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720465002: anémie sidéroblastique autosomique récessive de l'adulte (trouble)


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
1012251000172118 anémie sidéroblastique associée à GLRX5 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
755431000241119 anémie sidéroblastique autosomique récessive de l'adulte (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
877211000172112 anémie sidéroblastique autosomique récessive de l'adulte fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Adult-onset autosomal recessive sideroblastic anemia (disorder) est un(e) (attribut) Sideroblastic anemia true Inferred relationship Some
Adult-onset autosomal recessive sideroblastic anemia (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Adult-onset autosomal recessive sideroblastic anemia (disorder) est un(e) (attribut) Hereditary red blood cell disorder (disorder) true Inferred relationship Some
Adult-onset autosomal recessive sideroblastic anemia (disorder) survenue (attribut) Adulthood (qualifier value) false Inferred relationship Some
Adult-onset autosomal recessive sideroblastic anemia (disorder) localisation d'une constatation (attribut) Erythrocyte false Inferred relationship Some
Adult-onset autosomal recessive sideroblastic anemia (disorder) est défini par la manifestation de (attribut) Erythropenia false Inferred relationship Some
Adult-onset autosomal recessive sideroblastic anemia (disorder) est un(e) (attribut) Hereditary disorder by system false Inferred relationship Some
Adult-onset autosomal recessive sideroblastic anemia (disorder) a pour interprétation (attribut) au-dessous de l'étendue de référence false Inferred relationship Some 5
Adult-onset autosomal recessive sideroblastic anemia (disorder) a pour interprétation (attribut) au-dessous de l'étendue de référence false Inferred relationship Some 6
Adult-onset autosomal recessive sideroblastic anemia (disorder) interprète (attribut) Measurement of total haemoglobin concentration false Inferred relationship Some 5
Adult-onset autosomal recessive sideroblastic anemia (disorder) interprète (attribut) Red blood cell count false Inferred relationship Some 6
Adult-onset autosomal recessive sideroblastic anemia (disorder) localisation d'une constatation (attribut) Erythrocyte true Inferred relationship Some 1
Adult-onset autosomal recessive sideroblastic anemia (disorder) survenue (attribut) Adulthood (qualifier value) 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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