55995005: Hereditary spherocytosis (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
\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
\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
\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
\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
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Hemoglobin below reference range\Hereditary hemolytic anemia\Hereditary spherocytosis
\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
\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
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Hereditary hemolytic anemia\Hereditary spherocytosis
\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
\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
\Evaluation finding\Hematopoietic system finding\Hematology test outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Hereditary hemolytic anemia\Hereditary spherocytosis
\Evaluation finding\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Hereditary hemolytic anemia\Hereditary spherocytosis

\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
\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
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anemia\Hemolytic anemia\Anemia due to membrane defect\Hereditary spherocytosis
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary spherocytosis
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Hemolytic disorder\Hemolytic anemia\Anemia due to membrane defect\Hereditary spherocytosis
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary spherocytosis
\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
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\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

\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\Hereditary red blood cell disorder\Hereditary hemolytic anemia\Hereditary spherocytosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Hereditary spherocytosis
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary hemolytic anemia\Hereditary spherocytosis
\Disease\Disorder of cellular component of blood\Anemia\Anemia due to intrinsic red cell abnormality\Anemia due to membrane defect\Hereditary spherocytosis
\Disease\Disorder of cellular component of blood\Anemia\Hemolytic anemia\Anemia due to membrane defect\Hereditary spherocytosis
\Disease\Disorder of cellular component of blood\Anemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary spherocytosis
\Disease\Disorder of cellular component of blood\Hemolytic disorder\Hemolytic anemia\Anemia due to membrane defect\Hereditary spherocytosis
\Disease\Disorder of cellular component of blood\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary spherocytosis
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary hemolytic anemia\Hereditary spherocytosis
\Disease\Disorder of cellular component of blood\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\Hereditary red blood cell disorder\Hereditary hemolytic anemia\Hereditary spherocytosis
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell 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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

93126010 Hereditary spherocytosis en Synonym Active Entire term case insensitive SNOMED CT core module

93128011 Familial spherocytosis en Synonym Active Entire term case insensitive SNOMED CT core module

93129015 Minkowsky-Chauffard syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

93130013 Congenital spherocytosis en Synonym Active Entire term case insensitive SNOMED CT core module

93131012 Familial acholuric jaundice en Synonym Active Entire term case insensitive SNOMED CT core module

93132017 Congenital spherocytic hemolytic anemia en Synonym Active Entire term case insensitive SNOMED CT core module

497486018 Congenital spherocytic haemolytic anaemia en Synonym Active Entire term case insensitive SNOMED CT core module

794457015 Hereditary spherocytosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1231551018 HS - Hereditary spherocytosis en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary spherocytosis due to spectrin deficiency	Is a	True	Hereditary spherocytosis	Inferred relationship	Existential restriction modifier
Hereditary spherocytosis due to deficiency of protein 4.2	Is a	True	Hereditary spherocytosis	Inferred relationship	Existential restriction modifier
Hereditary spherocytosis due to beta spectrin defect	Is a	True	Hereditary spherocytosis	Inferred relationship	Existential restriction modifier
Family history: Hereditary spherocytosis	Associated finding	False	Hereditary spherocytosis	Inferred relationship	Existential restriction modifier	1
Family history: Hereditary spherocytosis	Associated finding	True	Hereditary spherocytosis	Inferred relationship	Existential restriction modifier	1
Family history: Hereditary spherocytosis	Associated finding	False	Hereditary spherocytosis	Inferred relationship	Existential restriction modifier	1
Family history: Spherocytosis	Associated finding	False	Hereditary spherocytosis	Inferred relationship	Existential restriction modifier	1
Family history: Spherocytosis	Associated finding	True	Hereditary spherocytosis	Inferred relationship	Existential restriction modifier	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	Active	Entire term case insensitive	SNOMED CT core module
93128011	Familial spherocytosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
93129015	Minkowsky-Chauffard syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
93130013	Congenital spherocytosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
93131012	Familial acholuric jaundice	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
93132017	Congenital spherocytic hemolytic anemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
497486018	Congenital spherocytic haemolytic anaemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
794457015	Hereditary spherocytosis (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1231551018	HS - Hereditary spherocytosis	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module