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


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
877211000172112 anémie sidéroblastique autosomique récessive de l'adulte fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
1012251000172118 anémie sidéroblastique associée à GLRX5 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
920641000172117 autosomaal recessieve sideroblastische anemie met aanvang op volwassen leeftijd nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
971061000172119 GLRX5-gerelateerde sideroblastische anemie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Adult-onset autosomal recessive sideroblastic anemia (disorder) Is a Sideroblastic anemia true Inferred relationship Some
Adult-onset autosomal recessive sideroblastic anemia (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Adult-onset autosomal recessive sideroblastic anemia (disorder) Is a Hereditary red blood cell disorder (disorder) true Inferred relationship Some
Adult-onset autosomal recessive sideroblastic anemia (disorder) Occurrence Adulthood false Inferred relationship Some
Adult-onset autosomal recessive sideroblastic anemia (disorder) Finding site Erythrocyte false Inferred relationship Some
Adult-onset autosomal recessive sideroblastic anemia (disorder) Has definitional manifestation Erythropenia false Inferred relationship Some
Adult-onset autosomal recessive sideroblastic anemia (disorder) Is a Hereditary disorder by system false Inferred relationship Some
Adult-onset autosomal recessive sideroblastic anemia (disorder) Has interpretation Below reference range false Inferred relationship Some 5
Adult-onset autosomal recessive sideroblastic anemia (disorder) Has interpretation Below reference range false Inferred relationship Some 6
Adult-onset autosomal recessive sideroblastic anemia (disorder) Interprets Measurement of total haemoglobin concentration false Inferred relationship Some 5
Adult-onset autosomal recessive sideroblastic anemia (disorder) Interprets Red blood cell count false Inferred relationship Some 6
Adult-onset autosomal recessive sideroblastic anemia (disorder) Finding site Erythrocyte true Inferred relationship Some 1
Adult-onset autosomal recessive sideroblastic anemia (disorder) Occurrence Adulthood true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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