124668009: deficiëntie van mannose-6-fosfaatisomerase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of mannose-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

204897017 Deficiency of phosphomannose isomerase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204898010 Deficiency of phosphohexomutase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204899019 Deficiency of phosphohexoisomerase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204900012 Deficiency of mannose-6-phosphate isomerase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728393017 Deficiency of mannose-6-phosphate isomerase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6859361000146115 deficiëntie van mannose-6-fosfaatisomerase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9787241000146117 deficiëntie van mannose-6-fosfaatisomerase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11330151000146111 deficiëntie van fosfohexomutase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11330161000146114 deficiëntie van fosfomannose-isomerase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11672151000146118 deficiëntie van fosfohexo-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 mannose-6-phosphate isomerase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of mannose-6-phosphate isomerase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mannosephosphate isomerase congenital disorder of glycosylation (disorder)	Due to	True	Deficiency of mannose-6-phosphate isomerase	Inferred relationship	Some	2

This concept is not in any reference sets