73073009: Hereditary elliptocytosis due to beta spectrin defect in self-association (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 hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to intrinsic red cell abnormality\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \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)\Congenital anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hemolytic anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Congenital anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hemolytic anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Functional finding\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\...
• \Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to intrinsic red cell abnormality\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Disease\Disorder of body system\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Disease\Disorder of body system\Red blood cell disorder\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Disease\Congenital disease (disorder)\Congenital malformation\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Disease\Congenital disease (disorder)\Congenital anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Disease\Developmental disorder\Developmental hereditary disorder\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
• \Disease\Developmental disorder\Congenital malformation\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
121372015	Hereditary elliptocytosis due to beta spectrin defect in self-association	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
813421012	Hereditary elliptocytosis due to beta spectrin defect in self-association (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
12748251000172112	elliptocytose héréditaire due à un défaut d'autoassociation de la spectrine bêta	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
12748261000172114	EH (elliptocytose héréditaire) due à un défaut d'autoassociation de la spectrine bêta	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4168411000172118	erfelijke ovalocytose door defect in bètaspectrine-zelfassociatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4168421000172111	hereditaire elliptocytose door defect in bètaspectrine-zelfassociatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4168431000172114	HE door defect in bètaspectrine-zelfassociatie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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