111579006: hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van glutathionsynthetase (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\HNSHA due to glutathione synthetase deficiency

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

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

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

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

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

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

178830016 HNSHA due to glutathione synthetase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
632813012 HNSHA due to glutathione synthetase deficiency (disorder) en Fully specified name Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
2606397013 Hereditary nonspherocytic hemolytic anemia (HNSHA) due to glutathione synthetase deficiency (disorder) en Fully specified name Inactive Only initial character case insensitive (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
211151000146117 erfelijke niet-sferocytaire hemolytische anemie door glutathionsynthetasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
211161000146119 erfelijke niet-sferocytaire hemolytische anemie door deficiëntie van glutathionsynthetase (aandoening) nl Fully specified name Inactive Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
249861000146115 erfelijke niet-sferocytaire hemolytische anemie door deficiëntie van glutathionsynthetase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8617841000146113 hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van glutathionsynthetase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8670791000146118 hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van glutathionsynthetase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
HNSHA due to glutathione synthetase deficiency	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Some
HNSHA due to glutathione synthetase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
HNSHA due to glutathione synthetase deficiency	Is a	Hereditary disorder of hematologic system	false	Inferred relationship	Some
HNSHA due to glutathione synthetase deficiency	Is a	Anemia due to enzyme deficiency	true	Inferred relationship	Some
HNSHA due to glutathione synthetase deficiency	Is a	Inborn error of metabolism	false	Inferred relationship	Some
HNSHA due to glutathione synthetase deficiency	Is a	Erythrocyte enzyme deficiency	true	Inferred relationship	Some
HNSHA due to glutathione synthetase deficiency	Finding site	Erythrocyte	true	Inferred relationship	Some	4
HNSHA due to glutathione synthetase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
HNSHA due to glutathione synthetase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
HNSHA due to glutathione synthetase deficiency	Is a	Deficiency of glutathione synthase	false	Inferred relationship	Some
HNSHA due to glutathione synthetase deficiency	Is a	Hereditary nonspherocytic haemolytic anaemia	true	Inferred relationship	Some
HNSHA due to glutathione synthetase deficiency	Associated etiologic finding	Enzymopathy	false	Inferred relationship	Some
HNSHA due to glutathione synthetase deficiency	Associated etiologic finding	Deficiency of glutathione synthase	false	Inferred relationship	Some
HNSHA due to glutathione synthetase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
HNSHA due to glutathione synthetase deficiency	Has definitional manifestation	erytropenie (bevinding)	false	Inferred relationship	Some
HNSHA due to glutathione synthetase deficiency	Due to	Deficiency of glutathione synthase	true	Inferred relationship	Some	5
HNSHA due to glutathione synthetase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
HNSHA due to glutathione synthetase deficiency	Has definitional manifestation	Hemolysis	false	Inferred relationship	Some
HNSHA due to glutathione synthetase deficiency	Has interpretation	Below reference range	true	Inferred relationship	Some	1
HNSHA due to glutathione synthetase deficiency	Interprets	Red blood cell count	true	Inferred relationship	Some	1
HNSHA due to glutathione synthetase deficiency	Has interpretation	Below reference range	true	Inferred relationship	Some	2
HNSHA due to glutathione synthetase deficiency	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
HNSHA due to glutathione synthetase deficiency	Interprets	Erythrocyte destruction	false	Inferred relationship	Some
HNSHA due to glutathione synthetase deficiency	Has interpretation	Present	true	Inferred relationship	Some	3
HNSHA due to glutathione synthetase deficiency	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
632813012	HNSHA due to glutathione synthetase deficiency (disorder)	en	Fully specified name	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
2606397013	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to glutathione synthetase deficiency (disorder)	en	Fully specified name	Inactive	Only initial character case insensitive (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
211151000146117	erfelijke niet-sferocytaire hemolytische anemie door glutathionsynthetasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
211161000146119	erfelijke niet-sferocytaire hemolytische anemie door deficiëntie van glutathionsynthetase (aandoening)	nl	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
249861000146115	erfelijke niet-sferocytaire hemolytische anemie door deficiëntie van glutathionsynthetase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8617841000146113	hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van glutathionsynthetase (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8670791000146118	hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van glutathionsynthetase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)