Code System Concept

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Code System Concept

Code System Concept Code	5300004
Code System Concept Name	Hemoglobin Bart's hydrops syndrome (disorder)
Code System Preferred Concept Name	Hemoglobin Bart's hydrops syndrome (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	01/31/2002
Description	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.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
2841557010	Haemoglobin Bart hydrops syndrome	Active	Synonym	false	false
2841558017	Hemoglobin Bart hydrops syndrome	Active	Synonym	false	false
496516017	Alpha thalassemia major	Active	Synonym	false	false
496517014	Hemoglobin Barts hydrops	Active	Synonym	false	false
496518016	Haemoglobin Bart's hydrops syndrome	Active	Synonym	false	false
496519012	Alpha thalassaemia major	Active	Synonym	false	false
496520018	Haemoglobin Bart's disease	Active	Synonym	false	false
496521019	Haemoglobin Barts hydrops	Active	Synonym	false	false
9888011	Hemoglobin Bart's hydrops syndrome	Active	Synonym	false	false
9889015	Hemoglobin Bart's disease	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7 , 6 , 5 , 4 , 3 , 2 , 1
Problem Value Set	3 , 2

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Alpha thalassemia (disorder) {68913001 , SNOMED-CT } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital anemia (disorder) {63565007 , SNOMED-CT } Disorder by body site (disorder) {123946008 , SNOMED-CT } Disorder characterized by edema (disorder) {118654009 , SNOMED-CT } Fetal anemia (disorder) {462166006 , SNOMED-CT } Fetus with hereditary disease (disorder) {199531009 , SNOMED-CT } Hydrops fetalis (disorder) {276508000 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,