685111000119109: hemoglobine E-bèta-nul-thalassemie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Laboratory test finding (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\...

\Beta thalassemia\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia

\Thalassemia with other hemoglobinopathy\Hemoglobin E beta zero thalassemia

\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\...

\Beta thalassemia\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia

\Thalassemia with other hemoglobinopathy\Hemoglobin E beta zero thalassemia

\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)\...

\Hereditary haemoglobinopathy due to globin chain mutation\Hemoglobin E disease\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia

\Thalassemia\Beta thalassemia\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia
\Thalassemia\Thalassemia with other hemoglobinopathy\Hemoglobin E beta zero thalassemia

\Anemia\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\...

\Beta thalassemia\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia

\Thalassemia with other hemoglobinopathy\Hemoglobin E beta zero thalassemia

\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Hereditary haemoglobinopathy due to globin chain mutation\Hemoglobin E disease\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia
\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia
\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Thalassemia with other hemoglobinopathy\Hemoglobin E beta zero thalassemia
\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Hereditary haemoglobinopathy due to globin chain mutation\Hemoglobin E disease\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia
\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia
\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Thalassemia with other hemoglobinopathy\Hemoglobin E beta zero thalassemia

\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\Beta thalassemia\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia
\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\Thalassemia with other hemoglobinopathy\Hemoglobin E beta zero thalassemia
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Beta thalassemia\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Thalassemia with other hemoglobinopathy\Hemoglobin E beta zero thalassemia

\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)\Hereditary haemoglobinopathy due to globin chain mutation\Hemoglobin E disease\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia
\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\Beta thalassemia\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia
\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\Thalassemia with other hemoglobinopathy\Hemoglobin E beta zero thalassemia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Hereditary hemoglobinopathy (disorder)\Hereditary haemoglobinopathy due to globin chain mutation\Hemoglobin E disease\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Thalassemia with other hemoglobinopathy\Hemoglobin E beta zero thalassemia
\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)\Hereditary haemoglobinopathy due to globin chain mutation\Hemoglobin E disease\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia
\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\Beta thalassemia\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia
\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\Thalassemia with other hemoglobinopathy\Hemoglobin E beta zero thalassemia
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Beta thalassemia\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Thalassemia with other hemoglobinopathy\Hemoglobin E beta zero thalassemia
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Hereditary haemoglobinopathy due to globin chain mutation\Hemoglobin E disease\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Thalassemia with other hemoglobinopathy\Hemoglobin E beta zero thalassemia
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Hereditary haemoglobinopathy due to globin chain mutation\Hemoglobin E disease\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Thalassemia with other hemoglobinopathy\Hemoglobin E beta zero thalassemia
\Disease\Disorder of body system\Hematological disorder (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Hereditary haemoglobinopathy due to globin chain mutation\Hemoglobin E disease\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia
\Disease\Disorder of body system\Hematological disorder (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia
\Disease\Disorder of body system\Hematological disorder (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Thalassemia with other hemoglobinopathy\Hemoglobin E beta zero thalassemia
\Disease\Disorder of body system\Hematological disorder (disorder)\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Hereditary haemoglobinopathy due to globin chain mutation\Hemoglobin E disease\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia
\Disease\Disorder of body system\Hematological disorder (disorder)\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia
\Disease\Disorder of body system\Hematological disorder (disorder)\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Thalassemia with other hemoglobinopathy\Hemoglobin E beta zero thalassemia
\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)\Hereditary haemoglobinopathy due to globin chain mutation\Hemoglobin E disease\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia
\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\Beta thalassemia\Hemoglobin E/beta thalassemia disease\Hemoglobin E beta zero thalassemia
\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\Thalassemia with other hemoglobinopathy\Hemoglobin E beta zero thalassemia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Sep 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5256348019 Hemoglobin E beta zero thalassemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5256349010 Hemoglobin E beta zero thalassemia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5256350010 Haemoglobin E beta zero thalassaemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
14649041000146118 hemoglobine E-bèta-zero-thalassemie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
14649051000146115 hemoglobine E-bèta-nul-thalassemie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
14649061000146117 hemoglobine E-bèta-0-thalassemie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
14649071000146111 hemoglobine E-bèta-nul-thalassemie (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hemoglobin E beta zero thalassemia	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
Hemoglobin E beta zero thalassemia	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Hemoglobin E beta zero thalassemia	Occurrence	Congenital	true	Inferred relationship	Some	1
Hemoglobin E beta zero thalassemia	Finding site	Erythrocyte	true	Inferred relationship	Some	1
Hemoglobin E beta zero thalassemia	Is a	Hemoglobin E/beta thalassemia disease	true	Inferred relationship	Some
Hemoglobin E beta zero thalassemia	Is a	Thalassemia with other hemoglobinopathy	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets