52212006: Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency (disorder)

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

\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 (disorder)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glutathione reductase deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Anaemia due to metabolic disorder\Anemia due to enzymopathy (disorder)\Anemia due to enzyme deficiency\HNSHA due to glutathione reductase deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to glutathione reductase deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glutathione reductase deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to glutathione reductase deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glutathione reductase deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glutathione reductase deficiency
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder (disorder)\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to glutathione reductase deficiency
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glutathione reductase deficiency

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Finding of protein level (finding)\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glutathione reductase deficiency
\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 enzyme deficiency\HNSHA due to glutathione reductase deficiency
\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 nonspherocytic haemolytic anaemia\HNSHA due to glutathione reductase deficiency
\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 enzyme deficiency\HNSHA due to glutathione reductase deficiency
\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\HNSHA due to glutathione reductase deficiency
\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\HNSHA due to glutathione reductase deficiency
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to glutathione reductase deficiency
\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\HNSHA due to glutathione reductase deficiency
\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glutathione reductase deficiency
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to glutathione reductase deficiency
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glutathione reductase deficiency

\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glutathione reductase deficiency
\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glutathione reductase deficiency

\Functional finding\Red blood cell destruction finding\Hemolysis\Hemolytic disorder (disorder)\Hemolytic anemia\...

\Anemia due to enzyme deficiency\HNSHA due to glutathione reductase deficiency

\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glutathione reductase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glutathione reductase deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\HNSHA due to glutathione reductase deficiency
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glutathione reductase deficiency
\Disease\Disorder of cellular component of blood\Anaemia\Anaemia due to metabolic disorder\Anemia due to enzymopathy (disorder)\Anemia due to enzyme deficiency\HNSHA due to glutathione reductase deficiency
\Disease\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to glutathione reductase deficiency
\Disease\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glutathione reductase deficiency
\Disease\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to glutathione reductase deficiency
\Disease\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glutathione reductase deficiency
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glutathione reductase deficiency
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glutathione reductase deficiency
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glutathione reductase deficiency

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
HNSHA due to glutathione reductase deficiency	Is a	Inborn error of metabolism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glutathione reductase deficiency	Is a	Anemia due to enzyme deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glutathione reductase deficiency	Is a	Congenital anomaly of the haematopoietic system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glutathione reductase deficiency	Is a	Hereditary disorder of haematologic sysem	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glutathione reductase deficiency	Is a	Erythrocyte enzyme deficiency	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glutathione reductase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glutathione reductase deficiency	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
HNSHA due to glutathione reductase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glutathione reductase deficiency	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glutathione reductase deficiency	Is a	Deficiency of glutathione reductase (NAD(P)H)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glutathione reductase deficiency	Is a	Hereditary nonspherocytic haemolytic anaemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glutathione reductase deficiency	Associated etiologic finding	Enzymopathy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glutathione reductase deficiency	Associated etiologic finding	Deficiency of glutathione reductase (NAD(P)H)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glutathione reductase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glutathione reductase deficiency	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glutathione reductase deficiency	Due to	Deficiency of glutathione reductase (NAD(P)H)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
HNSHA due to glutathione reductase deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glutathione reductase deficiency	Has definitional manifestation	Hemolysis	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glutathione reductase deficiency	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
HNSHA due to glutathione reductase deficiency	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
HNSHA due to glutathione reductase deficiency	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
HNSHA due to glutathione reductase deficiency	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
HNSHA due to glutathione reductase deficiency	Interprets	Erythrocyte destruction	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glutathione reductase deficiency	Has interpretation	Present (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
HNSHA due to glutathione reductase deficiency	Interprets	Haemolysis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
86892013	HNSHA due to glutathione reductase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
86893015	Erythrocytic glutathione deficiency anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
496237014	Erythrocytic glutathione deficiency anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2620821011	Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to glutathione reductase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2620822016	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to glutathione reductase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2913721018	Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2914212013	Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3780597019	Hereditary nonspherocytic haemolytic anaemia due to glutathione reductase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
86892013	HNSHA due to glutathione reductase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
86893015	Erythrocytic glutathione deficiency anemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
86893015	Erythrocytic glutathione deficiency anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
496237014	Erythrocytic glutathione deficiency anaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
496237014	Erythrocytic glutathione deficiency anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
790197015	HNSHA due to glutathione reductase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
790197015	HNSHA due to glutathione reductase deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2612400011	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to glutathione reductase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2620821011	Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to glutathione reductase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2620822016	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to glutathione reductase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2913721018	Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2913721018	Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2914212013	Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2914212013	Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3780597019	Hereditary nonspherocytic haemolytic anaemia due to glutathione reductase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3396761001000118	Anämie, hämolytische durch Glutathion-Reduktase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6270111000241116	anémie hémolytique héréditaire non sphérocytaire due à un déficit en glutathion réductase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6270111000241116	anémie hémolytique héréditaire non sphérocytaire due à un déficit en glutathion réductase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3396761001000118	Anämie, hämolytische durch Glutathion-Reduktase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module