Link to this page
SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/5300004
http://purl.bioontology.org/ontology/SNOMEDCT/5300004
|
|---|---|
| Preferred Name | Hemoglobin Bart's hydrops syndrome |
| Definitions |
A severe form of alpha-thalassaemia that is mostly lethal and associated with severe long-term outcome and lifelong transfusions in survivors. It is characterised by fetal onset of generalised oedema, pleural and pericardial effusions, and severe hypochromic anaemia.
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.
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.
|
| Synonyms |
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
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A severe form of alpha-thalassaemia that is mostly lethal and associated with severe long-term outcome and lifelong transfusions in survivors. It is characterised by fetal onset of generalised oedema, pleural and pericardial effusions, and severe hypochromic anaemia. 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. 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. |
|---|---|
| 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
See more
See less
|
| prefLabel | Hemoglobin Bart's hydrops syndrome
|
| Type ID |
900000000000003001
900000000000013009
|
| CASE SIGNIFICANCE ID |
900000000000020002
900000000000448009
|
| notation | 5300004
|
| Effective time | 20020131
|
| Active | 1
|
| Has finding site | |
| interprets | |
| subClassOf |
See more
See less
|
| Semantic type UMLS property | |
| Has interpretation | |
| type | |
| 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
447562003~MAPADVICE~ALWAYS D56.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPPRIORITY~1
900000000000497000~MAPTARGET~D1072
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
See more
See less
|
| DEFINITION STATUS ID | 900000000000074008
|
| tui | T047
|
| CTV3ID | D1072
|
| Occurs in | |
| cui | C0272005
|
| Has associated morphology |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |