716682000: bêta-thalassémie dominante (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Anemia due to disturbance of hemoglobin synthesis\thalassémie\Beta thalassemia (disorder)\Dominant beta-thalassemia (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\Anemia due to disturbance of hemoglobin synthesis\thalassémie\Beta thalassemia (disorder)\Dominant beta-thalassemia (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\Anemia due to disturbance of hemoglobin synthesis\thalassémie\Beta thalassemia (disorder)\Dominant beta-thalassemia (disorder)
• \Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Anemia due to disturbance of hemoglobin synthesis\thalassémie\Beta thalassemia (disorder)\Dominant beta-thalassemia (disorder)
• \constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\...
• \troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\thalassémie\Beta thalassemia (disorder)\Dominant beta-thalassemia (disorder)
• \anémie\Anemia due to disturbance of hemoglobin synthesis\thalassémie\Beta thalassemia (disorder)\Dominant beta-thalassemia (disorder)
• \anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\thalassémie\Beta thalassemia (disorder)\Dominant beta-thalassemia (disorder)
• \anomalie de la lignée rouge\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\thalassémie\Beta thalassemia (disorder)\Dominant beta-thalassemia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\thalassémie\Beta thalassemia (disorder)\Dominant beta-thalassemia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Dominant beta-thalassemia (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\thalassémie\Beta thalassemia (disorder)\Dominant beta-thalassemia (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anémie\Anemia due to disturbance of hemoglobin synthesis\thalassémie\Beta thalassemia (disorder)\Dominant beta-thalassemia (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\thalassémie\Beta thalassemia (disorder)\Dominant beta-thalassemia (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\thalassémie\Beta thalassemia (disorder)\Dominant beta-thalassemia (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\thalassémie\Beta thalassemia (disorder)\Dominant beta-thalassemia (disorder)
• \Disease\affection d'un système corporel\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\thalassémie\Beta thalassemia (disorder)\Dominant beta-thalassemia (disorder)
• \Disease\affection d'un système corporel\anomalie de la lignée rouge\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\thalassémie\Beta thalassemia (disorder)\Dominant beta-thalassemia (disorder)
• \Disease\Congenital disease\Hereditary hemoglobinopathy (disorder)\thalassémie\Beta thalassemia (disorder)\Dominant beta-thalassemia (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
1004021000172111	bêta-thalassémie à corps d'inclusion	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3306937012	Dominant beta-thalassemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307189011	Dominant beta-thalassemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307190019	Inclusion body beta-thalassemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307193017	Dominant beta-thalassaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307194011	Inclusion body beta-thalassaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
749871000241115	bêta-thalassémie dominante (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
882011000172114	bêta-thalassémie dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3307191015	Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia. Prevalence of this form is not known. Presents with moderate to severe anemia, jaundice and splenomegaly. Rare mutations in the beta-globin HBB gene result in synthesis of extremely unstable beta-globin variants which precipitate in erythroid precursors causing ineffective erythropoiesis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3307192010	Dominant beta-thalassaemia is a form of beta-thalassaemia resulting in moderate to severe anaemia. Prevalence of this form is not known. Presents with moderate to severe anaemia, jaundice and splenomegaly. Rare mutations in the beta-globin HBB gene result in synthesis of extremely unstable beta-globin variants which precipitate in erythroid precursors causing ineffective erythropoiesis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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