62403005: anemie door deficiëntie van glucose-6-fosfaatdehydrogenase (aandoening)

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

\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\Glucose-6-phosphate dehydrogenase deficiency anemia
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency\Glucose-6-phosphate dehydrogenase deficiency anemia
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Anemia due to enzyme deficiency\Glucose-6-phosphate dehydrogenase 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

\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 (finding)\Red blood cell count below reference range\Hemolytic anemia\Anemia due to enzyme deficiency\Glucose-6-phosphate dehydrogenase 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
\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

\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\Glucose-6-phosphate dehydrogenase 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

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2015. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glucose-6-phosphate dehydrogenase deficiency anemia	Is a	Hereditary disorder of hematologic system	false	Inferred relationship	Some
Glucose-6-phosphate dehydrogenase deficiency anemia	Is a	X-linked hereditary disease	true	Inferred relationship	Some
Glucose-6-phosphate dehydrogenase deficiency anemia	Is a	Anemia due to enzyme deficiency	true	Inferred relationship	Some
Glucose-6-phosphate dehydrogenase deficiency anemia	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Some
Glucose-6-phosphate dehydrogenase deficiency anemia	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Glucose-6-phosphate dehydrogenase deficiency anemia	Interprets	Nutritional deficiency (finding)	false	Inferred relationship	Some
Glucose-6-phosphate dehydrogenase deficiency anemia	Finding site	Erythrocyte	false	Inferred relationship	Some	5
Glucose-6-phosphate dehydrogenase deficiency anemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Glucose-6-phosphate dehydrogenase deficiency anemia	Occurrence	Congenital	true	Inferred relationship	Some	4
Glucose-6-phosphate dehydrogenase deficiency anemia	Associated etiologic finding	Enzymopathy	false	Inferred relationship	Some
Glucose-6-phosphate dehydrogenase deficiency anemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Glucose-6-phosphate dehydrogenase deficiency anemia	Has definitional manifestation	erytropenie (bevinding)	false	Inferred relationship	Some
Glucose-6-phosphate dehydrogenase deficiency anemia	Due to	Enzymopathy	false	Inferred relationship	Some
Glucose-6-phosphate dehydrogenase deficiency anemia	Is a	Congenital anemia	false	Inferred relationship	Some
Glucose-6-phosphate dehydrogenase deficiency anemia	Has definitional manifestation	Hemolysis	false	Inferred relationship	Some
Glucose-6-phosphate dehydrogenase deficiency anemia	Due to	Deficiency of glucose-6-phosphate dehydrogenase (disorder)	true	Inferred relationship	Some	6
Glucose-6-phosphate dehydrogenase deficiency anemia	Is a	Hereditary red blood cell disorder (disorder)	false	Inferred relationship	Some
Glucose-6-phosphate dehydrogenase deficiency anemia	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Glucose-6-phosphate dehydrogenase deficiency anemia	Has interpretation	Below reference range	false	Inferred relationship	Some	2
Glucose-6-phosphate dehydrogenase deficiency anemia	Interprets	Red blood cell count	true	Inferred relationship	Some	1
Glucose-6-phosphate dehydrogenase deficiency anemia	Interprets	Measurement of total haemoglobin concentration	false	Inferred relationship	Some	2
Glucose-6-phosphate dehydrogenase deficiency anemia	Interprets	Erythrocyte destruction	false	Inferred relationship	Some
Glucose-6-phosphate dehydrogenase deficiency anemia	Has interpretation	Present	true	Inferred relationship	Some	3
Glucose-6-phosphate dehydrogenase deficiency anemia	Interprets	Hemolysis (observable entity)	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
G-6-PD class I variant anemia	Is a	True	Glucose-6-phosphate dehydrogenase deficiency anemia	Inferred relationship	Some
G-6-PD class III variant anemia	Is a	True	Glucose-6-phosphate dehydrogenase deficiency anemia	Inferred relationship	Some
G-6-PD class II variant anemia	Is a	True	Glucose-6-phosphate dehydrogenase deficiency anemia	Inferred relationship	Some
G-6-PD class V variant anemia	Is a	True	Glucose-6-phosphate dehydrogenase deficiency anemia	Inferred relationship	Some
G-6-PD class IV variant anemia	Is a	True	Glucose-6-phosphate dehydrogenase deficiency anemia	Inferred relationship	Some
G-6-PD variant enzyme deficiency anemia	Is a	True	Glucose-6-phosphate dehydrogenase deficiency anemia	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
103720012	Glucose-6-phosphate dehydrogenase deficiency anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
103723014	G-6-PD deficiency anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
199095014	Glucose-6-phosphate dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
199096010	G6PD deficiency anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
499266013	G-6-PD deficiency anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
499267016	G6PD deficiency anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
499268014	Glucose-6-phosphate dehydrogenase deficiency anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
801572015	Glucose-6-phosphate dehydrogenase deficiency anemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4476491000146110	anemie door G6PD	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10569061000146119	anemie door deficiëntie van glucose-6-fosfaatdehydrogenase (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10569071000146113	anemie door glucose-6-fosfaatdehydrogenasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10569081000146110	anemie door deficiëntie van glucose-6-fosfaatdehydrogenase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)