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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


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 Some
Autosomal recessive sideroblastic anemia (disorder) Is a Congenital anemia false Inferred relationship Some
Autosomal recessive sideroblastic anemia (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive sideroblastic anemia (disorder) Is a Hereditary red blood cell disorder (disorder) false Inferred relationship Some
Autosomal recessive sideroblastic anemia (disorder) Occurrence Congenital true Inferred relationship Some 3
Autosomal recessive sideroblastic anemia (disorder) Finding site Erythrocyte false Inferred relationship Some
Autosomal recessive sideroblastic anemia (disorder) Has definitional manifestation Erythropenia false Inferred relationship Some
Autosomal recessive sideroblastic anemia (disorder) Is a Congenital disease (disorder) true Inferred relationship Some
Autosomal recessive sideroblastic anemia (disorder) Has interpretation Below reference range false Inferred relationship Some 1
Autosomal recessive sideroblastic anemia (disorder) Interprets Red blood cell count false Inferred relationship Some 1
Autosomal recessive sideroblastic anemia (disorder) Has interpretation Below reference range false Inferred relationship Some 2
Autosomal recessive sideroblastic anemia (disorder) Interprets Measurement of total haemoglobin concentration false Inferred relationship Some 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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