1153399000: Homozygous hereditary elliptocytosis (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\Homozygous hereditary elliptocytosis (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Congenital anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Homozygous hereditary elliptocytosis (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Homozygous hereditary elliptocytosis (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis\Homozygous hereditary elliptocytosis (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Homozygous hereditary elliptocytosis (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis\Homozygous hereditary elliptocytosis (disorder)
\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\Homozygous hereditary elliptocytosis (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary elliptocytosis\Homozygous hereditary elliptocytosis (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Red blood cell disorder\Congenital haemolytic anaemia\Hereditary elliptocytosis\Homozygous hereditary elliptocytosis (disorder)
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder (disorder)\Hemolytic anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Homozygous hereditary elliptocytosis (disorder)
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis\Homozygous hereditary elliptocytosis (disorder)

\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\Homozygous hereditary elliptocytosis (disorder)
\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\Homozygous hereditary elliptocytosis (disorder)
\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\Homozygous hereditary elliptocytosis (disorder)
\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\Homozygous hereditary elliptocytosis (disorder)
\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\Homozygous hereditary elliptocytosis (disorder)
\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\Homozygous hereditary elliptocytosis (disorder)
\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\Homozygous hereditary elliptocytosis (disorder)
\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\Homozygous hereditary elliptocytosis (disorder)
\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\Homozygous hereditary elliptocytosis (disorder)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Homozygous hereditary elliptocytosis (disorder)
\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\Homozygous hereditary elliptocytosis (disorder)
\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\Homozygous hereditary elliptocytosis (disorder)
\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\Homozygous hereditary elliptocytosis (disorder)
\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Homozygous hereditary elliptocytosis (disorder)
\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Homozygous hereditary elliptocytosis (disorder)
\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\Homozygous hereditary elliptocytosis (disorder)
\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\Homozygous hereditary elliptocytosis (disorder)
\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\Homozygous hereditary elliptocytosis (disorder)

\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\Homozygous hereditary elliptocytosis (disorder)
\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Homozygous hereditary elliptocytosis (disorder)
\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Homozygous hereditary elliptocytosis (disorder)
\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary elliptocytosis\Homozygous hereditary elliptocytosis (disorder)

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

\Congenital haemolytic anaemia\Hereditary elliptocytosis\Homozygous hereditary elliptocytosis (disorder)

\Hereditary hemolytic anemia\Hereditary elliptocytosis\Homozygous hereditary elliptocytosis (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4564212016 Homozygous hereditary elliptocytosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4564213014 Homozygous hereditary elliptocytosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4564212016 Homozygous hereditary elliptocytosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4564213014 Homozygous hereditary elliptocytosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6267761000241114 EH (elliptocytose héréditaire) homozygote fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6267771000241118 elliptocytose héréditaire homozygote fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6267761000241114 EH (elliptocytose héréditaire) homozygote fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6267771000241118 elliptocytose héréditaire homozygote fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Homozygous hereditary elliptocytosis (disorder)	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Homozygous hereditary elliptocytosis (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Homozygous hereditary elliptocytosis (disorder)	Associated morphology	Elliptocyte (cell)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Homozygous hereditary elliptocytosis (disorder)	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Homozygous hereditary elliptocytosis (disorder)	Interprets	Haemolysis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Homozygous hereditary elliptocytosis (disorder)	Is a	Hereditary elliptocytosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Homozygous hereditary elliptocytosis (disorder)	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Homozygous hereditary elliptocytosis (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Homozygous hereditary elliptocytosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Homozygous hereditary elliptocytosis (disorder)	Has interpretation	Present (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Homozygous hereditary elliptocytosis (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets