301317008: hereditaire niet-sferocytaire hemolytische anemie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Laboratory test finding (finding)\Hematopoietic system finding\...

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

\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia

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

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

\Functional finding\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\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 hemolytic anemia\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 hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia
\Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia
\Disease\Disorder of body system\Hematological disorder (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\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 hemolytic anemia\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	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	erytropenie (bevinding)	false	Inferred relationship	Some
Hereditary nonspherocytic haemolytic anaemia	Is a	Hereditary hemolytic anemia	true	Inferred relationship	Some
Hereditary nonspherocytic haemolytic anaemia	Finding site	Body system structure	false	Inferred relationship	Some
Hereditary nonspherocytic haemolytic anaemia	Has definitional manifestation	Hemolysis	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	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
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	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
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	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
Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency (disorder)	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
Hereditary nonspherocytic hemolytic anemia due to increased adenosine deaminase activity (disorder)	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
erfelijke niet-sferocytaire hemolytische anemie door NADH-methemoglobinereductasedeficiëntie (aandoening)	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
Lethal hemolytic anemia and genital anomaly syndrome (disorder)	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 (disorder)	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
211001000146119	erfelijke niet-sferocytaire hemolytische anemie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8617921000146111	hereditaire niet-sferocytaire hemolytische anemie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8667091000146112	hereditaire niet-sferocytaire hemolytische anemie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)