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68913001: Alpha thalassemia (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)

\Anemia\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia (disorder)

\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)
\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)

\Procedure related finding\Evaluation finding\...

\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)
\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)

\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)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)
\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)
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia (disorder)
\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)
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)
\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)
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)
\Disease\Disorder of body system\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Alpha thalassemia (disorder)	Is a	Thalassemia	true	Inferred relationship	Some
Alpha thalassemia (disorder)	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Alpha thalassemia (disorder)	Finding site	Erythrocyte	false	Inferred relationship	Some
Alpha thalassemia (disorder)	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Alpha thalassemia (disorder)	Has definitional manifestation	Erytrocytopeni	false	Inferred relationship	Some
Alpha thalassemia (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Alpha thalassemia (disorder)	Has interpretation	Below reference range	false	Inferred relationship	Some	1
Alpha thalassemia (disorder)	Interprets	Measurement of total haemoglobin concentration	false	Inferred relationship	Some	1
Alpha thalassemia (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Alpha thalassemia (disorder)	Interprets	Red blood cell count	false	Inferred relationship	Some	2
Alpha thalassemia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Alpha thalassemia (disorder)	Finding site	Erythrocyte	true	Inferred relationship	Some	3
Alpha thalassemia (disorder)	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Alpha thalassemia trait	Is a	False	Alpha thalassemia (disorder)	Inferred relationship	Some
Haemoglobin Constant Spring trait	Is a	True	Alpha thalassemia (disorder)	Inferred relationship	Some
Alpha plus thalassemia	Is a	True	Alpha thalassemia (disorder)	Inferred relationship	Some
Hemoglobin H disease	Is a	True	Alpha thalassemia (disorder)	Inferred relationship	Some
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.	Is a	True	Alpha thalassemia (disorder)	Inferred relationship	Some
Alpha zero thalassemia	Is a	True	Alpha thalassemia (disorder)	Inferred relationship	Some
Alpha trait thalassemia	Is a	True	Alpha thalassemia (disorder)	Inferred relationship	Some
Homozygous alpha thalassemia	Is a	True	Alpha thalassemia (disorder)	Inferred relationship	Some
Alpha thalassemia-2 trait	Is a	True	Alpha thalassemia (disorder)	Inferred relationship	Some
Sickle cell anemia with coexistent alpha-thalassemia	Is a	True	Alpha thalassemia (disorder)	Inferred relationship	Some
Sickle cell trait with coexistent alpha-thalassemia	Is a	True	Alpha thalassemia (disorder)	Inferred relationship	Some
Hemoglobin H constant spring thalassemia (disorder)	Is a	True	Alpha thalassemia (disorder)	Inferred relationship	Some
A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia.	Is a	True	Alpha thalassemia (disorder)	Inferred relationship	Some
A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.	Is a	True	Alpha thalassemia (disorder)	Inferred relationship	Some
Haemoglobin Paksé disease	Is a	True	Alpha thalassemia (disorder)	Inferred relationship	Some
Hemoglobin Seal Rock disease (disorder)	Is a	True	Alpha thalassemia (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
501132016	Alpha thalassaemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
501133014	Alpha thalassemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3793598011	Alpha thalassemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3793600017	Alpha thalassemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3793601018	Alpha thalassaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3800345011	alpha thalassemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3800346012	alpha thalassaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5628861000005117	alfa-talassæmi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)