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

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary spherocytosis\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 (finding)\Red blood cell count below reference range\Hemolytic anemia\Anemia due to membrane defect\Hereditary spherocytosis\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 (finding)\Red blood cell count below reference range\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary spherocytosis\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\Hereditary spherocytosis\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\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\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\Hereditary spherocytosis\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\Hereditary spherocytosis due to beta spectrin defect
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary spherocytosis\Hereditary spherocytosis due to beta spectrin defect
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hemolytic anemia\Anemia due to membrane defect\Hereditary spherocytosis\Hereditary spherocytosis due to beta spectrin defect
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary spherocytosis\Hereditary spherocytosis due to beta spectrin defect

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

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

\Anemia due to membrane defect\Hereditary spherocytosis\Hereditary spherocytosis due to beta spectrin defect

\Hereditary hemolytic anemia\Hereditary spherocytosis\Hereditary spherocytosis due to beta spectrin defect

\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\Hereditary spherocytosis due to beta spectrin defect
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Hereditary spherocytosis\Hereditary spherocytosis due to beta spectrin defect
\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\Hereditary spherocytosis due to beta spectrin defect
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to intrinsic red cell abnormality\Anemia due to membrane defect\Hereditary spherocytosis\Hereditary spherocytosis due to beta spectrin defect
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Anemia due to membrane defect\Hereditary spherocytosis\Hereditary spherocytosis due to beta spectrin defect
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary spherocytosis\Hereditary spherocytosis due to beta spectrin defect
\Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Anemia due to membrane defect\Hereditary spherocytosis\Hereditary spherocytosis due to beta spectrin defect
\Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary spherocytosis\Hereditary spherocytosis due to beta spectrin defect
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary spherocytosis\Hereditary spherocytosis due to beta spectrin defect
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary spherocytosis\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\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary spherocytosis\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\Hereditary spherocytosis due to beta spectrin defect
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary spherocytosis\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	true	Inferred relationship	Some
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocytosis	false	Inferred relationship	Some	1
Hereditary spherocytosis due to beta spectrin defect	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Hereditary spherocytosis due to beta spectrin defect	Occurrence	Congenital	false	Inferred relationship	Some
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	defect	false	Inferred relationship	Some
Hereditary spherocytosis due to beta spectrin defect	Finding site	Erythrocyte	true	Inferred relationship	Some	5
Hereditary spherocytosis due to beta spectrin defect	Finding site	Entire hematological system (body structure)	false	Inferred relationship	Some	1
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocyte	false	Inferred relationship	Some	1
Hereditary spherocytosis due to beta spectrin defect	Finding site	Entire hematological system (body structure)	false	Inferred relationship	Some	1
Hereditary spherocytosis due to beta spectrin defect	Has definitional manifestation	Erythropenia	false	Inferred relationship	Some
Hereditary spherocytosis due to beta spectrin defect	Finding site	Hematopoietic system structure	false	Inferred relationship	Some	1
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocyte	false	Inferred relationship	Some	2
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocyte	false	Inferred relationship	Some	1
Hereditary spherocytosis due to beta spectrin defect	Is a	Disorder of hematopoietic structure (disorder)	true	Inferred relationship	Some
Hereditary spherocytosis due to beta spectrin defect	Has definitional manifestation	Hemolysis	false	Inferred relationship	Some
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocyte	false	Inferred relationship	Some	2
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocyte	false	Inferred relationship	Some	1
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocyte	false	Inferred relationship	Some	1
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocyte	false	Inferred relationship	Some	2
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocyte	false	Inferred relationship	Some	1
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocyte	false	Inferred relationship	Some	2
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocyte	false	Inferred relationship	Some	2
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocyte	false	Inferred relationship	Some	1
Hereditary spherocytosis due to beta spectrin defect	Associated morphology	Spherocyte	true	Inferred relationship	Some	1
Hereditary spherocytosis due to beta spectrin defect	Finding site	Hematopoietic system structure	true	Inferred relationship	Some	1
Hereditary spherocytosis due to beta spectrin defect	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Hereditary spherocytosis due to beta spectrin defect	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Hereditary spherocytosis due to beta spectrin defect	Interprets	Red blood cell count	true	Inferred relationship	Some	2
Hereditary spherocytosis due to beta spectrin defect	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	3
Hereditary spherocytosis due to beta spectrin defect	Interprets	Erythrocyte destruction	false	Inferred relationship	Some
Hereditary spherocytosis due to beta spectrin defect	Has interpretation	Present	true	Inferred relationship	Some	4
Hereditary spherocytosis due to beta spectrin defect	Interprets	Hemolysis (observable entity)	true	Inferred relationship	Some	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
12772081000172112	sphérocytose héréditaire due à une anomalie de la spectrine bêta	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4738061000172112	hereditaire sferocytose door defect van bètaspectrine	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4738071000172115	erfelijke sferocytose door defect van bètaspectrine	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4738081000172117	congenitale sferocytose door defect van bètaspectrine	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)