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

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

\Evaluation finding\Measurement finding\...

\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\RBC count low\Hemolytic anemia\Anemia due to enzyme deficiency\Glucose-6-phosphate dehydrogenase deficiency anemia\G-6-PD variant enzyme deficiency anemia
\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Hemolytic anemia\Anemia due to enzyme deficiency\Glucose-6-phosphate dehydrogenase deficiency anemia\G-6-PD variant enzyme deficiency anemia
\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\RBC count low\Hemolytic anemia\Anemia due to enzyme deficiency\Glucose-6-phosphate dehydrogenase deficiency anemia\G-6-PD variant enzyme deficiency anemia

\Red blood cell count - finding\RBC count abnormal\RBC count low\Hemolytic anemia\Anemia due to enzyme deficiency\Glucose-6-phosphate dehydrogenase deficiency anemia\G-6-PD variant enzyme deficiency anemia

\Functional finding\Hemolytic anemia\Anemia due to enzyme deficiency\Glucose-6-phosphate dehydrogenase deficiency anemia\G-6-PD variant enzyme deficiency anemia

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

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
G-6-PD variant enzyme deficiency anemia	Is a	Glucose-6-phosphate dehydrogenase deficiency anemia	true	Inferred relationship	Some
G-6-PD variant enzyme deficiency anemia	Occurrence	Congenital	true	Inferred relationship	Some	4
G-6-PD variant enzyme deficiency anemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
G-6-PD variant enzyme deficiency anemia	Interprets	Nutritional deficiency (finding)	false	Inferred relationship	Some
G-6-PD variant enzyme deficiency anemia	Finding site	Erythrocyte	false	Inferred relationship	Some	5
G-6-PD variant enzyme deficiency anemia	Associated etiologic finding	Enzymopathy	false	Inferred relationship	Some
G-6-PD variant enzyme deficiency anemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
G-6-PD variant enzyme deficiency anemia	Has definitional manifestation	erytropeni	false	Inferred relationship	Some
G-6-PD variant enzyme deficiency anemia	Due to	Enzymopathy	false	Inferred relationship	Some
G-6-PD variant enzyme deficiency anemia	Has definitional manifestation	Hemolysis	false	Inferred relationship	Some
G-6-PD variant enzyme deficiency anemia	Due to	Deficiency of glucose-6-phosphate dehydrogenase (disorder)	true	Inferred relationship	Some	6
G-6-PD variant enzyme deficiency anemia	Has interpretation	Below reference range	false	Inferred relationship	Some	1
G-6-PD variant enzyme deficiency anemia	Has interpretation	Below reference range	true	Inferred relationship	Some	2
G-6-PD variant enzyme deficiency anemia	Interprets	Red blood cell count	false	Inferred relationship	Some	1
G-6-PD variant enzyme deficiency anemia	Interprets	Measurement of total haemoglobin concentration	false	Inferred relationship	Some	2
G-6-PD variant enzyme deficiency anemia	Interprets	Erythrocyte destruction	false	Inferred relationship	Some
G-6-PD variant enzyme deficiency anemia	Has interpretation	Present	false	Inferred relationship	Some	3
G-6-PD variant enzyme deficiency anemia	Interprets	Hemolysis (observable entity)	false	Inferred relationship	Some	3
G-6-PD variant enzyme deficiency anemia	Interprets	Hemolysis (observable entity)	true	Inferred relationship	Some	1
G-6-PD variant enzyme deficiency anemia	Has interpretation	Present	true	Inferred relationship	Some	1
G-6-PD variant enzyme deficiency anemia	Interprets	Red blood cell count	true	Inferred relationship	Some	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
963141000052117	anemi orsakad av brist på en variant av glucose-6-fosfatdehydrogenas	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)