25251008: Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Red blood cell disorder\Erythrocyte enzyme deficiency\HNSHA due to gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase deficiency

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

\Anemia due to enzyme deficiency\HNSHA due to gamma glutamyl cysteine synthetase deficiency

\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase deficiency
\Disease\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Disease\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Disease\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Disease\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase deficiency
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Erythrocyte enzyme deficiency\HNSHA due to gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase 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 gamma glutamyl cysteine synthetase deficiency
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte enzyme deficiency\HNSHA due to gamma glutamyl cysteine synthetase deficiency

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

42330011 HNSHA due to gamma glutamyl cysteine synthetase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2619922011 Hereditary nonspherocytic hemolytic anemia (HNSHA) due to gamma glutamyl cysteine synthetase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2619923018 Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to gamma glutamyl cysteine synthetase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2913257010 Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2914100017 Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3780594014 Hereditary nonspherocytic haemolytic anaemia due to gamma glutamyl cysteine synthetase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

42330011 HNSHA due to gamma glutamyl cysteine synthetase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

755547015 HNSHA due to gamma glutamyl cysteine synthetase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

755547015 HNSHA due to gamma glutamyl cysteine synthetase deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

2609559010 Hereditary nonspherocytic hemolytic anemia (HNSHA) due to gamma glutamyl cysteine synthetase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2619922011 Hereditary nonspherocytic hemolytic anemia (HNSHA) due to gamma glutamyl cysteine synthetase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2619923018 Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to gamma glutamyl cysteine synthetase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2913257010 Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2913257010 Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2914100017 Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2914100017 Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3780594014 Hereditary nonspherocytic haemolytic anaemia due to gamma glutamyl cysteine synthetase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6229761000241111 anémie hémolytique héréditaire non sphérocytaire due à un déficit en gamma glutamyl cystéine synthétase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6229761000241111 anémie hémolytique héréditaire non sphérocytaire due à un déficit en gamma glutamyl cystéine synthétase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
42330011	HNSHA due to gamma glutamyl cysteine synthetase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2619922011	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to gamma glutamyl cysteine synthetase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2619923018	Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to gamma glutamyl cysteine synthetase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2913257010	Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2914100017	Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3780594014	Hereditary nonspherocytic haemolytic anaemia due to gamma glutamyl cysteine synthetase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
42330011	HNSHA due to gamma glutamyl cysteine synthetase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
755547015	HNSHA due to gamma glutamyl cysteine synthetase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
755547015	HNSHA due to gamma glutamyl cysteine synthetase deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2609559010	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to gamma glutamyl cysteine synthetase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2619922011	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to gamma glutamyl cysteine synthetase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2619923018	Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to gamma glutamyl cysteine synthetase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2913257010	Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2913257010	Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2914100017	Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2914100017	Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3780594014	Hereditary nonspherocytic haemolytic anaemia due to gamma glutamyl cysteine synthetase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6229761000241111	anémie hémolytique héréditaire non sphérocytaire due à un déficit en gamma glutamyl cystéine synthétase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6229761000241111	anémie hémolytique héréditaire non sphérocytaire due à un déficit en gamma glutamyl cystéine synthétase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module