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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