716682000: Dominant beta-thalassemia (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Beta thalassaemia\Dominant beta-thalassaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Beta thalassaemia\Dominant beta-thalassaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Beta thalassaemia\Dominant beta-thalassaemia
• \Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Beta thalassaemia\Dominant beta-thalassaemia
• \Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Beta thalassaemia\Dominant beta-thalassaemia
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Thalassaemia\Beta thalassaemia\Dominant beta-thalassaemia
• \Anaemia\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Beta thalassaemia\Dominant beta-thalassaemia
• \Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Thalassaemia\Beta thalassaemia\Dominant beta-thalassaemia
• \Red blood cell disorder\Haemoglobinopathy\Hereditary haemoglobinopathy\Thalassaemia\Beta thalassaemia\Dominant beta-thalassaemia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Thalassaemia\Beta thalassaemia\Dominant beta-thalassaemia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Dominant beta-thalassaemia
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Thalassaemia\Beta thalassaemia\Dominant beta-thalassaemia
• \Disease\Blood disease\Anaemia\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Beta thalassaemia\Dominant beta-thalassaemia
• \Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Thalassaemia\Beta thalassaemia\Dominant beta-thalassaemia
• \Disease\Blood disease\Red blood cell disorder\Haemoglobinopathy\Hereditary haemoglobinopathy\Thalassaemia\Beta thalassaemia\Dominant beta-thalassaemia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Thalassaemia\Beta thalassaemia\Dominant beta-thalassaemia
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Thalassaemia\Beta thalassaemia\Dominant beta-thalassaemia
• \Disease\Disorder of body system\Red blood cell disorder\Haemoglobinopathy\Hereditary haemoglobinopathy\Thalassaemia\Beta thalassaemia\Dominant beta-thalassaemia
• \Disease\Congenital disease\Hereditary haemoglobinopathy\Thalassaemia\Beta thalassaemia\Dominant beta-thalassaemia

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3307189011	Dominant beta-thalassemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3307190019	Inclusion body beta-thalassemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3307193017	Dominant beta-thalassaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3307194011	Inclusion body beta-thalassaemia	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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