5300004: Hemoglobin Bart's hydrops syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of blood, lymphatics and immune system\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\Alpha thalassemia (disorder)\Haemoglobin Bart's hydrops syndrome
• \Anemia\Fetal anemia\Haemoglobin Bart's hydrops syndrome
• \Anemia\Congenital anemia\Haemoglobin Bart's hydrops syndrome
• \Anemia\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia (disorder)\Haemoglobin Bart's hydrops syndrome
• \Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Haemoglobin Bart's hydrops syndrome
• \Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Haemoglobin Bart's hydrops syndrome
• \Oedema\Disorder characterized by edema\Hydrops fetalis\Haemoglobin Bart's hydrops syndrome
• \Procedure related finding\Evaluation finding\...
• \Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Haemoglobin Bart's hydrops syndrome
• \Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia (disorder)\Haemoglobin Bart's hydrops syndrome
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\Haemoglobin Bart's hydrops syndrome
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Haemoglobin Bart's hydrops syndrome
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Haemoglobin Bart's hydrops syndrome
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia (disorder)\Haemoglobin Bart's hydrops syndrome
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Congenital anemia\Haemoglobin Bart's hydrops syndrome
• \Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Haemoglobin Bart's hydrops syndrome
• \Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia (disorder)\Haemoglobin Bart's hydrops syndrome
• \Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\Haemoglobin Bart's hydrops syndrome
• \Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Haemoglobin Bart's hydrops syndrome
• \Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia (disorder)\Haemoglobin Bart's hydrops syndrome
• \Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Haemoglobin Bart's hydrops syndrome
• \Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia (disorder)\Haemoglobin Bart's hydrops syndrome
• \Fetal finding\Fetal disorder\...
• \Fetal anemia\Haemoglobin Bart's hydrops syndrome
• \Hydrops fetalis\Haemoglobin Bart's hydrops syndrome
• \Fetus with hereditary disease\Haemoglobin Bart's hydrops syndrome
• \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\Alpha thalassemia (disorder)\Haemoglobin Bart's hydrops syndrome
• \Disease\Genetic disease\Hereditary disease\Fetus with hereditary disease\Haemoglobin Bart's hydrops syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Haemoglobin Bart's hydrops syndrome
• \Disease\Disorder of foetus and/or newborn\Fetal disorder\Fetal anemia\Haemoglobin Bart's hydrops syndrome
• \Disease\Disorder of foetus and/or newborn\Fetal disorder\Hydrops fetalis\Haemoglobin Bart's hydrops syndrome
• \Disease\Disorder of foetus and/or newborn\Fetal disorder\Fetus with hereditary disease\Haemoglobin Bart's hydrops syndrome
• \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\Alpha thalassemia (disorder)\Haemoglobin Bart's hydrops syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Fetal anemia\Haemoglobin Bart's hydrops syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\Haemoglobin Bart's hydrops syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia (disorder)\Haemoglobin Bart's hydrops syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Haemoglobin Bart's hydrops syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Haemoglobin Bart's hydrops syndrome
• \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\Alpha thalassemia (disorder)\Haemoglobin Bart's hydrops syndrome
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Haemoglobin Bart's hydrops syndrome
• \Disease\Disorder of body system\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Haemoglobin Bart's hydrops syndrome
• \Disease\Disorder characterized by edema\Hydrops fetalis\Haemoglobin Bart's hydrops syndrome
• \Disease\Congenital disease (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Haemoglobin Bart's hydrops syndrome
• \Disease\Congenital disease (disorder)\Congenital anemia\Haemoglobin Bart's hydrops syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
9888011	Hemoglobin Bart's hydrops syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
9889015	Hemoglobin Bart's disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
496516017	Alpha thalassemia major	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
496517014	Hemoglobin Barts hydrops	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
496518016	Haemoglobin Bart's hydrops syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
496519012	Alpha thalassaemia major	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
496520018	Haemoglobin Bart's disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
496521019	Haemoglobin Barts hydrops	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
791071016	Hemoglobin Bart's hydrops syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2841557010	Haemoglobin Bart hydrops syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2841558017	Hemoglobin Bart hydrops syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4590277018	A severe form of alpha-thalassemia that is mostly lethal, and associated with severe long-term outcome and lifelong transfusions in survivors. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia. Caused by deletion or inactivation of all four alpha-globin alleles leading to a severe deficiency in alpha-globin chains of Hb, and to the production of gamma-4 tetramers (Hb Bart's) during fetal life, and beta-4 tetramers (HbH) postnatally. Hb Bart's and HbH have increased oxygen affinity resulting in ineffective tissue oxygen delivery. The disease is mostly the result of combined, biallelic deletions in the HBA1 and HBA2 genes (16p13.3). The pattern of inheritance is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4590278011	A severe form of alpha-thalassaemia that is mostly lethal, and associated with severe long-term outcome and lifelong transfusions in survivors. It is characterized by fetal onset of generalised oedema, pleural and pericardial effusions, and severe hypochromic anaemia. Caused by deletion or inactivation of all four alpha-globin alleles leading to a severe deficiency in alpha-globin chains of Hb, and to the production of gamma-4 tetramers (Hb Bart's) during fetal life, and beta-4 tetramers (HbH) postnatally. Hb Bart's and HbH have increased oxygen affinity resulting in ineffective tissue oxygen delivery. The disease is mostly the result of combined, biallelic deletions in the HBA1 and HBA2 genes (16p13.3). The pattern of inheritance is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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US English

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