77413008: Severe hereditary spherocytosis due to spectrin deficiency (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Finding of substance level\Finding of protein level\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Hereditary hemolytic anemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Evaluation finding\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\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Evaluation finding\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\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Evaluation finding\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\Severe hereditary spherocytosis due to spectrin deficiency
\Evaluation finding\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\Severe hereditary spherocytosis due to spectrin deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Hemoglobin below reference range\Hereditary hemolytic anemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below 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\Severe hereditary spherocytosis due to spectrin deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Hereditary hemolytic anemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Evaluation finding\Measurement finding\Finding of red blood cell count\Red blood cell count outside reference range\Red blood cell count below reference range\Hemolytic anemia\Anemia due to membrane defect\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Evaluation finding\Measurement finding\Finding of red blood cell count\Red blood cell count outside reference range\Red blood cell count below reference range\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Evaluation finding\Hematopoietic system finding\Hematology test outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Hereditary hemolytic anemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Evaluation finding\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Hereditary hemolytic anemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency

\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\Hereditary hemolytic anemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anemia\Anemia due to intrinsic red cell abnormality\Anemia due to membrane defect\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anemia\Hemolytic anemia\Anemia due to membrane defect\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Hemolytic disorder\Hemolytic anemia\Anemia due to membrane defect\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary hemolytic anemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\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\Severe hereditary spherocytosis due to spectrin deficiency
\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\Severe hereditary spherocytosis due to spectrin deficiency

\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\Severe hereditary spherocytosis due to spectrin deficiency

\Hereditary hemolytic anemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency

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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2006. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

128504012 Severe hereditary spherocytosis due to spectrin deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

818241019 Severe hereditary spherocytosis due to spectrin deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe hereditary spherocytosis due to spectrin deficiency	Is a	Hereditary spherocytosis due to spectrin deficiency	true	Inferred relationship	Existential restriction modifier
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocytosis	false	Inferred relationship	Existential restriction modifier	1
Severe hereditary spherocytosis due to spectrin deficiency	Finding site	Entire hematological system	false	Inferred relationship	Existential restriction modifier	1
Severe hereditary spherocytosis due to spectrin deficiency	Interprets	Nutritional deficiency	false	Inferred relationship	Existential restriction modifier
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Defect	false	Inferred relationship	Existential restriction modifier
Severe hereditary spherocytosis due to spectrin deficiency	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier	5
Severe hereditary spherocytosis due to spectrin deficiency	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Severe hereditary spherocytosis due to spectrin deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocyte	false	Inferred relationship	Existential restriction modifier	1
Severe hereditary spherocytosis due to spectrin deficiency	Severity	Severe	false	Inferred relationship	Existential restriction modifier
Severe hereditary spherocytosis due to spectrin deficiency	Finding site	Entire hematological system	false	Inferred relationship	Existential restriction modifier	1
Severe hereditary spherocytosis due to spectrin deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier	1
Severe hereditary spherocytosis due to spectrin deficiency	Has definitional manifestation	Erythropenia	false	Inferred relationship	Existential restriction modifier
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocyte	false	Inferred relationship	Existential restriction modifier	1
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocyte	false	Inferred relationship	Existential restriction modifier	2
Severe hereditary spherocytosis due to spectrin deficiency	Has definitional manifestation	Hemolysis	false	Inferred relationship	Existential restriction modifier
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocyte	false	Inferred relationship	Existential restriction modifier	1
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocyte	false	Inferred relationship	Existential restriction modifier	2
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocyte	false	Inferred relationship	Existential restriction modifier	1
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocyte	false	Inferred relationship	Existential restriction modifier	2
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocyte	false	Inferred relationship	Existential restriction modifier	2
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocyte	false	Inferred relationship	Existential restriction modifier	1
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocyte	false	Inferred relationship	Existential restriction modifier	1
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocyte	false	Inferred relationship	Existential restriction modifier	2
Severe hereditary spherocytosis due to spectrin deficiency	Finding site	Hematopoietic system structure	true	Inferred relationship	Existential restriction modifier	1
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocyte	true	Inferred relationship	Existential restriction modifier	1
Severe hereditary spherocytosis due to spectrin deficiency	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	2
Severe hereditary spherocytosis due to spectrin deficiency	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	3
Severe hereditary spherocytosis due to spectrin deficiency	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier	2
Severe hereditary spherocytosis due to spectrin deficiency	Interprets	Measurement of total hemoglobin concentration	true	Inferred relationship	Existential restriction modifier	3
Severe hereditary spherocytosis due to spectrin deficiency	Interprets	Erythrocyte destruction, function	false	Inferred relationship	Existential restriction modifier
Severe hereditary spherocytosis due to spectrin deficiency	Has interpretation	Present	true	Inferred relationship	Existential restriction modifier	4
Severe hereditary spherocytosis due to spectrin deficiency	Interprets	Hemolysis	true	Inferred relationship	Existential restriction modifier	4

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Is a	False	Severe hereditary spherocytosis due to spectrin deficiency	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
128504012	Severe hereditary spherocytosis due to spectrin deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
818241019	Severe hereditary spherocytosis due to spectrin deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module