111579006: Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase 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 hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)
\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\Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)
\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\Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)
\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\Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)

\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\Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)
\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\Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)
\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\Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia (finding)\Red blood cell count below reference range\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia (finding)\Red blood cell count below reference range\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)
\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\Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia (finding)\Red blood cell count below reference range\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia (finding)\Red blood cell count below reference range\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)
\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\Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)
\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\Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)
\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\Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)

\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\Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)

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

\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)

\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)

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

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

178830016 HNSHA due to glutathione synthetase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2618715017 Hereditary nonspherocytic hemolytic anemia (HNSHA) due to glutathione synthetase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2618716016 Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to glutathione synthetase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2913494015 Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2914546010 Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3780596011 Hereditary nonspherocytic haemolytic anaemia due to glutathione synthetase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4286111000005113 hereditær non-sfærocytisk hæmolytisk anæmi forårsaget af glutathionsynthetasemangel da Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Is a	Hereditary disorder of hematologic system	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Is a	Anemia due to enzyme deficiency	true	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Is a	Inborn error of metabolism	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Is a	Erythrocyte enzyme deficiency	true	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Finding site	Erythrocyte	true	Inferred relationship	Some	4
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Is a	Deficiency of glutathione synthase	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Is a	Hereditary nonspherocytic haemolytic anaemia	true	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Associated etiologic finding	Enzymopathy	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Associated etiologic finding	Deficiency of glutathione synthase	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Has definitional manifestation	Erytrocytopeni	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Due to	Deficiency of glutathione synthase	true	Inferred relationship	Some	5
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Has definitional manifestation	Hemolysis	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Interprets	Red blood cell count	true	Inferred relationship	Some	1
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Interprets	Erythrocyte destruction	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Has interpretation	Present	true	Inferred relationship	Some	3
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Interprets	Hemolysis (observable entity)	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
178830016	HNSHA due to glutathione synthetase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2618715017	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to glutathione synthetase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2618716016	Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to glutathione synthetase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2913494015	Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2914546010	Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3780596011	Hereditary nonspherocytic haemolytic anaemia due to glutathione synthetase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4286111000005113	hereditær non-sfærocytisk hæmolytisk anæmi forårsaget af glutathionsynthetasemangel	da	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Danish module (core metadata concept)