301317008: Hereditary nonspherocytic 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\Hereditary nonspherocytic haemolytic anaemia
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic 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\Hereditary nonspherocytic haemolytic anaemia
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Haemolysis\Hemolytic disorder\Hemolytic anemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic 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\Hereditary nonspherocytic 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\Hereditary nonspherocytic 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\Hereditary nonspherocytic haemolytic anaemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Hereditary haemolytic anaemia\Hereditary nonspherocytic 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\Hereditary nonspherocytic haemolytic anaemia
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary haemolytic anaemia\Hereditary nonspherocytic 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\Hereditary nonspherocytic haemolytic anaemia

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

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency	Is a	False	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to glutathione synthetase deficiency	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to pyrimidine-5'-nucleotidase deficiency	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to phosphofructokinase deficiency	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to hexokinase deficiency	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to triosephosphate isomerase deficiency	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to NADH diaphorase deficiency	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to glutathione reductase deficiency	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to glucose phosphate isomerase deficiency	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
A rare genetic haematologic disease characterised by mild chronic haemolytic anaemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinaemia. Other cells and tissues are not affected.	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to phosphoglycerate kinase deficiency	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide-methemoglobin reductase deficiency	Is a	False	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency (disorder)	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to decreased adenosine deaminase activity	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
A rare genetic disease characterized by lethal non-spherocytic, non-immune hemolytic anemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995.	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
Nonspherocytic hemolytic anemia due to deficiency of adenosinetriphosphatase (disorder)	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
442590010	Hereditary nonspherocytic haemolytic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
442591014	Congenital nonspherocytic hemolytic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
442592019	Hereditary nonspherocytic hemolytic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
442593012	Congenital nonspherocytic haemolytic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
697100013	Hereditary nonspherocytic hemolytic anemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5244175014	HNSHA - hereditary nonspherocytic hemolytic anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5244176010	HNSHA - hereditary nonspherocytic haemolytic anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6313811000241116	anémie hémolytique héréditaire non sphérocytaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2427401000195112	Hereditäre nichtsphärozytäre hämolytische Anämie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2427411000195114	HNSHA - hereditäre nichtsphärozytäre hämolytische Anämie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2427421000195116	Kongenitale nichtsphärozytäre hämolytische Anämie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module