124669001: deficiëntie van glucose-6-fosfaatisomerase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of glucose-6-phosphate isomerase

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

Descriptions:

Id Description Lang Type Status Case? Module

204905019 Deficiency of phosphohexose isomerase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204907010 Deficiency of oxoisomerase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204908017 Deficiency of hexosephosphate isomerase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204909013 Deficiency of glucose-6-phosphate isomerase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728394011 Deficiency of glucose-6-phosphate isomerase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2162096010 Deficiency of phosphoglucoisomerase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6851411000146112 deficiëntie van glucose-6-fosfaatisomerase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8196391000146113 deficiëntie van G6PI nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9756631000146119 deficiëntie van glucose-6-fosfaatisomerase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11274291000146113 deficiëntie van hexosefosfaatisomerase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11274321000146116 deficiëntie van fosfohexose-isomerase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11274331000146119 GPI-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11670641000146114 deficiëntie van fosfogluco-isomerase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11670651000146112 deficiëntie van oxo-isomerase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of glucose-6-phosphate isomerase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of glucose-6-phosphate isomerase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets