86859003: Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)

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

\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\Glucose-6-phosphate dehydrogenase deficiency anemia\Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Anemia due to enzyme deficiency\Glucose-6-phosphate dehydrogenase deficiency anemia\Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Anemia due to enzyme deficiency\Glucose-6-phosphate dehydrogenase deficiency anemia\Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder (disorder)\Hemolytic anemia\Anemia due to enzyme deficiency\Glucose-6-phosphate dehydrogenase deficiency anemia\Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)

\Procedure related finding\Evaluation finding\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\Glucose-6-phosphate dehydrogenase deficiency anemia\Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)
\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\Glucose-6-phosphate dehydrogenase deficiency anemia\Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)
\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\Glucose-6-phosphate dehydrogenase deficiency anemia\Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)

\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\Glucose-6-phosphate dehydrogenase deficiency anemia\Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)

\Functional finding\Red blood cell destruction finding\Hemolysis\Hemolytic disorder (disorder)\Hemolytic anemia\Anemia due to enzyme deficiency\Glucose-6-phosphate dehydrogenase deficiency anemia\Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Glucose-6-phosphate dehydrogenase deficiency anemia\Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\Glucose-6-phosphate dehydrogenase deficiency anemia\Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Glucose-6-phosphate dehydrogenase deficiency anemia\Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)
\Disease\Disorder of cellular component of blood\Anaemia\Anaemia due to metabolic disorder\Anemia due to enzymopathy (disorder)\Anemia due to enzyme deficiency\Glucose-6-phosphate dehydrogenase deficiency anemia\Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)
\Disease\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Anemia due to enzyme deficiency\Glucose-6-phosphate dehydrogenase deficiency anemia\Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)
\Disease\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Anemia due to enzyme deficiency\Glucose-6-phosphate dehydrogenase deficiency anemia\Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glucose-6-phosphate dehydrogenase deficiency anemia\Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	Is a	Glucose-6-phosphate dehydrogenase deficiency anemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	Interprets	Nutritional deficiency state	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	Finding site	Erythrocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	Associated etiologic finding	Enzymopathy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	Due to	Enzymopathy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	Has definitional manifestation	Hemolysis	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	Due to	Deficiency of glucose-6-phosphate dehydrogenase (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	Has interpretation	Below reference range	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	Interprets	Red blood cell count	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	Interprets	Measurement of total haemoglobin concentration	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	Interprets	Erythrocyte destruction	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	Has interpretation	Present (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	Interprets	Haemolysis	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	Interprets	Haemolysis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	Has interpretation	Present (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

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
144047015	G-6-PD variant enzyme deficiency anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
507286012	G-6-PD variant enzyme deficiency anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2913480016	Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2914694019	Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3781772012	Glucose-6-phosphate dehydrogenase variant enzyme deficiency anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
144047015	G-6-PD variant enzyme deficiency anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
507286012	G-6-PD variant enzyme deficiency anaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
507286012	G-6-PD variant enzyme deficiency anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
829210011	G-6-PD variant enzyme deficiency anemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
829210011	G-6-PD variant enzyme deficiency anemia (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2913480016	Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2913480016	Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2914694019	Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2914694019	Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3781772012	Glucose-6-phosphate dehydrogenase variant enzyme deficiency anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core