15121005: Hereditary elliptocytosis due to glycophorin C deficiency (disorder)

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Anaemia due to intrinsic red cell abnormality\Hereditary elliptocytosis due to glycophorin C deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Congenital anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Red blood cell disorder\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder (disorder)\Hemolytic anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Finding of protein level (finding)\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Measurement finding\Finding of substance level (finding)\Finding of protein level (finding)\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range\Red blood cell count below reference range\Hemolytic anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range\Red blood cell count below reference range\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\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 glycophorin C deficiency
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\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 glycophorin C deficiency
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Congenital anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\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 glycophorin C deficiency
\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\Hemolytic anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency

\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency

\Functional finding\Red blood cell destruction finding\Hemolysis\Hemolytic disorder (disorder)\Hemolytic anemia\...

\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency

\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Disease\Disorder of cellular component of blood\Anaemia\Anaemia due to intrinsic red cell abnormality\Hereditary elliptocytosis due to glycophorin C deficiency
\Disease\Disorder of cellular component of blood\Anaemia\Congenital anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Disease\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Disease\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Disease\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Disease\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Disease\Disorder of body system\Red blood cell disorder\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency
\Disease\Developmental disorder (disorder)\Congenital malformation\Hereditary elliptocytosis\Hereditary elliptocytosis due to glycophorin C deficiency

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

25675015 Hereditary elliptocytosis due to glycophorin C deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

741824010 Hereditary elliptocytosis due to glycophorin C deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

25675015 Hereditary elliptocytosis due to glycophorin C deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

741824010 Hereditary elliptocytosis due to glycophorin C deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

6238901000241116 elliptocytose héréditaire due à un déficit en glycophorine C fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6238911000241119 EH (elliptocytose héréditaire) due à un déficit en glycophorine C fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6238901000241116 elliptocytose héréditaire due à un déficit en glycophorine C fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6238911000241119 EH (elliptocytose héréditaire) due à un déficit en glycophorine C 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 glycophorin C deficiency	Is a	Hereditary elliptocytosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis due to glycophorin C deficiency	Is a	Anaemia due to intrinsic red cell abnormality	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis due to glycophorin C deficiency	Finding site	Erythrocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hereditary elliptocytosis due to glycophorin C deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis due to glycophorin C deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis due to glycophorin C deficiency	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis due to glycophorin C deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis due to glycophorin C deficiency	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary elliptocytosis due to glycophorin C deficiency	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary elliptocytosis due to glycophorin C deficiency	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary elliptocytosis due to glycophorin C deficiency	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary elliptocytosis due to glycophorin C deficiency	Interprets	Haemolysis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hereditary elliptocytosis due to glycophorin C deficiency	Has interpretation	Present (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hereditary elliptocytosis due to glycophorin C deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Hereditary elliptocytosis due to glycophorin C deficiency	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Hereditary elliptocytosis due to glycophorin C deficiency	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Hereditary elliptocytosis due to glycophorin C deficiency	Associated morphology	Elliptocyte (cell)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets