38911009: Hereditary hemolytic anemia (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 haemolytic anaemia
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary haemolytic anaemia
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Hereditary haemolytic anaemia
\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 haemolytic anaemia
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Haemolysis\Hemolytic disorder\Hemolytic anemia\Hereditary haemolytic anaemia

\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 haemolytic anaemia
\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 haemolytic anaemia
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Hereditary haemolytic anaemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Hereditary haemolytic anaemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Hereditary haemolytic anaemia
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary haemolytic anaemia
\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 haemolytic anaemia

\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary haemolytic anaemia
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary haemolytic anaemia

\Functional finding\Red blood cell destruction finding\Haemolysis\Hemolytic disorder\Hemolytic anemia\Hereditary haemolytic anaemia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary haemolytic anaemia
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary haemolytic anaemia
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary haemolytic anaemia
\Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Hereditary haemolytic anaemia
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary haemolytic anaemia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary haemolytic anaemia
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary haemolytic anaemia

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 haemolytic anaemia	Is a	Hemolytic anemia	true	Inferred relationship	Some
Hereditary haemolytic anaemia	Finding site	Erythrocyte (cell)	true	Inferred relationship	Some	4
Hereditary haemolytic anaemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Hereditary haemolytic anaemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Hereditary haemolytic anaemia	Has definitional manifestation	érythropénie	false	Inferred relationship	Some
Hereditary haemolytic anaemia	Is a	Hereditary red blood cell disorder (disorder)	true	Inferred relationship	Some
Hereditary haemolytic anaemia	Finding site	Body system structure	false	Inferred relationship	Some
Hereditary haemolytic anaemia	Has definitional manifestation	Haemolysis	false	Inferred relationship	Some
Hereditary haemolytic anaemia	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Hereditary haemolytic anaemia	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Hereditary haemolytic anaemia	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	1
Hereditary haemolytic anaemia	Interprets	Red blood cell count	true	Inferred relationship	Some	2
Hereditary haemolytic anaemia	Interprets	Erythrocyte destruction	false	Inferred relationship	Some
Hereditary haemolytic anaemia	Has interpretation	Present (qualifier value)	true	Inferred relationship	Some	3
Hereditary haemolytic anaemia	Interprets	Hemolysis (observable entity)	true	Inferred relationship	Some	3
Hereditary haemolytic anaemia	Is a	Hemolytic disorder	false	Inferred relationship	Some
Hereditary haemolytic anaemia	Is a	Hemoglobin below reference range (finding)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hemolytic anemia due to glutathione metabolism disorder	Is a	True	Hereditary haemolytic anaemia	Inferred relationship	Some
Hämolytische Anämie durch Mangel der erythrozytären Pyruvatkinase	Is a	False	Hereditary haemolytic anaemia	Inferred relationship	Some
Other enzyme deficiency hemolytic anemia	Is a	False	Hereditary haemolytic anaemia	Inferred relationship	Some
Other specified hereditary hemolytic anemias	Is a	False	Hereditary haemolytic anaemia	Inferred relationship	Some
Hereditary hemolytic anemia NOS	Is a	False	Hereditary haemolytic anaemia	Inferred relationship	Some
[X]Other specified hereditary hemolytic anemias	Is a	False	Hereditary haemolytic anaemia	Inferred relationship	Some
Hemolytic anemia due to triose phosphate isomerase deficiency	Is a	True	Hereditary haemolytic anaemia	Inferred relationship	Some
Hereditary nonspherocytic haemolytic anaemia	Is a	True	Hereditary haemolytic anaemia	Inferred relationship	Some
Hereditary spherocytosis	Is a	True	Hereditary haemolytic anaemia	Inferred relationship	Some
Hereditary elliptocytosis	Is a	True	Hereditary haemolytic anaemia	Inferred relationship	Some
ittero perinatale dovuto ad anemia emolitica ereditaria	Due to	False	Hereditary haemolytic anaemia	Inferred relationship	Some	4
Neonatal jaundice due to glucose-6-phosphate dehydrogenase deficiency	Due to	False	Hereditary haemolytic anaemia	Inferred relationship	Some	5
A rare disorder characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.	Is a	True	Hereditary haemolytic anaemia	Inferred relationship	Some
Early neonatal jaundice due to hereditary hemolytic anemia (disorder)	Due to	True	Hereditary haemolytic anaemia	Inferred relationship	Some	2

Reference Sets

Description inactivation indicator reference set

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Id	Description	Lang	Type	Status	Case?	Module
65264014	Hereditary hemolytic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
491833015	Hereditary haemolytic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
775266015	Hereditary hemolytic anemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
921601000195117	anemia emolitica ereditaria	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
345761000172110	anémie hémolytique héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
870681000195110	Vererbte Blutarmut	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
870691000195112	Hereditäre hämolytische Anämie	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2305901000195112	Erbliche hämolytische Anämie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module