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

SNOMED CT Concept\Clinical 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
\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
\Measurement finding outside reference range\Measurement finding below 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

\Finding of red blood cell count\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

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

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

144047015 G-6-PD variant enzyme deficiency anemia en Synonym Active Entire term case sensitive SNOMED CT core module

507286012 G-6-PD variant enzyme deficiency anaemia en Synonym Active Entire term case sensitive SNOMED CT core module

2913480016 Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

2914694019 Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia en Synonym Active Entire term case insensitive SNOMED CT core module

3781772012 Glucose-6-phosphate dehydrogenase variant enzyme deficiency anaemia en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

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