5994005: Hereditary elliptocytosis due to deficiency of protein 4.1 (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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \Functional finding\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\...
• \Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to deficiency of protein 4.1
• \Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary elliptocytosis\Hereditary elliptocytosis due to deficiency of protein 4.1
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary elliptocytosis due to deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to intrinsic red cell abnormality\Hereditary elliptocytosis due to deficiency of protein 4.1
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to deficiency of protein 4.1
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to deficiency of protein 4.1
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to deficiency of protein 4.1
• \Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to deficiency of protein 4.1
• \Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary elliptocytosis\Hereditary elliptocytosis due to deficiency of protein 4.1
• \Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to deficiency of protein 4.1
• \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 deficiency of protein 4.1
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to deficiency of protein 4.1
• \Disease\Disorder of body system\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary elliptocytosis\Hereditary elliptocytosis due to deficiency of protein 4.1
• \Disease\Disorder of body system\Red blood cell disorder\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to deficiency of protein 4.1
• \Disease\Congenital disease (disorder)\Congenital malformation\Hereditary elliptocytosis\Hereditary elliptocytosis due to deficiency of protein 4.1
• \Disease\Congenital disease (disorder)\Congenital anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to deficiency of protein 4.1
• \Disease\Developmental disorder\Developmental hereditary disorder\Hereditary elliptocytosis\Hereditary elliptocytosis due to deficiency of protein 4.1
• \Disease\Developmental disorder\Congenital malformation\Hereditary elliptocytosis\Hereditary elliptocytosis due to deficiency of protein 4.1

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
10964018	Hereditary elliptocytosis due to deficiency of protein 4.1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
798838013	Hereditary elliptocytosis due to deficiency of protein 4.1 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
12687831000172118	elliptocytose héréditaire due à un déficit en protéine 4.1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
12687841000172113	EH (elliptocytose héréditaire) due à un déficit en protéine 4.1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4197291000172112	hereditaire elliptocytose door deficiëntie van eiwit 4.1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4197301000172113	erfelijke ovalocytose door deficiëntie van proteïne 4.1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4197311000172111	HE door deficiëntie van eiwit 4.1	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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