191169008: 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
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Congenital anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis
\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
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary elliptocytosis
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Red blood cell disorder\Congenital haemolytic anaemia\Hereditary elliptocytosis
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder (disorder)\Hemolytic anemia\Congenital haemolytic anaemia\Hereditary elliptocytosis
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis

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

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

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

\Congenital haemolytic anaemia\Hereditary elliptocytosis

\Hereditary hemolytic anemia\Hereditary elliptocytosis

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary elliptocytosis	Is a	Erythrocyte membrane abnormality	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary elliptocytosis	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis	Is a	Hereditary red blood cell disorder (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis	Has definitional manifestation	Red blood cell finding (finding)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary elliptocytosis	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hereditary elliptocytosis	Interprets	Haemolysis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Hereditary elliptocytosis	Is a	Congenital haemolytic anaemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary elliptocytosis	Has interpretation	Present (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Hereditary elliptocytosis	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary elliptocytosis	Is a	Hereditary hemolytic anemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis	Is a	Congenital malformation	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hereditary elliptocytosis	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary elliptocytosis	Associated morphology	Elliptocyte (cell)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary elliptocytosis	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary elliptocytosis due to glycophorin C deficiency	Is a	True	Hereditary elliptocytosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis due to deficiency of protein 4.1	Is a	True	Hereditary elliptocytosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis due to beta spectrin-ankyrin interaction	Is a	True	Hereditary elliptocytosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis due to beta spectrin defect in self-association	Is a	True	Hereditary elliptocytosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis due to abnormal protein 4.1	Is a	True	Hereditary elliptocytosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis due to alpha spectrin defect	Is a	True	Hereditary elliptocytosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary elliptocytosis with transient poikilocytosis (disorder)	Is a	True	Hereditary elliptocytosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	True	Hereditary elliptocytosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Homozygous hereditary elliptocytosis (disorder)	Is a	True	Hereditary elliptocytosis	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
293982012	Hereditary ovalocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
293983019	HE - Hereditary elliptocytosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
293984013	Hereditary elliptocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
574836013	Hereditary elliptocytosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3787598014	Congenital elliptocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
293982012	Hereditary ovalocytosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
293982012	Hereditary ovalocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
293983019	HE - Hereditary elliptocytosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
293984013	Hereditary elliptocytosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
293984013	Hereditary elliptocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
574836013	Hereditary elliptocytosis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
574836013	Hereditary elliptocytosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3787598014	Congenital elliptocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3419671001000117	Elliptozytose, hereditäre	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
886781000172116	elliptocytose familiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
960061000172116	EH - elliptocytose héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
886781000172116	elliptocytose familiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
960061000172116	EH - elliptocytose héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3419671001000117	Elliptozytose, hereditäre	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module