716682000: Dominant beta-thalassemia (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \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\Thalassemia\Beta thalassemia\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\Thalassemia\Beta thalassemia\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\Thalassemia\Beta thalassemia\Dominant beta-thalassemia (disorder)
• \Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Beta thalassemia\Dominant beta-thalassemia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Dominant beta-thalassemia (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Dominant beta-thalassemia (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Dominant beta-thalassemia (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Beta thalassemia\Dominant beta-thalassemia (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Dominant beta-thalassemia (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Dominant beta-thalassemia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Dominant beta-thalassemia (disorder)
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Dominant beta-thalassemia (disorder)
• \Disease\Disorder of body system\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Dominant beta-thalassemia (disorder)
• \Disease\Congenital disease (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\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
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
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
3869531000052115	dominant betatalassemi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

Back to Start