66262001: Hereditary elliptocytosis due to beta spectrin-ankyrin interaction (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 haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to intrinsic red cell abnormality\Anemia due to membrane defect\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\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-ankyrin interaction
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Anemia due to membrane defect\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\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-ankyrin interaction
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Anemia due to membrane defect\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\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-ankyrin interaction
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\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 haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\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-ankyrin interaction
\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-ankyrin interaction
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Haemolysis\Hemolytic disorder\Hemolytic anemia\Anemia due to membrane defect\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Haemolysis\Hemolytic disorder\Hemolytic anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Haemolysis\Hemolytic disorder\Hemolytic anemia\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction

\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-ankyrin interaction
\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\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-ankyrin interaction
\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\Anemia due to membrane defect\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\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-ankyrin interaction
\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 haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\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-ankyrin interaction
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Anemia due to membrane defect\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\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-ankyrin interaction
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\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-ankyrin interaction
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\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-ankyrin interaction
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Anemia due to membrane defect\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\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-ankyrin interaction
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\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-ankyrin interaction
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\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-ankyrin interaction
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hemolytic anemia\Anemia due to membrane defect\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\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-ankyrin interaction
\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 haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction

\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-ankyrin interaction
\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\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-ankyrin interaction
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction

\Functional finding\Red blood cell destruction finding\Haemolysis\Hemolytic disorder\Hemolytic anemia\...

\Anemia due to membrane defect\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction

\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction

\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to intrinsic red cell abnormality\Anemia due to membrane defect\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Anemia due to membrane defect\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Anemia due to membrane defect\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\Disease\Disorder of body system\Red blood cell disorder\Congenital hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction
\Disease\Developmental disorder\Congenital malformation\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin-ankyrin interaction

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

110049019 Hereditary elliptocytosis due to beta spectrin-ankyrin interaction en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

805856011 Hereditary elliptocytosis due to beta spectrin-ankyrin interaction (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6240541000241111 elliptocytose héréditaire due à l'interaction de la spectrine bêta avec l'ankyrine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6240551000241114 EH (elliptocytose héréditaire) due à l'interaction de la spectrine bêta avec l'ankyrine fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary elliptocytosis due to beta spectrin-ankyrin interaction	Is a	Hereditary elliptocytosis	true	Inferred relationship	Some
Hereditary elliptocytosis due to beta spectrin-ankyrin interaction	Is a	Anaemia due to intrinsic red cell abnormality	false	Inferred relationship	Some
Hereditary elliptocytosis due to beta spectrin-ankyrin interaction	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Hereditary elliptocytosis due to beta spectrin-ankyrin interaction	Finding site	Erythrocyte (cell)	false	Inferred relationship	Some	3
Hereditary elliptocytosis due to beta spectrin-ankyrin interaction	Has definitional manifestation	érythropénie	false	Inferred relationship	Some
Hereditary elliptocytosis due to beta spectrin-ankyrin interaction	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Hereditary elliptocytosis due to beta spectrin-ankyrin interaction	Finding site	Body system structure	false	Inferred relationship	Some
Hereditary elliptocytosis due to beta spectrin-ankyrin interaction	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Hereditary elliptocytosis due to beta spectrin-ankyrin interaction	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	1
Hereditary elliptocytosis due to beta spectrin-ankyrin interaction	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Hereditary elliptocytosis due to beta spectrin-ankyrin interaction	Interprets	Red blood cell count	true	Inferred relationship	Some	2
Hereditary elliptocytosis due to beta spectrin-ankyrin interaction	Has interpretation	Present (qualifier value)	true	Inferred relationship	Some	3
Hereditary elliptocytosis due to beta spectrin-ankyrin interaction	Interprets	Hemolysis (observable entity)	true	Inferred relationship	Some	3
Hereditary elliptocytosis due to beta spectrin-ankyrin interaction	Finding site	Erythrocyte (cell)	true	Inferred relationship	Some	4
Hereditary elliptocytosis due to beta spectrin-ankyrin interaction	Occurrence	Congenital	true	Inferred relationship	Some	4
Hereditary elliptocytosis due to beta spectrin-ankyrin interaction	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Hereditary elliptocytosis due to beta spectrin-ankyrin interaction	Associated morphology	Elliptocyte	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets