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55995005: Hereditary spherocytosis (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 spherocytosis
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to intrinsic red cell abnormality\Anemia due to membrane defect\Hereditary spherocytosis
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Anemia due to membrane defect\Hereditary spherocytosis
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary spherocytosis
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Anemia due to membrane defect\Hereditary spherocytosis
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary spherocytosis
\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 spherocytosis
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary spherocytosis
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\Anemia due to membrane defect\Hereditary spherocytosis
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary spherocytosis

\Procedure related finding\Evaluation finding\...

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

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

\Anemia due to membrane defect\Hereditary spherocytosis

\Hereditary hemolytic anemia\Hereditary spherocytosis

\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 spherocytosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Hereditary spherocytosis
\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 spherocytosis
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to intrinsic red cell abnormality\Anemia due to membrane defect\Hereditary spherocytosis
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Anemia due to membrane defect\Hereditary spherocytosis
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary spherocytosis
\Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Anemia due to membrane defect\Hereditary spherocytosis
\Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary spherocytosis
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary spherocytosis
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary spherocytosis
\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 spherocytosis
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary spherocytosis
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary spherocytosis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary spherocytosis	Is a	Anemia due to membrane defect	true	Inferred relationship	Some
Hereditary spherocytosis	Is a	Congenital hemolytic anemia	false	Inferred relationship	Some
Hereditary spherocytosis	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Hereditary spherocytosis	Is a	Erythrocyte membrane abnormality	true	Inferred relationship	Some
Hereditary spherocytosis	Is a	Hereditary disorder of hematologic system	false	Inferred relationship	Some
Hereditary spherocytosis	Finding site	Entire hematological system (body structure)	false	Inferred relationship	Some	1
Hereditary spherocytosis	Finding site	Erythrocyte	false	Inferred relationship	Some	1
Hereditary spherocytosis	Associated morphology	defekt	false	Inferred relationship	Some
Hereditary spherocytosis	Occurrence	Congenital	false	Inferred relationship	Some
Hereditary spherocytosis	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Hereditary spherocytosis	Associated morphology	Spherocytosis	false	Inferred relationship	Some	1
Hereditary spherocytosis	Associated morphology	Spherocyte	false	Inferred relationship	Some	1
Hereditary spherocytosis	Finding site	Entire hematological system (body structure)	false	Inferred relationship	Some	1
Hereditary spherocytosis	Finding site	Hematopoietic system structure	false	Inferred relationship	Some	1
Hereditary spherocytosis	Has definitional manifestation	erytropeni	false	Inferred relationship	Some
Hereditary spherocytosis	Is a	Hereditary hemolytic anemia	true	Inferred relationship	Some
Hereditary spherocytosis	Has definitional manifestation	Hemolysis	false	Inferred relationship	Some
Hereditary spherocytosis	Associated morphology	Spherocyte	true	Inferred relationship	Some	5
Hereditary spherocytosis	Finding site	Erythrocyte	true	Inferred relationship	Some	4
Hereditary spherocytosis	Finding site	Body system structure	false	Inferred relationship	Some
Hereditary spherocytosis	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Hereditary spherocytosis	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Hereditary spherocytosis	Interprets	Red blood cell count	true	Inferred relationship	Some	1
Hereditary spherocytosis	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
Hereditary spherocytosis	Interprets	Erythrocyte destruction	false	Inferred relationship	Some
Hereditary spherocytosis	Has interpretation	Present	true	Inferred relationship	Some	3
Hereditary spherocytosis	Interprets	Hemolysis (observable entity)	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary spherocytosis due to spectrin deficiency	Is a	True	Hereditary spherocytosis	Inferred relationship	Some
Hereditary spherocytosis due to deficiency of protein 4.2	Is a	True	Hereditary spherocytosis	Inferred relationship	Some
Hereditary spherocytosis due to beta spectrin defect	Is a	True	Hereditary spherocytosis	Inferred relationship	Some
FH: Hereditary spherocytosis	Associated finding	False	Hereditary spherocytosis	Inferred relationship	Some	1
FH: Hereditary spherocytosis	Associated finding	True	Hereditary spherocytosis	Inferred relationship	Some	1
FH: Hereditary spherocytosis	Associated finding	False	Hereditary spherocytosis	Inferred relationship	Some	1
FH: Spherocytosis	Associated finding	False	Hereditary spherocytosis	Inferred relationship	Some	1
FH: Spherocytosis	Associated finding	True	Hereditary spherocytosis	Inferred relationship	Some	1

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
93126010	Hereditary spherocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
93128011	Familial spherocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
93129015	Minkowsky-Chauffard syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
93130013	Congenital spherocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
93131012	Familial acholuric jaundice	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
93132017	Congenital spherocytic hemolytic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
497486018	Congenital spherocytic haemolytic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
794457015	Hereditary spherocytosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1231551018	HS - Hereditary spherocytosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1335271000052115	familjär sfärocytos	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)