5300004: Hemoglobin Bart's hydrops syndrome (disorder)

• 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\Congenital anemia\Haemoglobin Bart's hydrops syndrome
• \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\alphathalassémie\Haemoglobin Bart's hydrops syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\numération des globules rouges basse (constatation)\Congenital anemia\Haemoglobin Bart's hydrops syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\numération des globules rouges basse (constatation)\Congenital anemia\Haemoglobin Bart's hydrops syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\Congenital anemia\Haemoglobin Bart's hydrops syndrome
• \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\alphathalassémie\Haemoglobin Bart's hydrops syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\numération des globules rouges basse (constatation)\Congenital anemia\Haemoglobin Bart's hydrops syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\Haemoglobin Bart's hydrops syndrome
• \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\alphathalassémie\Haemoglobin Bart's hydrops syndrome
• \Evaluation finding\Measurement finding\Red blood cell count - finding\RBC count abnormal\numération des globules rouges basse (constatation)\Congenital anemia\Haemoglobin Bart's hydrops syndrome
• \Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\Haemoglobin Bart's hydrops syndrome
• \Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Anemia due to disturbance of hemoglobin synthesis\thalassémie\alphathalassémie\Haemoglobin Bart's hydrops syndrome
• \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\alphathalassémie\Haemoglobin Bart's hydrops syndrome
• \anémie\Fetal anemia\Haemoglobin Bart's hydrops syndrome
• \anémie\Congenital anemia\Haemoglobin Bart's hydrops syndrome
• \anémie\Anemia due to disturbance of hemoglobin synthesis\thalassémie\alphathalassémie\Haemoglobin Bart's hydrops syndrome
• \anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\thalassémie\alphathalassémie\Haemoglobin Bart's hydrops syndrome
• \anomalie de la lignée rouge\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\thalassémie\alphathalassémie\Haemoglobin Bart's hydrops syndrome
• \Oedema\Disorder characterized by edema\Hydrops fetalis\Haemoglobin Bart's hydrops syndrome
• \Foetal finding\Fetal disorder\...
• \Fetal anemia\Haemoglobin Bart's hydrops syndrome
• \Hydrops fetalis\Haemoglobin Bart's hydrops syndrome
• \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\alphathalassémie\Haemoglobin Bart's hydrops syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Haemoglobin Bart's hydrops syndrome
• \Disease\Disorder of fetus or newborn (disorder)\Fetal disorder\Fetal anemia\Haemoglobin Bart's hydrops syndrome
• \Disease\Disorder of fetus or newborn (disorder)\Fetal disorder\Hydrops fetalis\Haemoglobin Bart's hydrops syndrome
• \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\alphathalassémie\Haemoglobin Bart's hydrops syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\anémie\Fetal anemia\Haemoglobin Bart's hydrops syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\anémie\Congenital anemia\Haemoglobin Bart's hydrops syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\anémie\Anemia due to disturbance of hemoglobin synthesis\thalassémie\alphathalassémie\Haemoglobin Bart's hydrops syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\thalassémie\alphathalassémie\Haemoglobin Bart's hydrops syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\thalassémie\alphathalassémie\Haemoglobin Bart's hydrops syndrome
• \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\alphathalassémie\Haemoglobin Bart's hydrops syndrome
• \Disease\affection d'un système corporel\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\thalassémie\alphathalassémie\Haemoglobin Bart's hydrops syndrome
• \Disease\affection d'un système corporel\anomalie de la lignée rouge\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\thalassémie\alphathalassémie\Haemoglobin Bart's hydrops syndrome
• \Disease\Disorder characterized by edema\Hydrops fetalis\Haemoglobin Bart's hydrops syndrome
• \Disease\Congenital disease\Hereditary hemoglobinopathy (disorder)\thalassémie\alphathalassémie\Haemoglobin Bart's hydrops syndrome
• \Disease\Congenital disease\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
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
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
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
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

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