234392002: hemoglobine E-bètathalassemie (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 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

\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

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

\Anemia\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Beta thalassemia\Hemoglobin E/beta thalassemia disease

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

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Protein level - 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
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Beta thalassemia\Hemoglobin E/beta thalassemia disease
\Measurement finding\Measurement finding 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

\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
\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

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

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
Hemoglobin E/beta thalassemia disease	Is a	Hemoglobin E disease	true	Inferred relationship	Some
Hemoglobin E/beta thalassemia disease	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Hemoglobin E/beta thalassemia disease	Finding site	Erythrocyte	false	Inferred relationship	Some
Hemoglobin E/beta thalassemia disease	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Hemoglobin E/beta thalassemia disease	Finding site	Body system structure	false	Inferred relationship	Some
Hemoglobin E/beta thalassemia disease	Has definitional manifestation	Red blood cell finding	false	Inferred relationship	Some
Hemoglobin E/beta thalassemia disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Hemoglobin E/beta thalassemia disease	Finding site	Erythrocyte	true	Inferred relationship	Some	1
Hemoglobin E/beta thalassemia disease	Is a	Beta thalassemia	true	Inferred relationship	Some
Hemoglobin E/beta thalassemia disease	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hemoglobin E/beta thalassemia disease	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
Hemoglobin E/beta thalassemia disease	Has interpretation	Below reference range	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Sickle cell-delta beta^0^-thalassemia	Is a	False	Hemoglobin E/beta thalassemia disease	Inferred relationship	Some
Haemoglobin E beta plus thalassaemia	Is a	True	Hemoglobin E/beta thalassemia disease	Inferred relationship	Some
Hemoglobin E beta zero thalassemia	Is a	True	Hemoglobin E/beta thalassemia disease	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
351167019	Hemoglobin E/beta thalassemia disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
351168012	Double heterozygous for Hb E and beta thalassaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
351169016	Haemoglobin E/beta thalassaemia disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
351170015	Double heterozygous for Hb E and beta thalassemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
622704011	Hemoglobin E/beta thalassemia disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6477051000146117	hemoglobine E-bètathalassemie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6477061000146119	hemoglobine E-bètathalassemie (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6477071000146113	HbE-bètathalassemie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6477321000146111	dubbelheterozygotie voor HbE en bètathalassemie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)