124134002: 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)\Red blood cell disorder\Erythrocyte enzyme deficiency\Deficiency of glucose-6-phosphate dehydrogenase (disorder)

\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\Deficiency of glucose-6-phosphate dehydrogenase (disorder)
\Disease\Disorder of body system\Hematological disorder (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\Deficiency of glucose-6-phosphate dehydrogenase (disorder)
\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of glucose-6-phosphate dehydrogenase (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
Deficiency of glucose-6-phosphate dehydrogenase (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of glucose-6-phosphate dehydrogenase (disorder)	Is a	Erythrocyte enzyme deficiency	true	Inferred relationship	Some
Deficiency of glucose-6-phosphate dehydrogenase (disorder)	Finding site	Erythrocyte	true	Inferred relationship	Some	1
Deficiency of glucose-6-phosphate dehydrogenase (disorder)	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Deficiency of glucose-6-phosphate dehydrogenase (disorder)	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Deficiency of glucose-6-phosphate dehydrogenase (disorder)	Has definitional manifestation	Red blood cell finding	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Favism	Is a	True	Deficiency of glucose-6-phosphate dehydrogenase (disorder)	Inferred relationship	Some
Glucose-6-phosphate dehydrogenase deficiency anemia	Is a	False	Deficiency of glucose-6-phosphate dehydrogenase (disorder)	Inferred relationship	Some
Neonatal jaundice due to glucose-6-phosphate dehydrogenase deficiency	Associated with	False	Deficiency of glucose-6-phosphate dehydrogenase (disorder)	Inferred relationship	Some	1
G-6-PD variant enzyme deficiency anemia	Due to	True	Deficiency of glucose-6-phosphate dehydrogenase (disorder)	Inferred relationship	Some	6
G-6-PD class I variant anemia	Due to	True	Deficiency of glucose-6-phosphate dehydrogenase (disorder)	Inferred relationship	Some	6
G-6-PD class III variant anemia	Due to	True	Deficiency of glucose-6-phosphate dehydrogenase (disorder)	Inferred relationship	Some	6
G-6-PD class V variant anemia	Due to	True	Deficiency of glucose-6-phosphate dehydrogenase (disorder)	Inferred relationship	Some	6
G-6-PD class II variant anemia	Due to	True	Deficiency of glucose-6-phosphate dehydrogenase (disorder)	Inferred relationship	Some	6
Glucose-6-phosphate dehydrogenase deficiency anemia	Due to	True	Deficiency of glucose-6-phosphate dehydrogenase (disorder)	Inferred relationship	Some	6
G-6-PD class IV variant anemia	Due to	True	Deficiency of glucose-6-phosphate dehydrogenase (disorder)	Inferred relationship	Some	6
Neonatal jaundice due to glucose-6-phosphate dehydrogenase deficiency	Due to	True	Deficiency of glucose-6-phosphate dehydrogenase (disorder)	Inferred relationship	Some	3
Moderate deficiency of glucose-6-phosphate dehydrogenase (disorder)	Is a	True	Deficiency of glucose-6-phosphate dehydrogenase (disorder)	Inferred relationship	Some
Severe deficiency of glucose-6-phosphate dehydrogenase (disorder)	Is a	True	Deficiency of glucose-6-phosphate dehydrogenase (disorder)	Inferred relationship	Some
Deficiency of glucose-6-phosphate dehydrogenase with normal enzyme activity (disorder)	Is a	True	Deficiency of glucose-6-phosphate dehydrogenase (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
203562018	Deficiency of glucose-6-phosphate dehydrogenase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
727622012	Deficiency of glucose-6-phosphate dehydrogenase (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5246508016	Deficiency of G-6PD (glucose-6-phosphate dehydrogenase)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5246509012	G6PD - glucose-6-phosphate dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4341751000146112	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)
11234721000146118	G6PD-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11234731000146116	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)
11234741000146112	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)
7544041000146115	Dit is een erfelijke bloedziekte door een tekort aan het enzym glucose-6-fosfaat-dehydrogenase (G6PD). Patiënten hebben vaak geen klachten, totdat zij bepaalde stoffen binnenkrijgen. Bij inname van bepaalde medicijnen of tuinbonen kan een ernstige bloedarmoede ontstaan.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)