69981004: Hereditary spherocytosis due to beta spectrin defect (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 spherocytosis (disorder)\Hereditary spherocytosis due to beta spectrin defect
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Anaemia due to intrinsic red cell abnormality\Anemia due to membrane defect (disorder)\Hereditary spherocytosis (disorder)\Hereditary spherocytosis due to beta spectrin defect
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Anemia due to membrane defect (disorder)\Hereditary spherocytosis (disorder)\Hereditary spherocytosis due to beta spectrin defect
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary spherocytosis (disorder)\Hereditary spherocytosis due to beta spectrin defect
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Anemia due to membrane defect (disorder)\Hereditary spherocytosis (disorder)\Hereditary spherocytosis due to beta spectrin defect
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary spherocytosis (disorder)\Hereditary spherocytosis due to beta spectrin defect
\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 spherocytosis (disorder)\Hereditary spherocytosis due to beta spectrin defect
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary spherocytosis (disorder)\Hereditary spherocytosis due to beta spectrin defect
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder (disorder)\Hemolytic anemia\Anemia due to membrane defect (disorder)\Hereditary spherocytosis (disorder)\Hereditary spherocytosis due to beta spectrin defect
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary spherocytosis (disorder)\Hereditary spherocytosis due to beta spectrin defect

\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)\Hereditary hemolytic anemia\Hereditary spherocytosis (disorder)\Hereditary spherocytosis due to beta spectrin defect
\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\Anemia due to membrane defect (disorder)\Hereditary spherocytosis (disorder)\Hereditary spherocytosis due to beta spectrin defect
\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 spherocytosis (disorder)\Hereditary spherocytosis due to beta spectrin defect
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Anemia due to membrane defect (disorder)\Hereditary spherocytosis (disorder)\Hereditary spherocytosis due to beta spectrin defect
\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 spherocytosis (disorder)\Hereditary spherocytosis due to beta spectrin defect
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary spherocytosis (disorder)\Hereditary spherocytosis due to beta spectrin defect
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Anemia due to membrane defect (disorder)\Hereditary spherocytosis (disorder)\Hereditary spherocytosis due to beta spectrin defect
\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 spherocytosis (disorder)\Hereditary spherocytosis due to beta spectrin defect
\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary spherocytosis (disorder)\Hereditary spherocytosis due to beta spectrin defect
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\Hemolytic anemia\Anemia due to membrane defect (disorder)\Hereditary spherocytosis (disorder)\Hereditary spherocytosis due to beta spectrin defect
\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 spherocytosis (disorder)\Hereditary spherocytosis due to beta spectrin defect

\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary spherocytosis (disorder)\Hereditary spherocytosis due to beta spectrin defect
\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary spherocytosis (disorder)\Hereditary spherocytosis due to beta spectrin defect

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

\Anemia due to membrane defect (disorder)\Hereditary spherocytosis (disorder)\Hereditary spherocytosis due to beta spectrin defect

\Hereditary hemolytic anemia\Hereditary spherocytosis (disorder)\Hereditary spherocytosis due to beta spectrin defect

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

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 due to beta spectrin defect	Is a	Hereditary spherocytosis (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocytosis	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary spherocytosis due to beta spectrin defect	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spherocytosis due to beta spectrin defect	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Defect	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spherocytosis due to beta spectrin defect	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Hereditary spherocytosis due to beta spectrin defect	Finding site	Entire hematological system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary spherocytosis due to beta spectrin defect	Finding site	Entire hematological system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary spherocytosis due to beta spectrin defect	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spherocytosis due to beta spectrin defect	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary spherocytosis due to beta spectrin defect	Is a	Disorder of hematopoietic structure (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spherocytosis due to beta spectrin defect	Has definitional manifestation	Hemolysis	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocyte	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary spherocytosis due to beta spectrin defect	Finding site	Hematopoietic system structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary spherocytosis due to beta spectrin defect	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary spherocytosis due to beta spectrin defect	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hereditary spherocytosis due to beta spectrin defect	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary spherocytosis due to beta spectrin defect	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hereditary spherocytosis due to beta spectrin defect	Interprets	Erythrocyte destruction	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spherocytosis due to beta spectrin defect	Has interpretation	Present (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Hereditary spherocytosis due to beta spectrin defect	Interprets	Haemolysis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
116225016	Hereditary spherocytosis due to beta spectrin defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
809986012	Hereditary spherocytosis due to beta spectrin defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
116225016	Hereditary spherocytosis due to beta spectrin defect	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
116225016	Hereditary spherocytosis due to beta spectrin defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
809986012	Hereditary spherocytosis due to beta spectrin defect (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
809986012	Hereditary spherocytosis due to beta spectrin defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6310241000241114	sphérocytose héréditaire due à une anomalie de la spectrine bêta	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6310241000241114	sphérocytose héréditaire due à une anomalie de la spectrine bêta	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module