FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.8.2 | FHIR Version n/a User: [n/a]

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

\Procedure related finding\Evaluation finding\...

\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
\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary elliptocytosis
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital hemolytic anemia\Hereditary elliptocytosis
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary elliptocytosis

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

\Congenital hemolytic anemia\Hereditary elliptocytosis

\Hereditary hemolytic anemia\Hereditary elliptocytosis

\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
\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 hemolytic anemia\Hereditary elliptocytosis
\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
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\Congenital hemolytic anemia\Hereditary elliptocytosis
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Congenital hemolytic anemia\Hereditary elliptocytosis
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis
\Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Congenital hemolytic anemia\Hereditary elliptocytosis
\Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary elliptocytosis
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary elliptocytosis
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary elliptocytosis
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Congenital hemolytic anemia\Hereditary elliptocytosis
\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
\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 hemolytic anemia\Hereditary elliptocytosis
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary elliptocytosis
\Disease\Developmental 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	Some
Hereditary elliptocytosis	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Hereditary elliptocytosis	Finding site	Erythrocyte	true	Inferred relationship	Some	1
Hereditary elliptocytosis	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Hereditary elliptocytosis	Is a	Hereditary red blood cell disorder (disorder)	false	Inferred relationship	Some
Hereditary elliptocytosis	Finding site	Body system structure	false	Inferred relationship	Some
Hereditary elliptocytosis	Has definitional manifestation	Red blood cell finding	false	Inferred relationship	Some
Hereditary elliptocytosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Hereditary elliptocytosis	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	3
Hereditary elliptocytosis	Interprets	Hemolysis (observable entity)	true	Inferred relationship	Some	4
Hereditary elliptocytosis	Is a	Congenital hemolytic anemia	true	Inferred relationship	Some
Hereditary elliptocytosis	Interprets	Red blood cell count	true	Inferred relationship	Some	2
Hereditary elliptocytosis	Has interpretation	Present	true	Inferred relationship	Some	4
Hereditary elliptocytosis	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Hereditary elliptocytosis	Is a	Hereditary hemolytic anemia	true	Inferred relationship	Some
Hereditary elliptocytosis	Is a	Congenital malformation	true	Inferred relationship	Some
Hereditary elliptocytosis	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Hereditary elliptocytosis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hereditary elliptocytosis	Associated morphology	Elliptocyte	true	Inferred relationship	Some	1
Hereditary elliptocytosis	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary elliptocytosis due to glycophorin C deficiency	Is a	True	Hereditary elliptocytosis	Inferred relationship	Some
Hereditary elliptocytosis due to deficiency of protein 4.1	Is a	True	Hereditary elliptocytosis	Inferred relationship	Some
Hereditary elliptocytosis due to beta spectrin-ankyrin interaction	Is a	True	Hereditary elliptocytosis	Inferred relationship	Some
Hereditary elliptocytosis due to beta spectrin defect in self-association	Is a	True	Hereditary elliptocytosis	Inferred relationship	Some
Hereditary elliptocytosis due to abnormal protein 4.1	Is a	True	Hereditary elliptocytosis	Inferred relationship	Some
Hereditary elliptocytosis due to alpha spectrin defect	Is a	True	Hereditary elliptocytosis	Inferred relationship	Some
Hereditary elliptocytosis with transient poikilocytosis	Is a	True	Hereditary elliptocytosis	Inferred relationship	Some
A rare constitutional hemolytic anemia that is characterized by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.	Is a	True	Hereditary elliptocytosis	Inferred relationship	Some
Homozygous hereditary elliptocytosis (disorder)	Is a	True	Hereditary elliptocytosis	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

GB English

US English

Back to Start

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
2091431000005118	hereditær elliptocytose	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)