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717050005: Autosomal recessive sideroblastic anemia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3308287017 Autosomal recessive sideroblastic anemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308288010 Autosomal recessive sideroblastic anaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401475019 Congenital autosomal recessive sideroblastic anemia (ARSA) is 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401476018 Congenital autosomal recessive sideroblastic anaemia (ARSA) is 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308285013 Autosomal recessive sideroblastic anemia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3308285013 Autosomal recessive sideroblastic anemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308287017 Autosomal recessive sideroblastic anemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3308287017 Autosomal recessive sideroblastic anemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308288010 Autosomal recessive sideroblastic anaemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3308288010 Autosomal recessive sideroblastic anaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5401475019 Congenital autosomal recessive sideroblastic anemia (ARSA) is 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401476018 Congenital autosomal recessive sideroblastic anaemia (ARSA) is 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3420241001000113 Sideroblastische Anämie, autosomal-rezessive de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
874741000172111 anémie sidéroblastique autosomique récessive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
982991000172114 ARSA - autosomal recessive sideroblastic anemia fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
874741000172111 anémie sidéroblastique autosomique récessive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
982991000172114 ARSA - autosomal recessive sideroblastic anemia fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3420241001000113 Sideroblastische Anämie, autosomal-rezessive de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive sideroblastic anemia (disorder) Is a Sideroblastic anemia true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive sideroblastic anemia (disorder) Is a Congenital anemia false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive sideroblastic anemia (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive sideroblastic anemia (disorder) Is a Hereditary red blood cell disorder (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive sideroblastic anemia (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive sideroblastic anemia (disorder) Finding site Erythrocyte false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive sideroblastic anemia (disorder) Has definitional manifestation érythropénie false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive sideroblastic anemia (disorder) Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive sideroblastic anemia (disorder) Has interpretation Below reference range false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive sideroblastic anemia (disorder) Interprets Red blood cell count false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive sideroblastic anemia (disorder) Has interpretation Below reference range false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive sideroblastic anemia (disorder) Interprets Measurement of total haemoglobin concentration false Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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