191169008: Hereditary elliptocytosis (disorder)

\Congenital hemolytic anemia\Hereditary elliptocytosis

\Hereditary hemolytic anemia\Hereditary elliptocytosis

Descriptions:

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary elliptocytosis	Is a	Erythrocyte membrane abnormality	true	Inferred relationship	Some
Hereditary elliptocytosis	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Hereditary elliptocytosis	Finding site	Erythrocyte	true	Inferred relationship	Some	1
Hereditary elliptocytosis	Finding site	Hematopoietic 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
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	True	Hereditary elliptocytosis	Inferred relationship	Some
Homozygous hereditary elliptocytosis (disorder)	Is a	True	Hereditary elliptocytosis	Inferred relationship	Some

Reference Sets

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
854601000052112	hereditär elliptocytos	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)