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

\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\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 (finding)\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 (finding)\Red blood cell count below reference range\Hemolytic anemia\Hereditary haemolytic anaemia\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 haemolytic anaemia\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 haemolytic anaemia\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 haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glutathione reductase deficiency
\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\HNSHA due to glutathione reductase deficiency
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\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 (finding)\Red blood cell count below reference range\Hemolytic anemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glutathione reductase deficiency

\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\HNSHA due to glutathione reductase deficiency
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glutathione reductase deficiency

\Functional finding\Red blood cell destruction finding\Haemolysis\Hemolytic disorder\Hemolytic anemia\...

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

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

\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\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 (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glutathione reductase deficiency
\Disease\Disorder of cellular component of blood (disorder)\Anemia\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 (disorder)\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to glutathione reductase deficiency
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glutathione reductase deficiency
\Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to glutathione reductase deficiency
\Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glutathione reductase deficiency
\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\HNSHA due to glutathione reductase deficiency
\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\HNSHA due to glutathione reductase deficiency
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary haemolytic anaemia\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:

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

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

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	Some
HNSHA due to glutathione reductase deficiency	Is a	Anemia due to enzyme deficiency	true	Inferred relationship	Some
HNSHA due to glutathione reductase deficiency	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Some
HNSHA due to glutathione reductase deficiency	Is a	Hereditary disorder of hematologic system	false	Inferred relationship	Some
HNSHA due to glutathione reductase deficiency	Is a	Erythrocyte enzyme deficiency	false	Inferred relationship	Some
HNSHA due to glutathione reductase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
HNSHA due to glutathione reductase deficiency	Finding site	Erythrocyte (cell)	true	Inferred relationship	Some	4
HNSHA due to glutathione reductase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
HNSHA due to glutathione reductase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
HNSHA due to glutathione reductase deficiency	Is a	Deficiency of glutathione reductase (NAD(P)H)	false	Inferred relationship	Some
HNSHA due to glutathione reductase deficiency	Is a	Hereditary nonspherocytic haemolytic anaemia	true	Inferred relationship	Some
HNSHA due to glutathione reductase deficiency	Associated etiologic finding	Enzymopathy	false	Inferred relationship	Some
HNSHA due to glutathione reductase deficiency	Associated etiologic finding	Deficiency of glutathione reductase (NAD(P)H)	false	Inferred relationship	Some
HNSHA due to glutathione reductase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
HNSHA due to glutathione reductase deficiency	Has definitional manifestation	érythropénie	false	Inferred relationship	Some
HNSHA due to glutathione reductase deficiency	Due to	Deficiency of glutathione reductase (NAD(P)H)	true	Inferred relationship	Some	5
HNSHA due to glutathione reductase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
HNSHA due to glutathione reductase deficiency	Has definitional manifestation	Haemolysis	false	Inferred relationship	Some
HNSHA due to glutathione reductase deficiency	Has interpretation	Below reference range	true	Inferred relationship	Some	1
HNSHA due to glutathione reductase deficiency	Has interpretation	Below reference range	true	Inferred relationship	Some	2
HNSHA due to glutathione reductase deficiency	Interprets	Red blood cell count	true	Inferred relationship	Some	1
HNSHA due to glutathione reductase deficiency	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
HNSHA due to glutathione reductase deficiency	Interprets	Erythrocyte destruction	false	Inferred relationship	Some
HNSHA due to glutathione reductase deficiency	Has interpretation	Present (qualifier value)	true	Inferred relationship	Some	3
HNSHA due to glutathione reductase deficiency	Interprets	Hemolysis (observable entity)	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

Back to Start

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
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