10564005: Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin

\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin

\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin

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

\Anemia due to membrane defect\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin

\Hereditary hemolytic anemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin

\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Anemia due to membrane defect\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Anemia due to membrane defect\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\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 spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin\Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin

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

Descriptions:

Id Description Lang Type Status Case? Module

18364014 Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

573599015 Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4635391000172118 ernstige erfelijke sferocytose door gecombineerde deficiëntie van spectrine en ankyrine nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4635401000172116 ernstige hereditaire sferocytose door gecombineerde deficiëntie van spectrine en ankyrine nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Is a	Severe hereditary spherocytosis due to spectrin deficiency	false	Inferred relationship	Some
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Is a	Hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	true	Inferred relationship	Some
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Occurrence	Congenital	false	Inferred relationship	Some
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Associated morphology	defect	false	Inferred relationship	Some
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Interprets	Nutritional deficiency (finding)	false	Inferred relationship	Some
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Finding site	Erythrocyte	true	Inferred relationship	Some	5
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Associated morphology	Spherocytosis	false	Inferred relationship	Some	1
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Finding site	Entire hematological system (body structure)	false	Inferred relationship	Some	1
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Severity	Severe (severity modifier) (qualifier value)	false	Inferred relationship	Some
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Associated morphology	Spherocyte	false	Inferred relationship	Some	1
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Finding site	Entire hematological system (body structure)	false	Inferred relationship	Some	1
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Finding site	Hematopoietic system structure	false	Inferred relationship	Some	1
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Has definitional manifestation	Erythropenia	false	Inferred relationship	Some
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Associated morphology	Spherocyte	false	Inferred relationship	Some	2
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Associated morphology	Spherocyte	false	Inferred relationship	Some	1
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Has definitional manifestation	Hemolysis	false	Inferred relationship	Some
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Associated morphology	Spherocyte	false	Inferred relationship	Some	2
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Associated morphology	Spherocyte	false	Inferred relationship	Some	1
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Associated morphology	Spherocyte	false	Inferred relationship	Some	1
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Associated morphology	Spherocyte	false	Inferred relationship	Some	2
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Associated morphology	Spherocyte	false	Inferred relationship	Some	2
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Associated morphology	Spherocyte	false	Inferred relationship	Some	1
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Associated morphology	Spherocyte	false	Inferred relationship	Some	2
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Associated morphology	Spherocyte	false	Inferred relationship	Some	1
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Finding site	Hematopoietic system structure	true	Inferred relationship	Some	1
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Associated morphology	Spherocyte	true	Inferred relationship	Some	1
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Interprets	Red blood cell count	true	Inferred relationship	Some	2
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	3
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Interprets	Erythrocyte destruction	false	Inferred relationship	Some
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Has interpretation	Present	true	Inferred relationship	Some	4
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	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
18364014	Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
573599015	Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4635391000172118	ernstige erfelijke sferocytose door gecombineerde deficiëntie van spectrine en ankyrine	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4635401000172116	ernstige hereditaire sferocytose door gecombineerde deficiëntie van spectrine en ankyrine	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)