loading...| Preferred Name |
Hemoglobin Bart's hydrops syndrome |
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| Synonyms |
Haemoglobin Barts hydrops |
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| Definitions |
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. |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/5300004 |
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| Active |
1 |
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| altLabel |
Haemoglobin Barts hydrops Haemoglobin Bart hydrops syndrome Haemoglobin Bart's hydrops syndrome Hemoglobin Bart hydrops syndrome Hemoglobin Bart's hydrops syndrome (disorder) Alpha thalassemia major Hemoglobin Bart's disease Haemoglobin Bart's disease Hemoglobin Barts hydrops Alpha thalassaemia major |
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| CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 |
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| CTV3ID |
D1072 |
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| cui |
C0272005 |
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| definition |
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. 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. |
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| DEFINITION STATUS ID |
900000000000074008 |
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| Effective time |
20020131 |
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| Has associated morphology | ||
| Has finding site | ||
| Has interpretation | ||
| interprets | ||
| notation |
5300004 |
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| Occurs in | ||
| prefLabel |
Hemoglobin Bart's hydrops syndrome |
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| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPGROUP~1 6011000124106~MAPADVICE~ALWAYS D56.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 6011000124106~MAPTARGET~D56.0 447562003~MAPTARGET~D56.0 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPADVICE~ALWAYS D56.0 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPPRIORITY~1 900000000000497000~MAPTARGET~D1072 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 |
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| tui |
T047 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/462166006 http://purl.bioontology.org/ontology/SNOMEDCT/63565007 http://purl.bioontology.org/ontology/SNOMEDCT/85995004 http://purl.bioontology.org/ontology/SNOMEDCT/68913001 |